Incidental Mutation 'R4668:Sorl1'
| ID |
352168 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sorl1
|
| Ensembl Gene |
ENSMUSG00000049313 |
| Gene Name |
sortilin-related receptor, LDLR class A repeats-containing |
| Synonyms |
2900010L19Rik, mSorLA, Sorla, LR11 |
| Accession Numbers |
Genbank: NM_011436; MGI: 1202296 |
| Essential gene? |
Probably non essential
(E-score: 0.244)
|
| Stock # |
R4668 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
41964720-42124297 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 41984508 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 1784
(W1784R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058613
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060989]
|
| AlphaFold |
O88307 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000060989
AA Change: W1784R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000058613
Gene: ENSMUSG00000049313
AA Change: W1784R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
VPS10
|
124 |
757 |
N/A |
SMART |
|
LY
|
780 |
822 |
9.33e-6 |
SMART |
|
LY
|
824 |
866 |
2.38e-12 |
SMART |
|
LY
|
867 |
912 |
1.87e-5 |
SMART |
|
LY
|
913 |
953 |
1.08e-10 |
SMART |
|
LY
|
954 |
993 |
5.43e0 |
SMART |
|
EGF_like
|
1020 |
1072 |
2.8e1 |
SMART |
|
LDLa
|
1077 |
1114 |
1.76e-14 |
SMART |
|
LDLa
|
1116 |
1155 |
5.34e-14 |
SMART |
|
LDLa
|
1157 |
1194 |
1.67e-15 |
SMART |
|
EGF_like
|
1198 |
1236 |
4.93e1 |
SMART |
|
LDLa
|
1198 |
1237 |
3.83e-15 |
SMART |
|
LDLa
|
1238 |
1273 |
1.99e-13 |
SMART |
|
LDLa
|
1274 |
1317 |
2.53e-6 |
SMART |
|
LDLa
|
1324 |
1361 |
4.34e-14 |
SMART |
|
LDLa
|
1367 |
1405 |
1.14e-13 |
SMART |
|
LDLa
|
1418 |
1455 |
3.34e-15 |
SMART |
|
LDLa
|
1470 |
1508 |
1.09e-10 |
SMART |
|
LDLa
|
1513 |
1551 |
1.09e-10 |
SMART |
|
FN3
|
1555 |
1638 |
4.19e-4 |
SMART |
|
FN3
|
1651 |
1732 |
7.23e-8 |
SMART |
|
FN3
|
1747 |
1830 |
4.8e0 |
SMART |
|
FN3
|
1842 |
1920 |
3e1 |
SMART |
|
FN3
|
1933 |
2016 |
6.01e-5 |
SMART |
|
FN3
|
2025 |
2107 |
2.03e-2 |
SMART |
|
transmembrane domain
|
2137 |
2159 |
N/A |
INTRINSIC |
|
low complexity region
|
2188 |
2199 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139133
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148800
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mosaic protein that belongs to at least two families: the vacuolar protein sorting 10 (VPS10) domain-containing receptor family, and the low density lipoprotein receptor (LDLR) family. The encoded protein also contains fibronectin type III repeats and an epidermal growth factor repeat. The encoded preproprotein is proteolytically processed to generate the mature receptor, which likely plays roles in endocytosis and sorting. Mutations in this gene may be associated with Alzheimer's disease. [provided by RefSeq, Feb 2016]
PHENOTYPE: Homozygous mutation of this gene results in decreased femoral artery intimal thickness after cuff placement and abolished angiotensin II stimulated vascular smooth muscle migration and attachment. Two other alleles show an increase in beta-amyloid deposits or peptide in the brain. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(15) : Targeted, knock-out(2) Gene trapped(13) |
| Other mutations in this stock |
Total: 105 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921528I07Rik |
A |
T |
9: 114,304,711 (GRCm38) |
|
noncoding transcript |
Het |
| 6430548M08Rik |
T |
C |
8: 120,160,414 (GRCm38) |
|
probably null |
Het |
| Abca4 |
G |
A |
3: 122,155,299 (GRCm38) |
G531E |
possibly damaging |
Het |
| Acad8 |
A |
G |
9: 26,990,627 (GRCm38) |
L147P |
probably damaging |
Het |
| Acot10 |
T |
C |
15: 20,665,942 (GRCm38) |
S238G |
probably benign |
Het |
| Adamtsl2 |
A |
T |
2: 27,095,475 (GRCm38) |
H457L |
probably benign |
Het |
| Ankrd35 |
A |
T |
3: 96,679,208 (GRCm38) |
T67S |
probably damaging |
Het |
| Aox2 |
T |
G |
1: 58,334,694 (GRCm38) |
I838S |
possibly damaging |
Het |
| Arnt2 |
T |
C |
7: 84,275,386 (GRCm38) |
N411S |
probably damaging |
Het |
| Bmpr2 |
T |
C |
1: 59,867,716 (GRCm38) |
L656S |
probably damaging |
Het |
| Carns1 |
A |
T |
19: 4,165,476 (GRCm38) |
Y902* |
probably null |
Het |
| Cavin1 |
T |
C |
11: 100,958,796 (GRCm38) |
E336G |
probably damaging |
Het |
| Cbl |
A |
T |
9: 44,153,848 (GRCm38) |
C728S |
probably benign |
Het |
| Ccdc136 |
C |
A |
6: 29,411,281 (GRCm38) |
Q218K |
probably damaging |
Het |
| Cdk19 |
C |
A |
10: 40,466,710 (GRCm38) |
T196K |
probably damaging |
Het |
| Ceacam20 |
T |
C |
7: 19,986,027 (GRCm38) |
Y495H |
probably damaging |
Het |
| Celf2 |
T |
C |
2: 6,721,528 (GRCm38) |
I47V |
probably benign |
Het |
| Ces3a |
A |
C |
8: 105,053,423 (GRCm38) |
K299T |
probably damaging |
Het |
| Cfap61 |
A |
T |
2: 146,143,136 (GRCm38) |
I967F |
probably damaging |
Het |
| Cnksr1 |
C |
T |
4: 134,232,971 (GRCm38) |
|
probably benign |
Het |
| Cped1 |
T |
C |
6: 22,237,653 (GRCm38) |
Y923H |
probably benign |
Het |
| Crip3 |
T |
C |
17: 46,429,364 (GRCm38) |
L30P |
probably damaging |
Het |
| Csmd1 |
A |
G |
8: 16,023,891 (GRCm38) |
I2030T |
possibly damaging |
Het |
| Ctse |
C |
A |
1: 131,662,749 (GRCm38) |
P70T |
probably damaging |
Het |
| Cyp2b23 |
A |
G |
7: 26,672,734 (GRCm38) |
F429L |
probably damaging |
Het |
| Cyp2c66 |
T |
A |
19: 39,176,656 (GRCm38) |
D360E |
probably damaging |
Het |
| D8Ertd738e |
A |
T |
8: 84,249,481 (GRCm38) |
L46* |
probably null |
Het |
| Dcp2 |
T |
A |
18: 44,415,362 (GRCm38) |
|
probably null |
Het |
| Ddx10 |
C |
A |
9: 53,099,213 (GRCm38) |
D834Y |
possibly damaging |
Het |
| Ddx19a |
A |
T |
8: 110,979,084 (GRCm38) |
V245E |
probably damaging |
Het |
| Dpf2 |
A |
C |
19: 5,904,487 (GRCm38) |
D130E |
probably benign |
Het |
| Emc8 |
A |
T |
8: 120,667,779 (GRCm38) |
M67K |
probably damaging |
Het |
| Ephb6 |
T |
C |
6: 41,614,602 (GRCm38) |
L231P |
possibly damaging |
Het |
| Erp27 |
T |
C |
6: 136,908,152 (GRCm38) |
E216G |
possibly damaging |
Het |
| Esco1 |
A |
T |
18: 10,594,734 (GRCm38) |
I184N |
possibly damaging |
Het |
| Fam205c |
A |
G |
4: 42,871,608 (GRCm38) |
F256L |
probably benign |
Het |
| Fdxacb1 |
T |
A |
9: 50,770,260 (GRCm38) |
D11E |
possibly damaging |
Het |
| Fhod3 |
C |
T |
18: 25,066,338 (GRCm38) |
P689S |
probably benign |
Het |
| Fnip1 |
T |
A |
11: 54,503,559 (GRCm38) |
S940R |
probably damaging |
Het |
| Ganc |
G |
T |
2: 120,431,067 (GRCm38) |
V343F |
probably benign |
Het |
| Gldn |
T |
A |
9: 54,332,018 (GRCm38) |
L228* |
probably null |
Het |
| Gm1123 |
C |
T |
9: 99,009,373 (GRCm38) |
R341H |
probably damaging |
Het |
| Gtf2f2 |
T |
C |
14: 75,917,638 (GRCm38) |
Y161C |
probably benign |
Het |
| Gtf3c1 |
T |
C |
7: 125,667,338 (GRCm38) |
T979A |
probably damaging |
Het |
| Hist1h4a |
A |
G |
13: 23,760,976 (GRCm38) |
V61A |
probably benign |
Het |
| Hmcn2 |
G |
T |
2: 31,435,792 (GRCm38) |
R4277L |
probably benign |
Het |
| Hsd17b6 |
T |
A |
10: 127,994,426 (GRCm38) |
|
probably null |
Het |
| Igkv12-46 |
T |
C |
6: 69,764,797 (GRCm38) |
T25A |
probably damaging |
Het |
| Inpp5e |
G |
A |
2: 26,400,994 (GRCm38) |
R354C |
probably damaging |
Het |
| Jcad |
T |
A |
18: 4,680,221 (GRCm38) |
|
probably null |
Het |
| Kcna10 |
G |
T |
3: 107,194,694 (GRCm38) |
A214S |
possibly damaging |
Het |
| Kit |
T |
C |
5: 75,641,220 (GRCm38) |
|
probably null |
Het |
| Kmt2a |
G |
A |
9: 44,824,572 (GRCm38) |
|
probably benign |
Het |
| Lama1 |
T |
C |
17: 67,752,434 (GRCm38) |
V604A |
probably benign |
Het |
| Mesd |
T |
C |
7: 83,895,756 (GRCm38) |
V138A |
probably damaging |
Het |
| Mmp13 |
T |
C |
9: 7,272,580 (GRCm38) |
F9S |
possibly damaging |
Het |
| Mocos |
T |
C |
18: 24,666,434 (GRCm38) |
Y242H |
probably benign |
Het |
| Mrc1 |
A |
C |
2: 14,293,486 (GRCm38) |
T718P |
probably damaging |
Het |
| Msh6 |
T |
C |
17: 87,984,806 (GRCm38) |
S330P |
possibly damaging |
Het |
| Myh10 |
A |
G |
11: 68,804,642 (GRCm38) |
K1532E |
probably damaging |
Het |
| Nat9 |
T |
C |
11: 115,184,542 (GRCm38) |
N91S |
probably damaging |
Het |
| Neto2 |
A |
T |
8: 85,641,062 (GRCm38) |
I351N |
probably damaging |
Het |
| Nfx1 |
A |
G |
4: 40,976,367 (GRCm38) |
N14D |
possibly damaging |
Het |
| Nlrp4b |
A |
G |
7: 10,714,733 (GRCm38) |
T288A |
possibly damaging |
Het |
| Nutm2 |
C |
A |
13: 50,472,997 (GRCm38) |
T396K |
probably benign |
Het |
| Ogdhl |
A |
G |
14: 32,332,536 (GRCm38) |
T196A |
probably benign |
Het |
| Olfr1453 |
A |
T |
19: 13,028,081 (GRCm38) |
F83I |
probably benign |
Het |
| Olfr548-ps1 |
A |
G |
7: 102,542,604 (GRCm38) |
I223V |
possibly damaging |
Het |
| Olfr582 |
A |
T |
7: 103,041,851 (GRCm38) |
D119V |
probably benign |
Het |
| Omg |
T |
A |
11: 79,502,423 (GRCm38) |
N203I |
probably damaging |
Het |
| Pdgfrb |
A |
G |
18: 61,064,113 (GRCm38) |
Y207C |
probably damaging |
Het |
| Pdzd7 |
T |
A |
19: 45,045,687 (GRCm38) |
|
probably benign |
Het |
| Pgs1 |
C |
A |
11: 118,003,507 (GRCm38) |
H157N |
probably damaging |
Het |
| Pik3c2a |
A |
G |
7: 116,358,688 (GRCm38) |
V1121A |
probably benign |
Het |
| Pikfyve |
T |
A |
1: 65,250,273 (GRCm38) |
C1235S |
probably damaging |
Het |
| Pms1 |
G |
A |
1: 53,189,474 (GRCm38) |
Q872* |
probably null |
Het |
| Ptgs2 |
A |
G |
1: 150,101,084 (GRCm38) |
T23A |
probably benign |
Het |
| Rgl1 |
T |
G |
1: 152,521,371 (GRCm38) |
R716S |
probably damaging |
Het |
| Rif1 |
A |
G |
2: 52,111,952 (GRCm38) |
E1806G |
probably benign |
Het |
| Ripor1 |
T |
C |
8: 105,614,652 (GRCm38) |
V39A |
probably benign |
Het |
| Ryr2 |
G |
T |
13: 11,593,117 (GRCm38) |
T868N |
probably benign |
Het |
| Sec22b |
A |
T |
3: 97,921,122 (GRCm38) |
D167V |
probably damaging |
Het |
| Sec24d |
T |
C |
3: 123,355,774 (GRCm38) |
V810A |
probably damaging |
Het |
| Shh |
T |
C |
5: 28,457,855 (GRCm38) |
*438W |
probably null |
Het |
| Slc25a12 |
G |
A |
2: 71,315,062 (GRCm38) |
S178L |
probably benign |
Het |
| Sp3 |
A |
T |
2: 72,970,981 (GRCm38) |
S229R |
probably damaging |
Het |
| Spdye4c |
G |
A |
2: 128,592,353 (GRCm38) |
V5I |
possibly damaging |
Het |
| Spint2 |
A |
T |
7: 29,260,379 (GRCm38) |
V53D |
probably damaging |
Het |
| Stard3nl |
T |
A |
13: 19,376,519 (GRCm38) |
N29Y |
probably damaging |
Het |
| Stk25 |
A |
G |
1: 93,625,483 (GRCm38) |
S299P |
probably damaging |
Het |
| Sult2a3 |
A |
G |
7: 14,122,861 (GRCm38) |
S45P |
probably damaging |
Het |
| Thsd7a |
A |
T |
6: 12,408,968 (GRCm38) |
V685E |
probably damaging |
Het |
| Tm9sf4 |
T |
A |
2: 153,187,308 (GRCm38) |
V92D |
probably damaging |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Topors |
G |
A |
4: 40,262,669 (GRCm38) |
T205I |
probably damaging |
Het |
| Tpo |
T |
A |
12: 30,103,290 (GRCm38) |
Y355F |
probably benign |
Het |
| Uba1y |
T |
A |
Y: 826,032 (GRCm38) |
M396K |
possibly damaging |
Het |
| Vmn1r50 |
A |
T |
6: 90,107,531 (GRCm38) |
Q86L |
probably benign |
Het |
| Vmn1r77 |
A |
G |
7: 12,041,431 (GRCm38) |
K45E |
probably damaging |
Het |
| Vmn2r114 |
A |
C |
17: 23,310,473 (GRCm38) |
N218K |
possibly damaging |
Het |
| Vmn2r66 |
T |
A |
7: 84,994,697 (GRCm38) |
N835I |
probably damaging |
Het |
| Vps54 |
T |
G |
11: 21,299,989 (GRCm38) |
N458K |
probably benign |
Het |
| Zcchc7 |
G |
T |
4: 44,895,964 (GRCm38) |
C304F |
probably damaging |
Het |
| Zfp335 |
A |
T |
2: 164,900,286 (GRCm38) |
C593S |
probably damaging |
Het |
| Zmynd15 |
C |
G |
11: 70,462,588 (GRCm38) |
P214R |
probably damaging |
Het |
|
| Other mutations in Sorl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00087:Sorl1
|
APN |
9 |
41,974,094 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01303:Sorl1
|
APN |
9 |
42,024,478 (GRCm38) |
splice site |
probably benign |
|
|
IGL01545:Sorl1
|
APN |
9 |
42,043,956 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01629:Sorl1
|
APN |
9 |
42,057,269 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL01670:Sorl1
|
APN |
9 |
42,001,492 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
IGL01684:Sorl1
|
APN |
9 |
41,980,711 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL02154:Sorl1
|
APN |
9 |
42,004,034 (GRCm38) |
missense |
probably benign |
|
|
IGL02215:Sorl1
|
APN |
9 |
42,018,182 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL02427:Sorl1
|
APN |
9 |
42,041,690 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02590:Sorl1
|
APN |
9 |
42,046,561 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02794:Sorl1
|
APN |
9 |
42,063,774 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02797:Sorl1
|
APN |
9 |
42,037,059 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02987:Sorl1
|
APN |
9 |
42,041,053 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03005:Sorl1
|
APN |
9 |
42,057,325 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03069:Sorl1
|
APN |
9 |
41,991,426 (GRCm38) |
missense |
probably benign |
|
|
IGL03288:Sorl1
|
APN |
9 |
42,033,562 (GRCm38) |
splice site |
probably benign |
|
|
N/A - 287:Sorl1
|
UTSW |
9 |
42,041,596 (GRCm38) |
nonsense |
probably null |
|
|
PIT4151001:Sorl1
|
UTSW |
9 |
41,968,622 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0117:Sorl1
|
UTSW |
9 |
42,033,577 (GRCm38) |
missense |
probably benign |
0.10 |
|
R0173:Sorl1
|
UTSW |
9 |
42,067,933 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0318:Sorl1
|
UTSW |
9 |
42,081,954 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0385:Sorl1
|
UTSW |
9 |
42,031,909 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0448:Sorl1
|
UTSW |
9 |
42,004,088 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0492:Sorl1
|
UTSW |
9 |
41,991,371 (GRCm38) |
missense |
probably null |
0.00 |
|
R0512:Sorl1
|
UTSW |
9 |
42,067,832 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0587:Sorl1
|
UTSW |
9 |
41,984,506 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0600:Sorl1
|
UTSW |
9 |
42,043,900 (GRCm38) |
splice site |
probably benign |
|
|
R0831:Sorl1
|
UTSW |
9 |
42,071,069 (GRCm38) |
splice site |
probably benign |
|
|
R0924:Sorl1
|
UTSW |
9 |
42,008,174 (GRCm38) |
splice site |
probably benign |
|
|
R1013:Sorl1
|
UTSW |
9 |
42,002,559 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1053:Sorl1
|
UTSW |
9 |
41,991,456 (GRCm38) |
missense |
probably benign |
|
|
R1077:Sorl1
|
UTSW |
9 |
42,014,490 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1326:Sorl1
|
UTSW |
9 |
42,031,796 (GRCm38) |
missense |
probably benign |
0.14 |
|
R1348:Sorl1
|
UTSW |
9 |
42,000,412 (GRCm38) |
splice site |
probably null |
|
|
R1498:Sorl1
|
UTSW |
9 |
42,041,073 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1671:Sorl1
|
UTSW |
9 |
41,974,000 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1713:Sorl1
|
UTSW |
9 |
41,996,242 (GRCm38) |
missense |
probably benign |
0.06 |
|
R1738:Sorl1
|
UTSW |
9 |
42,089,965 (GRCm38) |
missense |
probably benign |
0.33 |
|
R1779:Sorl1
|
UTSW |
9 |
41,991,482 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R1871:Sorl1
|
UTSW |
9 |
41,969,725 (GRCm38) |
nonsense |
probably null |
|
|
R1912:Sorl1
|
UTSW |
9 |
42,081,950 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1952:Sorl1
|
UTSW |
9 |
42,046,624 (GRCm38) |
missense |
probably benign |
|
|
R2071:Sorl1
|
UTSW |
9 |
41,979,457 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R2153:Sorl1
|
UTSW |
9 |
41,984,492 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2417:Sorl1
|
UTSW |
9 |
41,980,711 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R2429:Sorl1
|
UTSW |
9 |
42,037,070 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2866:Sorl1
|
UTSW |
9 |
41,969,781 (GRCm38) |
missense |
probably benign |
|
|
R3815:Sorl1
|
UTSW |
9 |
42,064,049 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R3816:Sorl1
|
UTSW |
9 |
42,064,049 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R3817:Sorl1
|
UTSW |
9 |
42,064,049 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R3819:Sorl1
|
UTSW |
9 |
42,064,049 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R3890:Sorl1
|
UTSW |
9 |
42,004,105 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3941:Sorl1
|
UTSW |
9 |
41,989,468 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R4409:Sorl1
|
UTSW |
9 |
42,035,448 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4410:Sorl1
|
UTSW |
9 |
42,003,992 (GRCm38) |
nonsense |
probably null |
|
|
R4610:Sorl1
|
UTSW |
9 |
42,031,914 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R4664:Sorl1
|
UTSW |
9 |
42,004,051 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R4666:Sorl1
|
UTSW |
9 |
42,004,051 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R4823:Sorl1
|
UTSW |
9 |
41,992,321 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4874:Sorl1
|
UTSW |
9 |
42,063,752 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4898:Sorl1
|
UTSW |
9 |
42,041,639 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4922:Sorl1
|
UTSW |
9 |
42,014,450 (GRCm38) |
splice site |
probably null |
|
|
R4976:Sorl1
|
UTSW |
9 |
41,983,003 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4984:Sorl1
|
UTSW |
9 |
41,991,342 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5046:Sorl1
|
UTSW |
9 |
41,996,294 (GRCm38) |
missense |
probably benign |
|
|
R5070:Sorl1
|
UTSW |
9 |
42,031,818 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R5084:Sorl1
|
UTSW |
9 |
41,976,377 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5202:Sorl1
|
UTSW |
9 |
42,033,583 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5265:Sorl1
|
UTSW |
9 |
42,106,516 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R5275:Sorl1
|
UTSW |
9 |
42,030,902 (GRCm38) |
missense |
probably benign |
0.33 |
|
R5368:Sorl1
|
UTSW |
9 |
41,979,390 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5385:Sorl1
|
UTSW |
9 |
42,057,284 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R5386:Sorl1
|
UTSW |
9 |
42,057,284 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R5416:Sorl1
|
UTSW |
9 |
42,002,636 (GRCm38) |
nonsense |
probably null |
|
|
R5518:Sorl1
|
UTSW |
9 |
42,037,212 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R5545:Sorl1
|
UTSW |
9 |
41,991,625 (GRCm38) |
missense |
probably benign |
0.08 |
|
R5864:Sorl1
|
UTSW |
9 |
42,092,373 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5865:Sorl1
|
UTSW |
9 |
41,983,034 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R6339:Sorl1
|
UTSW |
9 |
41,969,742 (GRCm38) |
missense |
probably benign |
0.10 |
|
R6484:Sorl1
|
UTSW |
9 |
41,976,407 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6505:Sorl1
|
UTSW |
9 |
42,071,234 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6591:Sorl1
|
UTSW |
9 |
42,002,567 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6596:Sorl1
|
UTSW |
9 |
42,001,603 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R6654:Sorl1
|
UTSW |
9 |
41,980,645 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R6691:Sorl1
|
UTSW |
9 |
42,002,567 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6702:Sorl1
|
UTSW |
9 |
42,071,201 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R6703:Sorl1
|
UTSW |
9 |
42,071,201 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R6775:Sorl1
|
UTSW |
9 |
42,092,452 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R6792:Sorl1
|
UTSW |
9 |
42,099,263 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6852:Sorl1
|
UTSW |
9 |
42,024,398 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R6860:Sorl1
|
UTSW |
9 |
42,022,392 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6925:Sorl1
|
UTSW |
9 |
42,033,626 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7022:Sorl1
|
UTSW |
9 |
41,969,751 (GRCm38) |
missense |
probably benign |
0.11 |
|
R7033:Sorl1
|
UTSW |
9 |
42,030,983 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R7091:Sorl1
|
UTSW |
9 |
42,002,634 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7267:Sorl1
|
UTSW |
9 |
42,124,079 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R7269:Sorl1
|
UTSW |
9 |
42,037,203 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7272:Sorl1
|
UTSW |
9 |
42,063,710 (GRCm38) |
splice site |
probably null |
|
|
R7537:Sorl1
|
UTSW |
9 |
41,980,688 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7615:Sorl1
|
UTSW |
9 |
41,977,582 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R7636:Sorl1
|
UTSW |
9 |
42,092,334 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R7727:Sorl1
|
UTSW |
9 |
41,984,526 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7763:Sorl1
|
UTSW |
9 |
42,043,909 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7831:Sorl1
|
UTSW |
9 |
42,089,961 (GRCm38) |
missense |
probably benign |
0.17 |
|
R7956:Sorl1
|
UTSW |
9 |
41,989,359 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7964:Sorl1
|
UTSW |
9 |
41,991,401 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7977:Sorl1
|
UTSW |
9 |
41,977,561 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7987:Sorl1
|
UTSW |
9 |
41,977,561 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8151:Sorl1
|
UTSW |
9 |
42,067,933 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8219:Sorl1
|
UTSW |
9 |
42,041,561 (GRCm38) |
splice site |
probably null |
|
|
R8261:Sorl1
|
UTSW |
9 |
42,014,481 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8283:Sorl1
|
UTSW |
9 |
42,030,998 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8308:Sorl1
|
UTSW |
9 |
42,018,160 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8348:Sorl1
|
UTSW |
9 |
41,991,745 (GRCm38) |
missense |
probably benign |
0.35 |
|
R8448:Sorl1
|
UTSW |
9 |
41,991,745 (GRCm38) |
missense |
probably benign |
0.35 |
|
R8524:Sorl1
|
UTSW |
9 |
41,974,074 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8869:Sorl1
|
UTSW |
9 |
42,022,426 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8898:Sorl1
|
UTSW |
9 |
42,000,271 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8972:Sorl1
|
UTSW |
9 |
42,046,552 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9012:Sorl1
|
UTSW |
9 |
42,071,195 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9094:Sorl1
|
UTSW |
9 |
42,063,754 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R9241:Sorl1
|
UTSW |
9 |
41,974,124 (GRCm38) |
nonsense |
probably null |
|
|
R9278:Sorl1
|
UTSW |
9 |
42,046,561 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9288:Sorl1
|
UTSW |
9 |
42,041,631 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9303:Sorl1
|
UTSW |
9 |
41,989,443 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9330:Sorl1
|
UTSW |
9 |
42,067,933 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9332:Sorl1
|
UTSW |
9 |
42,001,518 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9468:Sorl1
|
UTSW |
9 |
42,124,088 (GRCm38) |
missense |
probably benign |
0.20 |
|
R9528:Sorl1
|
UTSW |
9 |
42,022,335 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9544:Sorl1
|
UTSW |
9 |
42,081,809 (GRCm38) |
nonsense |
probably null |
|
|
R9563:Sorl1
|
UTSW |
9 |
42,046,597 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9564:Sorl1
|
UTSW |
9 |
42,046,597 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9588:Sorl1
|
UTSW |
9 |
42,081,809 (GRCm38) |
nonsense |
probably null |
|
|
R9634:Sorl1
|
UTSW |
9 |
41,996,294 (GRCm38) |
missense |
probably benign |
|
|
R9671:Sorl1
|
UTSW |
9 |
42,031,781 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R9701:Sorl1
|
UTSW |
9 |
42,092,470 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1176:Sorl1
|
UTSW |
9 |
42,123,948 (GRCm38) |
missense |
probably benign |
0.03 |
|
Z1176:Sorl1
|
UTSW |
9 |
42,099,203 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
Z1177:Sorl1
|
UTSW |
9 |
42,106,541 (GRCm38) |
missense |
probably benign |
0.00 |
|
Z1177:Sorl1
|
UTSW |
9 |
41,991,638 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
Z1177:Sorl1
|
UTSW |
9 |
42,123,912 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z31818:Sorl1
|
UTSW |
9 |
42,041,596 (GRCm38) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTCAATGGGCAAGGACTGTC -3'
(R):5'- CTGAGATAGCCCATTAACGCCC -3'
Sequencing Primer
(F):5'- CTCAATGGGCAAGGACTGTCTATATG -3'
(R):5'- GCCCACTTACTATAAATAACTGCAG -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation