Incidental Mutation 'R6633:Lrp10'
| ID |
525337 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrp10
|
| Ensembl Gene |
ENSMUSG00000022175 |
| Gene Name |
low-density lipoprotein receptor-related protein 10 |
| Synonyms |
Lrp9 |
| MMRRC Submission |
044755-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6633 (G1)
|
| Quality Score |
197.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
54701260-54707749 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 54706531 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 489
(V489A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022782
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022782]
[ENSMUST00000227760]
|
| AlphaFold |
Q7TQH7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022782
AA Change: V489A
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000022782
Gene: ENSMUSG00000022175
AA Change: V489A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
CUB
|
29 |
137 |
5.33e-2 |
SMART |
|
LDLa
|
140 |
177 |
5.26e-13 |
SMART |
|
CUB
|
193 |
306 |
2.57e-4 |
SMART |
|
LDLa
|
308 |
356 |
1.05e-3 |
SMART |
|
LDLa
|
357 |
399 |
4.89e-2 |
SMART |
|
LDLa
|
400 |
436 |
1.63e-9 |
SMART |
|
transmembrane domain
|
442 |
464 |
N/A |
INTRINSIC |
|
low complexity region
|
544 |
569 |
N/A |
INTRINSIC |
|
low complexity region
|
614 |
629 |
N/A |
INTRINSIC |
|
low complexity region
|
634 |
655 |
N/A |
INTRINSIC |
|
low complexity region
|
672 |
681 |
N/A |
INTRINSIC |
|
low complexity region
|
685 |
710 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226346
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226472
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227760
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000228407
AA Change: C83R
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.8%
|
| Validation Efficiency |
100% (50/50) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a low density lipoprotein receptor family protein. A similar protein in mouse is thought to play a role in the uptake of apolipoprotein E-containing lipoproteins. [provided by RefSeq, Jul 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatf |
C |
A |
11: 84,402,308 (GRCm39) |
|
probably null |
Het |
| Acot7 |
C |
T |
4: 152,262,716 (GRCm39) |
P30L |
probably benign |
Het |
| Adam24 |
T |
G |
8: 41,133,526 (GRCm39) |
D331E |
probably benign |
Het |
| Adamdec1 |
T |
C |
14: 68,810,601 (GRCm39) |
D185G |
probably benign |
Het |
| Adgrg7 |
T |
C |
16: 56,550,649 (GRCm39) |
I688V |
probably benign |
Het |
| Adgrv1 |
A |
T |
13: 81,716,762 (GRCm39) |
F779I |
probably damaging |
Het |
| Agtr1a |
A |
G |
13: 30,565,450 (GRCm39) |
I172V |
probably benign |
Het |
| Anapc4 |
C |
T |
5: 53,023,288 (GRCm39) |
H710Y |
possibly damaging |
Het |
| Arf1 |
T |
C |
11: 59,103,370 (GRCm39) |
N179S |
probably benign |
Het |
| Arhgef40 |
C |
T |
14: 52,234,888 (GRCm39) |
P1064S |
probably damaging |
Het |
| Btnl1 |
A |
G |
17: 34,604,305 (GRCm39) |
N362S |
possibly damaging |
Het |
| Ccdc80 |
T |
C |
16: 44,915,271 (GRCm39) |
F9S |
possibly damaging |
Het |
| Ccdc96 |
G |
A |
5: 36,642,533 (GRCm39) |
E180K |
probably benign |
Het |
| Cdh2 |
A |
T |
18: 16,773,605 (GRCm39) |
N241K |
probably benign |
Het |
| Cdk8 |
C |
A |
5: 146,235,656 (GRCm39) |
S261* |
probably null |
Het |
| Csf2rb2 |
T |
C |
15: 78,173,152 (GRCm39) |
E236G |
probably benign |
Het |
| Dgcr8 |
A |
T |
16: 18,102,046 (GRCm39) |
S79T |
possibly damaging |
Het |
| Dnah5 |
A |
T |
15: 28,293,933 (GRCm39) |
Y1346F |
probably benign |
Het |
| Dock6 |
A |
G |
9: 21,731,627 (GRCm39) |
V1194A |
probably benign |
Het |
| Dock6 |
A |
G |
9: 21,732,799 (GRCm39) |
S1129P |
probably damaging |
Het |
| Ephb2 |
C |
G |
4: 136,411,307 (GRCm39) |
S451T |
probably benign |
Het |
| Esco1 |
T |
A |
18: 10,595,738 (GRCm39) |
|
probably benign |
Het |
| Fcer1a |
C |
G |
1: 173,054,293 (GRCm39) |
|
probably null |
Het |
| Gbx2 |
TCCCCC |
TCCCCCC |
1: 89,856,442 (GRCm39) |
|
probably null |
Het |
| Gm44511 |
T |
A |
6: 128,803,205 (GRCm39) |
D2V |
probably damaging |
Het |
| H2-Q2 |
A |
G |
17: 35,561,363 (GRCm39) |
T19A |
probably damaging |
Het |
| Herc1 |
G |
T |
9: 66,346,534 (GRCm39) |
E1967* |
probably null |
Het |
| Hic1 |
G |
T |
11: 75,060,324 (GRCm39) |
H8N |
unknown |
Het |
| Irx4 |
G |
T |
13: 73,416,545 (GRCm39) |
A314S |
probably benign |
Het |
| Jarid2 |
C |
A |
13: 45,038,353 (GRCm39) |
H84N |
probably damaging |
Het |
| Klk1b27 |
A |
T |
7: 43,705,234 (GRCm39) |
I134F |
probably damaging |
Het |
| Kprp |
T |
C |
3: 92,732,600 (GRCm39) |
Y150C |
probably damaging |
Het |
| Lama5 |
G |
A |
2: 179,833,455 (GRCm39) |
P1519L |
probably damaging |
Het |
| Mrgpra6 |
A |
G |
7: 46,838,493 (GRCm39) |
I235T |
possibly damaging |
Het |
| Naip1 |
A |
G |
13: 100,559,584 (GRCm39) |
M1140T |
probably benign |
Het |
| Naip1 |
C |
T |
13: 100,559,593 (GRCm39) |
R1137Q |
probably benign |
Het |
| Or4c12 |
T |
C |
2: 89,773,710 (GRCm39) |
I250V |
probably benign |
Het |
| Plcl2 |
A |
G |
17: 50,947,168 (GRCm39) |
I1016V |
probably benign |
Het |
| Plekhb1 |
A |
G |
7: 100,294,846 (GRCm39) |
Y122H |
probably damaging |
Het |
| Polr2a |
A |
G |
11: 69,626,339 (GRCm39) |
S1604P |
possibly damaging |
Het |
| Ppp6r2 |
G |
A |
15: 89,137,458 (GRCm39) |
|
probably null |
Het |
| Rag1 |
T |
A |
2: 101,473,055 (GRCm39) |
R696W |
probably damaging |
Het |
| Rusc2 |
T |
C |
4: 43,414,852 (GRCm39) |
F53L |
probably damaging |
Het |
| Rxylt1 |
G |
A |
10: 121,932,958 (GRCm39) |
R7W |
probably damaging |
Het |
| Tango6 |
T |
C |
8: 107,444,637 (GRCm39) |
V514A |
probably benign |
Het |
| Tex30 |
A |
C |
1: 44,127,084 (GRCm39) |
H64Q |
probably benign |
Het |
| Tmbim7 |
A |
G |
5: 3,707,659 (GRCm39) |
|
probably null |
Het |
| Tpcn1 |
A |
G |
5: 120,682,529 (GRCm39) |
M493T |
probably benign |
Het |
| Tpx2 |
T |
G |
2: 152,709,274 (GRCm39) |
F35V |
probably damaging |
Het |
| Vmn1r3 |
G |
A |
4: 3,184,971 (GRCm39) |
T112I |
probably benign |
Het |
| Wnt2b |
T |
C |
3: 104,858,372 (GRCm39) |
Y299C |
probably damaging |
Het |
|
| Other mutations in Lrp10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01951:Lrp10
|
APN |
14 |
54,706,119 (GRCm39) |
nonsense |
probably null |
|
|
IGL02641:Lrp10
|
APN |
14 |
54,706,068 (GRCm39) |
nonsense |
probably null |
|
|
IGL02697:Lrp10
|
APN |
14 |
54,707,154 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02974:Lrp10
|
APN |
14 |
54,705,341 (GRCm39) |
nonsense |
probably null |
|
|
IGL03030:Lrp10
|
APN |
14 |
54,706,619 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
chowmein
|
UTSW |
14 |
54,705,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
egg_fu_young
|
UTSW |
14 |
54,706,723 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0452:Lrp10
|
UTSW |
14 |
54,705,036 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0765:Lrp10
|
UTSW |
14 |
54,705,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1700:Lrp10
|
UTSW |
14 |
54,707,209 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1726:Lrp10
|
UTSW |
14 |
54,707,113 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2943:Lrp10
|
UTSW |
14 |
54,707,302 (GRCm39) |
unclassified |
probably benign |
|
|
R3746:Lrp10
|
UTSW |
14 |
54,706,723 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R3749:Lrp10
|
UTSW |
14 |
54,706,723 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4356:Lrp10
|
UTSW |
14 |
54,705,823 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4357:Lrp10
|
UTSW |
14 |
54,705,823 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4358:Lrp10
|
UTSW |
14 |
54,705,823 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4379:Lrp10
|
UTSW |
14 |
54,705,823 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4380:Lrp10
|
UTSW |
14 |
54,705,823 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4751:Lrp10
|
UTSW |
14 |
54,706,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5055:Lrp10
|
UTSW |
14 |
54,705,802 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5133:Lrp10
|
UTSW |
14 |
54,707,067 (GRCm39) |
missense |
probably benign |
|
|
R6845:Lrp10
|
UTSW |
14 |
54,707,145 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6874:Lrp10
|
UTSW |
14 |
54,705,670 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R6958:Lrp10
|
UTSW |
14 |
54,707,278 (GRCm39) |
unclassified |
probably benign |
|
|
R6989:Lrp10
|
UTSW |
14 |
54,705,950 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7162:Lrp10
|
UTSW |
14 |
54,703,163 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R7453:Lrp10
|
UTSW |
14 |
54,705,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7600:Lrp10
|
UTSW |
14 |
54,706,852 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9087:Lrp10
|
UTSW |
14 |
54,705,621 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0026:Lrp10
|
UTSW |
14 |
54,706,856 (GRCm39) |
nonsense |
probably null |
|
|
X0027:Lrp10
|
UTSW |
14 |
54,705,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Lrp10
|
UTSW |
14 |
54,705,379 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1177:Lrp10
|
UTSW |
14 |
54,705,018 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCATCAGCTCCAGAGAGTAGTC -3'
(R):5'- ACGTAGGTTTCCCAGCACAG -3'
Sequencing Primer
(F):5'- TCTCTAGGAAGGGAGGGACATGAC -3'
(R):5'- GTAGGTTTCCCAGCACAGAGTTC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation