Incidental Mutation 'R1824:Cr2'
| ID |
206635 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cr2
|
| Ensembl Gene |
ENSMUSG00000026616 |
| Gene Name |
complement receptor 2 |
| Synonyms |
C3DR, CD21, Cr-1, Cr1, CD35, Cr-2 |
| MMRRC Submission |
039852-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.140)
|
| Stock # |
R1824 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
195136811-195176716 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 195157316 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 601
(V601A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141538
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000082321]
[ENSMUST00000193356]
[ENSMUST00000193801]
[ENSMUST00000195120]
[ENSMUST00000210219]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000082321
AA Change: V601A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000080938
Gene: ENSMUSG00000026616
AA Change: V601A
| Domain | Start | End | E-Value | Type |
|---|
|
CCP
|
23 |
82 |
1.01e-11 |
SMART |
|
CCP
|
91 |
147 |
9.1e-14 |
SMART |
|
CCP
|
155 |
211 |
1.9e-16 |
SMART |
|
CCP
|
216 |
272 |
1.6e-9 |
SMART |
|
CCP
|
277 |
343 |
1.01e-11 |
SMART |
|
CCP
|
352 |
407 |
1.2e-13 |
SMART |
|
CCP
|
411 |
467 |
2.34e-16 |
SMART |
|
CCP
|
472 |
523 |
1.24e0 |
SMART |
|
CCP
|
528 |
594 |
4.48e-13 |
SMART |
|
CCP
|
603 |
658 |
1.95e-13 |
SMART |
|
CCP
|
718 |
778 |
1.75e-15 |
SMART |
|
CCP
|
787 |
842 |
2.06e-12 |
SMART |
|
CCP
|
850 |
906 |
7.92e-14 |
SMART |
|
CCP
|
911 |
967 |
1.29e-13 |
SMART |
|
transmembrane domain
|
975 |
997 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192604
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000193356
AA Change: V304A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000141706
Gene: ENSMUSG00000026616
AA Change: V304A
| Domain | Start | End | E-Value | Type |
|---|
|
CCP
|
1 |
46 |
1.2e-1 |
SMART |
|
CCP
|
55 |
110 |
5.9e-16 |
SMART |
|
CCP
|
114 |
170 |
1.1e-18 |
SMART |
|
CCP
|
175 |
226 |
6.1e-3 |
SMART |
|
CCP
|
231 |
297 |
2.2e-15 |
SMART |
|
CCP
|
306 |
361 |
9.4e-16 |
SMART |
|
CCP
|
421 |
481 |
8.3e-18 |
SMART |
|
CCP
|
490 |
545 |
1e-14 |
SMART |
|
CCP
|
553 |
609 |
4e-16 |
SMART |
|
CCP
|
614 |
670 |
6.2e-16 |
SMART |
|
transmembrane domain
|
678 |
700 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193801
|
| SMART Domains |
Protein: ENSMUSP00000141276
Gene: ENSMUSG00000026616
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000195120
AA Change: V601A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000141538
Gene: ENSMUSG00000026616
AA Change: V601A
| Domain | Start | End | E-Value | Type |
|---|
|
CCP
|
23 |
82 |
4.9e-14 |
SMART |
|
CCP
|
91 |
147 |
4.5e-16 |
SMART |
|
CCP
|
155 |
211 |
9.1e-19 |
SMART |
|
CCP
|
216 |
272 |
8e-12 |
SMART |
|
CCP
|
277 |
343 |
5e-14 |
SMART |
|
CCP
|
352 |
407 |
5.9e-16 |
SMART |
|
CCP
|
411 |
467 |
1.1e-18 |
SMART |
|
CCP
|
472 |
523 |
6.1e-3 |
SMART |
|
CCP
|
528 |
594 |
2.2e-15 |
SMART |
|
CCP
|
603 |
658 |
9.4e-16 |
SMART |
|
CCP
|
718 |
778 |
8.3e-18 |
SMART |
|
CCP
|
787 |
842 |
1e-14 |
SMART |
|
CCP
|
850 |
906 |
4e-16 |
SMART |
|
CCP
|
911 |
967 |
6.2e-16 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195737
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000210219
AA Change: V977A
|
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.2%
- 20x: 92.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a membrane protein, which functions as a receptor for Epstein-Barr virus (EBV) binding on B and T lymphocytes. Genetic variations in this gene are associated with susceptibility to systemic lupus erythematosus type 9 (SLEB9). Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
PHENOTYPE: Homozygotes for targeted null mutations exhibit impaired humoral immune responses to T cell-dependent antigens, with limited affinity maturation, and reduced memory B cell and germinal center formation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 103 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930533K18Rik |
T |
C |
10: 70,872,256 (GRCm38) |
|
noncoding transcript |
Het |
| Aadacl2fm1 |
C |
A |
3: 59,932,580 (GRCm38) |
Y24* |
probably null |
Het |
| Abl1 |
T |
A |
2: 31,800,644 (GRCm38) |
M706K |
probably benign |
Het |
| Abtb1 |
T |
C |
6: 88,836,554 (GRCm38) |
T401A |
probably benign |
Het |
| Acd |
A |
G |
8: 105,700,490 (GRCm38) |
L96P |
probably damaging |
Het |
| Arsi |
G |
A |
18: 60,916,651 (GRCm38) |
G202E |
probably benign |
Het |
| Arsi |
T |
A |
18: 60,912,297 (GRCm38) |
W20R |
probably damaging |
Het |
| Asic3 |
C |
T |
5: 24,413,751 (GRCm38) |
Q14* |
probably null |
Het |
| Asxl3 |
T |
A |
18: 22,522,068 (GRCm38) |
I1045N |
probably damaging |
Het |
| Atr |
T |
C |
9: 95,936,421 (GRCm38) |
I2149T |
probably damaging |
Het |
| Begain |
A |
G |
12: 109,033,099 (GRCm38) |
|
probably null |
Het |
| Brca2 |
C |
T |
5: 150,536,922 (GRCm38) |
T554I |
possibly damaging |
Het |
| Brd10 |
T |
C |
19: 29,716,414 (GRCm38) |
N1960S |
probably damaging |
Het |
| C1s2 |
C |
T |
6: 124,635,682 (GRCm38) |
V11I |
probably benign |
Het |
| Cacna1i |
T |
C |
15: 80,376,789 (GRCm38) |
F1333L |
possibly damaging |
Het |
| Camsap2 |
T |
C |
1: 136,273,783 (GRCm38) |
T662A |
possibly damaging |
Het |
| Cep164 |
C |
T |
9: 45,778,928 (GRCm38) |
V1367M |
probably damaging |
Het |
| Cfap46 |
C |
A |
7: 139,639,602 (GRCm38) |
A1316S |
probably benign |
Het |
| Cic |
T |
C |
7: 25,288,266 (GRCm38) |
S553P |
probably damaging |
Het |
| Cilk1 |
T |
A |
9: 78,157,862 (GRCm38) |
D351E |
probably benign |
Het |
| Clcn2 |
C |
T |
16: 20,715,962 (GRCm38) |
A12T |
probably benign |
Het |
| Clip2 |
A |
G |
5: 134,503,227 (GRCm38) |
Y540H |
probably benign |
Het |
| Coil |
A |
G |
11: 88,982,097 (GRCm38) |
N428S |
possibly damaging |
Het |
| Cpxm1 |
A |
C |
2: 130,395,697 (GRCm38) |
V196G |
probably damaging |
Het |
| Cyp3a25 |
T |
A |
5: 145,984,953 (GRCm38) |
K390N |
probably damaging |
Het |
| Dclre1a |
T |
C |
19: 56,546,718 (GRCm38) |
|
probably null |
Het |
| Dennd4a |
G |
C |
9: 64,859,358 (GRCm38) |
|
probably null |
Het |
| Dlg5 |
T |
C |
14: 24,149,444 (GRCm38) |
H1464R |
probably benign |
Het |
| Dmac2 |
T |
G |
7: 25,624,792 (GRCm38) |
M225R |
probably damaging |
Het |
| Dnah8 |
T |
C |
17: 30,731,180 (GRCm38) |
V1991A |
possibly damaging |
Het |
| Dscam |
A |
C |
16: 96,825,581 (GRCm38) |
V376G |
probably benign |
Het |
| Dync1li1 |
A |
G |
9: 114,709,184 (GRCm38) |
D203G |
probably benign |
Het |
| Eva1c |
A |
G |
16: 90,866,443 (GRCm38) |
T22A |
probably benign |
Het |
| Fam110b |
A |
G |
4: 5,799,029 (GRCm38) |
D149G |
probably benign |
Het |
| Fras1 |
A |
T |
5: 96,770,688 (GRCm38) |
I3528F |
probably damaging |
Het |
| Fsip1 |
T |
C |
2: 118,232,908 (GRCm38) |
D360G |
probably damaging |
Het |
| Galnt14 |
T |
C |
17: 73,709,939 (GRCm38) |
T41A |
probably benign |
Het |
| Gdf3 |
T |
A |
6: 122,609,962 (GRCm38) |
Q2L |
probably benign |
Het |
| Glrp1 |
A |
G |
1: 88,509,789 (GRCm38) |
|
probably null |
Het |
| Gm3336 |
C |
G |
8: 70,720,417 (GRCm38) |
|
probably null |
Het |
| Gm8674 |
C |
T |
13: 49,900,808 (GRCm38) |
|
noncoding transcript |
Het |
| Gnat1 |
A |
G |
9: 107,676,575 (GRCm38) |
Y226H |
probably damaging |
Het |
| Grk5 |
T |
C |
19: 61,089,972 (GRCm38) |
V489A |
probably damaging |
Het |
| H1f8 |
A |
G |
6: 115,948,758 (GRCm38) |
Y1C |
probably null |
Het |
| Igfbpl1 |
C |
A |
4: 45,826,406 (GRCm38) |
A130S |
probably benign |
Het |
| Impdh1 |
T |
A |
6: 29,205,088 (GRCm38) |
D261V |
probably benign |
Het |
| Itgal |
T |
A |
7: 127,314,060 (GRCm38) |
S610T |
probably damaging |
Het |
| Jcad |
A |
G |
18: 4,649,293 (GRCm38) |
T55A |
probably benign |
Het |
| Jup |
G |
A |
11: 100,374,137 (GRCm38) |
R663* |
probably null |
Het |
| Kalrn |
C |
T |
16: 34,294,215 (GRCm38) |
G556D |
probably damaging |
Het |
| Krt81 |
T |
C |
15: 101,460,139 (GRCm38) |
E411G |
probably damaging |
Het |
| Lcat |
T |
C |
8: 105,939,888 (GRCm38) |
E334G |
probably damaging |
Het |
| Lhcgr |
T |
C |
17: 88,750,157 (GRCm38) |
E302G |
probably benign |
Het |
| Magi1 |
A |
G |
6: 93,699,639 (GRCm38) |
V913A |
possibly damaging |
Het |
| Mrpl19 |
A |
T |
6: 81,964,079 (GRCm38) |
|
probably null |
Het |
| Muc4 |
G |
T |
16: 32,755,933 (GRCm38) |
|
probably benign |
Het |
| Mycbp2 |
A |
G |
14: 103,252,509 (GRCm38) |
V953A |
possibly damaging |
Het |
| Myo3a |
G |
A |
2: 22,396,243 (GRCm38) |
V600I |
probably benign |
Het |
| Ndufv3 |
G |
A |
17: 31,531,245 (GRCm38) |
R467Q |
probably damaging |
Het |
| Ngef |
A |
G |
1: 87,503,264 (GRCm38) |
|
probably null |
Het |
| Nisch |
A |
T |
14: 31,176,432 (GRCm38) |
|
probably benign |
Het |
| Nlrp4c |
G |
A |
7: 6,066,956 (GRCm38) |
|
probably null |
Het |
| Nup153 |
A |
T |
13: 46,713,747 (GRCm38) |
S154T |
probably damaging |
Het |
| Obscn |
A |
G |
11: 58,994,832 (GRCm38) |
|
probably benign |
Het |
| Or2t1 |
T |
A |
14: 14,328,774 (GRCm38) |
L221Q |
probably damaging |
Het |
| Or4a74 |
G |
T |
2: 89,609,349 (GRCm38) |
P251H |
probably damaging |
Het |
| Or6c219 |
T |
C |
10: 129,945,337 (GRCm38) |
M242V |
possibly damaging |
Het |
| Otogl |
T |
C |
10: 107,779,831 (GRCm38) |
N1869S |
probably benign |
Het |
| Phf24 |
G |
T |
4: 42,934,661 (GRCm38) |
C136F |
probably damaging |
Het |
| Phldb2 |
A |
T |
16: 45,826,011 (GRCm38) |
V65E |
probably benign |
Het |
| Pkhd1 |
C |
A |
1: 20,347,457 (GRCm38) |
G2490V |
probably damaging |
Het |
| Prl8a8 |
A |
T |
13: 27,508,450 (GRCm38) |
M186K |
probably damaging |
Het |
| Qars1 |
T |
C |
9: 108,514,610 (GRCm38) |
V70A |
probably damaging |
Het |
| Rac1 |
C |
T |
5: 143,517,225 (GRCm38) |
V14I |
probably benign |
Het |
| Rapgef5 |
T |
A |
12: 117,688,684 (GRCm38) |
|
probably null |
Het |
| Slc16a12 |
G |
A |
19: 34,670,878 (GRCm38) |
T405M |
possibly damaging |
Het |
| Slc17a6 |
A |
G |
7: 51,661,546 (GRCm38) |
Y336C |
probably damaging |
Het |
| Slc30a9 |
T |
C |
5: 67,348,052 (GRCm38) |
L441P |
probably damaging |
Het |
| Slc45a2 |
T |
C |
15: 11,022,086 (GRCm38) |
S305P |
probably damaging |
Het |
| Sod3 |
G |
T |
5: 52,368,162 (GRCm38) |
V68L |
probably benign |
Het |
| Sp1 |
T |
G |
15: 102,431,003 (GRCm38) |
S773A |
possibly damaging |
Het |
| Spen |
C |
A |
4: 141,472,785 (GRCm38) |
G2821C |
probably damaging |
Het |
| Tagap1 |
A |
G |
17: 6,956,026 (GRCm38) |
S424P |
probably benign |
Het |
| Tbc1d22a |
T |
C |
15: 86,235,569 (GRCm38) |
V22A |
possibly damaging |
Het |
| Tfec |
C |
T |
6: 16,840,468 (GRCm38) |
|
probably null |
Het |
| Thsd7a |
A |
T |
6: 12,409,042 (GRCm38) |
|
probably null |
Het |
| Tnfsf15 |
C |
A |
4: 63,733,351 (GRCm38) |
G112V |
probably benign |
Het |
| Tnfsf9 |
A |
G |
17: 57,105,738 (GRCm38) |
T103A |
probably benign |
Het |
| Tnxb |
C |
T |
17: 34,692,333 (GRCm38) |
R1537* |
probably null |
Het |
| Tpra1 |
A |
G |
6: 88,911,823 (GRCm38) |
N329S |
probably benign |
Het |
| Ttc12 |
A |
G |
9: 49,456,884 (GRCm38) |
F281S |
probably damaging |
Het |
| Unc79 |
A |
G |
12: 103,059,320 (GRCm38) |
N322S |
probably damaging |
Het |
| Unk |
G |
T |
11: 116,030,442 (GRCm38) |
|
probably benign |
Het |
| Usp4 |
G |
T |
9: 108,348,008 (GRCm38) |
G31W |
probably damaging |
Het |
| Vcan |
G |
T |
13: 89,705,212 (GRCm38) |
A543D |
possibly damaging |
Het |
| Vil1 |
A |
C |
1: 74,418,447 (GRCm38) |
I80L |
probably benign |
Het |
| Vmn2r27 |
C |
T |
6: 124,231,634 (GRCm38) |
G51S |
probably benign |
Het |
| Vpreb1a |
A |
G |
16: 16,869,071 (GRCm38) |
|
probably null |
Het |
| Zbtb6 |
C |
T |
2: 37,429,817 (GRCm38) |
C33Y |
probably damaging |
Het |
| Zfp330 |
A |
T |
8: 82,766,015 (GRCm38) |
C189* |
probably null |
Het |
| Zfp942 |
T |
A |
17: 21,928,541 (GRCm38) |
H369L |
probably damaging |
Het |
| Zfp943 |
T |
A |
17: 21,992,380 (GRCm38) |
I149K |
probably benign |
Het |
| Zfyve19 |
G |
A |
2: 119,211,535 (GRCm38) |
V162M |
probably benign |
Het |
|
| Other mutations in Cr2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00587:Cr2
|
APN |
1 |
195,154,251 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
IGL01326:Cr2
|
APN |
1 |
195,141,221 (GRCm38) |
missense |
probably null |
1.00 |
|
IGL01358:Cr2
|
APN |
1 |
195,159,820 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01410:Cr2
|
APN |
1 |
195,163,234 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
IGL01468:Cr2
|
APN |
1 |
195,168,535 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01608:Cr2
|
APN |
1 |
195,155,220 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
IGL01810:Cr2
|
APN |
1 |
195,159,595 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
IGL01843:Cr2
|
APN |
1 |
195,150,914 (GRCm38) |
splice site |
probably benign |
|
|
IGL02332:Cr2
|
APN |
1 |
195,160,322 (GRCm38) |
missense |
probably benign |
0.19 |
|
IGL02934:Cr2
|
APN |
1 |
195,154,325 (GRCm38) |
splice site |
probably benign |
|
|
IGL02938:Cr2
|
APN |
1 |
195,166,388 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03149:Cr2
|
APN |
1 |
195,166,366 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03327:Cr2
|
APN |
1 |
195,169,759 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03346:Cr2
|
APN |
1 |
195,169,759 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Pillar
|
UTSW |
1 |
195,155,888 (GRCm38) |
nonsense |
probably null |
|
|
PIT4354001:Cr2
|
UTSW |
1 |
195,166,309 (GRCm38) |
missense |
probably damaging |
1.00 |
|
PIT4418001:Cr2
|
UTSW |
1 |
195,157,452 (GRCm38) |
missense |
probably benign |
0.08 |
|
R0128:Cr2
|
UTSW |
1 |
195,166,231 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0130:Cr2
|
UTSW |
1 |
195,166,231 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0380:Cr2
|
UTSW |
1 |
195,157,407 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0538:Cr2
|
UTSW |
1 |
195,160,359 (GRCm38) |
splice site |
probably benign |
|
|
R0605:Cr2
|
UTSW |
1 |
195,163,596 (GRCm38) |
splice site |
probably benign |
|
|
R0626:Cr2
|
UTSW |
1 |
195,171,111 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R1135:Cr2
|
UTSW |
1 |
195,157,190 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1396:Cr2
|
UTSW |
1 |
195,169,253 (GRCm38) |
splice site |
probably null |
|
|
R1422:Cr2
|
UTSW |
1 |
195,171,125 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1467:Cr2
|
UTSW |
1 |
195,157,509 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1467:Cr2
|
UTSW |
1 |
195,157,509 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1511:Cr2
|
UTSW |
1 |
195,155,272 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R1572:Cr2
|
UTSW |
1 |
195,163,314 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1714:Cr2
|
UTSW |
1 |
195,151,686 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R1748:Cr2
|
UTSW |
1 |
195,155,905 (GRCm38) |
nonsense |
probably null |
|
|
R1761:Cr2
|
UTSW |
1 |
195,155,123 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1893:Cr2
|
UTSW |
1 |
195,155,187 (GRCm38) |
missense |
probably benign |
0.03 |
|
R1990:Cr2
|
UTSW |
1 |
195,154,150 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R1991:Cr2
|
UTSW |
1 |
195,154,150 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R1992:Cr2
|
UTSW |
1 |
195,154,150 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R2191:Cr2
|
UTSW |
1 |
195,163,381 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R2276:Cr2
|
UTSW |
1 |
195,157,368 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R2277:Cr2
|
UTSW |
1 |
195,157,368 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R3548:Cr2
|
UTSW |
1 |
195,155,888 (GRCm38) |
nonsense |
probably null |
|
|
R3743:Cr2
|
UTSW |
1 |
195,149,966 (GRCm38) |
splice site |
probably benign |
|
|
R3941:Cr2
|
UTSW |
1 |
195,165,814 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R3963:Cr2
|
UTSW |
1 |
195,159,739 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4211:Cr2
|
UTSW |
1 |
195,156,328 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R4484:Cr2
|
UTSW |
1 |
195,154,174 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4546:Cr2
|
UTSW |
1 |
195,171,041 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R4791:Cr2
|
UTSW |
1 |
195,155,935 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4801:Cr2
|
UTSW |
1 |
195,163,311 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4802:Cr2
|
UTSW |
1 |
195,163,311 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4874:Cr2
|
UTSW |
1 |
195,176,570 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R4885:Cr2
|
UTSW |
1 |
195,158,731 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R4889:Cr2
|
UTSW |
1 |
195,176,585 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
R5154:Cr2
|
UTSW |
1 |
195,159,446 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5574:Cr2
|
UTSW |
1 |
195,141,236 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5594:Cr2
|
UTSW |
1 |
195,157,190 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5645:Cr2
|
UTSW |
1 |
195,154,273 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5700:Cr2
|
UTSW |
1 |
195,159,757 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5929:Cr2
|
UTSW |
1 |
195,171,111 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R6237:Cr2
|
UTSW |
1 |
195,157,502 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6299:Cr2
|
UTSW |
1 |
195,168,646 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6368:Cr2
|
UTSW |
1 |
195,168,472 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6406:Cr2
|
UTSW |
1 |
195,169,771 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6618:Cr2
|
UTSW |
1 |
195,157,379 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6684:Cr2
|
UTSW |
1 |
195,171,021 (GRCm38) |
nonsense |
probably null |
|
|
R6720:Cr2
|
UTSW |
1 |
195,155,200 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R6866:Cr2
|
UTSW |
1 |
195,151,691 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6915:Cr2
|
UTSW |
1 |
195,171,146 (GRCm38) |
missense |
probably benign |
0.06 |
|
R7057:Cr2
|
UTSW |
1 |
195,151,610 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R7117:Cr2
|
UTSW |
1 |
195,160,601 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R7200:Cr2
|
UTSW |
1 |
195,163,249 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7209:Cr2
|
UTSW |
1 |
195,168,724 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7350:Cr2
|
UTSW |
1 |
195,155,286 (GRCm38) |
missense |
probably benign |
0.21 |
|
R7414:Cr2
|
UTSW |
1 |
195,150,036 (GRCm38) |
missense |
probably benign |
|
|
R7453:Cr2
|
UTSW |
1 |
195,165,257 (GRCm38) |
splice site |
probably null |
|
|
R7479:Cr2
|
UTSW |
1 |
195,158,410 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7480:Cr2
|
UTSW |
1 |
195,154,176 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7570:Cr2
|
UTSW |
1 |
195,169,340 (GRCm38) |
nonsense |
probably null |
|
|
R7666:Cr2
|
UTSW |
1 |
195,154,225 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7921:Cr2
|
UTSW |
1 |
195,151,667 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R7923:Cr2
|
UTSW |
1 |
195,168,687 (GRCm38) |
missense |
probably benign |
0.03 |
|
R8396:Cr2
|
UTSW |
1 |
195,158,068 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8503:Cr2
|
UTSW |
1 |
195,163,542 (GRCm38) |
missense |
probably benign |
|
|
R8517:Cr2
|
UTSW |
1 |
195,155,899 (GRCm38) |
missense |
probably benign |
0.03 |
|
R8773:Cr2
|
UTSW |
1 |
195,158,605 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8849:Cr2
|
UTSW |
1 |
195,157,239 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8896:Cr2
|
UTSW |
1 |
195,169,273 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
R8938:Cr2
|
UTSW |
1 |
195,171,116 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9027:Cr2
|
UTSW |
1 |
195,151,721 (GRCm38) |
missense |
probably benign |
0.08 |
|
R9045:Cr2
|
UTSW |
1 |
195,155,372 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R9116:Cr2
|
UTSW |
1 |
195,158,669 (GRCm38) |
nonsense |
probably null |
|
|
R9137:Cr2
|
UTSW |
1 |
195,168,332 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9476:Cr2
|
UTSW |
1 |
195,158,108 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R9497:Cr2
|
UTSW |
1 |
195,168,435 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9510:Cr2
|
UTSW |
1 |
195,158,108 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R9752:Cr2
|
UTSW |
1 |
195,141,267 (GRCm38) |
missense |
probably benign |
0.37 |
|
R9799:Cr2
|
UTSW |
1 |
195,160,680 (GRCm38) |
missense |
probably benign |
0.02 |
|
X0028:Cr2
|
UTSW |
1 |
195,149,982 (GRCm38) |
missense |
probably benign |
0.09 |
|
X0066:Cr2
|
UTSW |
1 |
195,166,321 (GRCm38) |
missense |
probably damaging |
0.99 |
|
Z1176:Cr2
|
UTSW |
1 |
195,154,153 (GRCm38) |
missense |
probably benign |
0.23 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCACCAAATTTTATCTCCAGC -3'
(R):5'- GGAGTTCCTCAGAAGATGTCCC -3'
Sequencing Primer
(F):5'- AAATTTTATCTCCAGCCCCTCAATTC -3'
(R):5'- GTTCCTCAGAAGATGTCCCATATGG -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation