Incidental Mutation 'R1217:Vmn2r70'
| ID |
99741 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r70
|
| Ensembl Gene |
ENSMUSG00000090806 |
| Gene Name |
vomeronasal 2, receptor 70 |
| Synonyms |
EG620835 |
| MMRRC Submission |
039286-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
R1217 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
85207911-85218296 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 85208269 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 736
(C736Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129703
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168230]
|
| AlphaFold |
K7N702 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168230
AA Change: C736Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129703
Gene: ENSMUSG00000090806
AA Change: C736Y
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
77 |
468 |
2.5e-28 |
PFAM |
|
Pfam:NCD3G
|
510 |
562 |
1.5e-19 |
PFAM |
|
Pfam:7tm_3
|
592 |
830 |
1.2e-52 |
PFAM |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.8%
- 20x: 87.6%
|
| Validation Efficiency |
100% (45/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adora2a |
A |
T |
10: 75,169,049 (GRCm39) |
Y171F |
probably damaging |
Het |
| Agpat4 |
C |
T |
17: 12,429,203 (GRCm39) |
R152W |
probably damaging |
Het |
| Aldh1a2 |
A |
G |
9: 71,188,964 (GRCm39) |
N293D |
possibly damaging |
Het |
| Ash2l |
T |
C |
8: 26,312,913 (GRCm39) |
N441S |
probably damaging |
Het |
| Asrgl1 |
A |
T |
19: 9,093,864 (GRCm39) |
|
probably null |
Het |
| Capn3 |
C |
A |
2: 120,316,902 (GRCm39) |
S277* |
probably null |
Het |
| Ccdc168 |
A |
T |
1: 44,096,339 (GRCm39) |
S1586R |
possibly damaging |
Het |
| Ccp110 |
T |
C |
7: 118,329,167 (GRCm39) |
|
probably benign |
Het |
| Cdh17 |
T |
C |
4: 11,799,676 (GRCm39) |
V491A |
probably benign |
Het |
| Cep170b |
T |
C |
12: 112,707,339 (GRCm39) |
S362P |
probably damaging |
Het |
| Cfap57 |
A |
G |
4: 118,463,849 (GRCm39) |
S335P |
possibly damaging |
Het |
| Cmklr1 |
A |
T |
5: 113,752,107 (GRCm39) |
L298Q |
probably damaging |
Het |
| Col4a4 |
A |
T |
1: 82,466,730 (GRCm39) |
|
probably null |
Het |
| Cul9 |
C |
G |
17: 46,833,101 (GRCm39) |
A1326P |
probably damaging |
Het |
| Cyp2d26 |
A |
G |
15: 82,677,068 (GRCm39) |
|
probably benign |
Het |
| Cyth3 |
T |
C |
5: 143,688,575 (GRCm39) |
Y240H |
probably damaging |
Het |
| Dhx9 |
G |
A |
1: 153,334,109 (GRCm39) |
T1017I |
probably damaging |
Het |
| Edar |
T |
C |
10: 58,464,453 (GRCm39) |
Y62C |
probably damaging |
Het |
| Esyt3 |
C |
T |
9: 99,200,097 (GRCm39) |
G699D |
possibly damaging |
Het |
| Fgb |
T |
C |
3: 82,950,564 (GRCm39) |
T397A |
probably damaging |
Het |
| Foxc1 |
C |
A |
13: 31,992,668 (GRCm39) |
A493E |
unknown |
Het |
| Grid1 |
T |
C |
14: 34,542,186 (GRCm39) |
M1T |
probably null |
Het |
| Ipo4 |
T |
C |
14: 55,871,816 (GRCm39) |
K113R |
probably damaging |
Het |
| Kif21b |
A |
G |
1: 136,080,114 (GRCm39) |
E550G |
probably damaging |
Het |
| Krt1 |
T |
C |
15: 101,757,416 (GRCm39) |
K265E |
possibly damaging |
Het |
| Lmx1a |
G |
A |
1: 167,618,968 (GRCm39) |
R109H |
probably damaging |
Het |
| Mcm5 |
A |
G |
8: 75,852,919 (GRCm39) |
K677R |
probably benign |
Het |
| Metap1 |
A |
T |
3: 138,180,791 (GRCm39) |
L130* |
probably null |
Het |
| Mrgpra4 |
A |
G |
7: 47,631,085 (GRCm39) |
L172P |
probably benign |
Het |
| Mylip |
G |
A |
13: 45,560,178 (GRCm39) |
E205K |
probably damaging |
Het |
| Myo3b |
A |
C |
2: 70,161,224 (GRCm39) |
E1128A |
probably benign |
Het |
| Naip2 |
T |
C |
13: 100,298,362 (GRCm39) |
E558G |
probably benign |
Het |
| Naip2 |
C |
T |
13: 100,298,368 (GRCm39) |
G556D |
probably benign |
Het |
| Nlrp4d |
T |
C |
7: 10,098,194 (GRCm39) |
I823V |
probably benign |
Het |
| Odad1 |
C |
T |
7: 45,592,182 (GRCm39) |
|
probably benign |
Het |
| Rec114 |
A |
T |
9: 58,573,103 (GRCm39) |
|
probably benign |
Het |
| Rimbp2 |
C |
T |
5: 128,865,351 (GRCm39) |
A666T |
probably benign |
Het |
| Siva1 |
C |
T |
12: 112,613,355 (GRCm39) |
Q68* |
probably null |
Het |
| Slc22a27 |
T |
A |
19: 7,904,033 (GRCm39) |
I35F |
probably benign |
Het |
| Slco1a5 |
T |
A |
6: 142,200,100 (GRCm39) |
N228I |
probably damaging |
Het |
| St8sia4 |
G |
A |
1: 95,581,464 (GRCm39) |
R93C |
probably damaging |
Het |
| Tprg1 |
T |
C |
16: 25,231,593 (GRCm39) |
S190P |
probably damaging |
Het |
| Trpc6 |
A |
G |
9: 8,658,287 (GRCm39) |
|
probably null |
Het |
| Zfp629 |
C |
T |
7: 127,211,916 (GRCm39) |
|
probably benign |
Het |
| Zswim4 |
A |
G |
8: 84,946,601 (GRCm39) |
V685A |
possibly damaging |
Het |
|
| Other mutations in Vmn2r70 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00978:Vmn2r70
|
APN |
7 |
85,213,007 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01140:Vmn2r70
|
APN |
7 |
85,214,379 (GRCm39) |
nonsense |
probably null |
|
|
IGL01287:Vmn2r70
|
APN |
7 |
85,218,227 (GRCm39) |
nonsense |
probably null |
|
|
IGL01581:Vmn2r70
|
APN |
7 |
85,213,122 (GRCm39) |
splice site |
probably null |
|
|
IGL01632:Vmn2r70
|
APN |
7 |
85,215,280 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01725:Vmn2r70
|
APN |
7 |
85,208,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02244:Vmn2r70
|
APN |
7 |
85,214,211 (GRCm39) |
missense |
probably benign |
|
|
IGL02288:Vmn2r70
|
APN |
7 |
85,214,342 (GRCm39) |
missense |
probably benign |
0.31 |
|
IGL02313:Vmn2r70
|
APN |
7 |
85,214,376 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02591:Vmn2r70
|
APN |
7 |
85,214,153 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02725:Vmn2r70
|
APN |
7 |
85,214,553 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL02797:Vmn2r70
|
APN |
7 |
85,208,295 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0045:Vmn2r70
|
UTSW |
7 |
85,215,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0729:Vmn2r70
|
UTSW |
7 |
85,215,112 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0967:Vmn2r70
|
UTSW |
7 |
85,208,827 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1351:Vmn2r70
|
UTSW |
7 |
85,214,262 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1387:Vmn2r70
|
UTSW |
7 |
85,207,969 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1483:Vmn2r70
|
UTSW |
7 |
85,208,375 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1796:Vmn2r70
|
UTSW |
7 |
85,213,011 (GRCm39) |
nonsense |
probably null |
|
|
R1809:Vmn2r70
|
UTSW |
7 |
85,215,130 (GRCm39) |
missense |
probably benign |
0.23 |
|
R2154:Vmn2r70
|
UTSW |
7 |
85,212,923 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R2173:Vmn2r70
|
UTSW |
7 |
85,214,290 (GRCm39) |
missense |
probably benign |
|
|
R2334:Vmn2r70
|
UTSW |
7 |
85,208,800 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2871:Vmn2r70
|
UTSW |
7 |
85,208,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2871:Vmn2r70
|
UTSW |
7 |
85,208,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3975:Vmn2r70
|
UTSW |
7 |
85,208,540 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4525:Vmn2r70
|
UTSW |
7 |
85,208,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4527:Vmn2r70
|
UTSW |
7 |
85,208,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4535:Vmn2r70
|
UTSW |
7 |
85,214,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5181:Vmn2r70
|
UTSW |
7 |
85,208,387 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5600:Vmn2r70
|
UTSW |
7 |
85,212,935 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5641:Vmn2r70
|
UTSW |
7 |
85,208,572 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5726:Vmn2r70
|
UTSW |
7 |
85,208,315 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5943:Vmn2r70
|
UTSW |
7 |
85,215,199 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6166:Vmn2r70
|
UTSW |
7 |
85,215,189 (GRCm39) |
missense |
probably benign |
0.25 |
|
R6272:Vmn2r70
|
UTSW |
7 |
85,208,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6324:Vmn2r70
|
UTSW |
7 |
85,208,087 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6429:Vmn2r70
|
UTSW |
7 |
85,208,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6449:Vmn2r70
|
UTSW |
7 |
85,214,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6512:Vmn2r70
|
UTSW |
7 |
85,215,305 (GRCm39) |
missense |
probably benign |
|
|
R7000:Vmn2r70
|
UTSW |
7 |
85,208,819 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7141:Vmn2r70
|
UTSW |
7 |
85,208,044 (GRCm39) |
missense |
probably benign |
|
|
R7153:Vmn2r70
|
UTSW |
7 |
85,214,262 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7424:Vmn2r70
|
UTSW |
7 |
85,213,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7565:Vmn2r70
|
UTSW |
7 |
85,214,499 (GRCm39) |
missense |
probably benign |
0.35 |
|
R7567:Vmn2r70
|
UTSW |
7 |
85,214,243 (GRCm39) |
missense |
probably benign |
0.41 |
|
R7593:Vmn2r70
|
UTSW |
7 |
85,215,312 (GRCm39) |
nonsense |
probably null |
|
|
R7660:Vmn2r70
|
UTSW |
7 |
85,218,130 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7806:Vmn2r70
|
UTSW |
7 |
85,208,401 (GRCm39) |
missense |
probably benign |
|
|
R7892:Vmn2r70
|
UTSW |
7 |
85,208,588 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R7965:Vmn2r70
|
UTSW |
7 |
85,211,071 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8052:Vmn2r70
|
UTSW |
7 |
85,212,923 (GRCm39) |
missense |
probably benign |
|
|
R8251:Vmn2r70
|
UTSW |
7 |
85,215,186 (GRCm39) |
nonsense |
probably null |
|
|
R8814:Vmn2r70
|
UTSW |
7 |
85,215,169 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8934:Vmn2r70
|
UTSW |
7 |
85,211,188 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9225:Vmn2r70
|
UTSW |
7 |
85,208,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9322:Vmn2r70
|
UTSW |
7 |
85,208,498 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9430:Vmn2r70
|
UTSW |
7 |
85,215,240 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9477:Vmn2r70
|
UTSW |
7 |
85,218,244 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
Z1088:Vmn2r70
|
UTSW |
7 |
85,213,968 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
Z1176:Vmn2r70
|
UTSW |
7 |
85,218,253 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTGCACTGGACGCCAAAATAGAG -3'
(R):5'- CTGGCTTTCAAGATAACTGTCCCCG -3'
Sequencing Primer
(F):5'- TCCACGGCAACCATAGTCTTG -3'
(R):5'- CTGTCCCCGGAAGAAGAATG -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation