Incidental Mutation 'R5641:Vmn2r70'
| ID |
440671 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r70
|
| Ensembl Gene |
ENSMUSG00000090806 |
| Gene Name |
vomeronasal 2, receptor 70 |
| Synonyms |
EG620835 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.130)
|
| Stock # |
R5641 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
85207911-85218296 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 85208572 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 635
(C635Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129703
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168230]
|
| AlphaFold |
K7N702 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168230
AA Change: C635Y
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000129703
Gene: ENSMUSG00000090806
AA Change: C635Y
| 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 |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
A |
T |
16: 14,289,877 (GRCm39) |
M1398L |
probably benign |
Het |
| Acad12 |
A |
G |
5: 121,742,084 (GRCm39) |
|
probably benign |
Het |
| Aldh1a7 |
T |
C |
19: 20,693,293 (GRCm39) |
I209V |
probably benign |
Het |
| Alkal2 |
G |
A |
12: 30,937,264 (GRCm39) |
|
probably null |
Het |
| Aqr |
A |
G |
2: 113,979,515 (GRCm39) |
F307L |
probably damaging |
Het |
| Atp2a2 |
A |
G |
5: 122,595,639 (GRCm39) |
L932P |
probably damaging |
Het |
| Atxn7 |
T |
C |
14: 14,013,638 (GRCm38) |
M113T |
probably damaging |
Het |
| Blzf1 |
T |
A |
1: 164,134,038 (GRCm39) |
M4L |
probably benign |
Het |
| Brca2 |
C |
A |
5: 150,480,364 (GRCm39) |
S2711R |
probably damaging |
Het |
| Bzw1 |
A |
T |
1: 58,436,883 (GRCm39) |
Q70L |
probably damaging |
Het |
| Cd34 |
T |
A |
1: 194,630,276 (GRCm39) |
I70N |
probably benign |
Het |
| Chac1 |
A |
G |
2: 119,181,999 (GRCm39) |
Y39C |
probably damaging |
Het |
| Col6a2 |
G |
C |
10: 76,449,112 (GRCm39) |
P275A |
probably damaging |
Het |
| Crb1 |
T |
A |
1: 139,176,627 (GRCm39) |
N452I |
probably damaging |
Het |
| Ctrc |
T |
C |
4: 141,566,094 (GRCm39) |
N188S |
probably damaging |
Het |
| Dnah7b |
G |
A |
1: 46,307,924 (GRCm39) |
|
probably null |
Het |
| Etl4 |
GGGGAAGAACCGG |
GGG |
2: 20,811,273 (GRCm39) |
|
probably null |
Het |
| Exoc6 |
T |
A |
19: 37,576,081 (GRCm39) |
|
probably null |
Het |
| Gm5616 |
T |
A |
9: 48,361,716 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7535 |
T |
C |
17: 18,131,788 (GRCm39) |
|
probably benign |
Het |
| Hnrnpr |
T |
C |
4: 136,059,798 (GRCm39) |
S200P |
probably damaging |
Het |
| Ighg2b |
T |
C |
12: 113,270,767 (GRCm39) |
N121S |
unknown |
Het |
| Il21 |
T |
A |
3: 37,281,917 (GRCm39) |
K76* |
probably null |
Het |
| Jup |
T |
A |
11: 100,267,632 (GRCm39) |
T564S |
possibly damaging |
Het |
| Kcns2 |
G |
C |
15: 34,839,199 (GRCm39) |
R187S |
possibly damaging |
Het |
| Klhl18 |
G |
A |
9: 110,275,896 (GRCm39) |
T84M |
probably damaging |
Het |
| Mtor |
T |
A |
4: 148,630,882 (GRCm39) |
L2280M |
probably damaging |
Het |
| Ncoa6 |
A |
G |
2: 155,263,756 (GRCm39) |
I226T |
probably benign |
Het |
| Nipbl |
A |
T |
15: 8,396,196 (GRCm39) |
Y126N |
possibly damaging |
Het |
| Nlrp4a |
T |
A |
7: 26,149,589 (GRCm39) |
C399S |
probably damaging |
Het |
| Nphp3 |
A |
G |
9: 103,913,352 (GRCm39) |
K54E |
probably damaging |
Het |
| Nsun2 |
T |
A |
13: 69,771,368 (GRCm39) |
V326E |
probably benign |
Het |
| Oosp3 |
T |
C |
19: 11,674,537 (GRCm39) |
|
probably null |
Het |
| Or4k15b |
A |
G |
14: 50,272,746 (GRCm39) |
I38T |
probably benign |
Het |
| Pcdhga9 |
T |
C |
18: 37,871,301 (GRCm39) |
S377P |
probably damaging |
Het |
| Pdlim3 |
A |
G |
8: 46,368,300 (GRCm39) |
|
probably null |
Het |
| Pla2r1 |
A |
T |
2: 60,345,328 (GRCm39) |
W343R |
probably damaging |
Het |
| Prox2 |
A |
G |
12: 85,134,721 (GRCm39) |
V520A |
probably benign |
Het |
| Rfx3 |
T |
C |
19: 27,771,008 (GRCm39) |
|
probably null |
Het |
| Rif1 |
A |
C |
2: 52,011,170 (GRCm39) |
R2412S |
possibly damaging |
Het |
| Rreb1 |
T |
C |
13: 38,131,397 (GRCm39) |
L1517P |
probably benign |
Het |
| Rxfp1 |
T |
C |
3: 79,594,199 (GRCm39) |
N65S |
probably damaging |
Het |
| Sbf2 |
T |
C |
7: 110,038,108 (GRCm39) |
E399G |
probably damaging |
Het |
| Slc36a4 |
A |
C |
9: 15,640,098 (GRCm39) |
|
probably null |
Het |
| Slco1a1 |
A |
T |
6: 141,885,695 (GRCm39) |
M110K |
probably damaging |
Het |
| Stat5a |
T |
A |
11: 100,767,634 (GRCm39) |
C401S |
probably benign |
Het |
| Ticam1 |
TCACACA |
TCACA |
17: 56,577,629 (GRCm39) |
|
probably null |
Het |
| Tmem150c |
T |
C |
5: 100,231,523 (GRCm39) |
T151A |
probably damaging |
Het |
| Ube4a |
A |
T |
9: 44,862,179 (GRCm39) |
M173K |
probably damaging |
Het |
| Vmn1r188 |
A |
T |
13: 22,272,342 (GRCm39) |
S99C |
probably damaging |
Het |
| Zfp644 |
T |
C |
5: 106,767,461 (GRCm39) |
K24E |
probably 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 |
|
R1217:Vmn2r70
|
UTSW |
7 |
85,208,269 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- GTATTTTGGTGCCCCTATCTCAAG -3'
(R):5'- AAGACCATACTCTCTGCCTCG -3'
Sequencing Primer
(F):5'- ATCTCAAGCAGCCATCTCATTC -3'
(R):5'- CTCTGCCTCGAAAAAGTTGTGGC -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation