Incidental Mutation 'R9197:Vmn2r89'
| ID |
698001 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r89
|
| Ensembl Gene |
ENSMUSG00000070448 |
| Gene Name |
vomeronasal 2, receptor 89 |
| Synonyms |
V2r10, V2r11 |
| MMRRC Submission |
068956-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.147)
|
| Stock # |
R9197 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
51689419-51698750 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 51693596 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 315
(H315Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124065
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159611]
[ENSMUST00000159734]
[ENSMUST00000161670]
[ENSMUST00000162998]
|
| AlphaFold |
O35199 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000159611
AA Change: H315Q
PolyPhen 2
Score 0.698 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000124065
Gene: ENSMUSG00000070448
AA Change: H315Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
76 |
449 |
4.8e-30 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000159734
AA Change: H315Q
PolyPhen 2
Score 0.698 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000124256
Gene: ENSMUSG00000070448
AA Change: H315Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
76 |
420 |
1.1e-29 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161670
|
| SMART Domains |
Protein: ENSMUSP00000124261
Gene: ENSMUSG00000070448
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162998
|
| SMART Domains |
Protein: ENSMUSP00000125409
Gene: ENSMUSG00000068399
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Takusan
|
35 |
115 |
2.2e-25 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (44/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| BC048679 |
C |
T |
7: 81,144,966 (GRCm39) |
V126M |
probably benign |
Het |
| Brd2 |
T |
C |
17: 34,333,370 (GRCm39) |
Y427C |
probably damaging |
Het |
| Btbd1 |
T |
A |
7: 81,443,363 (GRCm39) |
T474S |
probably damaging |
Het |
| Cacna1c |
T |
C |
6: 118,590,950 (GRCm39) |
T1524A |
|
Het |
| Capn9 |
T |
A |
8: 125,340,600 (GRCm39) |
V588D |
probably damaging |
Het |
| Ccdc88b |
T |
C |
19: 6,833,213 (GRCm39) |
E278G |
probably damaging |
Het |
| Ccr3 |
T |
C |
9: 123,829,732 (GRCm39) |
S356P |
probably damaging |
Het |
| Cplane1 |
A |
T |
15: 8,280,536 (GRCm39) |
I2820F |
unknown |
Het |
| Cyfip1 |
C |
T |
7: 55,554,222 (GRCm39) |
H754Y |
probably null |
Het |
| Dolk |
A |
G |
2: 30,174,693 (GRCm39) |
S451P |
probably damaging |
Het |
| Elac2 |
G |
A |
11: 64,892,682 (GRCm39) |
A829T |
probably benign |
Het |
| Fahd2a |
T |
C |
2: 127,278,284 (GRCm39) |
I308V |
possibly damaging |
Het |
| Gm7168 |
T |
A |
17: 14,169,489 (GRCm39) |
N285K |
probably benign |
Het |
| Hgf |
T |
A |
5: 16,766,059 (GRCm39) |
V65E |
probably benign |
Het |
| Igsf21 |
A |
T |
4: 139,762,084 (GRCm39) |
L198Q |
probably benign |
Het |
| Il18rap |
C |
T |
1: 40,582,177 (GRCm39) |
T366M |
probably benign |
Het |
| Ipo4 |
C |
T |
14: 55,870,840 (GRCm39) |
R264H |
probably damaging |
Het |
| Jak2 |
C |
T |
19: 29,289,157 (GRCm39) |
T1103I |
probably benign |
Het |
| Kdm4d |
T |
A |
9: 14,375,537 (GRCm39) |
Y107F |
probably damaging |
Het |
| Lad1 |
T |
A |
1: 135,759,630 (GRCm39) |
S509T |
probably benign |
Het |
| Lhx5 |
C |
A |
5: 120,573,446 (GRCm39) |
P143Q |
possibly damaging |
Het |
| Lilra6 |
T |
C |
7: 3,915,716 (GRCm39) |
T340A |
possibly damaging |
Het |
| Lrrc4 |
T |
C |
6: 28,831,318 (GRCm39) |
H99R |
probably benign |
Het |
| Mmp11 |
T |
A |
10: 75,763,067 (GRCm39) |
D175V |
probably damaging |
Het |
| Msh2 |
T |
A |
17: 88,026,943 (GRCm39) |
M813K |
possibly damaging |
Het |
| Mvp |
T |
C |
7: 126,588,959 (GRCm39) |
N603D |
probably damaging |
Het |
| Or5k3 |
T |
A |
16: 58,969,489 (GRCm39) |
I92N |
probably damaging |
Het |
| Or8c18 |
G |
A |
9: 38,204,080 (GRCm39) |
V280M |
possibly damaging |
Het |
| Pcdha2 |
A |
C |
18: 37,072,879 (GRCm39) |
Y170S |
probably damaging |
Het |
| Pcdhb19 |
G |
A |
18: 37,631,354 (GRCm39) |
C383Y |
probably damaging |
Het |
| Pcdhga2 |
A |
T |
18: 37,804,553 (GRCm39) |
D799V |
probably benign |
Het |
| Pias3 |
A |
G |
3: 96,611,064 (GRCm39) |
Y430C |
probably benign |
Het |
| Pign |
A |
G |
1: 105,516,818 (GRCm39) |
F575L |
probably benign |
Het |
| Rin3 |
A |
T |
12: 102,335,306 (GRCm39) |
I406F |
probably benign |
Het |
| Rpgrip1 |
A |
T |
14: 52,382,857 (GRCm39) |
E674D |
possibly damaging |
Het |
| Snx13 |
T |
C |
12: 35,155,196 (GRCm39) |
V420A |
probably benign |
Het |
| Spata31d1c |
A |
T |
13: 65,183,690 (GRCm39) |
M411L |
probably benign |
Het |
| Spata31h1 |
C |
A |
10: 82,120,401 (GRCm39) |
C4203F |
possibly damaging |
Het |
| Tmem150a |
T |
G |
6: 72,333,722 (GRCm39) |
M28R |
probably benign |
Het |
| Trp53 |
T |
C |
11: 69,480,000 (GRCm39) |
Y233H |
probably damaging |
Het |
| Ufl1 |
A |
G |
4: 25,250,519 (GRCm39) |
I778T |
possibly damaging |
Het |
| Wapl |
T |
A |
14: 34,444,244 (GRCm39) |
N565K |
probably damaging |
Het |
| Zfhx2 |
G |
A |
14: 55,312,179 (GRCm39) |
Q172* |
probably null |
Het |
| Zfp592 |
T |
A |
7: 80,674,067 (GRCm39) |
S344T |
possibly damaging |
Het |
| Zfp970 |
T |
C |
2: 177,167,878 (GRCm39) |
I484T |
probably benign |
Het |
|
| Other mutations in Vmn2r89 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00433:Vmn2r89
|
APN |
14 |
51,692,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00990:Vmn2r89
|
APN |
14 |
51,694,950 (GRCm39) |
missense |
probably benign |
|
|
IGL00990:Vmn2r89
|
APN |
14 |
51,693,428 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL01991:Vmn2r89
|
APN |
14 |
51,689,676 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03073:Vmn2r89
|
APN |
14 |
51,693,528 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL03085:Vmn2r89
|
APN |
14 |
51,689,615 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03278:Vmn2r89
|
APN |
14 |
51,692,557 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0115:Vmn2r89
|
UTSW |
14 |
51,693,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0127:Vmn2r89
|
UTSW |
14 |
51,693,160 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0391:Vmn2r89
|
UTSW |
14 |
51,693,435 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0481:Vmn2r89
|
UTSW |
14 |
51,693,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0538:Vmn2r89
|
UTSW |
14 |
51,695,048 (GRCm39) |
splice site |
probably null |
|
|
R1210:Vmn2r89
|
UTSW |
14 |
51,692,427 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1332:Vmn2r89
|
UTSW |
14 |
51,692,559 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1660:Vmn2r89
|
UTSW |
14 |
51,693,693 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R1959:Vmn2r89
|
UTSW |
14 |
51,694,897 (GRCm39) |
missense |
probably benign |
0.22 |
|
R2876:Vmn2r89
|
UTSW |
14 |
51,692,541 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R3410:Vmn2r89
|
UTSW |
14 |
51,693,628 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4026:Vmn2r89
|
UTSW |
14 |
51,689,500 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R4398:Vmn2r89
|
UTSW |
14 |
51,689,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4700:Vmn2r89
|
UTSW |
14 |
51,694,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4714:Vmn2r89
|
UTSW |
14 |
51,689,688 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5162:Vmn2r89
|
UTSW |
14 |
51,693,620 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5294:Vmn2r89
|
UTSW |
14 |
51,692,570 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5811:Vmn2r89
|
UTSW |
14 |
51,693,565 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6087:Vmn2r89
|
UTSW |
14 |
51,695,033 (GRCm39) |
splice site |
probably null |
|
|
R6229:Vmn2r89
|
UTSW |
14 |
51,693,178 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6246:Vmn2r89
|
UTSW |
14 |
51,693,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6572:Vmn2r89
|
UTSW |
14 |
51,693,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7351:Vmn2r89
|
UTSW |
14 |
51,693,739 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7683:Vmn2r89
|
UTSW |
14 |
51,692,651 (GRCm39) |
missense |
probably benign |
|
|
R7974:Vmn2r89
|
UTSW |
14 |
51,693,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8047:Vmn2r89
|
UTSW |
14 |
51,692,549 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8093:Vmn2r89
|
UTSW |
14 |
51,693,699 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8348:Vmn2r89
|
UTSW |
14 |
51,692,548 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8723:Vmn2r89
|
UTSW |
14 |
51,693,910 (GRCm39) |
missense |
probably benign |
|
|
R8737:Vmn2r89
|
UTSW |
14 |
51,693,722 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8859:Vmn2r89
|
UTSW |
14 |
51,693,170 (GRCm39) |
missense |
probably benign |
|
|
R9183:Vmn2r89
|
UTSW |
14 |
51,692,501 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9377:Vmn2r89
|
UTSW |
14 |
51,692,601 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9395:Vmn2r89
|
UTSW |
14 |
51,693,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9452:Vmn2r89
|
UTSW |
14 |
51,693,288 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9457:Vmn2r89
|
UTSW |
14 |
51,693,469 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9678:Vmn2r89
|
UTSW |
14 |
51,693,511 (GRCm39) |
missense |
probably benign |
0.09 |
|
X0019:Vmn2r89
|
UTSW |
14 |
51,693,872 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCAGATATACATGACAAGGGCTAC -3'
(R):5'- GCTGTCCATTCCAATGTGTTG -3'
Sequencing Primer
(F):5'- CATCTTCAGCAAAGGTTGT -3'
(R):5'- TGTGTTGTTGGATGTAAAAAGATCC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation