Incidental Mutation 'R8914:Vmn2r117'
| ID |
678855 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r117
|
| Ensembl Gene |
ENSMUSG00000091407 |
| Gene Name |
vomeronasal 2, receptor 117 |
| Synonyms |
EG619788, V2Rp6 |
| MMRRC Submission |
068766-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R8914 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
23678649-23698571 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 23679143 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 694
(V694I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126885
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000171996]
|
| AlphaFold |
K7N6V1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171996
AA Change: V694I
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000126885
Gene: ENSMUSG00000091407
AA Change: V694I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
73 |
471 |
2.6e-28 |
PFAM |
|
Pfam:NCD3G
|
512 |
565 |
5e-20 |
PFAM |
|
Pfam:7tm_3
|
595 |
833 |
8.2e-54 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (62/62) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5330417H12Rik |
C |
T |
7: 107,223,922 (GRCm39) |
E51K |
unknown |
Het |
| Akr1c20 |
T |
C |
13: 4,561,215 (GRCm39) |
D146G |
probably benign |
Het |
| Anapc4 |
T |
A |
5: 53,000,843 (GRCm39) |
C205* |
probably null |
Het |
| Ap3s2 |
A |
G |
7: 79,564,911 (GRCm39) |
I86T |
probably benign |
Het |
| Arih2 |
C |
G |
9: 108,488,938 (GRCm39) |
R260P |
probably damaging |
Het |
| Atp9a |
C |
T |
2: 168,479,420 (GRCm39) |
|
probably null |
Het |
| Bcl11b |
C |
A |
12: 107,883,163 (GRCm39) |
R384L |
probably damaging |
Het |
| Bltp3a |
T |
G |
17: 28,105,887 (GRCm39) |
D804E |
possibly damaging |
Het |
| Brca2 |
T |
A |
5: 150,465,208 (GRCm39) |
D1657E |
probably damaging |
Het |
| Cabyr |
C |
A |
18: 12,884,077 (GRCm39) |
T188N |
probably damaging |
Het |
| Capn5 |
C |
A |
7: 97,784,997 (GRCm39) |
W159L |
probably damaging |
Het |
| Ccdc121rt3 |
A |
T |
5: 112,503,087 (GRCm39) |
Y206N |
probably damaging |
Het |
| Ccnl1 |
A |
T |
3: 65,854,080 (GRCm39) |
S514T |
unknown |
Het |
| Cdk14 |
G |
T |
5: 5,086,515 (GRCm39) |
H286Q |
possibly damaging |
Het |
| Cpsf3 |
T |
A |
12: 21,345,112 (GRCm39) |
H141Q |
probably damaging |
Het |
| Ddx24 |
A |
G |
12: 103,390,665 (GRCm39) |
S109P |
possibly damaging |
Het |
| Dnmt3a |
A |
T |
12: 3,916,192 (GRCm39) |
R126* |
probably null |
Het |
| Dpys |
C |
A |
15: 39,720,619 (GRCm39) |
R47L |
probably benign |
Het |
| Dync1li2 |
A |
G |
8: 105,152,090 (GRCm39) |
V361A |
probably benign |
Het |
| Epha7 |
T |
G |
4: 28,963,892 (GRCm39) |
D962E |
probably damaging |
Het |
| Erh |
G |
T |
12: 80,684,282 (GRCm39) |
A65E |
probably benign |
Het |
| Fyb2 |
T |
C |
4: 104,857,700 (GRCm39) |
S626P |
probably benign |
Het |
| Gtpbp1 |
T |
A |
15: 79,600,393 (GRCm39) |
V442D |
probably damaging |
Het |
| Hecw1 |
T |
A |
13: 14,422,188 (GRCm39) |
I973F |
probably damaging |
Het |
| Igkv1-99 |
A |
C |
6: 68,519,340 (GRCm39) |
K99T |
|
Het |
| Igkv6-14 |
C |
T |
6: 70,412,180 (GRCm39) |
V35I |
probably benign |
Het |
| Il18rap |
C |
T |
1: 40,582,177 (GRCm39) |
T366M |
probably benign |
Het |
| Klk1b9 |
C |
T |
7: 43,628,925 (GRCm39) |
T143I |
possibly damaging |
Het |
| Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,758,813 (GRCm39) |
|
probably benign |
Het |
| Mettl15 |
A |
C |
2: 108,967,625 (GRCm39) |
|
probably benign |
Het |
| Mki67 |
A |
G |
7: 135,299,595 (GRCm39) |
V1813A |
|
Het |
| Mrps30 |
A |
G |
13: 118,523,755 (GRCm39) |
Y6H |
possibly damaging |
Het |
| Mthfd1 |
T |
A |
12: 76,329,710 (GRCm39) |
I176K |
probably benign |
Het |
| Nckap5l |
C |
T |
15: 99,323,761 (GRCm39) |
G914D |
probably damaging |
Het |
| Nemf |
C |
A |
12: 69,363,089 (GRCm39) |
E930* |
probably null |
Het |
| Nuggc |
G |
A |
14: 65,879,354 (GRCm39) |
V705I |
probably benign |
Het |
| Omd |
A |
T |
13: 49,745,718 (GRCm39) |
K376M |
probably damaging |
Het |
| Or10a3n |
T |
C |
7: 108,492,736 (GRCm39) |
R298G |
probably damaging |
Het |
| Or2n1d |
A |
T |
17: 38,646,320 (GRCm39) |
T91S |
possibly damaging |
Het |
| Or4k42 |
C |
A |
2: 111,320,004 (GRCm39) |
L166F |
probably damaging |
Het |
| Or51l14 |
T |
A |
7: 103,101,090 (GRCm39) |
L182Q |
probably damaging |
Het |
| Or5g27 |
A |
G |
2: 85,410,056 (GRCm39) |
T158A |
possibly damaging |
Het |
| Or5p68 |
A |
G |
7: 107,945,759 (GRCm39) |
V143A |
probably benign |
Het |
| Or6c200-ps1 |
C |
A |
10: 128,871,372 (GRCm39) |
M2I |
probably benign |
Het |
| Pi15 |
A |
G |
1: 17,691,962 (GRCm39) |
Y217C |
probably damaging |
Het |
| Pou5f1 |
T |
C |
17: 35,821,371 (GRCm39) |
S328P |
probably benign |
Het |
| Pparg |
T |
A |
6: 115,440,133 (GRCm39) |
S236T |
probably benign |
Het |
| Prss23 |
T |
C |
7: 89,159,854 (GRCm39) |
T72A |
probably benign |
Het |
| Ptprb |
C |
A |
10: 116,158,567 (GRCm39) |
S546* |
probably null |
Het |
| Ranbp9 |
A |
G |
13: 43,578,560 (GRCm39) |
I171T |
probably benign |
Het |
| Rap1gap2 |
A |
T |
11: 74,326,587 (GRCm39) |
L160* |
probably null |
Het |
| Rfxap |
T |
C |
3: 54,715,042 (GRCm39) |
T19A |
probably benign |
Het |
| Sctr |
T |
A |
1: 119,959,386 (GRCm39) |
F95I |
probably benign |
Het |
| Sf3b3 |
T |
A |
8: 111,540,439 (GRCm39) |
Q994L |
probably benign |
Het |
| Slfn9 |
A |
T |
11: 82,872,132 (GRCm39) |
I868N |
probably damaging |
Het |
| Top3a |
A |
T |
11: 60,631,405 (GRCm39) |
C986S |
probably damaging |
Het |
| Trak1 |
T |
A |
9: 121,272,847 (GRCm39) |
L245Q |
unknown |
Het |
| Trim27 |
A |
G |
13: 21,364,993 (GRCm39) |
D110G |
possibly damaging |
Het |
| Ubxn2a |
T |
C |
12: 4,930,754 (GRCm39) |
D202G |
probably benign |
Het |
| Urb1 |
T |
C |
16: 90,607,122 (GRCm39) |
K36R |
probably damaging |
Het |
| Usp34 |
A |
G |
11: 23,293,604 (GRCm39) |
T252A |
|
Het |
| Vmn1r73 |
C |
A |
7: 11,490,328 (GRCm39) |
H49N |
probably damaging |
Het |
| Vmn2r26 |
T |
C |
6: 124,038,983 (GRCm39) |
F853L |
probably benign |
Het |
| Vmn2r55 |
A |
T |
7: 12,405,024 (GRCm39) |
H126Q |
probably benign |
Het |
|
| Other mutations in Vmn2r117 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00990:Vmn2r117
|
APN |
17 |
23,698,520 (GRCm39) |
missense |
probably benign |
|
|
IGL00990:Vmn2r117
|
APN |
17 |
23,696,814 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00990:Vmn2r117
|
APN |
17 |
23,694,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01078:Vmn2r117
|
APN |
17 |
23,696,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01139:Vmn2r117
|
APN |
17 |
23,696,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01374:Vmn2r117
|
APN |
17 |
23,697,356 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL01779:Vmn2r117
|
APN |
17 |
23,696,215 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02283:Vmn2r117
|
APN |
17 |
23,694,356 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02527:Vmn2r117
|
APN |
17 |
23,696,199 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL02612:Vmn2r117
|
APN |
17 |
23,678,758 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02887:Vmn2r117
|
APN |
17 |
23,694,552 (GRCm39) |
splice site |
probably benign |
|
|
IGL03167:Vmn2r117
|
APN |
17 |
23,696,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0315:Vmn2r117
|
UTSW |
17 |
23,679,139 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0610:Vmn2r117
|
UTSW |
17 |
23,694,488 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0747:Vmn2r117
|
UTSW |
17 |
23,694,477 (GRCm39) |
nonsense |
probably null |
|
|
R1411:Vmn2r117
|
UTSW |
17 |
23,679,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1471:Vmn2r117
|
UTSW |
17 |
23,697,447 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1853:Vmn2r117
|
UTSW |
17 |
23,696,429 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1925:Vmn2r117
|
UTSW |
17 |
23,697,363 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1940:Vmn2r117
|
UTSW |
17 |
23,696,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2005:Vmn2r117
|
UTSW |
17 |
23,696,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2082:Vmn2r117
|
UTSW |
17 |
23,679,230 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R2698:Vmn2r117
|
UTSW |
17 |
23,678,885 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2972:Vmn2r117
|
UTSW |
17 |
23,678,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2973:Vmn2r117
|
UTSW |
17 |
23,678,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2974:Vmn2r117
|
UTSW |
17 |
23,678,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3160:Vmn2r117
|
UTSW |
17 |
23,679,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3161:Vmn2r117
|
UTSW |
17 |
23,679,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3162:Vmn2r117
|
UTSW |
17 |
23,679,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3847:Vmn2r117
|
UTSW |
17 |
23,679,389 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3848:Vmn2r117
|
UTSW |
17 |
23,679,389 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4082:Vmn2r117
|
UTSW |
17 |
23,679,080 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4320:Vmn2r117
|
UTSW |
17 |
23,698,487 (GRCm39) |
frame shift |
probably null |
|
|
R4560:Vmn2r117
|
UTSW |
17 |
23,678,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4658:Vmn2r117
|
UTSW |
17 |
23,697,390 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4881:Vmn2r117
|
UTSW |
17 |
23,696,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4908:Vmn2r117
|
UTSW |
17 |
23,678,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4910:Vmn2r117
|
UTSW |
17 |
23,698,487 (GRCm39) |
frame shift |
probably null |
|
|
R5078:Vmn2r117
|
UTSW |
17 |
23,679,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5327:Vmn2r117
|
UTSW |
17 |
23,696,848 (GRCm39) |
nonsense |
probably null |
|
|
R5774:Vmn2r117
|
UTSW |
17 |
23,696,176 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6014:Vmn2r117
|
UTSW |
17 |
23,698,535 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6390:Vmn2r117
|
UTSW |
17 |
23,679,088 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6520:Vmn2r117
|
UTSW |
17 |
23,679,193 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6674:Vmn2r117
|
UTSW |
17 |
23,679,023 (GRCm39) |
nonsense |
probably null |
|
|
R6736:Vmn2r117
|
UTSW |
17 |
23,697,282 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6909:Vmn2r117
|
UTSW |
17 |
23,698,479 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R6913:Vmn2r117
|
UTSW |
17 |
23,698,537 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7220:Vmn2r117
|
UTSW |
17 |
23,696,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7260:Vmn2r117
|
UTSW |
17 |
23,694,359 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7440:Vmn2r117
|
UTSW |
17 |
23,694,539 (GRCm39) |
missense |
probably benign |
0.26 |
|
R7443:Vmn2r117
|
UTSW |
17 |
23,679,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7443:Vmn2r117
|
UTSW |
17 |
23,679,107 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7449:Vmn2r117
|
UTSW |
17 |
23,678,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7644:Vmn2r117
|
UTSW |
17 |
23,696,265 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7914:Vmn2r117
|
UTSW |
17 |
23,679,100 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8001:Vmn2r117
|
UTSW |
17 |
23,698,381 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8029:Vmn2r117
|
UTSW |
17 |
23,696,744 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8340:Vmn2r117
|
UTSW |
17 |
23,679,511 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8519:Vmn2r117
|
UTSW |
17 |
23,698,442 (GRCm39) |
missense |
probably benign |
|
|
R8723:Vmn2r117
|
UTSW |
17 |
23,696,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9010:Vmn2r117
|
UTSW |
17 |
23,679,445 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9129:Vmn2r117
|
UTSW |
17 |
23,678,918 (GRCm39) |
nonsense |
probably null |
|
|
R9244:Vmn2r117
|
UTSW |
17 |
23,696,589 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9464:Vmn2r117
|
UTSW |
17 |
23,696,578 (GRCm39) |
missense |
probably benign |
0.23 |
|
R9620:Vmn2r117
|
UTSW |
17 |
23,697,450 (GRCm39) |
missense |
probably damaging |
0.97 |
|
V5622:Vmn2r117
|
UTSW |
17 |
23,698,479 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
V5622:Vmn2r117
|
UTSW |
17 |
23,696,814 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Vmn2r117
|
UTSW |
17 |
23,678,740 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGGTAGCCAAGTATCCCAG -3'
(R):5'- GTGAAGCACCACAGTACTCC -3'
Sequencing Primer
(F):5'- CAGAACACAGTAAAATGCATTGACTG -3'
(R):5'- CAGTACTCCAATTGTTAAGGCC -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation