Incidental Mutation 'R9449:Vmn2r116'
| ID |
714160 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r116
|
| Ensembl Gene |
ENSMUSG00000090966 |
| Gene Name |
vomeronasal 2, receptor 116 |
| Synonyms |
V2Rp5, EG619697 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R9449 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
23603777-23620838 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 23605919 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 277
(D277G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128106
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164856]
|
| AlphaFold |
E9Q6I0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164856
AA Change: D277G
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000128106
Gene: ENSMUSG00000090966
AA Change: D277G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
73 |
469 |
4.4e-30 |
PFAM |
|
Pfam:NCD3G
|
511 |
564 |
1.2e-22 |
PFAM |
|
low complexity region
|
589 |
594 |
N/A |
INTRINSIC |
|
Pfam:7tm_3
|
595 |
832 |
8.7e-57 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Female mice homozygous for a knock-out allele stimulated with male pheromone (Gm6084) fail to exhibit an increase in lordosis behavior and successful intromission. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2200002D01Rik |
CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC |
CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC |
7: 28,947,048 (GRCm39) |
|
probably benign |
Het |
| Aarsd1 |
A |
C |
11: 101,301,597 (GRCm39) |
S262A |
probably benign |
Het |
| Abhd17c |
A |
G |
7: 83,763,637 (GRCm39) |
Y189H |
probably damaging |
Het |
| Adam33 |
T |
C |
2: 130,895,606 (GRCm39) |
R570G |
possibly damaging |
Het |
| Alpk2 |
G |
A |
18: 65,424,464 (GRCm39) |
R1441W |
probably damaging |
Het |
| Arhgap21 |
A |
G |
2: 20,885,464 (GRCm39) |
V581A |
probably benign |
Het |
| Bcat2 |
T |
C |
7: 45,234,980 (GRCm39) |
V226A |
possibly damaging |
Het |
| Cdh10 |
A |
G |
15: 19,013,521 (GRCm39) |
N707S |
possibly damaging |
Het |
| Chd9 |
T |
C |
8: 91,659,174 (GRCm39) |
F45L |
unknown |
Het |
| Clec1a |
T |
C |
6: 129,428,606 (GRCm39) |
T25A |
probably benign |
Het |
| Cps1 |
T |
C |
1: 67,259,671 (GRCm39) |
F1338L |
probably damaging |
Het |
| Cthrc1 |
A |
G |
15: 38,947,868 (GRCm39) |
T196A |
probably benign |
Het |
| Ctsm |
A |
T |
13: 61,686,299 (GRCm39) |
V228D |
probably damaging |
Het |
| Dennd3 |
A |
T |
15: 73,429,477 (GRCm39) |
D920V |
probably damaging |
Het |
| Dnah17 |
A |
G |
11: 117,987,452 (GRCm39) |
I1286T |
probably benign |
Het |
| Dnah3 |
T |
A |
7: 119,551,473 (GRCm39) |
T2949S |
probably benign |
Het |
| Dram1 |
C |
T |
10: 88,192,703 (GRCm39) |
V28M |
probably benign |
Het |
| Eml5 |
A |
G |
12: 98,827,554 (GRCm39) |
Y559H |
probably damaging |
Het |
| Ermard |
C |
T |
17: 15,273,554 (GRCm39) |
R380C |
possibly damaging |
Het |
| Fam181a |
A |
G |
12: 103,282,107 (GRCm39) |
D4G |
probably damaging |
Het |
| Gabrd |
C |
A |
4: 155,472,803 (GRCm39) |
V127L |
probably damaging |
Het |
| Galnt12 |
T |
A |
4: 47,104,163 (GRCm39) |
Y140* |
probably null |
Het |
| Gpr161 |
A |
T |
1: 165,146,389 (GRCm39) |
K442* |
probably null |
Het |
| Haus6 |
A |
T |
4: 86,513,665 (GRCm39) |
N332K |
probably benign |
Het |
| Igsf3 |
T |
A |
3: 101,358,322 (GRCm39) |
Y738N |
probably damaging |
Het |
| Itsn1 |
T |
A |
16: 91,625,264 (GRCm39) |
*622R |
probably null |
Het |
| Kcna2 |
T |
A |
3: 107,012,887 (GRCm39) |
Y489* |
probably null |
Het |
| Limk1 |
A |
G |
5: 134,701,864 (GRCm39) |
|
probably null |
Het |
| Manba |
A |
T |
3: 135,255,079 (GRCm39) |
D479V |
probably benign |
Het |
| Myh6 |
A |
T |
14: 55,189,779 (GRCm39) |
I1089N |
possibly damaging |
Het |
| Npas4 |
T |
A |
19: 5,038,492 (GRCm39) |
D142V |
probably damaging |
Het |
| Nr4a1 |
T |
C |
15: 101,168,053 (GRCm39) |
F30L |
probably benign |
Het |
| Numbl |
C |
T |
7: 26,976,327 (GRCm39) |
R336C |
|
Het |
| Or10x4 |
G |
A |
1: 174,218,742 (GRCm39) |
A36T |
probably benign |
Het |
| Or5p4 |
T |
C |
7: 107,680,040 (GRCm39) |
I13T |
|
Het |
| Parp9 |
T |
C |
16: 35,777,234 (GRCm39) |
S393P |
probably damaging |
Het |
| Pcdha11 |
A |
G |
18: 37,145,484 (GRCm39) |
E525G |
probably damaging |
Het |
| Pdia2 |
T |
C |
17: 26,416,174 (GRCm39) |
T298A |
probably benign |
Het |
| Per3 |
G |
A |
4: 151,094,945 (GRCm39) |
T946I |
probably benign |
Het |
| Pla2r1 |
A |
T |
2: 60,258,902 (GRCm39) |
V1162D |
probably damaging |
Het |
| Plxnd1 |
T |
A |
6: 115,932,730 (GRCm39) |
N1917Y |
probably damaging |
Het |
| Pole3 |
A |
T |
4: 62,442,277 (GRCm39) |
D114E |
unknown |
Het |
| Ppil3 |
T |
C |
1: 58,470,397 (GRCm39) |
D151G |
probably benign |
Het |
| Psd3 |
A |
T |
8: 68,165,833 (GRCm39) |
M365K |
unknown |
Het |
| Psme2b |
T |
G |
11: 48,836,566 (GRCm39) |
H127P |
probably damaging |
Het |
| Ric8a |
C |
G |
7: 140,437,393 (GRCm39) |
R4G |
probably benign |
Het |
| Rock2 |
A |
T |
12: 17,027,763 (GRCm39) |
D1360V |
probably damaging |
Het |
| Simc1 |
A |
G |
13: 54,674,192 (GRCm39) |
T847A |
probably benign |
Het |
| Slc12a1 |
T |
A |
2: 125,028,144 (GRCm39) |
V480E |
probably damaging |
Het |
| Slc32a1 |
T |
C |
2: 158,456,241 (GRCm39) |
F299L |
probably benign |
Het |
| Slc44a2 |
A |
G |
9: 21,258,333 (GRCm39) |
Y500C |
|
Het |
| Ssbp2 |
A |
G |
13: 91,823,157 (GRCm39) |
D192G |
probably benign |
Het |
| Stat5b |
T |
C |
11: 100,681,674 (GRCm39) |
K527E |
probably benign |
Het |
| Tm7sf3 |
C |
T |
6: 146,525,179 (GRCm39) |
D89N |
possibly damaging |
Het |
| Usp50 |
A |
G |
2: 126,619,817 (GRCm39) |
|
probably null |
Het |
| Vegfc |
A |
T |
8: 54,610,053 (GRCm39) |
M70L |
probably benign |
Het |
| Vmn1r40 |
A |
G |
6: 89,691,854 (GRCm39) |
T224A |
probably benign |
Het |
| Vti1a |
T |
A |
19: 55,612,278 (GRCm39) |
I197N |
possibly damaging |
Het |
| Zfyve9 |
C |
A |
4: 108,576,435 (GRCm39) |
L215F |
probably damaging |
Het |
| Znrf3 |
A |
T |
11: 5,288,710 (GRCm39) |
Y19* |
probably null |
Het |
|
| Other mutations in Vmn2r116 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00898:Vmn2r116
|
APN |
17 |
23,604,969 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL00985:Vmn2r116
|
APN |
17 |
23,620,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00990:Vmn2r116
|
APN |
17 |
23,606,210 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL00990:Vmn2r116
|
APN |
17 |
23,616,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01383:Vmn2r116
|
APN |
17 |
23,620,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01459:Vmn2r116
|
APN |
17 |
23,603,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01725:Vmn2r116
|
APN |
17 |
23,605,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02125:Vmn2r116
|
APN |
17 |
23,616,601 (GRCm39) |
splice site |
probably benign |
|
|
IGL02170:Vmn2r116
|
APN |
17 |
23,603,907 (GRCm39) |
missense |
probably benign |
|
|
IGL02209:Vmn2r116
|
APN |
17 |
23,607,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02226:Vmn2r116
|
APN |
17 |
23,603,808 (GRCm39) |
missense |
probably null |
|
|
IGL02272:Vmn2r116
|
APN |
17 |
23,604,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02272:Vmn2r116
|
APN |
17 |
23,604,973 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02403:Vmn2r116
|
APN |
17 |
23,606,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02686:Vmn2r116
|
APN |
17 |
23,607,767 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02750:Vmn2r116
|
APN |
17 |
23,616,608 (GRCm39) |
splice site |
probably benign |
|
|
IGL02977:Vmn2r116
|
APN |
17 |
23,607,748 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
PIT4449001:Vmn2r116
|
UTSW |
17 |
23,607,921 (GRCm39) |
missense |
probably benign |
0.41 |
|
R0015:Vmn2r116
|
UTSW |
17 |
23,620,823 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0219:Vmn2r116
|
UTSW |
17 |
23,605,072 (GRCm39) |
nonsense |
probably null |
|
|
R0281:Vmn2r116
|
UTSW |
17 |
23,620,387 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0415:Vmn2r116
|
UTSW |
17 |
23,606,253 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R0592:Vmn2r116
|
UTSW |
17 |
23,605,889 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0610:Vmn2r116
|
UTSW |
17 |
23,606,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0635:Vmn2r116
|
UTSW |
17 |
23,605,861 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0843:Vmn2r116
|
UTSW |
17 |
23,619,934 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1329:Vmn2r116
|
UTSW |
17 |
23,606,162 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1396:Vmn2r116
|
UTSW |
17 |
23,605,115 (GRCm39) |
missense |
probably benign |
|
|
R1401:Vmn2r116
|
UTSW |
17 |
23,605,570 (GRCm39) |
splice site |
probably benign |
|
|
R1574:Vmn2r116
|
UTSW |
17 |
23,606,063 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1574:Vmn2r116
|
UTSW |
17 |
23,606,063 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1766:Vmn2r116
|
UTSW |
17 |
23,620,740 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2157:Vmn2r116
|
UTSW |
17 |
23,620,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3622:Vmn2r116
|
UTSW |
17 |
23,605,025 (GRCm39) |
missense |
probably benign |
0.11 |
|
R3690:Vmn2r116
|
UTSW |
17 |
23,603,798 (GRCm39) |
missense |
unknown |
|
|
R4298:Vmn2r116
|
UTSW |
17 |
23,620,801 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R4373:Vmn2r116
|
UTSW |
17 |
23,620,395 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4860:Vmn2r116
|
UTSW |
17 |
23,620,777 (GRCm39) |
missense |
probably benign |
|
|
R4941:Vmn2r116
|
UTSW |
17 |
23,620,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5119:Vmn2r116
|
UTSW |
17 |
23,606,138 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5503:Vmn2r116
|
UTSW |
17 |
23,605,778 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5510:Vmn2r116
|
UTSW |
17 |
23,605,095 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5538:Vmn2r116
|
UTSW |
17 |
23,620,041 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5689:Vmn2r116
|
UTSW |
17 |
23,616,693 (GRCm39) |
missense |
probably benign |
0.30 |
|
R5765:Vmn2r116
|
UTSW |
17 |
23,620,378 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5794:Vmn2r116
|
UTSW |
17 |
23,604,942 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5807:Vmn2r116
|
UTSW |
17 |
23,606,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5837:Vmn2r116
|
UTSW |
17 |
23,606,054 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6262:Vmn2r116
|
UTSW |
17 |
23,606,351 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6298:Vmn2r116
|
UTSW |
17 |
23,605,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6651:Vmn2r116
|
UTSW |
17 |
23,607,805 (GRCm39) |
nonsense |
probably null |
|
|
R6667:Vmn2r116
|
UTSW |
17 |
23,620,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7393:Vmn2r116
|
UTSW |
17 |
23,605,099 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7571:Vmn2r116
|
UTSW |
17 |
23,603,830 (GRCm39) |
splice site |
probably null |
|
|
R7940:Vmn2r116
|
UTSW |
17 |
23,605,946 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8510:Vmn2r116
|
UTSW |
17 |
23,604,905 (GRCm39) |
nonsense |
probably null |
|
|
R8950:Vmn2r116
|
UTSW |
17 |
23,620,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8956:Vmn2r116
|
UTSW |
17 |
23,605,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8977:Vmn2r116
|
UTSW |
17 |
23,605,916 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R9030:Vmn2r116
|
UTSW |
17 |
23,603,864 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9077:Vmn2r116
|
UTSW |
17 |
23,604,956 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9223:Vmn2r116
|
UTSW |
17 |
23,620,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9401:Vmn2r116
|
UTSW |
17 |
23,620,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9746:Vmn2r116
|
UTSW |
17 |
23,620,797 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9755:Vmn2r116
|
UTSW |
17 |
23,620,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9759:Vmn2r116
|
UTSW |
17 |
23,620,360 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9800:Vmn2r116
|
UTSW |
17 |
23,620,399 (GRCm39) |
missense |
probably damaging |
0.97 |
|
S24628:Vmn2r116
|
UTSW |
17 |
23,606,253 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
Z1176:Vmn2r116
|
UTSW |
17 |
23,620,402 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Vmn2r116
|
UTSW |
17 |
23,607,866 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGGGTTGGTCATCTCAGACAG -3'
(R):5'- GCATTTGACAGAGTTCAATGTCTG -3'
Sequencing Primer
(F):5'- GTTGGTCATCTCAGACAGTGATCAAG -3'
(R):5'- GTCTGGACAAAATGTTTAAACCCAG -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation