Incidental Mutation 'R1574:Vmn2r116'
| ID |
202764 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r116
|
| Ensembl Gene |
ENSMUSG00000090966 |
| Gene Name |
vomeronasal 2, receptor 116 |
| Synonyms |
V2Rp5, EG619697 |
| MMRRC Submission |
045014-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R1574 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
23384803-23401864 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 23387089 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 325
(H325L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128106
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164856]
|
| AlphaFold |
E9Q6I0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164856
AA Change: H325L
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000128106
Gene: ENSMUSG00000090966
AA Change: H325L
| 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: 97.5%
- 3x: 97.0%
- 10x: 95.5%
- 20x: 93.0%
|
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl3 |
T |
A |
5: 81,787,449 (GRCm38) |
N1276K |
probably damaging |
Het |
| Als2cl |
A |
G |
9: 110,884,060 (GRCm38) |
E6G |
probably damaging |
Het |
| Ankrd12 |
A |
T |
17: 65,986,274 (GRCm38) |
D721E |
probably benign |
Het |
| Anpep |
A |
G |
7: 79,838,407 (GRCm38) |
|
probably null |
Het |
| Apeh |
A |
T |
9: 108,092,726 (GRCm38) |
|
probably null |
Het |
| Apob |
A |
T |
12: 7,990,839 (GRCm38) |
I655L |
possibly damaging |
Het |
| Atp2b1 |
T |
A |
10: 98,996,948 (GRCm38) |
L437Q |
probably damaging |
Het |
| Cacna2d3 |
T |
A |
14: 29,351,822 (GRCm38) |
R222S |
probably damaging |
Het |
| Cdc25b |
T |
A |
2: 131,191,137 (GRCm38) |
|
probably benign |
Het |
| Cdon |
A |
G |
9: 35,452,937 (GRCm38) |
|
probably benign |
Het |
| Cenpf |
C |
T |
1: 189,652,713 (GRCm38) |
D2457N |
probably damaging |
Het |
| Cenpo |
A |
T |
12: 4,215,433 (GRCm38) |
|
probably null |
Het |
| Ces2b |
G |
T |
8: 104,835,889 (GRCm38) |
A284S |
probably benign |
Het |
| Clock |
T |
C |
5: 76,242,832 (GRCm38) |
D311G |
probably damaging |
Het |
| Csmd3 |
T |
C |
15: 47,695,861 (GRCm38) |
|
probably null |
Het |
| Dbil5 |
A |
G |
11: 76,218,482 (GRCm38) |
M71V |
probably benign |
Het |
| Ddhd1 |
A |
C |
14: 45,595,547 (GRCm38) |
L864R |
probably damaging |
Het |
| Ddx19a |
T |
C |
8: 110,993,111 (GRCm38) |
|
probably benign |
Het |
| Dnah11 |
A |
G |
12: 118,060,317 (GRCm38) |
C1900R |
probably damaging |
Het |
| Dnah2 |
A |
G |
11: 69,514,688 (GRCm38) |
V666A |
probably benign |
Het |
| Dnah5 |
T |
A |
15: 28,252,423 (GRCm38) |
M754K |
probably benign |
Het |
| Dnajc15 |
A |
T |
14: 77,826,414 (GRCm38) |
S145T |
probably benign |
Het |
| Drap1 |
A |
G |
19: 5,424,257 (GRCm38) |
F25S |
probably damaging |
Het |
| Fam83e |
G |
A |
7: 45,726,711 (GRCm38) |
E283K |
probably damaging |
Het |
| Fbxo48 |
G |
T |
11: 16,953,368 (GRCm38) |
|
probably benign |
Het |
| Fndc3a |
A |
T |
14: 72,556,557 (GRCm38) |
I892N |
probably damaging |
Het |
| Gcn1l1 |
A |
G |
5: 115,615,552 (GRCm38) |
T2321A |
probably benign |
Het |
| Gm1110 |
G |
T |
9: 26,881,126 (GRCm38) |
|
probably benign |
Het |
| Gm5499 |
T |
C |
17: 87,078,995 (GRCm38) |
|
noncoding transcript |
Het |
| Gmnc |
G |
T |
16: 26,963,979 (GRCm38) |
|
probably benign |
Het |
| Greb1l |
A |
G |
18: 10,554,997 (GRCm38) |
D1681G |
possibly damaging |
Het |
| Hc |
G |
A |
2: 35,000,765 (GRCm38) |
|
probably benign |
Het |
| Hmcn2 |
A |
C |
2: 31,404,887 (GRCm38) |
T2563P |
probably damaging |
Het |
| Iqcd |
A |
T |
5: 120,600,235 (GRCm38) |
K39N |
probably damaging |
Het |
| Kank2 |
A |
G |
9: 21,774,575 (GRCm38) |
S668P |
probably damaging |
Het |
| Kcng1 |
T |
A |
2: 168,269,041 (GRCm38) |
N68Y |
probably damaging |
Het |
| Kmt5b |
T |
A |
19: 3,786,633 (GRCm38) |
|
probably null |
Het |
| Lama2 |
T |
A |
10: 27,324,754 (GRCm38) |
I533F |
possibly damaging |
Het |
| Lcmt1 |
T |
A |
7: 123,402,908 (GRCm38) |
I132N |
probably damaging |
Het |
| Lrmp |
T |
G |
6: 145,158,630 (GRCm38) |
|
probably benign |
Het |
| Mad2l2 |
G |
T |
4: 148,142,972 (GRCm38) |
|
probably benign |
Het |
| Mcph1 |
T |
C |
8: 18,801,412 (GRCm38) |
I807T |
probably damaging |
Het |
| Mdn1 |
A |
G |
4: 32,722,315 (GRCm38) |
I2366V |
probably benign |
Het |
| Moxd1 |
T |
C |
10: 24,300,319 (GRCm38) |
W558R |
probably damaging |
Het |
| Myh13 |
T |
C |
11: 67,362,581 (GRCm38) |
|
probably benign |
Het |
| Myrf |
T |
C |
19: 10,225,487 (GRCm38) |
D141G |
probably damaging |
Het |
| Ncoa7 |
T |
C |
10: 30,694,101 (GRCm38) |
I249M |
probably damaging |
Het |
| Obox5 |
T |
C |
7: 15,758,633 (GRCm38) |
V171A |
probably damaging |
Het |
| Olfr1352 |
C |
A |
10: 78,983,986 (GRCm38) |
N32K |
probably damaging |
Het |
| Olfr15 |
T |
C |
16: 3,839,657 (GRCm38) |
I228T |
probably damaging |
Het |
| Olfr70 |
A |
T |
4: 43,697,134 (GRCm38) |
V13D |
possibly damaging |
Het |
| Olfr818 |
A |
G |
10: 129,945,510 (GRCm38) |
L69P |
probably damaging |
Het |
| Olfr988 |
A |
T |
2: 85,353,899 (GRCm38) |
V9E |
probably damaging |
Het |
| Parp4 |
A |
G |
14: 56,602,295 (GRCm38) |
T487A |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,679,831 (GRCm38) |
|
probably benign |
Het |
| Pcnx2 |
G |
A |
8: 125,773,930 (GRCm38) |
R1474C |
probably damaging |
Het |
| Prrxl1 |
A |
G |
14: 32,605,324 (GRCm38) |
|
probably benign |
Het |
| Qtrt2 |
A |
G |
16: 43,871,832 (GRCm38) |
|
probably benign |
Het |
| Sart1 |
G |
A |
19: 5,380,259 (GRCm38) |
P788L |
probably damaging |
Het |
| Sdk1 |
A |
G |
5: 141,998,879 (GRCm38) |
T740A |
probably benign |
Het |
| Serpinb1c |
T |
C |
13: 32,888,996 (GRCm38) |
D61G |
possibly damaging |
Het |
| Slc24a5 |
G |
A |
2: 125,080,862 (GRCm38) |
G152S |
probably damaging |
Het |
| Slc6a4 |
A |
T |
11: 77,019,196 (GRCm38) |
I426F |
possibly damaging |
Het |
| Stk33 |
C |
T |
7: 109,279,820 (GRCm38) |
V441I |
probably benign |
Het |
| Sult1c2 |
A |
G |
17: 53,836,899 (GRCm38) |
|
probably null |
Het |
| Tdpoz4 |
T |
A |
3: 93,796,528 (GRCm38) |
V44E |
probably benign |
Het |
| Tmprss13 |
C |
A |
9: 45,343,231 (GRCm38) |
T432K |
probably damaging |
Het |
| Traf7 |
A |
G |
17: 24,510,553 (GRCm38) |
L428P |
probably damaging |
Het |
| Tubb1 |
T |
C |
2: 174,457,422 (GRCm38) |
I299T |
probably benign |
Het |
| Vmn1r158 |
A |
T |
7: 22,790,347 (GRCm38) |
W146R |
probably damaging |
Het |
| Vmn1r42 |
A |
G |
6: 89,845,077 (GRCm38) |
I170T |
possibly damaging |
Het |
| Zfp516 |
T |
A |
18: 82,993,175 (GRCm38) |
L1111H |
possibly damaging |
Het |
| Zfp61 |
C |
G |
7: 24,291,210 (GRCm38) |
K505N |
probably damaging |
Het |
| Zfp653 |
C |
A |
9: 22,057,978 (GRCm38) |
E331* |
probably null |
Het |
| Zfp949 |
A |
T |
9: 88,569,777 (GRCm38) |
K467* |
probably null |
Het |
|
| Other mutations in Vmn2r116 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00898:Vmn2r116
|
APN |
17 |
23,385,995 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
IGL00985:Vmn2r116
|
APN |
17 |
23,401,515 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00990:Vmn2r116
|
APN |
17 |
23,387,236 (GRCm38) |
missense |
probably benign |
0.12 |
|
IGL00990:Vmn2r116
|
APN |
17 |
23,397,727 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01383:Vmn2r116
|
APN |
17 |
23,401,601 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01459:Vmn2r116
|
APN |
17 |
23,384,929 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01725:Vmn2r116
|
APN |
17 |
23,386,645 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02125:Vmn2r116
|
APN |
17 |
23,397,627 (GRCm38) |
splice site |
probably benign |
|
|
IGL02170:Vmn2r116
|
APN |
17 |
23,384,933 (GRCm38) |
missense |
probably benign |
|
|
IGL02209:Vmn2r116
|
APN |
17 |
23,388,787 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02226:Vmn2r116
|
APN |
17 |
23,384,834 (GRCm38) |
missense |
probably null |
|
|
IGL02272:Vmn2r116
|
APN |
17 |
23,386,004 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02272:Vmn2r116
|
APN |
17 |
23,385,999 (GRCm38) |
missense |
probably benign |
0.06 |
|
IGL02403:Vmn2r116
|
APN |
17 |
23,387,364 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02686:Vmn2r116
|
APN |
17 |
23,388,793 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02750:Vmn2r116
|
APN |
17 |
23,397,634 (GRCm38) |
splice site |
probably benign |
|
|
IGL02977:Vmn2r116
|
APN |
17 |
23,388,774 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
PIT4449001:Vmn2r116
|
UTSW |
17 |
23,388,947 (GRCm38) |
missense |
probably benign |
0.41 |
|
R0015:Vmn2r116
|
UTSW |
17 |
23,401,849 (GRCm38) |
missense |
probably benign |
0.03 |
|
R0219:Vmn2r116
|
UTSW |
17 |
23,386,098 (GRCm38) |
nonsense |
probably null |
|
|
R0281:Vmn2r116
|
UTSW |
17 |
23,401,413 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R0415:Vmn2r116
|
UTSW |
17 |
23,387,279 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
R0592:Vmn2r116
|
UTSW |
17 |
23,386,915 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0610:Vmn2r116
|
UTSW |
17 |
23,387,312 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0635:Vmn2r116
|
UTSW |
17 |
23,386,887 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R0843:Vmn2r116
|
UTSW |
17 |
23,400,960 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1329:Vmn2r116
|
UTSW |
17 |
23,387,188 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R1396:Vmn2r116
|
UTSW |
17 |
23,386,141 (GRCm38) |
missense |
probably benign |
|
|
R1401:Vmn2r116
|
UTSW |
17 |
23,386,596 (GRCm38) |
splice site |
probably benign |
|
|
R1574:Vmn2r116
|
UTSW |
17 |
23,387,089 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1766:Vmn2r116
|
UTSW |
17 |
23,401,766 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2157:Vmn2r116
|
UTSW |
17 |
23,401,469 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3622:Vmn2r116
|
UTSW |
17 |
23,386,051 (GRCm38) |
missense |
probably benign |
0.11 |
|
R3690:Vmn2r116
|
UTSW |
17 |
23,384,824 (GRCm38) |
missense |
unknown |
|
|
R4298:Vmn2r116
|
UTSW |
17 |
23,401,827 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R4373:Vmn2r116
|
UTSW |
17 |
23,401,421 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4860:Vmn2r116
|
UTSW |
17 |
23,401,803 (GRCm38) |
missense |
probably benign |
|
|
R4941:Vmn2r116
|
UTSW |
17 |
23,401,142 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5119:Vmn2r116
|
UTSW |
17 |
23,387,164 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5503:Vmn2r116
|
UTSW |
17 |
23,386,804 (GRCm38) |
missense |
probably benign |
0.07 |
|
R5510:Vmn2r116
|
UTSW |
17 |
23,386,121 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5538:Vmn2r116
|
UTSW |
17 |
23,401,067 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5689:Vmn2r116
|
UTSW |
17 |
23,397,719 (GRCm38) |
missense |
probably benign |
0.30 |
|
R5765:Vmn2r116
|
UTSW |
17 |
23,401,404 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5794:Vmn2r116
|
UTSW |
17 |
23,385,968 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5807:Vmn2r116
|
UTSW |
17 |
23,387,307 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5837:Vmn2r116
|
UTSW |
17 |
23,387,080 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6262:Vmn2r116
|
UTSW |
17 |
23,387,377 (GRCm38) |
missense |
probably benign |
0.03 |
|
R6298:Vmn2r116
|
UTSW |
17 |
23,386,762 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6651:Vmn2r116
|
UTSW |
17 |
23,388,831 (GRCm38) |
nonsense |
probably null |
|
|
R6667:Vmn2r116
|
UTSW |
17 |
23,401,092 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7393:Vmn2r116
|
UTSW |
17 |
23,386,125 (GRCm38) |
missense |
probably benign |
0.14 |
|
R7571:Vmn2r116
|
UTSW |
17 |
23,384,856 (GRCm38) |
splice site |
probably null |
|
|
R7940:Vmn2r116
|
UTSW |
17 |
23,386,972 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8510:Vmn2r116
|
UTSW |
17 |
23,385,931 (GRCm38) |
nonsense |
probably null |
|
|
R8950:Vmn2r116
|
UTSW |
17 |
23,401,493 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8956:Vmn2r116
|
UTSW |
17 |
23,386,762 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8977:Vmn2r116
|
UTSW |
17 |
23,386,942 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
R9030:Vmn2r116
|
UTSW |
17 |
23,384,890 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R9077:Vmn2r116
|
UTSW |
17 |
23,385,982 (GRCm38) |
missense |
probably benign |
0.14 |
|
R9223:Vmn2r116
|
UTSW |
17 |
23,401,167 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9401:Vmn2r116
|
UTSW |
17 |
23,401,592 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9449:Vmn2r116
|
UTSW |
17 |
23,386,945 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9746:Vmn2r116
|
UTSW |
17 |
23,401,823 (GRCm38) |
missense |
probably benign |
0.08 |
|
R9755:Vmn2r116
|
UTSW |
17 |
23,401,091 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9759:Vmn2r116
|
UTSW |
17 |
23,401,386 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R9800:Vmn2r116
|
UTSW |
17 |
23,401,425 (GRCm38) |
missense |
probably damaging |
0.97 |
|
S24628:Vmn2r116
|
UTSW |
17 |
23,387,279 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
Z1176:Vmn2r116
|
UTSW |
17 |
23,401,428 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Vmn2r116
|
UTSW |
17 |
23,388,892 (GRCm38) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAAGAGCTGAAGTGTATTACAACC -3'
(R):5'- GGCCATGTCAAAAGTATGTACC -3'
Sequencing Primer
(F):5'- CATGACATCATCCACAAATGTTGTC -3'
(R):5'- TGTACCATTAACCATTTCAATGAGTG -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation