Incidental Mutation 'R1574:Vmn2r116'
| ID |
171058 |
| 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: 0.060)
|
| Stock # |
R1574 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
23603777-23620838 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 23606063 bp (GRCm39)
|
| 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: 98.3%
- 3x: 96.3%
- 10x: 84.0%
- 20x: 52.1%
|
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl3 |
T |
A |
5: 81,935,296 (GRCm39) |
N1276K |
probably damaging |
Het |
| Als2cl |
A |
G |
9: 110,713,128 (GRCm39) |
E6G |
probably damaging |
Het |
| Ankrd12 |
A |
T |
17: 66,293,269 (GRCm39) |
D721E |
probably benign |
Het |
| Anpep |
A |
G |
7: 79,488,155 (GRCm39) |
|
probably null |
Het |
| Apob |
A |
T |
12: 8,040,839 (GRCm39) |
I655L |
possibly damaging |
Het |
| Atp2b1 |
T |
A |
10: 98,832,810 (GRCm39) |
L437Q |
probably damaging |
Het |
| Cacna2d3 |
T |
A |
14: 29,073,779 (GRCm39) |
R222S |
probably damaging |
Het |
| Cenpf |
C |
T |
1: 189,384,910 (GRCm39) |
D2457N |
probably damaging |
Het |
| Cenpo |
A |
T |
12: 4,265,433 (GRCm39) |
|
probably null |
Het |
| Ces2b |
G |
T |
8: 105,562,521 (GRCm39) |
A284S |
probably benign |
Het |
| Clock |
T |
C |
5: 76,390,679 (GRCm39) |
D311G |
probably damaging |
Het |
| Csmd3 |
T |
C |
15: 47,559,257 (GRCm39) |
|
probably null |
Het |
| D430041D05Rik |
GTGATGATGATGATGATGATG |
GTGATGATGATGATGATG |
2: 104,051,553 (GRCm39) |
|
probably benign |
Het |
| Dbil5 |
A |
G |
11: 76,109,308 (GRCm39) |
M71V |
probably benign |
Het |
| Ddhd1 |
A |
C |
14: 45,833,004 (GRCm39) |
L864R |
probably damaging |
Het |
| Dnah11 |
A |
G |
12: 118,024,052 (GRCm39) |
C1900R |
probably damaging |
Het |
| Dnah2 |
A |
G |
11: 69,405,514 (GRCm39) |
V666A |
probably benign |
Het |
| Dnah5 |
T |
A |
15: 28,252,569 (GRCm39) |
M754K |
probably benign |
Het |
| Dnajc15 |
A |
T |
14: 78,063,854 (GRCm39) |
S145T |
probably benign |
Het |
| Drap1 |
A |
G |
19: 5,474,285 (GRCm39) |
F25S |
probably damaging |
Het |
| Fam83e |
G |
A |
7: 45,376,135 (GRCm39) |
E283K |
probably damaging |
Het |
| Fbxo48 |
G |
T |
11: 16,903,368 (GRCm39) |
|
probably benign |
Het |
| Fndc3a |
A |
T |
14: 72,793,997 (GRCm39) |
I892N |
probably damaging |
Het |
| Gcn1 |
A |
G |
5: 115,753,611 (GRCm39) |
T2321A |
probably benign |
Het |
| Greb1l |
A |
G |
18: 10,554,997 (GRCm39) |
D1681G |
possibly damaging |
Het |
| Hmcn2 |
A |
C |
2: 31,294,899 (GRCm39) |
T2563P |
probably damaging |
Het |
| Iqcd |
A |
T |
5: 120,738,300 (GRCm39) |
K39N |
probably damaging |
Het |
| Kank2 |
A |
G |
9: 21,685,871 (GRCm39) |
S668P |
probably damaging |
Het |
| Kcng1 |
T |
A |
2: 168,110,961 (GRCm39) |
N68Y |
probably damaging |
Het |
| Kmt5b |
T |
A |
19: 3,836,633 (GRCm39) |
|
probably null |
Het |
| Lama2 |
T |
A |
10: 27,200,750 (GRCm39) |
I533F |
possibly damaging |
Het |
| Lcmt1 |
T |
A |
7: 123,002,131 (GRCm39) |
I132N |
probably damaging |
Het |
| Mcph1 |
T |
C |
8: 18,851,428 (GRCm39) |
I807T |
probably damaging |
Het |
| Mdn1 |
A |
G |
4: 32,722,315 (GRCm39) |
I2366V |
probably benign |
Het |
| Moxd1 |
T |
C |
10: 24,176,217 (GRCm39) |
W558R |
probably damaging |
Het |
| Mtus2 |
A |
C |
5: 148,013,362 (GRCm39) |
K52Q |
probably benign |
Het |
| Myrf |
T |
C |
19: 10,202,851 (GRCm39) |
D141G |
probably damaging |
Het |
| Naca |
G |
T |
10: 127,876,267 (GRCm39) |
|
probably benign |
Het |
| Ncoa7 |
T |
C |
10: 30,570,097 (GRCm39) |
I249M |
probably damaging |
Het |
| Obox5 |
T |
C |
7: 15,492,558 (GRCm39) |
V171A |
probably damaging |
Het |
| Or13e8 |
A |
T |
4: 43,697,134 (GRCm39) |
V13D |
possibly damaging |
Het |
| Or13p3 |
T |
A |
4: 118,566,751 (GRCm39) |
I49N |
probably damaging |
Het |
| Or2c1 |
T |
C |
16: 3,657,521 (GRCm39) |
I228T |
probably damaging |
Het |
| Or5ak20 |
A |
T |
2: 85,184,243 (GRCm39) |
V9E |
probably damaging |
Het |
| Or6c219 |
A |
G |
10: 129,781,379 (GRCm39) |
L69P |
probably damaging |
Het |
| Or7a36 |
C |
A |
10: 78,819,820 (GRCm39) |
N32K |
probably damaging |
Het |
| Parp4 |
A |
G |
14: 56,839,752 (GRCm39) |
T487A |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,729,845 (GRCm39) |
|
probably benign |
Het |
| Pcnx2 |
G |
A |
8: 126,500,669 (GRCm39) |
R1474C |
probably damaging |
Het |
| Pkd1l3 |
A |
G |
8: 110,341,445 (GRCm39) |
I99M |
unknown |
Het |
| Ruvbl1 |
T |
C |
6: 88,456,136 (GRCm39) |
V70A |
probably damaging |
Het |
| Sart1 |
G |
A |
19: 5,430,287 (GRCm39) |
P788L |
probably damaging |
Het |
| Sdk1 |
A |
G |
5: 141,984,634 (GRCm39) |
T740A |
probably benign |
Het |
| Serpinb1c |
T |
C |
13: 33,072,979 (GRCm39) |
D61G |
possibly damaging |
Het |
| Sfi1 |
TCGC |
TC |
11: 3,096,254 (GRCm39) |
|
probably null |
Het |
| Slc24a5 |
G |
A |
2: 124,922,782 (GRCm39) |
G152S |
probably damaging |
Het |
| Slc6a4 |
A |
T |
11: 76,910,022 (GRCm39) |
I426F |
possibly damaging |
Het |
| Srsf4 |
T |
A |
4: 131,625,006 (GRCm39) |
D134E |
probably damaging |
Het |
| Stk33 |
C |
T |
7: 108,879,027 (GRCm39) |
V441I |
probably benign |
Het |
| Sult1c2 |
A |
G |
17: 54,143,927 (GRCm39) |
|
probably null |
Het |
| Tdpoz4 |
T |
A |
3: 93,703,835 (GRCm39) |
V44E |
probably benign |
Het |
| Tdrd6 |
G |
A |
17: 43,936,515 (GRCm39) |
S1511L |
probably damaging |
Het |
| Tmprss13 |
C |
A |
9: 45,254,529 (GRCm39) |
T432K |
probably damaging |
Het |
| Traf7 |
A |
G |
17: 24,729,527 (GRCm39) |
L428P |
probably damaging |
Het |
| Tubb1 |
T |
C |
2: 174,299,215 (GRCm39) |
I299T |
probably benign |
Het |
| Vmn1r158 |
A |
T |
7: 22,489,772 (GRCm39) |
W146R |
probably damaging |
Het |
| Vmn1r42 |
A |
G |
6: 89,822,059 (GRCm39) |
I170T |
possibly damaging |
Het |
| Vmn1r42 |
C |
T |
6: 89,822,363 (GRCm39) |
G69S |
probably damaging |
Het |
| Zfp516 |
T |
A |
18: 83,011,300 (GRCm39) |
L1111H |
possibly damaging |
Het |
| Zfp61 |
C |
G |
7: 23,990,635 (GRCm39) |
K505N |
probably damaging |
Het |
| Zfp653 |
C |
A |
9: 21,969,274 (GRCm39) |
E331* |
probably null |
Het |
| Zfp949 |
A |
T |
9: 88,451,830 (GRCm39) |
K467* |
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 |
|
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 |
|
R9449:Vmn2r116
|
UTSW |
17 |
23,605,919 (GRCm39) |
missense |
probably benign |
0.01 |
|
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'- GGAACTTTTCATCCTGCCCTGAGTG -3'
(R):5'- ATGGGCAAAAGCATACACAGCATTG -3'
Sequencing Primer
(F):5'- TGGTCATCTCAGACAGTGATCAAG -3'
(R):5'- ACTCTCTTCAATAAAGGCCATGTC -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation