Incidental Mutation 'R8977:Vmn2r116'
| ID |
683535 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r116
|
| Ensembl Gene |
ENSMUSG00000090966 |
| Gene Name |
vomeronasal 2, receptor 116 |
| Synonyms |
V2Rp5, EG619697 |
| MMRRC Submission |
068715-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R8977 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
23603777-23620838 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 23605916 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 276
(T276I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128106
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164856]
|
| AlphaFold |
E9Q6I0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000164856
AA Change: T276I
PolyPhen 2
Score 0.564 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000128106
Gene: ENSMUSG00000090966
AA Change: T276I
| 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: 99.7%
- 20x: 99.0%
|
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930438A08Rik |
A |
G |
11: 58,184,710 (GRCm39) |
E476G |
unknown |
Het |
| Aars1 |
G |
A |
8: 111,766,849 (GRCm39) |
R77Q |
probably damaging |
Het |
| Abcc10 |
C |
A |
17: 46,624,593 (GRCm39) |
V795L |
probably benign |
Het |
| Adam30 |
A |
G |
3: 98,069,378 (GRCm39) |
K276E |
probably damaging |
Het |
| Adam6b |
A |
T |
12: 113,453,996 (GRCm39) |
N271I |
probably benign |
Het |
| Adgrl2 |
T |
C |
3: 148,660,223 (GRCm39) |
I17V |
probably null |
Het |
| Anapc1 |
C |
A |
2: 128,483,322 (GRCm39) |
G1258C |
probably damaging |
Het |
| Ank2 |
G |
T |
3: 126,738,575 (GRCm39) |
H2436Q |
unknown |
Het |
| Ankrd13a |
A |
T |
5: 114,933,806 (GRCm39) |
K267* |
probably null |
Het |
| Apob |
T |
C |
12: 8,065,990 (GRCm39) |
Y4320H |
probably damaging |
Het |
| Atp2b2 |
T |
C |
6: 113,750,325 (GRCm39) |
D678G |
probably damaging |
Het |
| Bhlhe41 |
C |
A |
6: 145,809,096 (GRCm39) |
V239F |
possibly damaging |
Het |
| Cbfa2t2 |
T |
G |
2: 154,342,410 (GRCm39) |
L42R |
probably benign |
Het |
| Ccer2 |
G |
A |
7: 28,456,113 (GRCm39) |
V52M |
probably damaging |
Het |
| Ccnj |
T |
C |
19: 40,833,383 (GRCm39) |
F187S |
probably damaging |
Het |
| Cd109 |
G |
A |
9: 78,614,810 (GRCm39) |
V1286I |
probably benign |
Het |
| Cfap210 |
T |
C |
2: 69,617,643 (GRCm39) |
H46R |
possibly damaging |
Het |
| Cfap46 |
G |
T |
7: 139,259,849 (GRCm39) |
T148N |
probably benign |
Het |
| Chmp7 |
A |
G |
14: 69,958,684 (GRCm39) |
V210A |
probably benign |
Het |
| Cuzd1 |
A |
G |
7: 130,923,754 (GRCm39) |
F8S |
probably benign |
Het |
| Dnmbp |
A |
T |
19: 43,840,751 (GRCm39) |
D549E |
probably damaging |
Het |
| Dpp4 |
A |
G |
2: 62,204,747 (GRCm39) |
L240P |
probably benign |
Het |
| Dst |
A |
T |
1: 34,286,864 (GRCm39) |
R3398S |
probably damaging |
Het |
| Eml6 |
A |
G |
11: 29,734,182 (GRCm39) |
I1186T |
possibly damaging |
Het |
| Extl1 |
T |
C |
4: 134,086,435 (GRCm39) |
E540G |
possibly damaging |
Het |
| Gdpd5 |
A |
G |
7: 99,103,057 (GRCm39) |
I339V |
probably benign |
Het |
| Ggcx |
T |
C |
6: 72,406,265 (GRCm39) |
|
probably null |
Het |
| Gm9195 |
A |
G |
14: 72,691,338 (GRCm39) |
F1637L |
unknown |
Het |
| Igkv5-48 |
G |
C |
6: 69,703,616 (GRCm39) |
N96K |
possibly damaging |
Het |
| Itga11 |
T |
C |
9: 62,662,922 (GRCm39) |
I546T |
probably damaging |
Het |
| Map3k5 |
T |
A |
10: 19,955,000 (GRCm39) |
F624L |
possibly damaging |
Het |
| Map7 |
T |
A |
10: 20,145,336 (GRCm39) |
|
probably null |
Het |
| Mdga2 |
A |
T |
12: 66,844,409 (GRCm39) |
D196E |
possibly damaging |
Het |
| Mettl2 |
T |
C |
11: 105,019,791 (GRCm39) |
C143R |
probably benign |
Het |
| Mmut |
G |
T |
17: 41,249,481 (GRCm39) |
R152L |
probably benign |
Het |
| Ncam1 |
G |
T |
9: 49,418,825 (GRCm39) |
T825K |
probably damaging |
Het |
| Nucb2 |
C |
A |
7: 116,128,063 (GRCm39) |
N257K |
probably benign |
Het |
| Or1e19 |
A |
G |
11: 73,316,651 (GRCm39) |
S53P |
probably benign |
Het |
| Or1p1c |
A |
T |
11: 74,160,304 (GRCm39) |
I30F |
probably benign |
Het |
| Or2b7 |
T |
A |
13: 21,740,016 (GRCm39) |
M59L |
possibly damaging |
Het |
| Or51i1 |
A |
T |
7: 103,670,762 (GRCm39) |
Y254* |
probably null |
Het |
| Or52n1 |
A |
T |
7: 104,383,248 (GRCm39) |
F108I |
probably damaging |
Het |
| Or8k38 |
C |
T |
2: 86,488,472 (GRCm39) |
C110Y |
probably benign |
Het |
| Pamr1 |
T |
A |
2: 102,441,963 (GRCm39) |
V184D |
probably damaging |
Het |
| Paqr9 |
A |
T |
9: 95,442,888 (GRCm39) |
I293F |
possibly damaging |
Het |
| Pi15 |
G |
T |
1: 17,690,126 (GRCm39) |
|
probably null |
Het |
| Pkm |
T |
A |
9: 59,578,923 (GRCm39) |
I301N |
probably damaging |
Het |
| Pramel1 |
T |
A |
4: 143,123,961 (GRCm39) |
I212N |
probably benign |
Het |
| Prdm6 |
A |
T |
18: 53,701,373 (GRCm39) |
I549F |
probably damaging |
Het |
| Prpf8 |
A |
G |
11: 75,386,870 (GRCm39) |
E1105G |
probably benign |
Het |
| Rad51b |
T |
A |
12: 79,704,662 (GRCm39) |
V274E |
probably damaging |
Het |
| Rd3l |
T |
A |
12: 111,946,593 (GRCm39) |
Y61F |
probably damaging |
Het |
| Resf1 |
T |
A |
6: 149,229,906 (GRCm39) |
I984N |
probably damaging |
Het |
| Rgs11 |
T |
C |
17: 26,427,233 (GRCm39) |
V388A |
probably damaging |
Het |
| Rictor |
A |
G |
15: 6,812,566 (GRCm39) |
I901V |
probably benign |
Het |
| Riox2 |
A |
G |
16: 59,312,195 (GRCm39) |
D444G |
probably benign |
Het |
| Scn2a |
T |
A |
2: 65,594,014 (GRCm39) |
V1621E |
probably damaging |
Het |
| Sec11c |
A |
G |
18: 65,945,818 (GRCm39) |
I94V |
possibly damaging |
Het |
| Sfi1 |
ACA |
ACATCTTCCCAAAGCCAGTCA |
11: 3,103,382 (GRCm39) |
|
probably benign |
Het |
| Slc34a1 |
T |
C |
13: 55,556,815 (GRCm39) |
I337T |
probably benign |
Het |
| Slc6a19 |
T |
C |
13: 73,830,269 (GRCm39) |
K516E |
probably benign |
Het |
| Slco1b2 |
A |
T |
6: 141,628,980 (GRCm39) |
M596L |
probably benign |
Het |
| Smarce1 |
A |
G |
11: 99,110,511 (GRCm39) |
I100T |
possibly damaging |
Het |
| Stk32c |
A |
T |
7: 138,705,161 (GRCm39) |
M119K |
possibly damaging |
Het |
| Tekt2 |
T |
C |
4: 126,217,266 (GRCm39) |
|
probably null |
Het |
| Tenm4 |
A |
T |
7: 96,461,177 (GRCm39) |
N908Y |
probably damaging |
Het |
| Tex38 |
A |
G |
4: 115,637,792 (GRCm39) |
S4P |
probably benign |
Het |
| Top2b |
T |
A |
14: 16,393,239 (GRCm38) |
H299Q |
probably benign |
Het |
| Trim55 |
C |
A |
3: 19,713,341 (GRCm39) |
R131S |
probably benign |
Het |
| Vmn2r109 |
A |
T |
17: 20,774,531 (GRCm39) |
Y275N |
possibly damaging |
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 |
|
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'- GGTAGGGTTGGTCATCTCAGAC -3'
(R):5'- TTTGACAGAGTTCAATGTCTGGAC -3'
Sequencing Primer
(F):5'- GTTGGTCATCTCAGACAGTGATCAAG -3'
(R):5'- GTCTGGACAAAATGTTTAAACCCAG -3'
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| Posted On |
2021-10-11 |
Incidental Mutation