Incidental Mutation 'R9800:Vmn2r116'
| ID |
735186 |
| 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: 0.062)
|
| Stock # |
R9800 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
23384803-23401864 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 23401425 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 711
(V711E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128106
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164856]
|
| AlphaFold |
E9Q6I0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164856
AA Change: V711E
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000128106
Gene: ENSMUSG00000090966
AA Change: V711E
| 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: 99.9%
- 3x: 99.8%
- 10x: 99.5%
- 20x: 98.7%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
T |
A |
7: 120,520,060 (GRCm38) |
I1009N |
possibly damaging |
Het |
| Adcy8 |
T |
A |
15: 64,699,246 (GRCm38) |
N1213Y |
probably benign |
Het |
| Ahctf1 |
T |
C |
1: 179,753,868 (GRCm38) |
S1590G |
possibly damaging |
Het |
| Ahcyl1 |
A |
T |
3: 107,670,272 (GRCm38) |
N277K |
probably damaging |
Het |
| Ank2 |
A |
T |
3: 126,946,500 (GRCm38) |
S1912T |
unknown |
Het |
| Ank3 |
T |
A |
10: 69,898,127 (GRCm38) |
N740K |
unknown |
Het |
| Atp13a3 |
A |
C |
16: 30,340,233 (GRCm38) |
I800S |
probably benign |
Het |
| AU041133 |
T |
A |
10: 82,150,845 (GRCm38) |
C111S |
probably damaging |
Het |
| Azi2 |
T |
A |
9: 118,055,856 (GRCm38) |
I211N |
probably benign |
Het |
| Btbd11 |
C |
A |
10: 85,388,215 (GRCm38) |
A296E |
unknown |
Het |
| Camk2b |
T |
C |
11: 5,972,408 (GRCm38) |
N480S |
probably damaging |
Het |
| Card6 |
A |
G |
15: 5,099,220 (GRCm38) |
V898A |
probably benign |
Het |
| Copb2 |
T |
A |
9: 98,579,028 (GRCm38) |
M381K |
probably damaging |
Het |
| Crisp1 |
A |
T |
17: 40,305,180 (GRCm38) |
M102K |
probably damaging |
Het |
| Dcxr |
A |
T |
11: 120,727,258 (GRCm38) |
|
probably benign |
Het |
| Dennd5a |
C |
A |
7: 109,901,167 (GRCm38) |
R917L |
probably benign |
Het |
| Egflam |
T |
A |
15: 7,250,044 (GRCm38) |
T494S |
probably benign |
Het |
| Fkbpl |
T |
A |
17: 34,645,717 (GRCm38) |
M153K |
probably benign |
Het |
| Helz2 |
A |
T |
2: 181,240,823 (GRCm38) |
I59N |
probably damaging |
Het |
| Ldlrap1 |
T |
C |
4: 134,749,992 (GRCm38) |
T194A |
probably benign |
Het |
| Lman1l |
T |
C |
9: 57,615,777 (GRCm38) |
D133G |
probably damaging |
Het |
| Lrrc27 |
T |
C |
7: 139,227,997 (GRCm38) |
M340T |
probably benign |
Het |
| Lum |
T |
A |
10: 97,568,295 (GRCm38) |
S17R |
probably benign |
Het |
| Malrd1 |
A |
G |
2: 15,842,594 (GRCm38) |
K1182E |
unknown |
Het |
| Map3k2 |
A |
T |
18: 32,200,016 (GRCm38) |
D81V |
possibly damaging |
Het |
| Muc5b |
A |
T |
7: 141,861,743 (GRCm38) |
T2809S |
possibly damaging |
Het |
| Nle1 |
C |
A |
11: 82,903,050 (GRCm38) |
V387L |
probably benign |
Het |
| Nr1h4 |
T |
C |
10: 89,454,756 (GRCm38) |
D474G |
probably benign |
Het |
| Nup205 |
T |
C |
6: 35,186,533 (GRCm38) |
I144T |
possibly damaging |
Het |
| Olfr1122 |
G |
T |
2: 87,388,164 (GRCm38) |
C153F |
probably damaging |
Het |
| Olfr1309 |
G |
A |
2: 111,983,849 (GRCm38) |
S75L |
possibly damaging |
Het |
| Olfr23 |
C |
A |
11: 73,941,160 (GRCm38) |
L305I |
probably benign |
Het |
| Olfr444 |
A |
T |
6: 42,956,157 (GRCm38) |
I220F |
probably damaging |
Het |
| Olfr566 |
T |
C |
7: 102,856,886 (GRCm38) |
Y132C |
probably benign |
Het |
| Olfr732 |
G |
A |
14: 50,282,244 (GRCm38) |
T3I |
probably benign |
Het |
| Pkn3 |
C |
T |
2: 30,083,278 (GRCm38) |
R371* |
probably null |
Het |
| Plin2 |
A |
T |
4: 86,668,505 (GRCm38) |
S30T |
possibly damaging |
Het |
| Ppfibp1 |
T |
C |
6: 147,016,271 (GRCm38) |
V475A |
probably benign |
Het |
| Ppp2ca |
T |
C |
11: 52,118,083 (GRCm38) |
Y137H |
probably damaging |
Het |
| Rasgrf2 |
T |
A |
13: 92,131,352 (GRCm38) |
Q48L |
probably damaging |
Het |
| Rnf168 |
G |
C |
16: 32,298,568 (GRCm38) |
V316L |
probably benign |
Het |
| Shank1 |
G |
A |
7: 44,312,918 (GRCm38) |
S71N |
unknown |
Het |
| Spata31d1d |
T |
C |
13: 59,726,823 (GRCm38) |
H966R |
possibly damaging |
Het |
| Speg |
C |
A |
1: 75,422,714 (GRCm38) |
D2268E |
probably benign |
Het |
| Srp54c |
A |
G |
12: 55,250,026 (GRCm38) |
I170V |
probably benign |
Het |
| Syde2 |
A |
G |
3: 145,998,609 (GRCm38) |
R439G |
probably benign |
Het |
| Tcof1 |
T |
C |
18: 60,816,486 (GRCm38) |
K1155R |
unknown |
Het |
| Tmem184c |
T |
C |
8: 77,596,458 (GRCm38) |
I592V |
probably benign |
Het |
| Trav6-7-dv9 |
A |
G |
14: 53,710,212 (GRCm38) |
Y57C |
probably damaging |
Het |
| Trpc1 |
T |
A |
9: 95,743,250 (GRCm38) |
I108F |
probably damaging |
Het |
| Virma |
A |
T |
4: 11,546,007 (GRCm38) |
H1615L |
probably damaging |
Het |
| Vmn2r10 |
A |
T |
5: 109,002,538 (GRCm38) |
D213E |
probably damaging |
Het |
| Vps16 |
T |
C |
2: 130,440,485 (GRCm38) |
F413L |
probably benign |
Het |
| Vwa1 |
G |
A |
4: 155,772,879 (GRCm38) |
P154L |
probably damaging |
Het |
| Wasf1 |
T |
C |
10: 40,936,697 (GRCm38) |
I494T |
unknown |
Het |
| Wdr36 |
A |
G |
18: 32,852,647 (GRCm38) |
D539G |
possibly damaging |
Het |
| Zfp81 |
A |
T |
17: 33,335,437 (GRCm38) |
C134* |
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 |
|
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 |
|
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'- GCATTCTACAACAACTCACATTTGG -3'
(R):5'- TGCAGAACACCAGCATGCTG -3'
Sequencing Primer
(F):5'- CTACAACAACTCACATTTGGAGTTG -3'
(R):5'- CACCAGCATGCTGAATGTTATGG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation