Incidental Mutation 'R9401:Vmn2r116'
| ID |
711252 |
| 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 # |
R9401 (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 C
at 23401592 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 767
(S767P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128106
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164856]
|
| AlphaFold |
E9Q6I0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164856
AA Change: S767P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000128106
Gene: ENSMUSG00000090966
AA Change: S767P
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
A |
G |
8: 111,054,153 (GRCm38) |
D850G |
probably benign |
Het |
| Abcc9 |
T |
A |
6: 142,598,110 (GRCm38) |
T1480S |
possibly damaging |
Het |
| Adgrb3 |
C |
A |
1: 25,553,702 (GRCm38) |
V335F |
probably damaging |
Het |
| Agfg1 |
C |
A |
1: 82,882,237 (GRCm38) |
A275D |
probably benign |
Het |
| Alms1 |
T |
A |
6: 85,678,019 (GRCm38) |
C2713* |
probably null |
Het |
| Atp8a1 |
G |
A |
5: 67,749,149 (GRCm38) |
A474V |
|
Het |
| Baz1a |
C |
A |
12: 54,916,554 (GRCm38) |
S918I |
probably damaging |
Het |
| Bcl2l12 |
G |
T |
7: 44,994,250 (GRCm38) |
T120K |
possibly damaging |
Het |
| Bcl6 |
G |
T |
16: 23,972,357 (GRCm38) |
Q416K |
possibly damaging |
Het |
| Cdhr1 |
T |
A |
14: 37,098,098 (GRCm38) |
I16F |
probably benign |
Het |
| Celsr1 |
G |
T |
15: 86,033,085 (GRCm38) |
S229* |
probably null |
Het |
| Cilp |
T |
C |
9: 65,278,099 (GRCm38) |
V492A |
probably damaging |
Het |
| Crim1 |
CCGC |
CC |
17: 78,350,865 (GRCm38) |
|
probably null |
Het |
| Crppa |
T |
C |
12: 36,502,074 (GRCm38) |
V309A |
probably benign |
Het |
| Ctcfl |
T |
G |
2: 173,106,088 (GRCm38) |
T479P |
probably damaging |
Het |
| Dlx6 |
A |
C |
6: 6,863,581 (GRCm38) |
M68L |
probably benign |
Het |
| Dnah7a |
C |
A |
1: 53,528,867 (GRCm38) |
V1857F |
probably benign |
Het |
| Dpy19l4 |
A |
G |
4: 11,265,806 (GRCm38) |
V714A |
probably benign |
Het |
| Elovl7 |
T |
A |
13: 108,282,654 (GRCm38) |
N273K |
probably benign |
Het |
| Fbxo22 |
A |
G |
9: 55,223,344 (GRCm38) |
K299R |
probably benign |
Het |
| Fig4 |
A |
G |
10: 41,267,737 (GRCm38) |
V242A |
probably benign |
Het |
| Fmo9 |
A |
T |
1: 166,677,620 (GRCm38) |
M68K |
probably damaging |
Het |
| Fry |
T |
A |
5: 150,378,938 (GRCm38) |
Y537N |
probably damaging |
Het |
| Fryl |
C |
T |
5: 73,065,220 (GRCm38) |
W2006* |
probably null |
Het |
| Fzd8 |
T |
A |
18: 9,213,205 (GRCm38) |
C96S |
possibly damaging |
Het |
| Gm40460 |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 142,240,713 (GRCm38) |
|
probably benign |
Het |
| Gspt1 |
T |
C |
16: 11,232,671 (GRCm38) |
D272G |
possibly damaging |
Het |
| Gzmf |
A |
T |
14: 56,211,356 (GRCm38) |
M1K |
probably null |
Het |
| Hipk1 |
T |
C |
3: 103,777,979 (GRCm38) |
T107A |
probably benign |
Het |
| Hsd3b9 |
T |
G |
3: 98,456,503 (GRCm38) |
T9P |
probably damaging |
Het |
| Ighe |
C |
T |
12: 113,269,487 (GRCm38) |
C438Y |
|
Het |
| Igkv4-50 |
T |
A |
6: 69,700,983 (GRCm38) |
R46W |
|
Het |
| Igsf3 |
T |
A |
3: 101,425,759 (GRCm38) |
Y118N |
probably damaging |
Het |
| Itsn1 |
T |
A |
16: 91,815,520 (GRCm38) |
Y266N |
probably damaging |
Het |
| Jph3 |
A |
G |
8: 121,785,115 (GRCm38) |
E614G |
probably damaging |
Het |
| Klk1b8 |
T |
A |
7: 43,954,250 (GRCm38) |
D170E |
probably benign |
Het |
| Ly6e |
A |
T |
15: 74,958,304 (GRCm38) |
K36* |
probably null |
Het |
| Map3k6 |
C |
A |
4: 133,241,156 (GRCm38) |
A23E |
probably damaging |
Het |
| Med13l |
T |
A |
5: 118,745,024 (GRCm38) |
M1316K |
probably benign |
Het |
| Or5c1 |
T |
C |
2: 37,332,281 (GRCm38) |
V178A |
possibly damaging |
Het |
| Or6c76b |
A |
G |
10: 129,857,429 (GRCm38) |
R304G |
probably benign |
Het |
| Or8u3-ps |
A |
T |
2: 86,122,024 (GRCm38) |
I34F |
possibly damaging |
Het |
| Pih1d2 |
T |
A |
9: 50,618,605 (GRCm38) |
C45S |
probably damaging |
Het |
| Pik3r2 |
G |
A |
8: 70,771,093 (GRCm38) |
S318L |
possibly damaging |
Het |
| Pknox1 |
T |
C |
17: 31,583,778 (GRCm38) |
I9T |
probably benign |
Het |
| Pknox2 |
T |
C |
9: 36,923,745 (GRCm38) |
I143V |
probably damaging |
Het |
| Polr1d |
A |
G |
5: 147,078,678 (GRCm38) |
Y57C |
probably damaging |
Het |
| Pum3 |
A |
T |
19: 27,398,936 (GRCm38) |
D527E |
probably benign |
Het |
| Rars2 |
T |
A |
4: 34,654,819 (GRCm38) |
H374Q |
probably damaging |
Het |
| Rassf9 |
G |
A |
10: 102,512,508 (GRCm38) |
|
probably benign |
Het |
| Rbl1 |
T |
A |
2: 157,174,822 (GRCm38) |
H619L |
possibly damaging |
Het |
| Scamp4 |
T |
C |
10: 80,612,404 (GRCm38) |
V153A |
probably benign |
Het |
| Sec23b |
T |
G |
2: 144,578,366 (GRCm38) |
I450S |
probably benign |
Het |
| Slc35b2 |
A |
G |
17: 45,566,984 (GRCm38) |
I297V |
probably benign |
Het |
| Slc4a4 |
C |
T |
5: 89,179,666 (GRCm38) |
T654I |
probably damaging |
Het |
| Slc6a5 |
T |
A |
7: 49,951,437 (GRCm38) |
M662K |
probably damaging |
Het |
| Smarcad1 |
T |
C |
6: 65,094,337 (GRCm38) |
Y589H |
probably benign |
Het |
| Spata31d1e |
T |
C |
13: 59,742,198 (GRCm38) |
T603A |
probably benign |
Het |
| Stab1 |
A |
T |
14: 31,161,112 (GRCm38) |
F374I |
probably benign |
Het |
| Stat5a |
C |
T |
11: 100,865,428 (GRCm38) |
T158M |
possibly damaging |
Het |
| Trpc3 |
A |
T |
3: 36,621,354 (GRCm38) |
Y878* |
probably null |
Het |
| Ubr1 |
T |
A |
2: 120,935,284 (GRCm38) |
T491S |
probably benign |
Het |
| Uggt1 |
C |
T |
1: 36,216,131 (GRCm38) |
|
probably null |
Het |
| Ugt1a6a |
T |
A |
1: 88,139,160 (GRCm38) |
Y229* |
probably null |
Het |
| Vmn1r225 |
G |
A |
17: 20,502,649 (GRCm38) |
W117* |
probably null |
Het |
| Vmn1r225 |
A |
C |
17: 20,502,650 (GRCm38) |
K118Q |
probably damaging |
Het |
| Vmn1r43 |
G |
A |
6: 89,869,895 (GRCm38) |
T203M |
probably damaging |
Het |
| Wdr90 |
AGAC |
AGACGAC |
17: 25,845,776 (GRCm38) |
|
probably benign |
Het |
| Ythdf3 |
C |
T |
3: 16,204,495 (GRCm38) |
P280S |
probably damaging |
Het |
| Zbbx |
A |
G |
3: 75,112,083 (GRCm38) |
S107P |
probably benign |
Het |
| Zdhhc7 |
A |
T |
8: 120,086,686 (GRCm38) |
V128E |
probably benign |
Het |
| Zfp235 |
A |
G |
7: 24,142,126 (GRCm38) |
S657G |
probably damaging |
Het |
| Zfp442 |
T |
A |
2: 150,409,695 (GRCm38) |
I96F |
possibly damaging |
Het |
| Zfp84 |
G |
A |
7: 29,776,872 (GRCm38) |
E330K |
probably damaging |
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 |
|
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'- CAGGGGCAATTAACTACATCATTC -3'
(R):5'- GGGACAAAGATGCATCCCAG -3'
Sequencing Primer
(F):5'- CATCCAAGTTATTGTATGTGCAGTC -3'
(R):5'- GCATCCCAGCATCCCTG -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation