Incidental Mutation 'R5837:Vmn2r116'
| ID |
449678 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r116
|
| Ensembl Gene |
ENSMUSG00000090966 |
| Gene Name |
vomeronasal 2, receptor 116 |
| Synonyms |
V2Rp5, EG619697 |
| MMRRC Submission |
044057-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R5837 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
23384803-23401864 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 23387080 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 322
(F322S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128106
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164856]
|
| AlphaFold |
E9Q6I0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164856
AA Change: F322S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128106
Gene: ENSMUSG00000090966
AA Change: F322S
| 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 |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.6%
|
| Validation Efficiency |
99% (72/73) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca2 |
G |
A |
2: 25,433,359 (GRCm38) |
R113Q |
probably benign |
Het |
| Ank1 |
A |
G |
8: 23,104,790 (GRCm38) |
N605D |
probably damaging |
Het |
| Apob |
A |
G |
12: 8,003,277 (GRCm38) |
M1240V |
probably benign |
Het |
| Atf1 |
T |
A |
15: 100,254,384 (GRCm38) |
I86N |
probably damaging |
Het |
| Best1 |
T |
A |
19: 9,989,119 (GRCm38) |
|
probably null |
Het |
| Bet1l |
C |
A |
7: 140,854,781 (GRCm38) |
R51L |
probably benign |
Het |
| Bpifa5 |
A |
G |
2: 154,163,678 (GRCm38) |
Y60C |
probably damaging |
Het |
| Ccdc141 |
G |
T |
2: 77,108,437 (GRCm38) |
Q275K |
possibly damaging |
Het |
| Cep295 |
T |
A |
9: 15,346,984 (GRCm38) |
H241L |
probably damaging |
Het |
| Commd7 |
A |
G |
2: 153,629,224 (GRCm38) |
V36A |
possibly damaging |
Het |
| Cyld |
G |
A |
8: 88,741,404 (GRCm38) |
S555N |
probably damaging |
Het |
| Cyp2j13 |
A |
T |
4: 96,071,682 (GRCm38) |
I79N |
probably damaging |
Het |
| Dact2 |
A |
G |
17: 14,196,253 (GRCm38) |
S562P |
probably damaging |
Het |
| Dnajc13 |
T |
A |
9: 104,176,666 (GRCm38) |
I1664F |
possibly damaging |
Het |
| Ehmt1 |
A |
G |
2: 24,863,914 (GRCm38) |
V277A |
probably damaging |
Het |
| Fbn1 |
A |
T |
2: 125,379,134 (GRCm38) |
|
probably null |
Het |
| Galnt6 |
G |
A |
15: 100,694,646 (GRCm38) |
T560M |
possibly damaging |
Het |
| Glra1 |
G |
T |
11: 55,536,507 (GRCm38) |
|
probably null |
Het |
| Gm10762 |
C |
T |
2: 128,967,157 (GRCm38) |
|
probably benign |
Het |
| Greb1 |
C |
T |
12: 16,688,585 (GRCm38) |
R1459H |
probably damaging |
Het |
| Ift140 |
A |
G |
17: 25,089,540 (GRCm38) |
K1048E |
probably damaging |
Het |
| Ilk |
T |
C |
7: 105,741,171 (GRCm38) |
|
probably null |
Het |
| Lgi4 |
C |
T |
7: 31,070,783 (GRCm38) |
|
probably benign |
Het |
| Loxhd1 |
A |
G |
18: 77,286,409 (GRCm38) |
T59A |
possibly damaging |
Het |
| Lzic |
G |
T |
4: 149,486,000 (GRCm38) |
|
probably null |
Het |
| Mef2d |
A |
G |
3: 88,161,781 (GRCm38) |
T286A |
probably benign |
Het |
| Mycbp2 |
C |
A |
14: 103,124,403 (GRCm38) |
C4447F |
probably damaging |
Het |
| Ncoa2 |
A |
G |
1: 13,224,706 (GRCm38) |
|
probably benign |
Het |
| Nolc1 |
T |
C |
19: 46,083,183 (GRCm38) |
|
probably benign |
Het |
| Npl |
T |
C |
1: 153,503,525 (GRCm38) |
T271A |
probably benign |
Het |
| Nudt1 |
A |
G |
5: 140,334,540 (GRCm38) |
R25G |
probably damaging |
Het |
| Nudt19 |
T |
C |
7: 35,551,636 (GRCm38) |
E226G |
possibly damaging |
Het |
| Oc90 |
T |
C |
15: 65,876,446 (GRCm38) |
D405G |
probably benign |
Het |
| Or10q1b |
T |
A |
19: 13,704,960 (GRCm38) |
C44* |
probably null |
Het |
| Or1e1c |
A |
G |
11: 73,375,648 (GRCm38) |
M300V |
probably benign |
Het |
| Or5as1 |
A |
T |
2: 87,150,355 (GRCm38) |
F102Y |
probably benign |
Het |
| Or9k2b |
A |
T |
10: 130,180,397 (GRCm38) |
L161H |
probably damaging |
Het |
| Pcdhb1 |
T |
C |
18: 37,265,827 (GRCm38) |
I277T |
possibly damaging |
Het |
| Pcdhb9 |
C |
A |
18: 37,402,798 (GRCm38) |
A615E |
probably damaging |
Het |
| Phrf1 |
C |
G |
7: 141,260,061 (GRCm38) |
D1056E |
probably benign |
Het |
| Phyhip |
C |
A |
14: 70,467,010 (GRCm38) |
A223E |
probably damaging |
Het |
| Polr2h |
T |
A |
16: 20,717,932 (GRCm38) |
I4N |
probably damaging |
Het |
| Ppp1r12c |
C |
A |
7: 4,497,404 (GRCm38) |
|
probably benign |
Het |
| Pramel11 |
A |
G |
4: 143,896,920 (GRCm38) |
V228A |
probably benign |
Het |
| Psg17 |
T |
A |
7: 18,820,215 (GRCm38) |
T37S |
possibly damaging |
Het |
| Ptprz1 |
T |
C |
6: 23,001,418 (GRCm38) |
V1169A |
probably benign |
Het |
| Rabgap1l |
T |
C |
1: 160,307,222 (GRCm38) |
|
probably benign |
Het |
| Rapgef3 |
C |
T |
15: 97,757,342 (GRCm38) |
|
probably benign |
Het |
| Rbp3 |
C |
A |
14: 33,954,273 (GRCm38) |
H59Q |
probably benign |
Het |
| Robo3 |
T |
A |
9: 37,429,816 (GRCm38) |
|
probably null |
Het |
| Slco4c1 |
C |
T |
1: 96,818,982 (GRCm38) |
E712K |
probably benign |
Het |
| Ssh3 |
T |
C |
19: 4,266,400 (GRCm38) |
T168A |
probably benign |
Het |
| Stoml2 |
G |
T |
4: 43,028,989 (GRCm38) |
N248K |
probably damaging |
Het |
| Tmigd1 |
A |
G |
11: 76,916,085 (GRCm38) |
|
probably benign |
Het |
| Tnc |
T |
A |
4: 64,013,214 (GRCm38) |
D753V |
probably damaging |
Het |
| Tnik |
A |
T |
3: 28,668,053 (GRCm38) |
|
probably benign |
Het |
| Treml1 |
A |
G |
17: 48,360,152 (GRCm38) |
S22G |
possibly damaging |
Het |
| Trmt2a |
C |
T |
16: 18,249,462 (GRCm38) |
|
probably benign |
Het |
| Ttn |
T |
C |
2: 76,717,374 (GRCm38) |
T32151A |
probably damaging |
Het |
| Utp25 |
A |
T |
1: 193,118,393 (GRCm38) |
F373Y |
probably damaging |
Het |
| Vmn1r67 |
T |
C |
7: 10,447,022 (GRCm38) |
I10T |
probably benign |
Het |
| Wdr19 |
A |
G |
5: 65,202,957 (GRCm38) |
D35G |
probably benign |
Het |
| Zfp365 |
A |
T |
10: 67,889,040 (GRCm38) |
H339Q |
probably damaging |
Het |
| Zfp677 |
A |
T |
17: 21,397,386 (GRCm38) |
H235L |
probably damaging |
Het |
| Zpbp2 |
G |
A |
11: 98,551,271 (GRCm38) |
|
probably benign |
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 |
|
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'- TCAAGAGCTGAAGTGTATTACAACC -3'
(R):5'- GGCCATGTCAAAAGTATGTACC -3'
Sequencing Primer
(F):5'- GAGCTGAAGTGTATTACAACCAAATC -3'
(R):5'- TGTACCATTAACCATTTCAATGAGTG -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation