Incidental Mutation 'R8510:Vmn2r116'
| ID |
655830 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r116
|
| Ensembl Gene |
ENSMUSG00000090966 |
| Gene Name |
vomeronasal 2, receptor 116 |
| Synonyms |
V2Rp5, EG619697 |
| MMRRC Submission |
067845-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R8510 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
23384803-23401864 bp(+) (GRCm38) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 23385931 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 73
(K73*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128106
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164856]
|
| AlphaFold |
E9Q6I0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000164856
AA Change: K73*
|
| SMART Domains |
Protein: ENSMUSP00000128106
Gene: ENSMUSG00000090966
AA Change: K73*
| 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: 100.0%
- 10x: 99.9%
- 20x: 99.6%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf2 |
A |
T |
17: 42,719,540 (GRCm38) |
C9* |
probably null |
Het |
| Avil |
A |
G |
10: 127,009,781 (GRCm38) |
N331S |
probably benign |
Het |
| Casp1 |
G |
A |
9: 5,303,026 (GRCm38) |
R160H |
probably damaging |
Het |
| Celsr3 |
T |
C |
9: 108,838,120 (GRCm38) |
F2105L |
possibly damaging |
Het |
| Cenpf |
A |
T |
1: 189,650,706 (GRCm38) |
S2664T |
probably benign |
Het |
| Cfap221 |
T |
A |
1: 119,989,447 (GRCm38) |
K75* |
probably null |
Het |
| Cmtr2 |
T |
C |
8: 110,222,435 (GRCm38) |
V459A |
possibly damaging |
Het |
| Col5a3 |
A |
T |
9: 20,793,732 (GRCm38) |
D740E |
unknown |
Het |
| Crybg2 |
C |
A |
4: 134,073,359 (GRCm38) |
A301E |
probably benign |
Het |
| Cwf19l2 |
A |
G |
9: 3,454,732 (GRCm38) |
I682V |
possibly damaging |
Het |
| Dach1 |
T |
C |
14: 97,903,159 (GRCm38) |
D521G |
probably damaging |
Het |
| Dync1h1 |
T |
A |
12: 110,616,743 (GRCm38) |
Y425N |
possibly damaging |
Het |
| Emc3 |
G |
T |
6: 113,531,389 (GRCm38) |
H32N |
probably damaging |
Het |
| Exosc10 |
T |
C |
4: 148,564,189 (GRCm38) |
L304P |
probably damaging |
Het |
| Fam160b1 |
A |
T |
19: 57,382,320 (GRCm38) |
K557I |
probably benign |
Het |
| Fbxl12 |
C |
A |
9: 20,638,864 (GRCm38) |
R165L |
possibly damaging |
Het |
| Gldc |
T |
A |
19: 30,116,505 (GRCm38) |
Y704F |
probably damaging |
Het |
| Gm11077 |
A |
G |
6: 140,729,306 (GRCm38) |
N8S |
unknown |
Het |
| Gm4553 |
GCAGCCCCCACAGGAACTACAACCACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGA |
GCAGCCCCCACAGGA |
7: 142,165,288 (GRCm38) |
|
probably benign |
Het |
| Gm906 |
T |
C |
13: 50,250,192 (GRCm38) |
M25V |
probably benign |
Het |
| Gpam |
A |
G |
19: 55,080,382 (GRCm38) |
|
probably null |
Het |
| Gss |
G |
A |
2: 155,567,824 (GRCm38) |
Q300* |
probably null |
Het |
| Hydin |
T |
A |
8: 110,506,570 (GRCm38) |
L1767H |
probably damaging |
Het |
| Igf2r |
A |
G |
17: 12,704,313 (GRCm38) |
V1203A |
probably benign |
Het |
| Kcnf1 |
T |
A |
12: 17,175,938 (GRCm38) |
D94V |
probably damaging |
Het |
| Kif18a |
T |
A |
2: 109,296,764 (GRCm38) |
Y348N |
probably damaging |
Het |
| Klc4 |
G |
A |
17: 46,644,304 (GRCm38) |
A68V |
possibly damaging |
Het |
| Lhx4 |
G |
T |
1: 155,702,301 (GRCm38) |
T365K |
probably damaging |
Het |
| Mid1 |
A |
G |
X: 169,985,023 (GRCm38) |
E389G |
probably benign |
Het |
| Muc4 |
CAC |
CACTAC |
16: 32,754,076 (GRCm38) |
|
probably benign |
Het |
| Myo1e |
C |
T |
9: 70,335,265 (GRCm38) |
A354V |
probably damaging |
Het |
| Ncoa1 |
T |
C |
12: 4,259,303 (GRCm38) |
N1331S |
probably benign |
Het |
| Npas2 |
T |
C |
1: 39,287,472 (GRCm38) |
S13P |
probably damaging |
Het |
| Nps |
C |
T |
7: 135,272,350 (GRCm38) |
S83L |
probably damaging |
Het |
| Olfr218 |
T |
C |
1: 173,203,844 (GRCm38) |
S163P |
probably damaging |
Het |
| Olfr547 |
A |
G |
7: 102,534,963 (GRCm38) |
D72G |
probably damaging |
Het |
| Olfr670 |
G |
T |
7: 104,960,114 (GRCm38) |
S206* |
probably null |
Het |
| Olfr703 |
A |
G |
7: 106,844,923 (GRCm38) |
E104G |
probably benign |
Het |
| Olfr806 |
A |
G |
10: 129,738,185 (GRCm38) |
V244A |
probably benign |
Het |
| Pcdh12 |
T |
C |
18: 38,282,056 (GRCm38) |
D672G |
possibly damaging |
Het |
| Pcolce2 |
T |
C |
9: 95,681,647 (GRCm38) |
Y229H |
probably damaging |
Het |
| Pga5 |
C |
T |
19: 10,677,944 (GRCm38) |
V10M |
possibly damaging |
Het |
| Phyh |
A |
G |
2: 4,927,433 (GRCm38) |
D110G |
probably benign |
Het |
| Pias1 |
C |
T |
9: 62,923,637 (GRCm38) |
R163H |
probably damaging |
Het |
| Plat |
G |
T |
8: 22,772,232 (GRCm38) |
G91W |
probably damaging |
Het |
| Plscr4 |
C |
T |
9: 92,490,790 (GRCm38) |
R322* |
probably null |
Het |
| Pole |
T |
C |
5: 110,334,446 (GRCm38) |
Y2051H |
probably damaging |
Het |
| Rbbp8 |
A |
T |
18: 11,696,802 (GRCm38) |
K141* |
probably null |
Het |
| Rin2 |
T |
A |
2: 145,885,691 (GRCm38) |
V827E |
probably damaging |
Het |
| Spatc1 |
A |
G |
15: 76,292,312 (GRCm38) |
Y421C |
probably damaging |
Het |
| Strada |
T |
C |
11: 106,171,158 (GRCm38) |
Y152C |
probably damaging |
Het |
| Top1mt |
A |
G |
15: 75,669,302 (GRCm38) |
V212A |
probably benign |
Het |
| Ttc28 |
G |
A |
5: 111,233,341 (GRCm38) |
D1240N |
probably benign |
Het |
| Tubgcp6 |
C |
A |
15: 89,102,949 (GRCm38) |
G1274W |
possibly damaging |
Het |
| Unc79 |
T |
A |
12: 103,104,639 (GRCm38) |
I1231N |
probably damaging |
Het |
| Upp2 |
T |
C |
2: 58,780,106 (GRCm38) |
S275P |
probably damaging |
Het |
| Usp4 |
T |
A |
9: 108,388,382 (GRCm38) |
|
probably null |
Het |
| Usp47 |
A |
G |
7: 112,059,001 (GRCm38) |
T196A |
probably damaging |
Het |
| Wdr74 |
T |
A |
19: 8,737,910 (GRCm38) |
H144Q |
probably benign |
Het |
| Zan |
A |
T |
5: 137,388,938 (GRCm38) |
M4951K |
unknown |
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 |
|
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'- CAAGGTTTTATGAACTTCCAGCTTC -3'
(R):5'- CCAATTCATGTTTGTAAGGGCC -3'
Sequencing Primer
(F):5'- CTTTGTCATCTCAACCACATTACAC -3'
(R):5'- CATGTTTGTAAGGGCCAGTATAC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation