Incidental Mutation 'R1396:Vmn2r116'
| ID |
162679 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r116
|
| Ensembl Gene |
ENSMUSG00000090966 |
| Gene Name |
vomeronasal 2, receptor 116 |
| Synonyms |
V2Rp5, EG619697 |
| MMRRC Submission |
039458-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R1396 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
23603777-23620838 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 23605115 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 143
(M143L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128106
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164856]
|
| AlphaFold |
E9Q6I0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164856
AA Change: M143L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000128106
Gene: ENSMUSG00000090966
AA Change: M143L
| 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: 98.9%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.4%
|
| 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 |
|---|
| 4930486L24Rik |
G |
A |
13: 61,001,057 (GRCm39) |
P160S |
probably benign |
Het |
| Adamts12 |
G |
T |
15: 11,311,558 (GRCm39) |
D1272Y |
probably benign |
Het |
| Akr1c20 |
A |
T |
13: 4,557,726 (GRCm39) |
V267D |
probably damaging |
Het |
| C1s1 |
A |
G |
6: 124,508,010 (GRCm39) |
S660P |
probably damaging |
Het |
| Ccdc202 |
A |
G |
14: 96,119,987 (GRCm39) |
N248S |
probably benign |
Het |
| Ccdc40 |
A |
G |
11: 119,122,629 (GRCm39) |
T144A |
possibly damaging |
Het |
| Cdk20 |
T |
C |
13: 64,585,217 (GRCm39) |
I167T |
probably damaging |
Het |
| Chd6 |
A |
G |
2: 160,825,023 (GRCm39) |
L1212S |
probably damaging |
Het |
| Clock |
G |
C |
5: 76,414,649 (GRCm39) |
D15E |
probably benign |
Het |
| Clstn2 |
A |
G |
9: 97,343,446 (GRCm39) |
V667A |
probably benign |
Het |
| Cr2 |
A |
T |
1: 194,851,561 (GRCm39) |
|
probably null |
Het |
| Cyp2e1 |
A |
G |
7: 140,352,992 (GRCm39) |
D343G |
probably damaging |
Het |
| Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
| Etf1 |
G |
A |
18: 35,041,220 (GRCm39) |
T298I |
possibly damaging |
Het |
| Gm5431 |
T |
C |
11: 48,786,261 (GRCm39) |
|
probably benign |
Het |
| Gss |
G |
A |
2: 155,409,641 (GRCm39) |
T265I |
probably damaging |
Het |
| Heatr1 |
C |
T |
13: 12,420,927 (GRCm39) |
S406L |
possibly damaging |
Het |
| Hgsnat |
C |
A |
8: 26,447,363 (GRCm39) |
M310I |
possibly damaging |
Het |
| Inpp5b |
G |
A |
4: 124,682,873 (GRCm39) |
R598H |
probably damaging |
Het |
| Ints2 |
G |
T |
11: 86,140,074 (GRCm39) |
Q253K |
probably damaging |
Het |
| Kng1 |
A |
G |
16: 22,897,730 (GRCm39) |
M377V |
probably benign |
Het |
| Krt72 |
C |
T |
15: 101,694,440 (GRCm39) |
|
probably null |
Het |
| Lemd2 |
G |
C |
17: 27,409,706 (GRCm39) |
R482G |
probably damaging |
Het |
| Lrpprc |
C |
T |
17: 85,033,731 (GRCm39) |
D1049N |
possibly damaging |
Het |
| Lrrc49 |
A |
T |
9: 60,587,810 (GRCm39) |
H117Q |
probably damaging |
Het |
| Mcm6 |
A |
T |
1: 128,279,213 (GRCm39) |
F191Y |
probably damaging |
Het |
| Mecom |
T |
C |
3: 30,033,949 (GRCm39) |
T252A |
possibly damaging |
Het |
| Mgat4e |
T |
C |
1: 134,469,271 (GRCm39) |
T258A |
probably benign |
Het |
| Mpeg1 |
A |
G |
19: 12,440,168 (GRCm39) |
N542S |
probably damaging |
Het |
| Nln |
C |
T |
13: 104,198,261 (GRCm39) |
V184I |
probably benign |
Het |
| Nova1 |
A |
C |
12: 46,863,676 (GRCm39) |
F91L |
unknown |
Het |
| Polk |
T |
C |
13: 96,620,716 (GRCm39) |
I516V |
probably benign |
Het |
| Ppig |
C |
T |
2: 69,579,362 (GRCm39) |
P357S |
unknown |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Rasal2 |
A |
T |
1: 156,992,236 (GRCm39) |
H552Q |
probably damaging |
Het |
| Rnf41 |
G |
A |
10: 128,271,440 (GRCm39) |
E117K |
probably benign |
Het |
| Sbk3 |
A |
G |
7: 4,970,452 (GRCm39) |
Y306H |
possibly damaging |
Het |
| Senp1 |
A |
G |
15: 97,974,435 (GRCm39) |
S126P |
probably benign |
Het |
| Sfr1 |
A |
G |
19: 47,722,129 (GRCm39) |
K182E |
probably benign |
Het |
| Slc25a4 |
C |
A |
8: 46,662,325 (GRCm39) |
R111L |
probably damaging |
Het |
| Slc9c1 |
A |
T |
16: 45,393,710 (GRCm39) |
Y551F |
probably benign |
Het |
| Stard4 |
A |
T |
18: 33,339,263 (GRCm39) |
N80K |
probably damaging |
Het |
| Tbk1 |
G |
A |
10: 121,407,821 (GRCm39) |
T104M |
probably damaging |
Het |
| Tedc2 |
C |
A |
17: 24,435,292 (GRCm39) |
E366* |
probably null |
Het |
| Tedc2 |
T |
A |
17: 24,435,291 (GRCm39) |
E366V |
probably damaging |
Het |
| Tmem102 |
A |
T |
11: 69,695,196 (GRCm39) |
W259R |
probably damaging |
Het |
| Tnk1 |
A |
T |
11: 69,743,962 (GRCm39) |
C466S |
probably benign |
Het |
| Tspoap1 |
A |
C |
11: 87,656,946 (GRCm39) |
Q307P |
probably damaging |
Het |
| Ugt2b35 |
A |
G |
5: 87,159,389 (GRCm39) |
N528D |
possibly damaging |
Het |
| Usp6nl |
A |
G |
2: 6,431,809 (GRCm39) |
|
probably null |
Het |
| Vmn1r203 |
C |
T |
13: 22,708,678 (GRCm39) |
T153M |
probably benign |
Het |
| Vmn1r89 |
T |
A |
7: 12,953,938 (GRCm39) |
S157T |
probably damaging |
Het |
| Vmn2r103 |
A |
T |
17: 20,013,230 (GRCm39) |
Y117F |
probably benign |
Het |
| Vmn2r62 |
A |
T |
7: 42,414,261 (GRCm39) |
D727E |
probably damaging |
Het |
| Vps13c |
A |
G |
9: 67,862,304 (GRCm39) |
I2974V |
probably benign |
Het |
| Wrn |
C |
T |
8: 33,758,847 (GRCm39) |
G769D |
probably damaging |
Het |
| Zhx3 |
T |
A |
2: 160,622,940 (GRCm39) |
H409L |
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 |
|
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 |
|
R8977:Vmn2r116
|
UTSW |
17 |
23,605,916 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
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'- TCAACAGGAACCCTGATCTTTTGCC -3'
(R):5'- TGTCTGAGATGACCAACCCTACCC -3'
Sequencing Primer
(F):5'- GGAACCCTGATCTTTTGCCAAATATG -3'
(R):5'- catacacacacacacacacac -3'
|
| Posted On |
2014-03-17 |
Incidental Mutation