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: 0.062)
|
| Stock # |
R1396 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
23384803-23401864 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 23386141 bp (GRCm38)
|
| 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 |
|---|
| 4921530L21Rik |
A |
G |
14: 95,882,551 (GRCm38) |
N248S |
probably benign |
Het |
| 4930486L24Rik |
G |
A |
13: 60,853,243 (GRCm38) |
P160S |
probably benign |
Het |
| Adamts12 |
G |
T |
15: 11,311,472 (GRCm38) |
D1272Y |
probably benign |
Het |
| Akr1c20 |
A |
T |
13: 4,507,727 (GRCm38) |
V267D |
probably damaging |
Het |
| C1s1 |
A |
G |
6: 124,531,051 (GRCm38) |
S660P |
probably damaging |
Het |
| Ccdc40 |
A |
G |
11: 119,231,803 (GRCm38) |
T144A |
possibly damaging |
Het |
| Cdk20 |
T |
C |
13: 64,437,403 (GRCm38) |
I167T |
probably damaging |
Het |
| Chd6 |
A |
G |
2: 160,983,103 (GRCm38) |
L1212S |
probably damaging |
Het |
| Clock |
G |
C |
5: 76,266,802 (GRCm38) |
D15E |
probably benign |
Het |
| Clstn2 |
A |
G |
9: 97,461,393 (GRCm38) |
V667A |
probably benign |
Het |
| Cr2 |
A |
T |
1: 195,169,253 (GRCm38) |
|
probably null |
Het |
| Cyp2e1 |
A |
G |
7: 140,773,079 (GRCm38) |
D343G |
probably damaging |
Het |
| Dync1h1 |
G |
A |
12: 110,636,509 (GRCm38) |
E2195K |
probably benign |
Het |
| Etf1 |
G |
A |
18: 34,908,167 (GRCm38) |
T298I |
possibly damaging |
Het |
| Gm5431 |
T |
C |
11: 48,895,434 (GRCm38) |
|
probably benign |
Het |
| Gss |
G |
A |
2: 155,567,721 (GRCm38) |
T265I |
probably damaging |
Het |
| Heatr1 |
C |
T |
13: 12,406,046 (GRCm38) |
S406L |
possibly damaging |
Het |
| Hgsnat |
C |
A |
8: 25,957,335 (GRCm38) |
M310I |
possibly damaging |
Het |
| Inpp5b |
G |
A |
4: 124,789,080 (GRCm38) |
R598H |
probably damaging |
Het |
| Ints2 |
G |
T |
11: 86,249,248 (GRCm38) |
Q253K |
probably damaging |
Het |
| Kng1 |
A |
G |
16: 23,078,980 (GRCm38) |
M377V |
probably benign |
Het |
| Krt72 |
C |
T |
15: 101,786,005 (GRCm38) |
|
probably null |
Het |
| Lemd2 |
G |
C |
17: 27,190,732 (GRCm38) |
R482G |
probably damaging |
Het |
| Lrpprc |
C |
T |
17: 84,726,303 (GRCm38) |
D1049N |
possibly damaging |
Het |
| Lrrc49 |
A |
T |
9: 60,680,527 (GRCm38) |
H117Q |
probably damaging |
Het |
| Mcm6 |
A |
T |
1: 128,351,476 (GRCm38) |
F191Y |
probably damaging |
Het |
| Mecom |
T |
C |
3: 29,979,800 (GRCm38) |
T252A |
possibly damaging |
Het |
| Mgat4e |
T |
C |
1: 134,541,533 (GRCm38) |
T258A |
probably benign |
Het |
| Mpeg1 |
A |
G |
19: 12,462,804 (GRCm38) |
N542S |
probably damaging |
Het |
| Nln |
C |
T |
13: 104,061,753 (GRCm38) |
V184I |
probably benign |
Het |
| Nova1 |
A |
C |
12: 46,816,893 (GRCm38) |
F91L |
unknown |
Het |
| Polk |
T |
C |
13: 96,484,208 (GRCm38) |
I516V |
probably benign |
Het |
| Ppig |
C |
T |
2: 69,749,018 (GRCm38) |
P357S |
unknown |
Het |
| Ptpro |
T |
A |
6: 137,443,594 (GRCm38) |
V1007D |
probably damaging |
Het |
| Rasal2 |
A |
T |
1: 157,164,666 (GRCm38) |
H552Q |
probably damaging |
Het |
| Rnf41 |
G |
A |
10: 128,435,571 (GRCm38) |
E117K |
probably benign |
Het |
| Sbk3 |
A |
G |
7: 4,967,453 (GRCm38) |
Y306H |
possibly damaging |
Het |
| Senp1 |
A |
G |
15: 98,076,554 (GRCm38) |
S126P |
probably benign |
Het |
| Sfr1 |
A |
G |
19: 47,733,690 (GRCm38) |
K182E |
probably benign |
Het |
| Slc25a4 |
C |
A |
8: 46,209,288 (GRCm38) |
R111L |
probably damaging |
Het |
| Slc9c1 |
A |
T |
16: 45,573,347 (GRCm38) |
Y551F |
probably benign |
Het |
| Stard4 |
A |
T |
18: 33,206,210 (GRCm38) |
N80K |
probably damaging |
Het |
| Tbk1 |
G |
A |
10: 121,571,916 (GRCm38) |
T104M |
probably damaging |
Het |
| Tedc2 |
C |
A |
17: 24,216,318 (GRCm38) |
E366* |
probably null |
Het |
| Tedc2 |
T |
A |
17: 24,216,317 (GRCm38) |
E366V |
probably damaging |
Het |
| Tmem102 |
A |
T |
11: 69,804,370 (GRCm38) |
W259R |
probably damaging |
Het |
| Tnk1 |
A |
T |
11: 69,853,136 (GRCm38) |
C466S |
probably benign |
Het |
| Tspoap1 |
A |
C |
11: 87,766,120 (GRCm38) |
Q307P |
probably damaging |
Het |
| Ugt2b35 |
A |
G |
5: 87,011,530 (GRCm38) |
N528D |
possibly damaging |
Het |
| Usp6nl |
A |
G |
2: 6,426,998 (GRCm38) |
|
probably null |
Het |
| Vmn1r203 |
C |
T |
13: 22,524,508 (GRCm38) |
T153M |
probably benign |
Het |
| Vmn1r89 |
T |
A |
7: 13,220,011 (GRCm38) |
S157T |
probably damaging |
Het |
| Vmn2r103 |
A |
T |
17: 19,792,968 (GRCm38) |
Y117F |
probably benign |
Het |
| Vmn2r62 |
A |
T |
7: 42,764,837 (GRCm38) |
D727E |
probably damaging |
Het |
| Vps13c |
A |
G |
9: 67,955,022 (GRCm38) |
I2974V |
probably benign |
Het |
| Wrn |
C |
T |
8: 33,268,819 (GRCm38) |
G769D |
probably damaging |
Het |
| Zhx3 |
T |
A |
2: 160,781,020 (GRCm38) |
H409L |
possibly 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 |
|
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 |
|
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'- TCAACAGGAACCCTGATCTTTTGCC -3'
(R):5'- TGTCTGAGATGACCAACCCTACCC -3'
Sequencing Primer
(F):5'- GGAACCCTGATCTTTTGCCAAATATG -3'
(R):5'- catacacacacacacacacac -3'
|
| Posted On |
2014-03-17 |
Incidental Mutation