Incidental Mutation 'R6262:Vmn2r116'
| ID |
506786 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r116
|
| Ensembl Gene |
ENSMUSG00000090966 |
| Gene Name |
vomeronasal 2, receptor 116 |
| Synonyms |
V2Rp5, EG619697 |
| MMRRC Submission |
045016-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R6262 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
23384803-23401864 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 23387377 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 421
(K421R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128106
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164856]
|
| AlphaFold |
E9Q6I0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164856
AA Change: K421R
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000128106
Gene: ENSMUSG00000090966
AA Change: K421R
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
| Validation Efficiency |
97% (58/60) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
G |
A |
4: 53,092,917 (GRCm38) |
T289I |
probably benign |
Het |
| Abca2 |
T |
C |
2: 25,444,910 (GRCm38) |
Y1965H |
possibly damaging |
Het |
| Adam26a |
T |
C |
8: 43,569,088 (GRCm38) |
N455S |
possibly damaging |
Het |
| Art5 |
C |
T |
7: 102,098,131 (GRCm38) |
G147D |
probably benign |
Het |
| Atp5a1 |
G |
A |
18: 77,781,212 (GRCm38) |
V429M |
probably damaging |
Het |
| Calr4 |
A |
T |
4: 109,251,367 (GRCm38) |
N213I |
probably damaging |
Het |
| Cchcr1 |
T |
C |
17: 35,530,516 (GRCm38) |
S810P |
probably benign |
Het |
| Cdh4 |
A |
T |
2: 179,797,626 (GRCm38) |
R189W |
probably damaging |
Het |
| Cdk5rap1 |
T |
C |
2: 154,370,686 (GRCm38) |
D84G |
probably benign |
Het |
| Clasp2 |
T |
A |
9: 113,876,352 (GRCm38) |
|
probably null |
Het |
| Cntnap2 |
T |
A |
6: 45,060,112 (GRCm38) |
|
probably null |
Het |
| Cntnap4 |
T |
C |
8: 112,803,211 (GRCm38) |
Y684H |
probably damaging |
Het |
| Cyp2a4 |
T |
A |
7: 26,312,230 (GRCm38) |
V292E |
probably damaging |
Het |
| Dap |
A |
G |
15: 31,235,814 (GRCm38) |
T10A |
probably benign |
Het |
| Dnah11 |
G |
A |
12: 117,931,178 (GRCm38) |
R3645C |
probably damaging |
Het |
| Dnah9 |
A |
T |
11: 65,881,805 (GRCm38) |
|
probably null |
Het |
| Efr3a |
T |
C |
15: 65,857,474 (GRCm38) |
S675P |
possibly damaging |
Het |
| Gm11639 |
T |
A |
11: 104,893,753 (GRCm38) |
M2787K |
probably benign |
Het |
| Gria1 |
A |
G |
11: 57,242,854 (GRCm38) |
K451E |
probably damaging |
Het |
| Grin3b |
A |
T |
10: 79,974,369 (GRCm38) |
M570L |
probably benign |
Het |
| Hs2st1 |
A |
G |
3: 144,434,613 (GRCm38) |
F316L |
probably damaging |
Het |
| Hs6st3 |
A |
G |
14: 119,138,991 (GRCm38) |
T193A |
possibly damaging |
Het |
| Hspg2 |
A |
T |
4: 137,519,686 (GRCm38) |
D1108V |
probably damaging |
Het |
| Igf1r |
T |
A |
7: 68,003,972 (GRCm38) |
L86Q |
probably damaging |
Het |
| Inpp5j |
A |
G |
11: 3,502,615 (GRCm38) |
S212P |
probably benign |
Het |
| Junb |
A |
G |
8: 84,977,730 (GRCm38) |
S234P |
possibly damaging |
Het |
| Lhx3 |
GTGTTGT |
GTGT |
2: 26,202,423 (GRCm38) |
|
probably benign |
Het |
| Macf1 |
A |
G |
4: 123,473,190 (GRCm38) |
S1028P |
possibly damaging |
Het |
| Met |
C |
A |
6: 17,553,404 (GRCm38) |
A1063E |
probably benign |
Het |
| Mink1 |
T |
C |
11: 70,603,325 (GRCm38) |
|
probably null |
Het |
| Mtor |
A |
G |
4: 148,526,095 (GRCm38) |
E1621G |
possibly damaging |
Het |
| Mug2 |
T |
C |
6: 122,075,255 (GRCm38) |
Y991H |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,308,687 (GRCm38) |
D414G |
probably damaging |
Het |
| Nkx6-3 |
T |
C |
8: 23,153,847 (GRCm38) |
V88A |
probably benign |
Het |
| Nr3c2 |
A |
G |
8: 76,908,633 (GRCm38) |
Q121R |
possibly damaging |
Het |
| Nup155 |
T |
C |
15: 8,156,741 (GRCm38) |
V1329A |
probably benign |
Het |
| Olfr1161 |
T |
C |
2: 88,025,394 (GRCm38) |
V224A |
probably benign |
Het |
| Olfr716 |
T |
C |
7: 107,147,711 (GRCm38) |
Y132H |
probably damaging |
Het |
| Pcdhb17 |
T |
A |
18: 37,486,698 (GRCm38) |
F514I |
probably damaging |
Het |
| Pfkl |
A |
G |
10: 77,988,673 (GRCm38) |
|
probably null |
Het |
| Prl8a1 |
A |
T |
13: 27,574,143 (GRCm38) |
H194Q |
possibly damaging |
Het |
| Sh3tc1 |
C |
G |
5: 35,699,773 (GRCm38) |
E1241Q |
probably damaging |
Het |
| Slc6a6 |
A |
T |
6: 91,755,032 (GRCm38) |
H614L |
possibly damaging |
Het |
| Sort1 |
A |
G |
3: 108,310,211 (GRCm38) |
Y143C |
probably damaging |
Het |
| Stat4 |
T |
A |
1: 52,102,201 (GRCm38) |
W569R |
probably null |
Het |
| Taco1 |
A |
T |
11: 106,071,867 (GRCm38) |
K127* |
probably null |
Het |
| Tas2r110 |
T |
C |
6: 132,868,675 (GRCm38) |
I223T |
probably damaging |
Het |
| Tex21 |
A |
G |
12: 76,212,532 (GRCm38) |
I329T |
probably damaging |
Het |
| Tmprss11b |
T |
C |
5: 86,662,260 (GRCm38) |
H287R |
probably benign |
Het |
| Trim30a |
A |
G |
7: 104,411,534 (GRCm38) |
L345P |
probably benign |
Het |
| Vmn1r62 |
G |
A |
7: 5,675,557 (GRCm38) |
C79Y |
probably damaging |
Het |
| Vwde |
C |
T |
6: 13,205,021 (GRCm38) |
S287N |
probably damaging |
Het |
| Xrcc4 |
A |
T |
13: 89,778,787 (GRCm38) |
M300K |
probably benign |
Het |
| Zan |
A |
T |
5: 137,429,485 (GRCm38) |
|
probably null |
Het |
| Zbtb7c |
A |
G |
18: 76,137,342 (GRCm38) |
D167G |
probably benign |
Het |
| Zfc3h1 |
A |
G |
10: 115,413,976 (GRCm38) |
Y1165C |
probably damaging |
Het |
| Zfp326 |
T |
A |
5: 105,888,487 (GRCm38) |
L88Q |
probably damaging |
Het |
| Zfp667 |
A |
G |
7: 6,304,974 (GRCm38) |
T214A |
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 |
|
R5837:Vmn2r116
|
UTSW |
17 |
23,387,080 (GRCm38) |
missense |
probably damaging |
1.00 |
|
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'- ACTTTAACTGCGAGGTCTCAGC -3'
(R):5'- CAGATTATGCCTTATAGTCTGTTCC -3'
Sequencing Primer
(F):5'- GGTCTCAGCCTCTAAATGTAAGAC -3'
(R):5'- ATGCCTTATAGTCTGTTCCCTTAAC -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation