Incidental Mutation 'R5810:Vmn2r2'
ID |
447451 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r2
|
Ensembl Gene |
ENSMUSG00000043897 |
Gene Name |
vomeronasal 2, receptor 2 |
Synonyms |
|
MMRRC Submission |
043395-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.108)
|
Stock # |
R5810 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
64022699-64049349 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 64024815 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 589
(C589S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135110
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077958]
[ENSMUST00000177151]
|
AlphaFold |
L7N2E9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000077958
AA Change: C505S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000077109 Gene: ENSMUSG00000043897 AA Change: C505S
Domain | Start | End | E-Value | Type |
Pfam:ANF_receptor
|
1 |
416 |
4.5e-80 |
PFAM |
Pfam:NCD3G
|
458 |
511 |
8.3e-18 |
PFAM |
Pfam:7tm_3
|
542 |
779 |
1.3e-75 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000177151
AA Change: C589S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000135110 Gene: ENSMUSG00000043897 AA Change: C589S
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
Pfam:ANF_receptor
|
83 |
500 |
1.6e-84 |
PFAM |
Pfam:NCD3G
|
542 |
595 |
2.6e-17 |
PFAM |
Pfam:7tm_3
|
628 |
862 |
1.9e-47 |
PFAM |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 96.0%
|
Validation Efficiency |
100% (66/66) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca1 |
A |
G |
4: 53,079,631 (GRCm39) |
F866L |
probably benign |
Het |
Abca16 |
T |
A |
7: 120,035,155 (GRCm39) |
C314S |
probably damaging |
Het |
Actl11 |
C |
T |
9: 107,806,420 (GRCm39) |
P248S |
probably benign |
Het |
Actr3 |
A |
G |
1: 125,344,116 (GRCm39) |
|
probably benign |
Het |
Baz1a |
G |
A |
12: 54,974,500 (GRCm39) |
|
probably benign |
Het |
Birc6 |
A |
C |
17: 74,977,369 (GRCm39) |
N4388T |
probably damaging |
Het |
Bpifa5 |
G |
A |
2: 154,005,638 (GRCm39) |
|
probably null |
Het |
Car13 |
A |
C |
3: 14,706,828 (GRCm39) |
|
probably null |
Het |
Ceacam18 |
A |
T |
7: 43,286,382 (GRCm39) |
H85L |
probably benign |
Het |
Cnnm3 |
A |
G |
1: 36,564,280 (GRCm39) |
E704G |
probably benign |
Het |
Cyp4f14 |
T |
A |
17: 33,125,072 (GRCm39) |
I450F |
possibly damaging |
Het |
Ddhd1 |
G |
T |
14: 45,840,164 (GRCm39) |
T710N |
probably damaging |
Het |
Ddx60 |
C |
T |
8: 62,465,422 (GRCm39) |
Q1360* |
probably null |
Het |
Dlg5 |
A |
G |
14: 24,196,322 (GRCm39) |
V1625A |
probably damaging |
Het |
Dst |
G |
A |
1: 34,222,121 (GRCm39) |
|
probably benign |
Het |
Dyrk2 |
G |
T |
10: 118,696,245 (GRCm39) |
H338N |
probably benign |
Het |
Epb41l1 |
A |
T |
2: 156,341,575 (GRCm39) |
I187F |
probably damaging |
Het |
Esd |
A |
G |
14: 74,983,051 (GRCm39) |
D221G |
probably damaging |
Het |
Fam53b |
T |
A |
7: 132,361,893 (GRCm39) |
N45I |
probably damaging |
Het |
Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
Fryl |
A |
T |
5: 73,248,098 (GRCm39) |
D1006E |
probably benign |
Het |
Gli3 |
T |
C |
13: 15,818,894 (GRCm39) |
V232A |
probably damaging |
Het |
Gm28308 |
C |
A |
6: 52,190,196 (GRCm39) |
|
probably benign |
Het |
Gpatch1 |
G |
A |
7: 34,994,796 (GRCm39) |
A490V |
probably benign |
Het |
Hoxa7 |
T |
C |
6: 52,193,004 (GRCm39) |
D128G |
probably benign |
Het |
Igdcc4 |
A |
G |
9: 65,035,977 (GRCm39) |
T751A |
probably damaging |
Het |
Igsf10 |
G |
A |
3: 59,226,492 (GRCm39) |
L2394F |
probably damaging |
Het |
Il15ra |
A |
G |
2: 11,738,063 (GRCm39) |
|
probably null |
Het |
Il17re |
C |
T |
6: 113,446,557 (GRCm39) |
A436V |
probably damaging |
Het |
Krtap19-2 |
T |
C |
16: 88,671,124 (GRCm39) |
|
probably benign |
Het |
Larp7-ps |
A |
T |
4: 92,079,820 (GRCm39) |
|
probably null |
Het |
Lgals12 |
T |
C |
19: 7,584,085 (GRCm39) |
D4G |
probably benign |
Het |
Liph |
A |
T |
16: 21,786,860 (GRCm39) |
L252Q |
probably damaging |
Het |
Mtg1 |
T |
A |
7: 139,725,898 (GRCm39) |
|
probably null |
Het |
Myo18b |
A |
G |
5: 112,982,316 (GRCm39) |
L1139P |
probably damaging |
Het |
Ninl |
T |
C |
2: 150,792,088 (GRCm39) |
R812G |
probably benign |
Het |
Npm3 |
A |
G |
19: 45,736,644 (GRCm39) |
I165T |
possibly damaging |
Het |
Or1e22 |
G |
T |
11: 73,376,921 (GRCm39) |
S243* |
probably null |
Het |
Osbpl9 |
A |
G |
4: 108,943,571 (GRCm39) |
V231A |
probably benign |
Het |
Pgam2 |
T |
C |
11: 5,753,417 (GRCm39) |
H91R |
possibly damaging |
Het |
Pkhd1 |
A |
G |
1: 20,270,897 (GRCm39) |
W3219R |
probably benign |
Het |
Procr |
A |
G |
2: 155,593,327 (GRCm39) |
K4E |
possibly damaging |
Het |
Slc22a16 |
C |
T |
10: 40,471,314 (GRCm39) |
T495I |
possibly damaging |
Het |
Slc22a6 |
A |
G |
19: 8,601,222 (GRCm39) |
K425E |
probably damaging |
Het |
Slco6c1 |
A |
T |
1: 97,003,598 (GRCm39) |
C500S |
probably damaging |
Het |
Snrpd2 |
G |
T |
7: 18,886,447 (GRCm39) |
V77F |
probably benign |
Het |
Sp100 |
G |
A |
1: 85,593,006 (GRCm39) |
G145D |
probably benign |
Het |
Spg7 |
G |
A |
8: 123,821,308 (GRCm39) |
E678K |
possibly damaging |
Het |
Ssh1 |
T |
C |
5: 114,084,627 (GRCm39) |
K538E |
probably benign |
Het |
Sspo |
C |
T |
6: 48,460,832 (GRCm39) |
R3356W |
probably benign |
Het |
Stx1a |
G |
T |
5: 135,077,932 (GRCm39) |
V255F |
probably damaging |
Het |
Tbc1d13 |
C |
A |
2: 30,032,380 (GRCm39) |
Q164K |
probably benign |
Het |
Tfpi |
AATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGA |
AATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGA |
2: 84,264,768 (GRCm39) |
|
probably benign |
Het |
Tpm2 |
T |
C |
4: 43,518,968 (GRCm39) |
|
probably benign |
Het |
Triobp |
T |
C |
15: 78,852,467 (GRCm39) |
C874R |
probably benign |
Het |
Tymp |
T |
A |
15: 89,258,534 (GRCm39) |
H269L |
probably damaging |
Het |
Vmn1r194 |
T |
A |
13: 22,428,597 (GRCm39) |
Y71* |
probably null |
Het |
Vmn2r102 |
T |
C |
17: 19,897,804 (GRCm39) |
V273A |
probably benign |
Het |
Vps13a |
T |
C |
19: 16,643,688 (GRCm39) |
T2063A |
probably benign |
Het |
Ywhaz |
T |
C |
15: 36,775,510 (GRCm39) |
I217M |
probably damaging |
Het |
Zfp322a |
A |
C |
13: 23,541,579 (GRCm39) |
Y54* |
probably null |
Het |
Zswim9 |
A |
T |
7: 12,994,662 (GRCm39) |
V498D |
probably damaging |
Het |
|
Other mutations in Vmn2r2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00326:Vmn2r2
|
APN |
3 |
64,041,319 (GRCm39) |
splice site |
probably benign |
|
IGL00980:Vmn2r2
|
APN |
3 |
64,024,601 (GRCm39) |
missense |
probably benign |
0.11 |
IGL01389:Vmn2r2
|
APN |
3 |
64,024,430 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL01804:Vmn2r2
|
APN |
3 |
64,041,677 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL02750:Vmn2r2
|
APN |
3 |
64,024,823 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02829:Vmn2r2
|
APN |
3 |
64,026,172 (GRCm39) |
splice site |
probably benign |
|
IGL03036:Vmn2r2
|
APN |
3 |
64,024,321 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03174:Vmn2r2
|
APN |
3 |
64,024,544 (GRCm39) |
nonsense |
probably null |
|
PIT4151001:Vmn2r2
|
UTSW |
3 |
64,024,334 (GRCm39) |
missense |
possibly damaging |
0.67 |
R0029:Vmn2r2
|
UTSW |
3 |
64,024,365 (GRCm39) |
missense |
probably benign |
0.00 |
R0310:Vmn2r2
|
UTSW |
3 |
64,042,039 (GRCm39) |
missense |
probably damaging |
1.00 |
R0357:Vmn2r2
|
UTSW |
3 |
64,041,320 (GRCm39) |
splice site |
probably null |
|
R0637:Vmn2r2
|
UTSW |
3 |
64,033,999 (GRCm39) |
missense |
probably benign |
0.00 |
R1626:Vmn2r2
|
UTSW |
3 |
64,041,921 (GRCm39) |
missense |
possibly damaging |
0.61 |
R1662:Vmn2r2
|
UTSW |
3 |
64,024,551 (GRCm39) |
missense |
probably benign |
0.00 |
R1710:Vmn2r2
|
UTSW |
3 |
64,024,820 (GRCm39) |
missense |
probably benign |
0.19 |
R1797:Vmn2r2
|
UTSW |
3 |
64,042,128 (GRCm39) |
missense |
probably benign |
0.00 |
R1862:Vmn2r2
|
UTSW |
3 |
64,041,942 (GRCm39) |
missense |
possibly damaging |
0.79 |
R1971:Vmn2r2
|
UTSW |
3 |
64,034,121 (GRCm39) |
missense |
probably damaging |
1.00 |
R2051:Vmn2r2
|
UTSW |
3 |
64,024,766 (GRCm39) |
missense |
possibly damaging |
0.77 |
R2099:Vmn2r2
|
UTSW |
3 |
64,024,474 (GRCm39) |
missense |
probably damaging |
1.00 |
R2275:Vmn2r2
|
UTSW |
3 |
64,023,930 (GRCm39) |
missense |
probably benign |
0.00 |
R3078:Vmn2r2
|
UTSW |
3 |
64,042,053 (GRCm39) |
missense |
probably benign |
0.22 |
R3418:Vmn2r2
|
UTSW |
3 |
64,024,320 (GRCm39) |
missense |
probably benign |
0.00 |
R3419:Vmn2r2
|
UTSW |
3 |
64,024,320 (GRCm39) |
missense |
probably benign |
0.00 |
R3959:Vmn2r2
|
UTSW |
3 |
64,047,947 (GRCm39) |
missense |
probably benign |
|
R4230:Vmn2r2
|
UTSW |
3 |
64,041,912 (GRCm39) |
missense |
probably benign |
0.00 |
R4258:Vmn2r2
|
UTSW |
3 |
64,042,118 (GRCm39) |
missense |
probably damaging |
1.00 |
R4810:Vmn2r2
|
UTSW |
3 |
64,044,883 (GRCm39) |
missense |
probably damaging |
1.00 |
R4822:Vmn2r2
|
UTSW |
3 |
64,041,960 (GRCm39) |
missense |
probably damaging |
0.99 |
R4919:Vmn2r2
|
UTSW |
3 |
64,024,578 (GRCm39) |
missense |
possibly damaging |
0.56 |
R4925:Vmn2r2
|
UTSW |
3 |
64,044,892 (GRCm39) |
start codon destroyed |
probably null |
0.03 |
R4954:Vmn2r2
|
UTSW |
3 |
64,047,905 (GRCm39) |
missense |
probably benign |
0.00 |
R5071:Vmn2r2
|
UTSW |
3 |
64,024,321 (GRCm39) |
missense |
probably benign |
0.01 |
R5315:Vmn2r2
|
UTSW |
3 |
64,024,377 (GRCm39) |
missense |
probably benign |
0.37 |
R5450:Vmn2r2
|
UTSW |
3 |
64,034,011 (GRCm39) |
missense |
probably benign |
|
R5577:Vmn2r2
|
UTSW |
3 |
64,024,416 (GRCm39) |
missense |
probably benign |
0.00 |
R5595:Vmn2r2
|
UTSW |
3 |
64,034,036 (GRCm39) |
missense |
possibly damaging |
0.74 |
R5727:Vmn2r2
|
UTSW |
3 |
64,024,608 (GRCm39) |
missense |
probably benign |
0.41 |
R5919:Vmn2r2
|
UTSW |
3 |
64,044,723 (GRCm39) |
missense |
probably benign |
0.39 |
R6052:Vmn2r2
|
UTSW |
3 |
64,024,782 (GRCm39) |
missense |
possibly damaging |
0.56 |
R6084:Vmn2r2
|
UTSW |
3 |
64,024,467 (GRCm39) |
missense |
probably benign |
0.01 |
R6299:Vmn2r2
|
UTSW |
3 |
64,024,074 (GRCm39) |
nonsense |
probably null |
|
R6762:Vmn2r2
|
UTSW |
3 |
64,041,870 (GRCm39) |
missense |
probably damaging |
1.00 |
R6858:Vmn2r2
|
UTSW |
3 |
64,044,915 (GRCm39) |
missense |
probably damaging |
1.00 |
R6889:Vmn2r2
|
UTSW |
3 |
64,024,688 (GRCm39) |
missense |
probably damaging |
0.99 |
R6990:Vmn2r2
|
UTSW |
3 |
64,024,608 (GRCm39) |
missense |
probably benign |
0.02 |
R7195:Vmn2r2
|
UTSW |
3 |
64,023,900 (GRCm39) |
missense |
probably benign |
0.01 |
R7269:Vmn2r2
|
UTSW |
3 |
64,033,998 (GRCm39) |
missense |
probably benign |
0.32 |
R7699:Vmn2r2
|
UTSW |
3 |
64,024,536 (GRCm39) |
missense |
possibly damaging |
0.69 |
R7717:Vmn2r2
|
UTSW |
3 |
64,042,019 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7798:Vmn2r2
|
UTSW |
3 |
64,041,518 (GRCm39) |
missense |
possibly damaging |
0.60 |
R7914:Vmn2r2
|
UTSW |
3 |
64,041,526 (GRCm39) |
missense |
probably benign |
0.20 |
R7974:Vmn2r2
|
UTSW |
3 |
64,024,808 (GRCm39) |
missense |
probably damaging |
0.99 |
R8394:Vmn2r2
|
UTSW |
3 |
64,044,858 (GRCm39) |
missense |
probably damaging |
1.00 |
R8478:Vmn2r2
|
UTSW |
3 |
64,024,257 (GRCm39) |
missense |
possibly damaging |
0.87 |
R8731:Vmn2r2
|
UTSW |
3 |
64,024,404 (GRCm39) |
missense |
probably benign |
0.16 |
R9035:Vmn2r2
|
UTSW |
3 |
64,024,172 (GRCm39) |
missense |
probably damaging |
1.00 |
R9182:Vmn2r2
|
UTSW |
3 |
64,044,802 (GRCm39) |
missense |
probably damaging |
1.00 |
R9225:Vmn2r2
|
UTSW |
3 |
64,034,021 (GRCm39) |
missense |
probably benign |
0.00 |
R9266:Vmn2r2
|
UTSW |
3 |
64,024,057 (GRCm39) |
missense |
probably damaging |
0.98 |
R9427:Vmn2r2
|
UTSW |
3 |
64,041,945 (GRCm39) |
missense |
probably damaging |
1.00 |
R9659:Vmn2r2
|
UTSW |
3 |
64,041,942 (GRCm39) |
missense |
possibly damaging |
0.79 |
R9666:Vmn2r2
|
UTSW |
3 |
64,023,870 (GRCm39) |
missense |
probably benign |
0.08 |
R9771:Vmn2r2
|
UTSW |
3 |
64,042,079 (GRCm39) |
missense |
possibly damaging |
0.88 |
R9788:Vmn2r2
|
UTSW |
3 |
64,041,942 (GRCm39) |
missense |
possibly damaging |
0.79 |
X0024:Vmn2r2
|
UTSW |
3 |
64,044,707 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- GGCTTTCACCAATGGAGTGTG -3'
(R):5'- AGCCCTCGATCTATTACTGCAC -3'
Sequencing Primer
(F):5'- ACCAATGGAGTGTGTCTGTGGATTAC -3'
(R):5'- AGTGACAACTGGGTTCCA -3'
|
Posted On |
2016-12-15 |