Incidental Mutation 'R7539:Vmn2r118'
ID |
583818 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r118
|
Ensembl Gene |
ENSMUSG00000091504 |
Gene Name |
vomeronasal 2, receptor 118 |
Synonyms |
Vmn2r119, EG668547, EG383258 |
MMRRC Submission |
045611-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.128)
|
Stock # |
R7539 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
55899341-55931672 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 55899853 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 684
(T684S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131128
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168440]
|
AlphaFold |
E9Q1C1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000168440
AA Change: T684S
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000131128 Gene: ENSMUSG00000091504 AA Change: T684S
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
Pfam:ANF_receptor
|
142 |
470 |
4.6e-27 |
PFAM |
Pfam:NCD3G
|
513 |
566 |
2.6e-20 |
PFAM |
Pfam:7tm_3
|
599 |
834 |
5.9e-55 |
PFAM |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
100% (63/63) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930516K23Rik |
T |
C |
7: 103,708,470 (GRCm39) |
E113G |
probably damaging |
Het |
Abcf3 |
T |
C |
16: 20,371,382 (GRCm39) |
|
probably null |
Het |
Agbl1 |
T |
C |
7: 76,075,677 (GRCm39) |
|
probably null |
Het |
Ap5m1 |
C |
A |
14: 49,311,014 (GRCm39) |
P28Q |
probably damaging |
Het |
Bet1l |
T |
C |
7: 140,434,457 (GRCm39) |
D83G |
probably benign |
Het |
Birc6 |
T |
C |
17: 74,956,691 (GRCm39) |
S3571P |
probably damaging |
Het |
Bod1l |
A |
T |
5: 41,975,203 (GRCm39) |
M2037K |
possibly damaging |
Het |
Ccdc80 |
A |
T |
16: 44,915,445 (GRCm39) |
E67V |
probably benign |
Het |
Cep112 |
A |
G |
11: 108,746,654 (GRCm39) |
M133V |
probably benign |
Het |
Ckmt2 |
C |
A |
13: 92,008,063 (GRCm39) |
D224Y |
probably damaging |
Het |
Cplane1 |
A |
G |
15: 8,230,728 (GRCm39) |
I1002V |
probably benign |
Het |
Crb1 |
T |
G |
1: 139,175,967 (GRCm39) |
K672T |
probably damaging |
Het |
Dnhd1 |
T |
C |
7: 105,370,119 (GRCm39) |
S4515P |
probably damaging |
Het |
Dock9 |
A |
G |
14: 121,818,848 (GRCm39) |
S1545P |
probably damaging |
Het |
Dop1a |
T |
G |
9: 86,403,626 (GRCm39) |
S145A |
probably benign |
Het |
Eps8l1 |
T |
C |
7: 4,473,036 (GRCm39) |
S92P |
probably damaging |
Het |
Faap100 |
T |
C |
11: 120,268,464 (GRCm39) |
D103G |
possibly damaging |
Het |
Fech |
T |
A |
18: 64,616,565 (GRCm39) |
|
probably null |
Het |
Folh1 |
T |
A |
7: 86,375,117 (GRCm39) |
E623V |
probably benign |
Het |
Galnt5 |
T |
C |
2: 57,925,242 (GRCm39) |
L841P |
probably damaging |
Het |
Ggh |
C |
G |
4: 20,049,833 (GRCm39) |
S88C |
probably damaging |
Het |
Gm10577 |
C |
T |
4: 100,877,893 (GRCm39) |
V1I |
unknown |
Het |
Grip1 |
T |
A |
10: 119,890,776 (GRCm39) |
H938Q |
probably benign |
Het |
Gucy2g |
G |
A |
19: 55,191,586 (GRCm39) |
A955V |
probably damaging |
Het |
Hpd |
G |
C |
5: 123,316,255 (GRCm39) |
Y165* |
probably null |
Het |
Iqsec1 |
C |
A |
6: 90,639,873 (GRCm39) |
R955L |
probably benign |
Het |
Masp1 |
A |
T |
16: 23,289,128 (GRCm39) |
H557Q |
possibly damaging |
Het |
Muc4 |
C |
T |
16: 32,576,770 (GRCm39) |
T20M |
|
Het |
Myo16 |
T |
C |
8: 10,411,095 (GRCm39) |
|
probably null |
Het |
Nfkb2 |
T |
C |
19: 46,296,662 (GRCm39) |
F273L |
possibly damaging |
Het |
Nherf2 |
G |
T |
17: 24,860,873 (GRCm39) |
A223D |
probably damaging |
Het |
Or11l3 |
A |
T |
11: 58,516,782 (GRCm39) |
I29N |
probably damaging |
Het |
Or1l8 |
T |
C |
2: 36,817,221 (GRCm39) |
R302G |
probably benign |
Het |
Or2a56 |
T |
C |
6: 42,933,037 (GRCm39) |
C202R |
possibly damaging |
Het |
Or4k49 |
T |
C |
2: 111,494,778 (GRCm39) |
V69A |
possibly damaging |
Het |
Or52ab7 |
A |
G |
7: 102,977,701 (GRCm39) |
S3G |
probably benign |
Het |
Or52e3 |
T |
C |
7: 102,869,273 (GRCm39) |
V116A |
possibly damaging |
Het |
Or5b124 |
C |
T |
19: 13,610,933 (GRCm39) |
Q153* |
probably null |
Het |
Or6c2 |
A |
T |
10: 129,362,974 (GRCm39) |
K293* |
probably null |
Het |
Or6c69 |
T |
C |
10: 129,747,932 (GRCm39) |
T72A |
probably damaging |
Het |
Or7e174 |
A |
T |
9: 20,012,915 (GRCm39) |
M287L |
probably benign |
Het |
Parp4 |
T |
A |
14: 56,873,212 (GRCm39) |
I1152N |
probably damaging |
Het |
Peg3 |
T |
C |
7: 6,711,167 (GRCm39) |
T1352A |
probably benign |
Het |
Pik3c2a |
T |
C |
7: 115,939,331 (GRCm39) |
N1669S |
probably damaging |
Het |
Pinx1 |
A |
T |
14: 64,156,655 (GRCm39) |
Q194L |
probably benign |
Het |
Podxl2 |
A |
C |
6: 88,826,311 (GRCm39) |
S268A |
probably benign |
Het |
Polr2c |
C |
A |
8: 95,597,407 (GRCm39) |
H363N |
unknown |
Het |
Prlr |
C |
T |
15: 10,329,109 (GRCm39) |
T528I |
probably benign |
Het |
Rab37 |
A |
C |
11: 115,051,487 (GRCm39) |
Q198P |
probably benign |
Het |
Rrm2b |
T |
A |
15: 37,937,595 (GRCm39) |
|
probably null |
Het |
Serpina3b |
T |
C |
12: 104,096,970 (GRCm39) |
S84P |
possibly damaging |
Het |
Stat4 |
A |
T |
1: 52,110,868 (GRCm39) |
|
probably null |
Het |
Them6 |
T |
C |
15: 74,595,349 (GRCm39) |
I185T |
probably damaging |
Het |
Tmco4 |
T |
A |
4: 138,749,010 (GRCm39) |
M316K |
probably benign |
Het |
Tmtc4 |
G |
T |
14: 123,215,701 (GRCm39) |
|
probably null |
Het |
Tnni3k |
A |
T |
3: 154,667,668 (GRCm39) |
N248K |
probably benign |
Het |
Trim43a |
T |
A |
9: 88,465,096 (GRCm39) |
L141Q |
probably benign |
Het |
Utp20 |
C |
T |
10: 88,627,607 (GRCm39) |
V953M |
probably damaging |
Het |
Wasl |
A |
T |
6: 24,619,197 (GRCm39) |
I441N |
unknown |
Het |
Wfikkn2 |
T |
C |
11: 94,133,185 (GRCm39) |
D64G |
probably damaging |
Het |
Zfp128 |
C |
A |
7: 12,624,479 (GRCm39) |
Y282* |
probably null |
Het |
|
Other mutations in Vmn2r118 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00091:Vmn2r118
|
APN |
17 |
55,899,708 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00976:Vmn2r118
|
APN |
17 |
55,900,204 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01419:Vmn2r118
|
APN |
17 |
55,900,000 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01796:Vmn2r118
|
APN |
17 |
55,915,585 (GRCm39) |
missense |
probably benign |
0.30 |
IGL01799:Vmn2r118
|
APN |
17 |
55,899,990 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02002:Vmn2r118
|
APN |
17 |
55,899,619 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02075:Vmn2r118
|
APN |
17 |
55,917,517 (GRCm39) |
missense |
probably benign |
0.18 |
IGL02172:Vmn2r118
|
APN |
17 |
55,931,598 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02529:Vmn2r118
|
APN |
17 |
55,917,870 (GRCm39) |
missense |
possibly damaging |
0.58 |
IGL02712:Vmn2r118
|
APN |
17 |
55,899,655 (GRCm39) |
missense |
probably benign |
0.21 |
IGL03096:Vmn2r118
|
APN |
17 |
55,914,996 (GRCm39) |
missense |
probably damaging |
1.00 |
R0306:Vmn2r118
|
UTSW |
17 |
55,915,616 (GRCm39) |
missense |
possibly damaging |
0.89 |
R0329:Vmn2r118
|
UTSW |
17 |
55,917,717 (GRCm39) |
missense |
probably damaging |
1.00 |
R0330:Vmn2r118
|
UTSW |
17 |
55,917,717 (GRCm39) |
missense |
probably damaging |
1.00 |
R0396:Vmn2r118
|
UTSW |
17 |
55,915,643 (GRCm39) |
missense |
probably benign |
0.00 |
R0411:Vmn2r118
|
UTSW |
17 |
55,918,021 (GRCm39) |
splice site |
probably benign |
|
R0513:Vmn2r118
|
UTSW |
17 |
55,917,970 (GRCm39) |
nonsense |
probably null |
|
R0627:Vmn2r118
|
UTSW |
17 |
55,917,772 (GRCm39) |
missense |
probably benign |
0.01 |
R0638:Vmn2r118
|
UTSW |
17 |
55,915,466 (GRCm39) |
missense |
probably benign |
0.03 |
R1328:Vmn2r118
|
UTSW |
17 |
55,915,620 (GRCm39) |
missense |
probably benign |
0.01 |
R1366:Vmn2r118
|
UTSW |
17 |
55,900,237 (GRCm39) |
nonsense |
probably null |
|
R1465:Vmn2r118
|
UTSW |
17 |
55,917,935 (GRCm39) |
missense |
probably benign |
0.33 |
R1465:Vmn2r118
|
UTSW |
17 |
55,917,935 (GRCm39) |
missense |
probably benign |
0.33 |
R1511:Vmn2r118
|
UTSW |
17 |
55,915,496 (GRCm39) |
nonsense |
probably null |
|
R1515:Vmn2r118
|
UTSW |
17 |
55,917,643 (GRCm39) |
missense |
probably benign |
0.25 |
R1550:Vmn2r118
|
UTSW |
17 |
55,915,083 (GRCm39) |
missense |
probably damaging |
1.00 |
R1779:Vmn2r118
|
UTSW |
17 |
55,918,530 (GRCm39) |
missense |
probably benign |
0.03 |
R1834:Vmn2r118
|
UTSW |
17 |
55,899,456 (GRCm39) |
missense |
probably damaging |
1.00 |
R1840:Vmn2r118
|
UTSW |
17 |
55,917,406 (GRCm39) |
nonsense |
probably null |
|
R1854:Vmn2r118
|
UTSW |
17 |
55,918,556 (GRCm39) |
missense |
possibly damaging |
0.57 |
R1967:Vmn2r118
|
UTSW |
17 |
55,899,882 (GRCm39) |
missense |
probably damaging |
1.00 |
R1976:Vmn2r118
|
UTSW |
17 |
55,899,925 (GRCm39) |
missense |
probably damaging |
1.00 |
R2308:Vmn2r118
|
UTSW |
17 |
55,931,650 (GRCm39) |
missense |
probably benign |
0.33 |
R3700:Vmn2r118
|
UTSW |
17 |
55,915,421 (GRCm39) |
missense |
possibly damaging |
0.68 |
R4334:Vmn2r118
|
UTSW |
17 |
55,917,347 (GRCm39) |
missense |
possibly damaging |
0.58 |
R4647:Vmn2r118
|
UTSW |
17 |
55,917,665 (GRCm39) |
missense |
probably damaging |
1.00 |
R4709:Vmn2r118
|
UTSW |
17 |
55,917,860 (GRCm39) |
missense |
probably damaging |
1.00 |
R4805:Vmn2r118
|
UTSW |
17 |
55,899,581 (GRCm39) |
missense |
probably damaging |
1.00 |
R4858:Vmn2r118
|
UTSW |
17 |
55,899,894 (GRCm39) |
missense |
probably damaging |
0.98 |
R5384:Vmn2r118
|
UTSW |
17 |
55,918,565 (GRCm39) |
missense |
probably benign |
0.00 |
R5385:Vmn2r118
|
UTSW |
17 |
55,918,565 (GRCm39) |
missense |
probably benign |
0.00 |
R5664:Vmn2r118
|
UTSW |
17 |
55,899,765 (GRCm39) |
missense |
possibly damaging |
0.46 |
R5740:Vmn2r118
|
UTSW |
17 |
55,900,103 (GRCm39) |
missense |
probably benign |
0.00 |
R5927:Vmn2r118
|
UTSW |
17 |
55,931,494 (GRCm39) |
missense |
probably benign |
0.04 |
R6143:Vmn2r118
|
UTSW |
17 |
55,899,871 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6513:Vmn2r118
|
UTSW |
17 |
55,915,093 (GRCm39) |
missense |
probably damaging |
1.00 |
R6573:Vmn2r118
|
UTSW |
17 |
55,899,996 (GRCm39) |
missense |
probably damaging |
1.00 |
R6760:Vmn2r118
|
UTSW |
17 |
55,899,714 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6794:Vmn2r118
|
UTSW |
17 |
55,899,348 (GRCm39) |
missense |
possibly damaging |
0.48 |
R6929:Vmn2r118
|
UTSW |
17 |
55,917,440 (GRCm39) |
missense |
probably benign |
0.01 |
R7201:Vmn2r118
|
UTSW |
17 |
55,915,496 (GRCm39) |
nonsense |
probably null |
|
R7836:Vmn2r118
|
UTSW |
17 |
55,900,242 (GRCm39) |
missense |
probably damaging |
0.99 |
R8179:Vmn2r118
|
UTSW |
17 |
55,915,484 (GRCm39) |
missense |
probably benign |
0.36 |
R8248:Vmn2r118
|
UTSW |
17 |
55,917,936 (GRCm39) |
missense |
probably benign |
0.18 |
R8347:Vmn2r118
|
UTSW |
17 |
55,917,423 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8415:Vmn2r118
|
UTSW |
17 |
55,915,057 (GRCm39) |
missense |
probably benign |
0.08 |
R8428:Vmn2r118
|
UTSW |
17 |
55,915,642 (GRCm39) |
missense |
probably benign |
0.33 |
R8917:Vmn2r118
|
UTSW |
17 |
55,917,216 (GRCm39) |
missense |
possibly damaging |
0.82 |
R8993:Vmn2r118
|
UTSW |
17 |
55,917,835 (GRCm39) |
missense |
possibly damaging |
0.72 |
R9038:Vmn2r118
|
UTSW |
17 |
55,918,649 (GRCm39) |
missense |
probably damaging |
1.00 |
R9155:Vmn2r118
|
UTSW |
17 |
55,917,207 (GRCm39) |
missense |
probably null |
0.83 |
R9603:Vmn2r118
|
UTSW |
17 |
55,899,837 (GRCm39) |
missense |
probably damaging |
1.00 |
R9742:Vmn2r118
|
UTSW |
17 |
55,918,009 (GRCm39) |
missense |
probably damaging |
0.98 |
R9749:Vmn2r118
|
UTSW |
17 |
55,915,415 (GRCm39) |
critical splice donor site |
probably null |
|
R9792:Vmn2r118
|
UTSW |
17 |
55,899,496 (GRCm39) |
missense |
probably damaging |
0.99 |
R9793:Vmn2r118
|
UTSW |
17 |
55,899,496 (GRCm39) |
missense |
probably damaging |
0.99 |
R9795:Vmn2r118
|
UTSW |
17 |
55,899,496 (GRCm39) |
missense |
probably damaging |
0.99 |
X0022:Vmn2r118
|
UTSW |
17 |
55,900,218 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Vmn2r118
|
UTSW |
17 |
55,917,655 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- TCCCAGCACAGAGTAGAAGG -3'
(R):5'- TTGTGAAAGCTAATAACCGCACTC -3'
Sequencing Primer
(F):5'- ATAAGTGAGCCCTTGTTGCAC -3'
(R):5'- GCACTCTCAGCTACATCCTG -3'
|
Posted On |
2019-10-17 |