Incidental Mutation 'R1550:Vmn2r118'
ID |
169878 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r118
|
Ensembl Gene |
ENSMUSG00000091504 |
Gene Name |
vomeronasal 2, receptor 118 |
Synonyms |
Vmn2r119, EG668547, EG383258 |
MMRRC Submission |
039589-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.128)
|
Stock # |
R1550 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
55899341-55931672 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 55915083 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Tyrosine
at position 521
(C521Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131128
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168440]
|
AlphaFold |
E9Q1C1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000168440
AA Change: C521Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000131128 Gene: ENSMUSG00000091504 AA Change: C521Y
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 |
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.4%
- 20x: 89.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc6 |
A |
G |
7: 45,654,668 (GRCm39) |
V551A |
probably benign |
Het |
Acss1 |
A |
T |
2: 150,484,715 (GRCm39) |
L176Q |
probably damaging |
Het |
Aldh7a1 |
A |
G |
18: 56,683,454 (GRCm39) |
I117T |
possibly damaging |
Het |
Arf5 |
C |
T |
6: 28,426,152 (GRCm39) |
R180C |
probably damaging |
Het |
Arhgap21 |
A |
T |
2: 20,886,576 (GRCm39) |
Y39* |
probably null |
Het |
Arrdc1 |
A |
G |
2: 24,816,351 (GRCm39) |
L206P |
probably damaging |
Het |
Cby3 |
A |
T |
11: 50,250,313 (GRCm39) |
Y173F |
probably damaging |
Het |
Cdh18 |
T |
A |
15: 23,436,634 (GRCm39) |
C497S |
probably damaging |
Het |
Cyp11b2 |
T |
C |
15: 74,725,442 (GRCm39) |
I226V |
probably benign |
Het |
Ddit4l |
T |
A |
3: 137,330,036 (GRCm39) |
|
probably null |
Het |
Ddx11 |
C |
T |
17: 66,445,215 (GRCm39) |
T405I |
probably benign |
Het |
Dhx40 |
A |
T |
11: 86,667,565 (GRCm39) |
|
probably null |
Het |
Dlgap2 |
A |
G |
8: 14,872,499 (GRCm39) |
D659G |
probably damaging |
Het |
Eef2 |
A |
G |
10: 81,016,681 (GRCm39) |
E586G |
probably benign |
Het |
Fam161a |
A |
G |
11: 22,970,470 (GRCm39) |
Q216R |
possibly damaging |
Het |
Fbxw24 |
G |
T |
9: 109,436,112 (GRCm39) |
R307S |
probably benign |
Het |
Gbp2b |
G |
T |
3: 142,312,591 (GRCm39) |
A325S |
probably damaging |
Het |
Gli1 |
A |
T |
10: 127,174,385 (GRCm39) |
F2Y |
probably damaging |
Het |
Gnl2 |
T |
C |
4: 124,938,027 (GRCm39) |
V269A |
probably damaging |
Het |
Grin1 |
A |
G |
2: 25,195,143 (GRCm39) |
V292A |
probably benign |
Het |
Heg1 |
T |
A |
16: 33,555,923 (GRCm39) |
V1001E |
probably damaging |
Het |
Herc2 |
T |
A |
7: 55,785,406 (GRCm39) |
I1552N |
probably damaging |
Het |
Htr1a |
A |
G |
13: 105,581,788 (GRCm39) |
T343A |
probably benign |
Het |
Itk |
G |
T |
11: 46,280,153 (GRCm39) |
R29S |
probably damaging |
Het |
Ivns1abp |
G |
T |
1: 151,237,242 (GRCm39) |
G469C |
probably damaging |
Het |
Jph3 |
A |
T |
8: 122,511,598 (GRCm39) |
N529Y |
possibly damaging |
Het |
Kdm2b |
A |
G |
5: 123,019,120 (GRCm39) |
L829P |
probably damaging |
Het |
Kprp |
T |
A |
3: 92,732,033 (GRCm39) |
Y339F |
probably damaging |
Het |
Lrp2 |
A |
G |
2: 69,333,005 (GRCm39) |
V1504A |
possibly damaging |
Het |
Lypd6b |
A |
G |
2: 49,833,615 (GRCm39) |
D85G |
probably damaging |
Het |
Mansc4 |
T |
C |
6: 146,977,136 (GRCm39) |
Y160C |
probably damaging |
Het |
Mgll |
C |
A |
6: 88,790,871 (GRCm39) |
H164N |
probably benign |
Het |
Mtmr4 |
A |
T |
11: 87,504,342 (GRCm39) |
D1097V |
probably damaging |
Het |
Nfasc |
T |
C |
1: 132,536,241 (GRCm39) |
K571E |
probably damaging |
Het |
Nfat5 |
A |
T |
8: 108,097,205 (GRCm39) |
N1527Y |
probably damaging |
Het |
Nlgn1 |
A |
G |
3: 25,966,808 (GRCm39) |
L215P |
probably damaging |
Het |
Or6b9 |
T |
A |
7: 106,555,235 (GRCm39) |
I303L |
probably benign |
Het |
Pde4dip |
T |
C |
3: 97,627,020 (GRCm39) |
S1173G |
probably damaging |
Het |
Prrt3 |
A |
T |
6: 113,472,468 (GRCm39) |
V568E |
probably damaging |
Het |
Ptpra |
G |
A |
2: 130,383,313 (GRCm39) |
R503Q |
possibly damaging |
Het |
Pttg1ip2 |
C |
A |
5: 5,502,019 (GRCm39) |
W144C |
probably benign |
Het |
Rnf7l |
A |
G |
10: 63,257,427 (GRCm39) |
L31P |
probably damaging |
Het |
Sema5a |
G |
A |
15: 32,618,995 (GRCm39) |
A508T |
probably benign |
Het |
Serpinb11 |
T |
C |
1: 107,307,418 (GRCm39) |
I283T |
possibly damaging |
Het |
Setbp1 |
A |
T |
18: 78,901,807 (GRCm39) |
L620Q |
probably damaging |
Het |
Sipa1l3 |
A |
T |
7: 29,082,628 (GRCm39) |
C756S |
probably benign |
Het |
Sirpa |
A |
T |
2: 129,471,961 (GRCm39) |
I463F |
probably damaging |
Het |
Slc13a2 |
G |
T |
11: 78,293,990 (GRCm39) |
N257K |
probably damaging |
Het |
Slc4a5 |
C |
A |
6: 83,248,039 (GRCm39) |
T530N |
probably damaging |
Het |
Stab2 |
A |
T |
10: 86,714,790 (GRCm39) |
F125L |
probably benign |
Het |
Tet2 |
G |
T |
3: 133,175,280 (GRCm39) |
Q1356K |
probably benign |
Het |
Tet3 |
A |
T |
6: 83,363,010 (GRCm39) |
S856T |
probably damaging |
Het |
Tg |
C |
T |
15: 66,565,279 (GRCm39) |
T1207I |
possibly damaging |
Het |
Tkt |
A |
G |
14: 30,287,525 (GRCm39) |
Y173C |
probably damaging |
Het |
Tlr6 |
T |
A |
5: 65,110,754 (GRCm39) |
I718F |
probably damaging |
Het |
Tnfrsf11b |
A |
G |
15: 54,117,454 (GRCm39) |
V267A |
possibly damaging |
Het |
Ubqln3 |
T |
A |
7: 103,790,753 (GRCm39) |
N446Y |
probably damaging |
Het |
Vps16 |
A |
G |
2: 130,282,260 (GRCm39) |
D394G |
probably benign |
Het |
Zfp236 |
A |
T |
18: 82,692,549 (GRCm39) |
M142K |
possibly damaging |
Het |
Zfp780b |
T |
C |
7: 27,664,282 (GRCm39) |
D91G |
probably benign |
Het |
Zfp97 |
T |
A |
17: 17,365,468 (GRCm39) |
Y322* |
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 |
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 |
|
R7539:Vmn2r118
|
UTSW |
17 |
55,899,853 (GRCm39) |
missense |
probably damaging |
0.98 |
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'- TTTGTCTCTTCATtgtcccgccc -3'
(R):5'- AGGTGAGTTTGGCCCAACTTAATGTTTT -3'
Sequencing Primer
(F):5'- agggtatggggaggggg -3'
(R):5'- GGCCCAACTTAATGTTTTACAAGTAG -3'
|
Posted On |
2014-04-13 |