Incidental Mutation 'R6143:Vmn2r118'
ID |
488710 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r118
|
Ensembl Gene |
ENSMUSG00000091504 |
Gene Name |
vomeronasal 2, receptor 118 |
Synonyms |
Vmn2r119, EG668547, EG383258 |
MMRRC Submission |
044290-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.128)
|
Stock # |
R6143 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
55899341-55931672 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 55899871 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Isoleucine
at position 678
(L678I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131128
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168440]
|
AlphaFold |
E9Q1C1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000168440
AA Change: L678I
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000131128 Gene: ENSMUSG00000091504 AA Change: L678I
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: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.1%
|
Validation Efficiency |
98% (62/63) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A730061H03Rik |
A |
G |
14: 55,797,736 (GRCm39) |
|
probably benign |
Het |
Abcd2 |
A |
T |
15: 91,075,150 (GRCm39) |
V221E |
possibly damaging |
Het |
Arhgap39 |
T |
A |
15: 76,614,606 (GRCm39) |
K853* |
probably null |
Het |
Art2a |
T |
C |
7: 101,204,430 (GRCm39) |
D36G |
possibly damaging |
Het |
Atp13a1 |
C |
T |
8: 70,258,010 (GRCm39) |
P922S |
probably benign |
Het |
Brwd1 |
C |
T |
16: 95,804,156 (GRCm39) |
G2005R |
probably benign |
Het |
Bzw2 |
A |
T |
12: 36,170,725 (GRCm39) |
M133K |
probably benign |
Het |
Cacna1s |
T |
G |
1: 136,004,496 (GRCm39) |
S346A |
probably damaging |
Het |
Cebpb |
C |
A |
2: 167,531,220 (GRCm39) |
D93E |
probably benign |
Het |
Cep162 |
C |
A |
9: 87,094,904 (GRCm39) |
|
probably null |
Het |
Col9a2 |
A |
T |
4: 120,911,060 (GRCm39) |
Y565F |
probably damaging |
Het |
Csgalnact1 |
T |
A |
8: 68,826,202 (GRCm39) |
N372I |
probably damaging |
Het |
Csmd1 |
T |
C |
8: 16,138,315 (GRCm39) |
D1579G |
probably damaging |
Het |
Cyfip2 |
A |
C |
11: 46,144,792 (GRCm39) |
Y687* |
probably null |
Het |
Cyp2d34 |
G |
A |
15: 82,504,977 (GRCm39) |
R28W |
probably benign |
Het |
Dbndd2 |
C |
A |
2: 164,330,206 (GRCm39) |
Q13K |
probably damaging |
Het |
Dnah5 |
T |
A |
15: 28,233,377 (GRCm39) |
S245R |
probably benign |
Het |
Dnajb5 |
A |
T |
4: 42,956,990 (GRCm39) |
T226S |
probably damaging |
Het |
Dnmt1 |
T |
C |
9: 20,838,430 (GRCm39) |
E211G |
probably benign |
Het |
Dnpep |
G |
A |
1: 75,291,872 (GRCm39) |
H214Y |
probably damaging |
Het |
Drc3 |
G |
A |
11: 60,261,406 (GRCm39) |
V186M |
possibly damaging |
Het |
Dvl3 |
A |
G |
16: 20,345,789 (GRCm39) |
D413G |
possibly damaging |
Het |
Dyrk4 |
C |
T |
6: 126,863,614 (GRCm39) |
|
probably null |
Het |
Edc4 |
T |
A |
8: 106,612,506 (GRCm39) |
D181E |
probably damaging |
Het |
Enthd1 |
T |
C |
15: 80,393,487 (GRCm39) |
Y247C |
possibly damaging |
Het |
Gm5622 |
A |
T |
14: 51,892,372 (GRCm39) |
R50S |
possibly damaging |
Het |
Gpbp1 |
G |
A |
13: 111,603,389 (GRCm39) |
T20I |
probably damaging |
Het |
Hnrnpdl |
A |
T |
5: 100,184,410 (GRCm39) |
Y276* |
probably null |
Het |
Hsd3b7 |
A |
C |
7: 127,400,404 (GRCm39) |
E51A |
probably damaging |
Het |
Ighv5-16 |
G |
T |
12: 113,802,238 (GRCm39) |
F87L |
probably damaging |
Het |
Iqsec1 |
C |
T |
6: 90,786,666 (GRCm39) |
|
probably null |
Het |
Irgm2 |
A |
T |
11: 58,111,435 (GRCm39) |
E387D |
possibly damaging |
Het |
Klhl23 |
C |
A |
2: 69,664,040 (GRCm39) |
P463Q |
possibly damaging |
Het |
Mast4 |
A |
T |
13: 102,990,391 (GRCm39) |
N43K |
probably damaging |
Het |
Mme |
T |
G |
3: 63,207,532 (GRCm39) |
|
probably null |
Het |
Mrps31 |
T |
G |
8: 22,901,539 (GRCm39) |
S20A |
probably benign |
Het |
Myo5c |
A |
G |
9: 75,157,091 (GRCm39) |
R176G |
probably damaging |
Het |
Naf1 |
T |
C |
8: 67,330,347 (GRCm39) |
V291A |
possibly damaging |
Het |
Nbeal1 |
A |
T |
1: 60,290,466 (GRCm39) |
H1021L |
possibly damaging |
Het |
Ncaph2 |
T |
C |
15: 89,248,206 (GRCm39) |
|
probably null |
Het |
Neurod4 |
T |
G |
10: 130,106,869 (GRCm39) |
Y135S |
probably damaging |
Het |
Nrp2 |
A |
T |
1: 62,799,974 (GRCm39) |
N396I |
probably damaging |
Het |
Nvl |
T |
G |
1: 180,962,560 (GRCm39) |
T137P |
probably benign |
Het |
Or5p59 |
A |
G |
7: 107,703,335 (GRCm39) |
D273G |
probably damaging |
Het |
Papola |
T |
C |
12: 105,793,219 (GRCm39) |
V513A |
probably benign |
Het |
Pcdhgc4 |
T |
A |
18: 37,950,653 (GRCm39) |
S690T |
possibly damaging |
Het |
Pck1 |
A |
T |
2: 172,995,805 (GRCm39) |
D101V |
probably damaging |
Het |
Pdilt |
T |
A |
7: 119,094,265 (GRCm39) |
N329Y |
probably damaging |
Het |
Pfkl |
T |
A |
10: 77,825,447 (GRCm39) |
R648W |
probably damaging |
Het |
Prtn3 |
T |
A |
10: 79,716,382 (GRCm39) |
I63N |
probably damaging |
Het |
Psg22 |
C |
T |
7: 18,456,723 (GRCm39) |
A163V |
probably benign |
Het |
Pten |
A |
G |
19: 32,777,485 (GRCm39) |
T160A |
possibly damaging |
Het |
Retreg2 |
A |
G |
1: 75,123,530 (GRCm39) |
D449G |
probably damaging |
Het |
Scn9a |
T |
C |
2: 66,317,868 (GRCm39) |
Y1531C |
probably benign |
Het |
Sgk2 |
T |
A |
2: 162,841,174 (GRCm39) |
C195S |
probably damaging |
Het |
Slc19a3 |
C |
T |
1: 83,004,060 (GRCm39) |
V14I |
probably benign |
Het |
Snai2 |
A |
T |
16: 14,526,107 (GRCm39) |
R253* |
probably null |
Het |
Speg |
G |
A |
1: 75,391,031 (GRCm39) |
V1512I |
probably damaging |
Het |
Srsf1 |
G |
A |
11: 87,940,425 (GRCm39) |
|
probably benign |
Het |
Tctn3 |
G |
T |
19: 40,597,671 (GRCm39) |
T190N |
probably benign |
Het |
Tmprss11f |
T |
A |
5: 86,687,558 (GRCm39) |
I117L |
probably benign |
Het |
Ttn |
G |
A |
2: 76,682,413 (GRCm39) |
R959* |
probably null |
Het |
Vps13b |
T |
C |
15: 35,668,884 (GRCm39) |
S1594P |
probably damaging |
Het |
Vps13d |
G |
T |
4: 144,875,135 (GRCm39) |
H1791N |
possibly damaging |
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 |
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'- TCCCAGCACAGAGTAGAAGG -3'
(R):5'- CCCATTGTGAAAGCTAATAACCGC -3'
Sequencing Primer
(F):5'- ATAAGTGAGCCCTTGTTGCAC -3'
(R):5'- TTGTGAAAGCTAATAACCGCACTCTC -3'
|
Posted On |
2017-10-10 |