Incidental Mutation 'R4709:Vmn2r118'
ID |
355516 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r118
|
Ensembl Gene |
ENSMUSG00000091504 |
Gene Name |
vomeronasal 2, receptor 118 |
Synonyms |
Vmn2r119, EG668547, EG383258 |
MMRRC Submission |
042018-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.128)
|
Stock # |
R4709 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
55899341-55931672 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 55917860 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 217
(D217E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131128
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168440]
|
AlphaFold |
E9Q1C1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000168440
AA Change: D217E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000131128 Gene: ENSMUSG00000091504 AA Change: D217E
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: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.9%
|
Validation Efficiency |
97% (77/79) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcf1 |
G |
A |
17: 36,271,069 (GRCm39) |
T463M |
probably damaging |
Het |
Arhgap35 |
C |
T |
7: 16,297,511 (GRCm39) |
G518D |
probably damaging |
Het |
Arhgdia |
A |
G |
11: 120,470,517 (GRCm39) |
Y110H |
probably damaging |
Het |
Atp8b3 |
T |
C |
10: 80,372,604 (GRCm39) |
|
probably null |
Het |
Bpifb6 |
T |
A |
2: 153,750,436 (GRCm39) |
I309N |
possibly damaging |
Het |
Cbr4 |
T |
C |
8: 61,943,061 (GRCm39) |
V77A |
possibly damaging |
Het |
Cers2 |
A |
G |
3: 95,227,534 (GRCm39) |
Y54C |
possibly damaging |
Het |
Cnbp |
A |
T |
6: 87,821,120 (GRCm39) |
H145Q |
probably damaging |
Het |
Csmd1 |
A |
T |
8: 16,073,905 (GRCm39) |
I2030N |
possibly damaging |
Het |
Csmd1 |
A |
G |
8: 16,760,522 (GRCm39) |
|
probably null |
Het |
Dhodh |
T |
C |
8: 110,328,170 (GRCm39) |
|
probably null |
Het |
Dnah11 |
T |
A |
12: 117,982,495 (GRCm39) |
Y2558F |
probably benign |
Het |
Dysf |
C |
A |
6: 84,074,697 (GRCm39) |
D499E |
probably damaging |
Het |
En1 |
A |
T |
1: 120,534,872 (GRCm39) |
Y387F |
unknown |
Het |
Ephb2 |
C |
A |
4: 136,423,363 (GRCm39) |
C305F |
probably damaging |
Het |
Fryl |
A |
G |
5: 73,238,315 (GRCm39) |
V1477A |
probably benign |
Het |
Gimap3 |
A |
T |
6: 48,742,327 (GRCm39) |
L201Q |
probably benign |
Het |
Gm10801 |
T |
G |
2: 98,494,246 (GRCm39) |
|
probably null |
Het |
Grhl1 |
A |
G |
12: 24,636,132 (GRCm39) |
I283V |
possibly damaging |
Het |
Grid2ip |
T |
A |
5: 143,374,658 (GRCm39) |
L926H |
probably damaging |
Het |
Gtf2h2 |
G |
T |
13: 100,605,523 (GRCm39) |
C82* |
probably null |
Het |
Gtf2ird1 |
T |
C |
5: 134,433,588 (GRCm39) |
T280A |
probably benign |
Het |
Gzmd |
T |
C |
14: 56,367,698 (GRCm39) |
I192V |
probably null |
Het |
Hectd1 |
A |
G |
12: 51,834,695 (GRCm39) |
V855A |
possibly damaging |
Het |
Hey1 |
A |
G |
3: 8,730,963 (GRCm39) |
|
probably benign |
Het |
Hpx |
A |
G |
7: 105,249,243 (GRCm39) |
S19P |
probably benign |
Het |
Incenp |
G |
A |
19: 9,853,964 (GRCm39) |
R696W |
unknown |
Het |
Itgam |
T |
C |
7: 127,700,709 (GRCm39) |
V493A |
probably damaging |
Het |
Ldlrad3 |
A |
G |
2: 101,900,343 (GRCm39) |
I53T |
probably damaging |
Het |
Map3k7 |
G |
T |
4: 31,985,700 (GRCm39) |
E208* |
probably null |
Het |
Myh9 |
A |
T |
15: 77,671,717 (GRCm39) |
I458N |
probably damaging |
Het |
Myo1c |
C |
T |
11: 75,560,856 (GRCm39) |
R770* |
probably null |
Het |
Nectin3 |
T |
A |
16: 46,284,306 (GRCm39) |
Y126F |
possibly damaging |
Het |
Nek5 |
A |
T |
8: 22,573,443 (GRCm39) |
N504K |
probably damaging |
Het |
Nlrp4c |
T |
A |
7: 6,068,424 (GRCm39) |
H108Q |
probably benign |
Het |
Or10d5 |
A |
T |
9: 39,861,165 (GRCm39) |
L301M |
probably damaging |
Het |
Or2ak4 |
T |
C |
11: 58,649,013 (GRCm39) |
V174A |
possibly damaging |
Het |
Or2at1 |
A |
T |
7: 99,416,989 (GRCm39) |
I207F |
probably damaging |
Het |
Or5h17 |
A |
T |
16: 58,820,458 (GRCm39) |
T137S |
probably benign |
Het |
Or9a2 |
G |
T |
6: 41,748,442 (GRCm39) |
Q264K |
probably benign |
Het |
Or9i14 |
T |
A |
19: 13,792,814 (GRCm39) |
I47F |
possibly damaging |
Het |
Parp6 |
T |
C |
9: 59,549,052 (GRCm39) |
I507T |
probably damaging |
Het |
Pcdhb12 |
A |
G |
18: 37,570,548 (GRCm39) |
T565A |
probably benign |
Het |
Pclo |
A |
G |
5: 14,828,572 (GRCm39) |
N4676D |
unknown |
Het |
Pdlim1 |
T |
A |
19: 40,211,180 (GRCm39) |
H278L |
probably benign |
Het |
Pfkfb3 |
G |
A |
2: 11,498,719 (GRCm39) |
T46M |
probably damaging |
Het |
Plscr2 |
A |
G |
9: 92,173,067 (GRCm39) |
Y203C |
probably damaging |
Het |
Plxna1 |
T |
C |
6: 89,311,733 (GRCm39) |
D924G |
possibly damaging |
Het |
Postn |
T |
A |
3: 54,292,031 (GRCm39) |
|
probably benign |
Het |
Ptpn23 |
A |
G |
9: 110,217,924 (GRCm39) |
S674P |
possibly damaging |
Het |
Ranbp6 |
C |
T |
19: 29,788,984 (GRCm39) |
R456Q |
probably benign |
Het |
Rbm43 |
A |
T |
2: 51,819,728 (GRCm39) |
V46E |
probably damaging |
Het |
Rlig1 |
T |
C |
10: 100,414,243 (GRCm39) |
I139V |
probably benign |
Het |
Rtn4r |
A |
G |
16: 17,969,046 (GRCm39) |
Y158C |
probably damaging |
Het |
Ryr2 |
A |
G |
13: 11,731,884 (GRCm39) |
I2352T |
probably damaging |
Het |
Sbk2 |
G |
T |
7: 4,960,577 (GRCm39) |
R198S |
possibly damaging |
Het |
Scube3 |
G |
A |
17: 28,386,166 (GRCm39) |
|
probably null |
Het |
Slc45a1 |
G |
A |
4: 150,722,697 (GRCm39) |
P396S |
probably benign |
Het |
Slc4a10 |
A |
G |
2: 62,087,861 (GRCm39) |
D418G |
probably null |
Het |
Smarcad1 |
A |
G |
6: 65,052,099 (GRCm39) |
T411A |
probably benign |
Het |
Smtn |
G |
A |
11: 3,474,663 (GRCm39) |
S716F |
probably damaging |
Het |
Stag1 |
G |
T |
9: 100,620,092 (GRCm39) |
R65L |
probably damaging |
Het |
Stat1 |
A |
T |
1: 52,165,680 (GRCm39) |
D92V |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,582,428 (GRCm39) |
Y22822H |
probably damaging |
Het |
Vmn1r172 |
A |
G |
7: 23,359,606 (GRCm39) |
T164A |
probably benign |
Het |
Vmn2r26 |
A |
G |
6: 124,030,924 (GRCm39) |
E553G |
probably damaging |
Het |
Vmn2r96 |
T |
C |
17: 18,803,088 (GRCm39) |
F333L |
probably benign |
Het |
Ypel5 |
G |
A |
17: 73,155,726 (GRCm39) |
R98H |
probably benign |
Het |
Zfp719 |
C |
T |
7: 43,239,656 (GRCm39) |
H415Y |
probably damaging |
Het |
Zyg11a |
T |
C |
4: 108,062,268 (GRCm39) |
S176G |
probably benign |
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 |
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'- CCCATTGTGAGGTGGTGAAC -3'
(R):5'- GACAGCAACCCTCTTCCTCATG -3'
Sequencing Primer
(F):5'- GAACCAGATTTTCTGTGTGCC -3'
(R):5'- CATGTGGCTTTCTTGTTCTGC -3'
|
Posted On |
2015-10-21 |