Incidental Mutation 'R5927:Vmn2r118'
ID |
459980 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r118
|
Ensembl Gene |
ENSMUSG00000091504 |
Gene Name |
vomeronasal 2, receptor 118 |
Synonyms |
Vmn2r119, EG668547, EG383258 |
MMRRC Submission |
044122-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.128)
|
Stock # |
R5927 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
55899341-55931672 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 55931494 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Serine
at position 60
(L60S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131128
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168440]
|
AlphaFold |
E9Q1C1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000168440
AA Change: L60S
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000131128 Gene: ENSMUSG00000091504 AA Change: L60S
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.0%
|
Validation Efficiency |
100% (73/73) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acadm |
T |
A |
3: 153,644,745 (GRCm39) |
I60F |
probably damaging |
Het |
Ankrd26 |
A |
G |
6: 118,484,597 (GRCm39) |
|
probably null |
Het |
Arhgdib |
A |
T |
6: 136,901,136 (GRCm39) |
W198R |
probably damaging |
Het |
Atad5 |
T |
A |
11: 80,018,111 (GRCm39) |
I1354N |
probably damaging |
Het |
Ccdc146 |
T |
A |
5: 21,513,619 (GRCm39) |
K500* |
probably null |
Het |
Cdk11b |
G |
A |
4: 155,732,697 (GRCm39) |
|
probably benign |
Het |
Cmip |
A |
T |
8: 117,984,048 (GRCm39) |
T70S |
possibly damaging |
Het |
Col22a1 |
G |
T |
15: 71,878,815 (GRCm39) |
A114E |
probably damaging |
Het |
Cpeb1 |
T |
C |
7: 81,011,428 (GRCm39) |
D171G |
possibly damaging |
Het |
Crebzf |
C |
T |
7: 90,093,531 (GRCm39) |
|
probably benign |
Het |
Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
D630036H23Rik |
C |
A |
12: 36,431,671 (GRCm39) |
|
probably benign |
Het |
Dnah5 |
A |
T |
15: 28,335,864 (GRCm39) |
T2277S |
probably benign |
Het |
Dysf |
T |
A |
6: 84,184,194 (GRCm39) |
F2083Y |
probably damaging |
Het |
Elavl4 |
T |
A |
4: 110,147,440 (GRCm39) |
|
probably benign |
Het |
Elp3 |
A |
G |
14: 65,819,626 (GRCm39) |
Y111H |
probably damaging |
Het |
Eps8l2 |
A |
T |
7: 140,936,259 (GRCm39) |
Q243L |
probably benign |
Het |
Eri2 |
C |
A |
7: 119,385,291 (GRCm39) |
L403F |
probably damaging |
Het |
Fgfr4 |
T |
A |
13: 55,314,700 (GRCm39) |
N614K |
probably damaging |
Het |
Gm5108 |
T |
G |
5: 68,134,214 (GRCm39) |
I74S |
unknown |
Het |
Gpn1 |
T |
C |
5: 31,658,235 (GRCm39) |
F130L |
probably damaging |
Het |
Gpr176 |
T |
A |
2: 118,203,521 (GRCm39) |
I50F |
probably benign |
Het |
Gramd1a |
A |
G |
7: 30,839,246 (GRCm39) |
S221P |
probably benign |
Het |
Hivep3 |
A |
G |
4: 119,954,305 (GRCm39) |
T874A |
possibly damaging |
Het |
Igkv12-40 |
A |
G |
6: 69,856,383 (GRCm39) |
|
noncoding transcript |
Het |
Itgb2 |
C |
A |
10: 77,381,868 (GRCm39) |
P57T |
probably damaging |
Het |
Kcmf1 |
T |
A |
6: 72,819,988 (GRCm39) |
D286V |
possibly damaging |
Het |
Kcnt1 |
T |
A |
2: 25,799,388 (GRCm39) |
|
probably benign |
Het |
Kif15 |
A |
G |
9: 122,846,326 (GRCm39) |
S76G |
probably benign |
Het |
Kpna3 |
C |
T |
14: 61,622,096 (GRCm39) |
V223I |
probably damaging |
Het |
Krt80 |
A |
G |
15: 101,262,089 (GRCm39) |
|
probably benign |
Het |
Lama4 |
A |
G |
10: 38,948,808 (GRCm39) |
Y857C |
probably damaging |
Het |
Lcorl |
G |
T |
5: 45,882,766 (GRCm39) |
|
probably benign |
Het |
Map4k3 |
A |
G |
17: 80,921,348 (GRCm39) |
V528A |
probably benign |
Het |
Mmp8 |
T |
A |
9: 7,563,203 (GRCm39) |
N255K |
possibly damaging |
Het |
Npat |
A |
T |
9: 53,473,521 (GRCm39) |
K438* |
probably null |
Het |
Or4a73 |
T |
A |
2: 89,421,444 (GRCm39) |
N5I |
possibly damaging |
Het |
P4htm |
T |
C |
9: 108,474,582 (GRCm39) |
Y61C |
probably damaging |
Het |
Pgap6 |
T |
C |
17: 26,340,972 (GRCm39) |
Y692H |
probably benign |
Het |
Polr3h |
G |
T |
15: 81,801,480 (GRCm39) |
|
probably null |
Het |
Prlr |
C |
T |
15: 10,322,532 (GRCm39) |
T176I |
probably benign |
Het |
Psme4 |
T |
G |
11: 30,754,294 (GRCm39) |
F184V |
possibly damaging |
Het |
Ptgfrn |
A |
T |
3: 100,967,968 (GRCm39) |
F542I |
possibly damaging |
Het |
Rock1 |
T |
C |
18: 10,116,792 (GRCm39) |
E448G |
probably damaging |
Het |
Rpf1 |
A |
T |
3: 146,225,218 (GRCm39) |
|
probably null |
Het |
Sectm1b |
T |
C |
11: 120,946,500 (GRCm39) |
I132V |
probably benign |
Het |
Sestd1 |
T |
A |
2: 77,017,503 (GRCm39) |
H688L |
probably benign |
Het |
Sidt2 |
T |
C |
9: 45,855,752 (GRCm39) |
Y530C |
probably damaging |
Het |
Sin3a |
A |
T |
9: 57,018,395 (GRCm39) |
K938M |
probably damaging |
Het |
Sin3b |
C |
A |
8: 73,476,506 (GRCm39) |
R647S |
probably benign |
Het |
Slc16a14 |
T |
C |
1: 84,889,988 (GRCm39) |
H439R |
possibly damaging |
Het |
Stc1 |
T |
C |
14: 69,269,822 (GRCm39) |
V134A |
probably benign |
Het |
Stk11ip |
G |
A |
1: 75,501,335 (GRCm39) |
V24I |
possibly damaging |
Het |
Tbx6 |
G |
A |
7: 126,384,025 (GRCm39) |
A359T |
possibly damaging |
Het |
Thra |
G |
A |
11: 98,654,514 (GRCm39) |
V295I |
possibly damaging |
Het |
Tnr |
T |
C |
1: 159,740,336 (GRCm39) |
M1170T |
probably damaging |
Het |
Tpcn2 |
T |
A |
7: 144,832,521 (GRCm39) |
I112F |
probably damaging |
Het |
Trdv2-2 |
T |
C |
14: 54,198,998 (GRCm39) |
L96P |
probably damaging |
Het |
Trim24 |
T |
A |
6: 37,935,504 (GRCm39) |
W832R |
probably damaging |
Het |
Usp4 |
T |
G |
9: 108,268,959 (GRCm39) |
S891A |
probably benign |
Het |
Vmn1r88 |
A |
T |
7: 12,912,440 (GRCm39) |
R265S |
probably benign |
Het |
Wdr74 |
T |
C |
19: 8,717,197 (GRCm39) |
C220R |
possibly damaging |
Het |
Xpo1 |
A |
T |
11: 23,218,653 (GRCm39) |
|
probably benign |
Het |
Xpo1 |
A |
T |
11: 23,218,656 (GRCm39) |
|
probably benign |
Het |
Zfp850 |
C |
A |
7: 27,689,620 (GRCm39) |
G196V |
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 |
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 |
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'- TCTGCAAAGATGATTGGACTCC -3'
(R):5'- GCACAACTCAGGCTTCAGAG -3'
Sequencing Primer
(F):5'- AGATGATTGGACTCCATGAAGTG -3'
(R):5'- CAACTCAGGCTTCAGAGTGACTG -3'
|
Posted On |
2017-02-28 |