Incidental Mutation 'R0306:Vmn2r118'
ID |
35825 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r118
|
Ensembl Gene |
ENSMUSG00000091504 |
Gene Name |
vomeronasal 2, receptor 118 |
Synonyms |
Vmn2r119, EG668547, EG383258 |
MMRRC Submission |
038517-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.128)
|
Stock # |
R0306 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
55899341-55931672 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 55915616 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Valine
at position 445
(F445V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131128
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168440]
|
AlphaFold |
E9Q1C1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000168440
AA Change: F445V
PolyPhen 2
Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000131128 Gene: ENSMUSG00000091504 AA Change: F445V
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 |
0.1795 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.2%
|
Validation Efficiency |
94% (61/65) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aoc1l1 |
T |
C |
6: 48,953,020 (GRCm39) |
V315A |
probably damaging |
Het |
BC028528 |
C |
T |
3: 95,797,132 (GRCm39) |
|
probably benign |
Het |
Bspry |
T |
C |
4: 62,414,394 (GRCm39) |
F329S |
probably damaging |
Het |
Cd209a |
A |
G |
8: 3,795,535 (GRCm39) |
Y120H |
probably benign |
Het |
Ces1f |
T |
C |
8: 94,003,172 (GRCm39) |
|
probably benign |
Het |
Cfap52 |
T |
C |
11: 67,844,896 (GRCm39) |
N58D |
probably benign |
Het |
Cfap74 |
G |
A |
4: 155,549,896 (GRCm39) |
|
probably benign |
Het |
Chst8 |
T |
C |
7: 34,374,723 (GRCm39) |
E372G |
probably benign |
Het |
Cplane1 |
T |
C |
15: 8,209,373 (GRCm39) |
V270A |
probably damaging |
Het |
Ddx49 |
A |
G |
8: 70,747,322 (GRCm39) |
|
probably benign |
Het |
Ddx52 |
G |
T |
11: 83,835,474 (GRCm39) |
L133F |
probably benign |
Het |
Defb26 |
T |
A |
2: 152,349,888 (GRCm39) |
I131F |
unknown |
Het |
Dip2c |
T |
A |
13: 9,654,635 (GRCm39) |
S719T |
probably benign |
Het |
Dnmt3a |
A |
G |
12: 3,916,096 (GRCm39) |
S94G |
possibly damaging |
Het |
Dytn |
G |
A |
1: 63,724,272 (GRCm39) |
P3S |
possibly damaging |
Het |
Fmn2 |
T |
C |
1: 174,437,050 (GRCm39) |
|
probably benign |
Het |
Gal3st1 |
T |
A |
11: 3,948,546 (GRCm39) |
L251Q |
probably damaging |
Het |
Gm19684 |
A |
T |
17: 36,438,300 (GRCm39) |
|
probably benign |
Het |
Il15 |
T |
A |
8: 83,061,083 (GRCm39) |
|
probably benign |
Het |
Jag1 |
C |
T |
2: 136,927,855 (GRCm39) |
G852D |
probably damaging |
Het |
Kbtbd4 |
A |
G |
2: 90,744,530 (GRCm39) |
|
probably benign |
Het |
Kdm3b |
C |
A |
18: 34,937,070 (GRCm39) |
Q451K |
probably benign |
Het |
Lrfn2 |
A |
T |
17: 49,403,283 (GRCm39) |
I469F |
probably damaging |
Het |
Mep1a |
A |
T |
17: 43,813,534 (GRCm39) |
|
probably benign |
Het |
Morn5 |
T |
C |
2: 35,944,986 (GRCm39) |
F70S |
probably damaging |
Het |
Nav2 |
C |
A |
7: 49,195,651 (GRCm39) |
P1009Q |
probably benign |
Het |
Noc3l |
T |
C |
19: 38,796,094 (GRCm39) |
Y334C |
probably damaging |
Het |
Nsun4 |
A |
T |
4: 115,910,019 (GRCm39) |
Y180* |
probably null |
Het |
Nup210l |
T |
C |
3: 90,114,675 (GRCm39) |
I1750T |
probably benign |
Het |
Or51s1 |
A |
T |
7: 102,559,010 (GRCm39) |
I12N |
probably benign |
Het |
Or5p53 |
A |
T |
7: 107,532,907 (GRCm39) |
Y60F |
probably damaging |
Het |
Or8u9 |
T |
A |
2: 86,002,060 (GRCm39) |
I34F |
possibly damaging |
Het |
Parp14 |
A |
G |
16: 35,676,944 (GRCm39) |
L1008P |
probably benign |
Het |
Paxbp1 |
A |
G |
16: 90,819,003 (GRCm39) |
V759A |
possibly damaging |
Het |
Prdm10 |
C |
A |
9: 31,227,520 (GRCm39) |
Q42K |
probably damaging |
Het |
Prkcsh |
T |
C |
9: 21,917,822 (GRCm39) |
|
probably benign |
Het |
Psmg1 |
A |
G |
16: 95,788,540 (GRCm39) |
C138R |
probably damaging |
Het |
Ptprb |
T |
C |
10: 116,179,893 (GRCm39) |
M1437T |
probably benign |
Het |
Ryr3 |
A |
G |
2: 112,606,000 (GRCm39) |
|
probably null |
Het |
Serpinf1 |
T |
C |
11: 75,304,761 (GRCm39) |
Y200C |
probably damaging |
Het |
Shox2 |
T |
C |
3: 66,881,167 (GRCm39) |
H130R |
probably damaging |
Het |
Slc22a1 |
A |
G |
17: 12,881,485 (GRCm39) |
F335L |
probably benign |
Het |
Slc44a5 |
A |
G |
3: 153,975,638 (GRCm39) |
N683S |
probably damaging |
Het |
Slc9a9 |
A |
T |
9: 95,019,987 (GRCm39) |
T519S |
probably benign |
Het |
Smarca2 |
T |
A |
19: 26,618,013 (GRCm39) |
L348Q |
probably damaging |
Het |
Sorbs1 |
T |
C |
19: 40,332,855 (GRCm39) |
D521G |
possibly damaging |
Het |
Sorbs2 |
A |
T |
8: 46,248,767 (GRCm39) |
T593S |
probably benign |
Het |
Srp19 |
T |
C |
18: 34,467,629 (GRCm39) |
|
probably benign |
Het |
Stk35 |
T |
A |
2: 129,643,683 (GRCm39) |
Y222* |
probably null |
Het |
Syt10 |
T |
G |
15: 89,711,191 (GRCm39) |
K114T |
probably benign |
Het |
Tcam1 |
G |
A |
11: 106,174,904 (GRCm39) |
E120K |
probably benign |
Het |
Trpc4ap |
A |
G |
2: 155,478,180 (GRCm39) |
V662A |
probably benign |
Het |
Ttll4 |
G |
A |
1: 74,735,916 (GRCm39) |
R1066Q |
probably benign |
Het |
Tulp2 |
C |
T |
7: 45,168,000 (GRCm39) |
|
probably benign |
Het |
Unc5b |
C |
A |
10: 60,615,437 (GRCm39) |
|
probably benign |
Het |
Vmn1r230 |
T |
A |
17: 21,066,895 (GRCm39) |
I28K |
possibly damaging |
Het |
Zfp142 |
C |
T |
1: 74,609,341 (GRCm39) |
E1485K |
probably damaging |
Het |
Zfp819 |
C |
A |
7: 43,266,621 (GRCm39) |
A292E |
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 |
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 |
|
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'- CACAGCTCACACTGCATACAGAAGG -3'
(R):5'- cacagctcAGCATGTAAAAGAAGGCTAA -3'
Sequencing Primer
(F):5'- AGGCCCATTGGATCATGTC -3'
(R):5'- GGCTAATTTGATCTACTCTTATCTCC -3'
|
Posted On |
2013-05-09 |