Incidental Mutation 'R6513:Vmn2r118'
ID |
520035 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r118
|
Ensembl Gene |
ENSMUSG00000091504 |
Gene Name |
vomeronasal 2, receptor 118 |
Synonyms |
Vmn2r119, EG668547, EG383258 |
MMRRC Submission |
044640-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.128)
|
Stock # |
R6513 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
55899341-55931672 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 55915093 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Cysteine
at position 518
(S518C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131128
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168440]
|
AlphaFold |
E9Q1C1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000168440
AA Change: S518C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000131128 Gene: ENSMUSG00000091504 AA Change: S518C
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 |
0.6329 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.4%
|
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 |
4932438H23Rik |
T |
C |
16: 90,852,654 (GRCm39) |
S161G |
probably benign |
Het |
Ankfy1 |
G |
A |
11: 72,621,308 (GRCm39) |
R198Q |
possibly damaging |
Het |
Ankrd11 |
A |
G |
8: 123,616,919 (GRCm39) |
V2290A |
probably benign |
Het |
Aox4 |
A |
G |
1: 58,252,212 (GRCm39) |
N29S |
probably benign |
Het |
Arhgap17 |
T |
C |
7: 122,891,379 (GRCm39) |
R592G |
possibly damaging |
Het |
Caap1 |
A |
T |
4: 94,389,640 (GRCm39) |
D231E |
possibly damaging |
Het |
Cabp1 |
T |
A |
5: 115,307,193 (GRCm39) |
M165L |
possibly damaging |
Het |
Calhm4 |
T |
A |
10: 33,917,630 (GRCm39) |
R274* |
probably null |
Het |
Cep72 |
A |
T |
13: 74,206,582 (GRCm39) |
L73H |
probably damaging |
Het |
Cfap74 |
A |
G |
4: 155,525,743 (GRCm39) |
S731G |
probably null |
Het |
Dsc2 |
T |
C |
18: 20,179,295 (GRCm39) |
I258V |
probably benign |
Het |
Dsg1c |
T |
G |
18: 20,407,687 (GRCm39) |
N344K |
probably benign |
Het |
Enah |
A |
G |
1: 181,841,920 (GRCm39) |
|
probably benign |
Het |
Fbn1 |
T |
A |
2: 125,225,591 (GRCm39) |
S554C |
probably damaging |
Het |
Fkrp |
C |
A |
7: 16,545,037 (GRCm39) |
R275L |
possibly damaging |
Het |
Gbp4 |
C |
T |
5: 105,270,986 (GRCm39) |
G215D |
possibly damaging |
Het |
Gli2 |
G |
A |
1: 118,783,284 (GRCm39) |
L239F |
probably damaging |
Het |
Gpr146 |
A |
G |
5: 139,378,573 (GRCm39) |
D125G |
probably damaging |
Het |
Hectd4 |
C |
A |
5: 121,494,259 (GRCm39) |
|
probably null |
Het |
Invs |
G |
A |
4: 48,397,534 (GRCm39) |
V370I |
possibly damaging |
Het |
Kdm2b |
A |
G |
5: 123,018,302 (GRCm39) |
V1040A |
probably damaging |
Het |
Kidins220 |
T |
A |
12: 25,088,434 (GRCm39) |
V1059D |
possibly damaging |
Het |
Kif26a |
T |
A |
12: 112,141,926 (GRCm39) |
S727T |
probably damaging |
Het |
Kifbp |
T |
C |
10: 62,410,813 (GRCm39) |
|
probably null |
Het |
Klk1b27 |
A |
G |
7: 43,705,169 (GRCm39) |
H112R |
probably benign |
Het |
Krt72 |
T |
G |
15: 101,685,187 (GRCm39) |
|
probably null |
Het |
Lactb |
C |
T |
9: 66,878,172 (GRCm39) |
R219H |
probably damaging |
Het |
Lrig2 |
A |
T |
3: 104,373,045 (GRCm39) |
I612N |
probably damaging |
Het |
Meaf6 |
A |
C |
4: 124,983,697 (GRCm39) |
N51T |
probably damaging |
Het |
Mtap |
A |
G |
4: 89,066,498 (GRCm39) |
T36A |
possibly damaging |
Het |
Myo3a |
G |
A |
2: 22,412,143 (GRCm39) |
G713S |
probably damaging |
Het |
Nr4a3 |
C |
T |
4: 48,083,255 (GRCm39) |
T596I |
probably damaging |
Het |
Or10ak14 |
A |
T |
4: 118,611,224 (GRCm39) |
C172* |
probably null |
Het |
Or4f14 |
C |
G |
2: 111,743,228 (GRCm39) |
G16R |
possibly damaging |
Het |
Pam |
A |
G |
1: 97,765,752 (GRCm39) |
V759A |
possibly damaging |
Het |
Pcare |
T |
A |
17: 72,051,701 (GRCm39) |
E1217V |
probably damaging |
Het |
Pds5a |
T |
A |
5: 65,772,944 (GRCm39) |
I1220F |
probably benign |
Het |
Phldb2 |
T |
A |
16: 45,568,240 (GRCm39) |
M1222L |
possibly damaging |
Het |
Phospho1 |
C |
T |
11: 95,721,513 (GRCm39) |
A61V |
possibly damaging |
Het |
Pnpla7 |
G |
A |
2: 24,906,550 (GRCm39) |
V638I |
possibly damaging |
Het |
Pramel34 |
C |
A |
5: 93,785,391 (GRCm39) |
|
probably null |
Het |
Ptf1a |
T |
A |
2: 19,451,848 (GRCm39) |
D282E |
probably damaging |
Het |
Ptgs2 |
A |
T |
1: 149,975,879 (GRCm39) |
|
probably benign |
Het |
Racgap1 |
T |
C |
15: 99,522,156 (GRCm39) |
R471G |
probably damaging |
Het |
Rptn |
T |
C |
3: 93,303,419 (GRCm39) |
S251P |
possibly damaging |
Het |
Shcbp1 |
T |
C |
8: 4,794,507 (GRCm39) |
M429V |
probably benign |
Het |
Shprh |
T |
C |
10: 11,062,637 (GRCm39) |
L1248P |
probably damaging |
Het |
Son |
T |
C |
16: 91,456,835 (GRCm39) |
|
probably benign |
Het |
Sppl3 |
T |
C |
5: 115,233,995 (GRCm39) |
L355P |
probably damaging |
Het |
Tbc1d31 |
A |
T |
15: 57,818,778 (GRCm39) |
R794W |
probably damaging |
Het |
Telo2 |
T |
C |
17: 25,320,386 (GRCm39) |
Y766C |
probably damaging |
Het |
Tfr2 |
A |
G |
5: 137,572,793 (GRCm39) |
|
probably null |
Het |
Tle4 |
T |
C |
19: 14,429,056 (GRCm39) |
D722G |
probably damaging |
Het |
Tprg1l |
A |
G |
4: 154,243,862 (GRCm39) |
V98A |
probably benign |
Het |
Trak1 |
C |
T |
9: 121,272,822 (GRCm39) |
R237C |
probably benign |
Het |
Vmn2r113 |
T |
C |
17: 23,177,715 (GRCm39) |
I833T |
probably damaging |
Het |
Vmn2r49 |
A |
G |
7: 9,710,524 (GRCm39) |
I736T |
probably damaging |
Het |
Wdr38 |
T |
A |
2: 38,889,970 (GRCm39) |
|
probably null |
Het |
Wee2 |
A |
G |
6: 40,429,553 (GRCm39) |
E180G |
probably benign |
Het |
Zbtb1 |
T |
C |
12: 76,432,604 (GRCm39) |
S197P |
possibly damaging |
Het |
Zc3h7a |
T |
C |
16: 10,976,629 (GRCm39) |
|
probably null |
Het |
Zfp516 |
T |
A |
18: 82,973,835 (GRCm39) |
L11Q |
probably damaging |
Het |
Zfp623 |
G |
A |
15: 75,819,317 (GRCm39) |
R91H |
probably benign |
Het |
Zkscan7 |
G |
A |
9: 122,725,170 (GRCm39) |
R713Q |
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 |
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 |
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'- ATTTACCTTCCAGTTACTTTCAAGG -3'
(R):5'- CCAGGTGAGTTTGGCCCAAC -3'
Sequencing Primer
(F):5'- TCAAGGTCTTGATGTGGAGGAAG -3'
(R):5'- CAGGTGAGTTTGGCCCAACTTAATG -3'
|
Posted On |
2018-06-06 |