Incidental Mutation 'R0141:Vmn2r58'
| ID |
22317 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r58
|
| Ensembl Gene |
ENSMUSG00000090383 |
| Gene Name |
vomeronasal 2, receptor 58 |
| Synonyms |
EG628422 |
| MMRRC Submission |
038426-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.377)
|
| Stock # |
R0141 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
7 |
| Chromosomal Location |
41486305-41522094 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 41511309 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Phenylalanine
at position 498
(S498F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126966
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000171671]
|
| AlphaFold |
K7N6V2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171671
AA Change: S498F
PolyPhen 2
Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000126966
Gene: ENSMUSG00000090383
AA Change: S498F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
77 |
471 |
8e-43 |
PFAM |
|
Pfam:NCD3G
|
514 |
567 |
1.8e-23 |
PFAM |
|
Pfam:7tm_3
|
597 |
835 |
2.9e-52 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.5%
- 20x: 89.9%
|
| Validation Efficiency |
88% (50/57) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot12 |
A |
C |
13: 91,919,947 (GRCm39) |
D294A |
probably benign |
Het |
| Adamts9 |
T |
C |
6: 92,920,066 (GRCm39) |
D24G |
probably benign |
Het |
| Ahnak |
G |
A |
19: 8,984,044 (GRCm39) |
G1776D |
probably damaging |
Het |
| Arfgef3 |
C |
A |
10: 18,473,155 (GRCm39) |
C1636F |
probably damaging |
Het |
| AW551984 |
A |
G |
9: 39,501,940 (GRCm39) |
L722P |
probably damaging |
Het |
| Ccndbp1 |
T |
A |
2: 120,842,903 (GRCm39) |
M188K |
probably damaging |
Het |
| Col27a1 |
A |
T |
4: 63,183,870 (GRCm39) |
|
probably null |
Het |
| Cpt1c |
A |
G |
7: 44,616,095 (GRCm39) |
Y306H |
probably damaging |
Het |
| Cyp3a57 |
A |
G |
5: 145,298,912 (GRCm39) |
I71V |
probably benign |
Het |
| Def8 |
G |
A |
8: 124,183,234 (GRCm39) |
A278T |
probably damaging |
Het |
| Dmrt2 |
A |
T |
19: 25,655,655 (GRCm39) |
Q418L |
possibly damaging |
Het |
| Ebf1 |
T |
C |
11: 44,798,827 (GRCm39) |
L284S |
probably damaging |
Het |
| Fam131a |
G |
A |
16: 20,517,738 (GRCm39) |
A15T |
probably benign |
Het |
| Fbxo17 |
A |
G |
7: 28,432,916 (GRCm39) |
T146A |
possibly damaging |
Het |
| Fer1l6 |
A |
G |
15: 58,430,251 (GRCm39) |
E226G |
probably damaging |
Het |
| Galnt18 |
A |
T |
7: 111,198,238 (GRCm39) |
I174N |
probably damaging |
Het |
| Gm44501 |
T |
C |
17: 40,889,744 (GRCm39) |
I86T |
probably benign |
Het |
| Gtsf1l |
T |
C |
2: 162,929,246 (GRCm39) |
Q79R |
probably benign |
Het |
| Hapln4 |
T |
C |
8: 70,540,930 (GRCm39) |
L321P |
probably damaging |
Het |
| Herc2 |
A |
G |
7: 55,771,309 (GRCm39) |
T1024A |
probably benign |
Het |
| Hps5 |
A |
G |
7: 46,438,605 (GRCm39) |
S43P |
probably damaging |
Het |
| Igsf10 |
A |
G |
3: 59,238,253 (GRCm39) |
Y643H |
probably damaging |
Het |
| Lama4 |
G |
A |
10: 38,968,274 (GRCm39) |
R1472H |
probably benign |
Het |
| Lhx9 |
A |
G |
1: 138,767,744 (GRCm39) |
Y73H |
possibly damaging |
Het |
| Loxl1 |
T |
A |
9: 58,219,415 (GRCm39) |
Q252L |
probably damaging |
Het |
| Lrrc37 |
A |
C |
11: 103,504,512 (GRCm39) |
I2485M |
probably damaging |
Het |
| Nfat5 |
C |
T |
8: 108,065,707 (GRCm39) |
R156W |
probably damaging |
Het |
| Nr3c2 |
T |
A |
8: 77,635,037 (GRCm39) |
V46D |
probably damaging |
Het |
| Or11h4 |
T |
C |
14: 50,973,840 (GRCm39) |
S260G |
possibly damaging |
Het |
| Or4k77 |
T |
A |
2: 111,199,835 (GRCm39) |
I286N |
probably damaging |
Het |
| Or5i1 |
C |
G |
2: 87,613,049 (GRCm39) |
P55R |
possibly damaging |
Het |
| Or5p63 |
A |
C |
7: 107,811,210 (GRCm39) |
N175K |
possibly damaging |
Het |
| Or5p70 |
A |
T |
7: 107,994,575 (GRCm39) |
N83Y |
probably benign |
Het |
| Osbp |
T |
C |
19: 11,951,223 (GRCm39) |
V256A |
possibly damaging |
Het |
| Pclo |
A |
T |
5: 14,841,936 (GRCm39) |
D4737V |
unknown |
Het |
| Pkdrej |
A |
G |
15: 85,699,831 (GRCm39) |
I2035T |
probably damaging |
Het |
| Plek2 |
A |
G |
12: 78,941,278 (GRCm39) |
S185P |
probably damaging |
Het |
| Pnpla6 |
G |
T |
8: 3,582,117 (GRCm39) |
|
probably null |
Het |
| Pou3f2 |
T |
C |
4: 22,487,210 (GRCm39) |
T308A |
possibly damaging |
Het |
| Pramel22 |
T |
C |
4: 143,381,138 (GRCm39) |
Y295C |
probably benign |
Het |
| Pxmp4 |
A |
G |
2: 154,434,215 (GRCm39) |
V82A |
probably damaging |
Het |
| Rnf6 |
A |
T |
5: 146,148,645 (GRCm39) |
N135K |
possibly damaging |
Het |
| Rtl1 |
A |
G |
12: 109,559,382 (GRCm39) |
V819A |
probably damaging |
Het |
| Scn1a |
C |
A |
2: 66,119,406 (GRCm39) |
V1355L |
probably damaging |
Het |
| Scn2a |
T |
A |
2: 65,542,160 (GRCm39) |
N754K |
probably benign |
Het |
| Serpina3b |
A |
T |
12: 104,097,030 (GRCm39) |
N104Y |
probably damaging |
Het |
| Sh3rf2 |
T |
C |
18: 42,289,122 (GRCm39) |
S648P |
probably benign |
Het |
| Slc17a6 |
G |
A |
7: 51,318,815 (GRCm39) |
V486I |
probably benign |
Het |
| Spata31e2 |
A |
T |
1: 26,722,863 (GRCm39) |
N772K |
probably benign |
Het |
| Syne2 |
T |
G |
12: 75,988,072 (GRCm39) |
D1743E |
probably damaging |
Het |
| Tex14 |
T |
G |
11: 87,383,857 (GRCm39) |
|
probably null |
Het |
| Tfb1m |
T |
C |
17: 3,605,232 (GRCm39) |
D87G |
probably damaging |
Het |
| Tll2 |
C |
T |
19: 41,086,351 (GRCm39) |
G609S |
probably damaging |
Het |
| Tsc22d2 |
A |
T |
3: 58,324,577 (GRCm39) |
|
probably benign |
Het |
| Tsen2 |
A |
G |
6: 115,545,790 (GRCm39) |
D360G |
probably damaging |
Het |
| Ugt2b37 |
G |
A |
5: 87,388,842 (GRCm39) |
P457L |
probably damaging |
Het |
| Vmn1r68 |
T |
C |
7: 10,261,252 (GRCm39) |
N282S |
possibly damaging |
Het |
| Zfp959 |
T |
C |
17: 56,205,139 (GRCm39) |
I392T |
probably benign |
Het |
|
| Other mutations in Vmn2r58 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00089:Vmn2r58
|
APN |
7 |
41,513,854 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL00924:Vmn2r58
|
APN |
7 |
41,486,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01291:Vmn2r58
|
APN |
7 |
41,513,935 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01480:Vmn2r58
|
APN |
7 |
41,514,116 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01551:Vmn2r58
|
APN |
7 |
41,514,703 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01591:Vmn2r58
|
APN |
7 |
41,514,753 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01940:Vmn2r58
|
APN |
7 |
41,487,071 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01994:Vmn2r58
|
APN |
7 |
41,486,394 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02041:Vmn2r58
|
APN |
7 |
41,514,703 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02222:Vmn2r58
|
APN |
7 |
41,513,449 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL02317:Vmn2r58
|
APN |
7 |
41,486,765 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02614:Vmn2r58
|
APN |
7 |
41,486,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02673:Vmn2r58
|
APN |
7 |
41,514,082 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL03323:Vmn2r58
|
APN |
7 |
41,511,295 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL03337:Vmn2r58
|
APN |
7 |
41,513,810 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL03380:Vmn2r58
|
APN |
7 |
41,513,874 (GRCm39) |
missense |
probably benign |
0.00 |
|
ANU05:Vmn2r58
|
UTSW |
7 |
41,513,935 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0138:Vmn2r58
|
UTSW |
7 |
41,487,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0421:Vmn2r58
|
UTSW |
7 |
41,514,628 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0604:Vmn2r58
|
UTSW |
7 |
41,510,000 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R0854:Vmn2r58
|
UTSW |
7 |
41,486,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1413:Vmn2r58
|
UTSW |
7 |
41,513,387 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1441:Vmn2r58
|
UTSW |
7 |
41,486,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1678:Vmn2r58
|
UTSW |
7 |
41,513,480 (GRCm39) |
missense |
probably benign |
0.40 |
|
R1691:Vmn2r58
|
UTSW |
7 |
41,486,913 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1699:Vmn2r58
|
UTSW |
7 |
41,509,951 (GRCm39) |
missense |
probably benign |
|
|
R1865:Vmn2r58
|
UTSW |
7 |
41,486,682 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2008:Vmn2r58
|
UTSW |
7 |
41,509,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2036:Vmn2r58
|
UTSW |
7 |
41,513,417 (GRCm39) |
missense |
probably benign |
|
|
R2202:Vmn2r58
|
UTSW |
7 |
41,513,594 (GRCm39) |
missense |
probably benign |
0.07 |
|
R3787:Vmn2r58
|
UTSW |
7 |
41,513,498 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3883:Vmn2r58
|
UTSW |
7 |
41,513,914 (GRCm39) |
nonsense |
probably null |
|
|
R3944:Vmn2r58
|
UTSW |
7 |
41,513,885 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3949:Vmn2r58
|
UTSW |
7 |
41,513,348 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4232:Vmn2r58
|
UTSW |
7 |
41,487,011 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4409:Vmn2r58
|
UTSW |
7 |
41,522,051 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R4411:Vmn2r58
|
UTSW |
7 |
41,511,360 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4413:Vmn2r58
|
UTSW |
7 |
41,511,360 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4600:Vmn2r58
|
UTSW |
7 |
41,522,046 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4610:Vmn2r58
|
UTSW |
7 |
41,487,117 (GRCm39) |
missense |
probably benign |
|
|
R4646:Vmn2r58
|
UTSW |
7 |
41,509,935 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4793:Vmn2r58
|
UTSW |
7 |
41,514,495 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4870:Vmn2r58
|
UTSW |
7 |
41,486,639 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R4981:Vmn2r58
|
UTSW |
7 |
41,486,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4993:Vmn2r58
|
UTSW |
7 |
41,487,176 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5024:Vmn2r58
|
UTSW |
7 |
41,513,746 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5064:Vmn2r58
|
UTSW |
7 |
41,486,534 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5330:Vmn2r58
|
UTSW |
7 |
41,513,384 (GRCm39) |
nonsense |
probably null |
|
|
R5526:Vmn2r58
|
UTSW |
7 |
41,522,069 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5980:Vmn2r58
|
UTSW |
7 |
41,514,480 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6163:Vmn2r58
|
UTSW |
7 |
41,486,825 (GRCm39) |
missense |
probably benign |
0.31 |
|
R6365:Vmn2r58
|
UTSW |
7 |
41,513,607 (GRCm39) |
missense |
probably benign |
0.42 |
|
R6567:Vmn2r58
|
UTSW |
7 |
41,514,673 (GRCm39) |
missense |
probably benign |
0.34 |
|
R6594:Vmn2r58
|
UTSW |
7 |
41,486,535 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6980:Vmn2r58
|
UTSW |
7 |
41,513,662 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R7373:Vmn2r58
|
UTSW |
7 |
41,487,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7458:Vmn2r58
|
UTSW |
7 |
41,487,123 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7630:Vmn2r58
|
UTSW |
7 |
41,513,611 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7807:Vmn2r58
|
UTSW |
7 |
41,521,910 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8114:Vmn2r58
|
UTSW |
7 |
41,511,392 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8232:Vmn2r58
|
UTSW |
7 |
41,514,076 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8313:Vmn2r58
|
UTSW |
7 |
41,521,952 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8412:Vmn2r58
|
UTSW |
7 |
41,513,722 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8530:Vmn2r58
|
UTSW |
7 |
41,513,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8851:Vmn2r58
|
UTSW |
7 |
41,487,219 (GRCm39) |
missense |
probably benign |
|
|
R8881:Vmn2r58
|
UTSW |
7 |
41,486,609 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8936:Vmn2r58
|
UTSW |
7 |
41,513,981 (GRCm39) |
missense |
|
|
|
R9045:Vmn2r58
|
UTSW |
7 |
41,487,087 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9166:Vmn2r58
|
UTSW |
7 |
41,513,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9706:Vmn2r58
|
UTSW |
7 |
41,510,000 (GRCm39) |
missense |
probably damaging |
0.99 |
|
RF006:Vmn2r58
|
UTSW |
7 |
41,486,383 (GRCm39) |
frame shift |
probably null |
|
|
RF027:Vmn2r58
|
UTSW |
7 |
41,486,383 (GRCm39) |
frame shift |
probably null |
|
|
Z1176:Vmn2r58
|
UTSW |
7 |
41,513,789 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAAATGCCGCCTTACCTTCCTGTAAT -3'
(R):5'- GCTTCACCCTTTCCTAAAGAACACGAT -3'
Sequencing Primer
(F):5'- GGCAGCAAATATTAGACAGTCTC -3'
(R):5'- CCTTTCCTAAAGAACACGATAATGAG -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation