Incidental Mutation 'R3944:Vmn2r58'
| ID |
307593 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r58
|
| Ensembl Gene |
ENSMUSG00000090383 |
| Gene Name |
vomeronasal 2, receptor 58 |
| Synonyms |
EG628422 |
| MMRRC Submission |
040925-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.377)
|
| Stock # |
R3944 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
41486305-41522094 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 41513885 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 253
(F253I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126966
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000171671]
|
| AlphaFold |
K7N6V2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171671
AA Change: F253I
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000126966
Gene: ENSMUSG00000090383
AA Change: F253I
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
100% (61/61) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| 6430548M08Rik |
T |
C |
8: 120,879,241 (GRCm39) |
L213P |
probably damaging |
Het |
| Akap12 |
A |
G |
10: 4,307,347 (GRCm39) |
K1491E |
probably benign |
Het |
| Akr1c12 |
T |
A |
13: 4,329,339 (GRCm39) |
H6L |
probably benign |
Het |
| Ankrd50 |
C |
T |
3: 38,506,645 (GRCm39) |
C251Y |
probably benign |
Het |
| Bltp1 |
A |
G |
3: 37,084,210 (GRCm39) |
I3876V |
possibly damaging |
Het |
| Bltp2 |
T |
A |
11: 78,160,350 (GRCm39) |
L603* |
probably null |
Het |
| Calu |
T |
C |
6: 29,361,710 (GRCm39) |
S125P |
possibly damaging |
Het |
| Cdh10 |
A |
G |
15: 18,964,335 (GRCm39) |
T166A |
probably benign |
Het |
| Clip1 |
T |
C |
5: 123,755,892 (GRCm39) |
|
probably benign |
Het |
| Cntn4 |
T |
G |
6: 106,595,375 (GRCm39) |
N497K |
probably benign |
Het |
| Cspg4 |
T |
A |
9: 56,793,407 (GRCm39) |
C381S |
probably damaging |
Het |
| Cyp1a2 |
T |
C |
9: 57,589,151 (GRCm39) |
N221S |
probably benign |
Het |
| Dnaaf5 |
C |
T |
5: 139,138,679 (GRCm39) |
|
probably benign |
Het |
| Dnah7b |
A |
G |
1: 46,176,645 (GRCm39) |
D755G |
probably damaging |
Het |
| Dscam |
A |
T |
16: 96,622,197 (GRCm39) |
V418E |
probably damaging |
Het |
| Eefsec |
T |
A |
6: 88,275,076 (GRCm39) |
H296L |
probably benign |
Het |
| Elmo3 |
T |
C |
8: 106,035,852 (GRCm39) |
|
probably null |
Het |
| Gcm1 |
C |
T |
9: 77,967,098 (GRCm39) |
Q106* |
probably null |
Het |
| Gnl1 |
G |
T |
17: 36,299,413 (GRCm39) |
G528V |
probably benign |
Het |
| Gpat4 |
G |
A |
8: 23,670,171 (GRCm39) |
P286L |
probably damaging |
Het |
| H2-T23 |
A |
G |
17: 36,341,535 (GRCm39) |
V312A |
probably benign |
Het |
| Hectd4 |
C |
A |
5: 121,441,588 (GRCm39) |
|
probably benign |
Het |
| Hoxa7 |
T |
A |
6: 52,193,606 (GRCm39) |
|
probably benign |
Het |
| Ifnlr1 |
T |
A |
4: 135,428,539 (GRCm39) |
V122E |
probably damaging |
Het |
| Kcnt2 |
T |
C |
1: 140,512,025 (GRCm39) |
M1036T |
probably damaging |
Het |
| Khdc1b |
G |
T |
1: 21,455,030 (GRCm39) |
K96N |
probably damaging |
Het |
| Kif19a |
A |
T |
11: 114,677,561 (GRCm39) |
Y578F |
probably benign |
Het |
| Krt4 |
G |
A |
15: 101,829,685 (GRCm39) |
T281M |
probably benign |
Het |
| Lyl1 |
A |
C |
8: 85,430,631 (GRCm39) |
T178P |
probably damaging |
Het |
| Marchf6 |
A |
G |
15: 31,488,960 (GRCm39) |
V317A |
probably benign |
Het |
| Mmp1b |
G |
A |
9: 7,384,708 (GRCm39) |
T280I |
possibly damaging |
Het |
| Mpi |
T |
C |
9: 57,452,536 (GRCm39) |
D332G |
probably damaging |
Het |
| Naip6 |
T |
C |
13: 100,431,247 (GRCm39) |
T1197A |
probably benign |
Het |
| Ntng2 |
G |
A |
2: 29,094,289 (GRCm39) |
L361F |
probably benign |
Het |
| Obscn |
A |
T |
11: 59,023,373 (GRCm39) |
I668N |
probably damaging |
Het |
| Or52x1 |
A |
T |
7: 104,853,162 (GRCm39) |
C129* |
probably null |
Het |
| Or8k40 |
A |
G |
2: 86,584,525 (GRCm39) |
S186P |
probably benign |
Het |
| Pabpc1l |
A |
G |
2: 163,884,247 (GRCm39) |
E328G |
probably damaging |
Het |
| Pan3 |
A |
T |
5: 147,387,540 (GRCm39) |
N170Y |
probably damaging |
Het |
| Prdm2 |
C |
T |
4: 142,858,385 (GRCm39) |
R1635Q |
possibly damaging |
Het |
| Rassf6 |
G |
T |
5: 90,752,185 (GRCm39) |
Q258K |
possibly damaging |
Het |
| Ribc2 |
A |
G |
15: 85,019,451 (GRCm39) |
M78V |
probably benign |
Het |
| Rp9 |
A |
C |
9: 22,361,154 (GRCm39) |
H44Q |
probably damaging |
Het |
| Skint5 |
T |
A |
4: 113,799,950 (GRCm39) |
H73L |
probably damaging |
Het |
| Slc6a12 |
A |
T |
6: 121,331,239 (GRCm39) |
|
probably null |
Het |
| Smg6 |
G |
A |
11: 74,820,367 (GRCm39) |
G213R |
probably damaging |
Het |
| Spout1 |
A |
G |
2: 30,064,148 (GRCm39) |
V372A |
probably benign |
Het |
| Svep1 |
T |
A |
4: 58,084,807 (GRCm39) |
|
probably null |
Het |
| Tab1 |
T |
C |
15: 80,037,941 (GRCm39) |
L258P |
probably damaging |
Het |
| Tbl3 |
A |
G |
17: 24,919,682 (GRCm39) |
S791P |
possibly damaging |
Het |
| Tcof1 |
C |
A |
18: 60,955,909 (GRCm39) |
D927Y |
probably damaging |
Het |
| Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
| Topaz1 |
T |
C |
9: 122,579,669 (GRCm39) |
S860P |
possibly damaging |
Het |
| Vill |
T |
C |
9: 118,897,499 (GRCm39) |
I258T |
probably benign |
Het |
| Vmn1r204 |
G |
A |
13: 22,741,014 (GRCm39) |
R215H |
probably benign |
Het |
| Vmn2r106 |
A |
T |
17: 20,487,913 (GRCm39) |
F829I |
probably damaging |
Het |
| Vmn2r14 |
A |
T |
5: 109,363,930 (GRCm39) |
I662N |
probably damaging |
Het |
| Vps8 |
A |
T |
16: 21,288,873 (GRCm39) |
N411Y |
probably damaging |
Het |
| Zfp932 |
T |
A |
5: 110,157,820 (GRCm39) |
V506E |
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 |
|
R0141:Vmn2r58
|
UTSW |
7 |
41,511,309 (GRCm39) |
missense |
probably benign |
0.11 |
|
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 |
|
|
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'- TGGGTATCAACATCCCATGAAG -3'
(R):5'- TTCTATCTTGAATGACCGAGGTC -3'
Sequencing Primer
(F):5'- GGTATCAACATCCCATGAAGAGCTC -3'
(R):5'- AAGGACACATCTCTGTCGCTTG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation