Incidental Mutation 'R4439:Vmn1r60'
| ID |
329673 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r60
|
| Ensembl Gene |
ENSMUSG00000090794 |
| Gene Name |
vomeronasal 1 receptor 60 |
| Synonyms |
Gm7184 |
| MMRRC Submission |
041704-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R4439 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
5547196-5548098 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 5547488 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 204
(H204L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133943
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000173782]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000172111
AA Change: H204L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133113
Gene: ENSMUSG00000090794
AA Change: H204L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TAS2R
|
1 |
294 |
1.1e-10 |
PFAM |
|
Pfam:7tm_1
|
20 |
280 |
7.3e-12 |
PFAM |
|
Pfam:V1R
|
31 |
299 |
1.3e-18 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000173782
AA Change: H204L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133943
Gene: ENSMUSG00000090794
AA Change: H204L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TAS2R
|
8 |
304 |
4.7e-10 |
PFAM |
|
Pfam:7tm_1
|
30 |
289 |
7.2e-6 |
PFAM |
|
Pfam:V1R
|
41 |
309 |
1.8e-17 |
PFAM |
|
| Meta Mutation Damage Score |
0.7063 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
94% (50/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
C |
T |
5: 114,384,557 (GRCm39) |
T2237I |
possibly damaging |
Het |
| Adgre1 |
T |
A |
17: 57,754,954 (GRCm39) |
L684Q |
probably damaging |
Het |
| Cfap157 |
T |
A |
2: 32,667,877 (GRCm39) |
Y488F |
probably benign |
Het |
| D630045J12Rik |
A |
G |
6: 38,171,696 (GRCm39) |
I824T |
probably benign |
Het |
| Eno2 |
T |
C |
6: 124,739,922 (GRCm39) |
|
probably benign |
Het |
| Fam78b |
C |
A |
1: 166,906,491 (GRCm39) |
Q217K |
probably damaging |
Het |
| Fpgs |
C |
T |
2: 32,577,513 (GRCm39) |
C219Y |
probably damaging |
Het |
| Garem2 |
G |
T |
5: 30,318,344 (GRCm39) |
V106L |
possibly damaging |
Het |
| Grk3 |
A |
T |
5: 113,094,543 (GRCm39) |
|
probably null |
Het |
| H3c2 |
A |
T |
13: 23,936,708 (GRCm39) |
|
probably null |
Het |
| Hint2 |
T |
A |
4: 43,654,919 (GRCm39) |
Y70F |
probably damaging |
Het |
| Ipp |
A |
G |
4: 116,372,274 (GRCm39) |
N101S |
probably benign |
Het |
| Kcnj1 |
A |
T |
9: 32,305,414 (GRCm39) |
|
probably benign |
Het |
| Kcnk4 |
T |
C |
19: 6,910,129 (GRCm39) |
D44G |
probably benign |
Het |
| Kif5c |
T |
C |
2: 49,578,737 (GRCm39) |
S122P |
possibly damaging |
Het |
| Mideas |
C |
T |
12: 84,203,245 (GRCm39) |
G886S |
probably benign |
Het |
| Nipbl |
T |
A |
15: 8,368,208 (GRCm39) |
K1171N |
probably damaging |
Het |
| Or4k39 |
T |
A |
2: 111,239,653 (GRCm39) |
|
noncoding transcript |
Het |
| Pcf11 |
A |
C |
7: 92,307,225 (GRCm39) |
L981R |
probably damaging |
Het |
| Pias2 |
T |
A |
18: 77,185,399 (GRCm39) |
L153H |
probably damaging |
Het |
| Pjvk |
T |
C |
2: 76,481,750 (GRCm39) |
S68P |
probably damaging |
Het |
| Pkd1 |
T |
C |
17: 24,804,666 (GRCm39) |
V3130A |
probably damaging |
Het |
| Plpp4 |
C |
A |
7: 128,858,813 (GRCm39) |
|
probably benign |
Het |
| Plxnd1 |
T |
A |
6: 115,970,937 (GRCm39) |
H277L |
probably damaging |
Het |
| Pramel26 |
A |
T |
4: 143,538,143 (GRCm39) |
V276E |
possibly damaging |
Het |
| Rasgrf2 |
T |
C |
13: 92,131,797 (GRCm39) |
D620G |
possibly damaging |
Het |
| Rd3l |
C |
A |
12: 111,946,092 (GRCm39) |
S63I |
possibly damaging |
Het |
| Scfd2 |
G |
C |
5: 74,558,368 (GRCm39) |
A503G |
possibly damaging |
Het |
| Slco4a1 |
T |
C |
2: 180,114,455 (GRCm39) |
V549A |
probably benign |
Het |
| Tenm4 |
A |
G |
7: 96,545,022 (GRCm39) |
N2375S |
probably benign |
Het |
| Tespa1 |
C |
T |
10: 130,197,826 (GRCm39) |
R283C |
probably damaging |
Het |
| Tle2 |
A |
G |
10: 81,417,516 (GRCm39) |
E227G |
possibly damaging |
Het |
| Tnn |
T |
G |
1: 159,943,650 (GRCm39) |
E1054D |
probably benign |
Het |
| Tnrc6a |
A |
T |
7: 122,751,405 (GRCm39) |
K54* |
probably null |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Tpr |
T |
A |
1: 150,279,712 (GRCm39) |
D206E |
probably benign |
Het |
| Ugt2b34 |
A |
T |
5: 87,040,726 (GRCm39) |
F399I |
probably damaging |
Het |
| Usp3 |
A |
T |
9: 66,425,776 (GRCm39) |
D456E |
probably benign |
Het |
| Vmn2r97 |
G |
T |
17: 19,150,616 (GRCm39) |
A488S |
probably benign |
Het |
| Vrk3 |
C |
T |
7: 44,424,866 (GRCm39) |
T427M |
probably benign |
Het |
| Wdr86 |
T |
C |
5: 24,935,235 (GRCm39) |
D36G |
probably damaging |
Het |
| Zc3h4 |
C |
T |
7: 16,163,036 (GRCm39) |
P479S |
unknown |
Het |
| Zfhx4 |
A |
T |
3: 5,279,875 (GRCm39) |
|
probably benign |
Het |
| Zfp607b |
T |
A |
7: 27,402,149 (GRCm39) |
C202S |
probably damaging |
Het |
| Zfp882 |
T |
A |
8: 72,667,453 (GRCm39) |
F93L |
probably damaging |
Het |
|
| Other mutations in Vmn1r60 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01869:Vmn1r60
|
APN |
7 |
5,547,228 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01892:Vmn1r60
|
APN |
7 |
5,547,309 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02427:Vmn1r60
|
APN |
7 |
5,547,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03071:Vmn1r60
|
APN |
7 |
5,547,368 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0200:Vmn1r60
|
UTSW |
7 |
5,547,379 (GRCm39) |
missense |
probably benign |
|
|
R0457:Vmn1r60
|
UTSW |
7 |
5,548,118 (GRCm39) |
start gained |
probably benign |
|
|
R1175:Vmn1r60
|
UTSW |
7 |
5,547,621 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1199:Vmn1r60
|
UTSW |
7 |
5,547,971 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1529:Vmn1r60
|
UTSW |
7 |
5,547,902 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1859:Vmn1r60
|
UTSW |
7 |
5,547,549 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R2033:Vmn1r60
|
UTSW |
7 |
5,547,819 (GRCm39) |
missense |
probably benign |
|
|
R2405:Vmn1r60
|
UTSW |
7 |
5,547,912 (GRCm39) |
missense |
probably benign |
|
|
R3408:Vmn1r60
|
UTSW |
7 |
5,548,148 (GRCm39) |
splice site |
probably null |
|
|
R3771:Vmn1r60
|
UTSW |
7 |
5,547,710 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R3773:Vmn1r60
|
UTSW |
7 |
5,547,710 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R3852:Vmn1r60
|
UTSW |
7 |
5,548,026 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R4236:Vmn1r60
|
UTSW |
7 |
5,547,803 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4331:Vmn1r60
|
UTSW |
7 |
5,547,364 (GRCm39) |
nonsense |
probably null |
|
|
R5099:Vmn1r60
|
UTSW |
7 |
5,547,816 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5325:Vmn1r60
|
UTSW |
7 |
5,547,201 (GRCm39) |
missense |
probably benign |
|
|
R5415:Vmn1r60
|
UTSW |
7 |
5,547,416 (GRCm39) |
missense |
probably benign |
0.38 |
|
R5818:Vmn1r60
|
UTSW |
7 |
5,548,098 (GRCm39) |
start codon destroyed |
probably benign |
0.04 |
|
R6375:Vmn1r60
|
UTSW |
7 |
5,548,017 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6378:Vmn1r60
|
UTSW |
7 |
5,547,782 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6478:Vmn1r60
|
UTSW |
7 |
5,547,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6572:Vmn1r60
|
UTSW |
7 |
5,547,599 (GRCm39) |
missense |
probably benign |
0.40 |
|
R6586:Vmn1r60
|
UTSW |
7 |
5,547,446 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7061:Vmn1r60
|
UTSW |
7 |
5,547,310 (GRCm39) |
nonsense |
probably null |
|
|
R7506:Vmn1r60
|
UTSW |
7 |
5,547,861 (GRCm39) |
missense |
|
|
|
R7589:Vmn1r60
|
UTSW |
7 |
5,547,688 (GRCm39) |
missense |
|
|
|
R8182:Vmn1r60
|
UTSW |
7 |
5,547,876 (GRCm39) |
missense |
|
|
|
R9295:Vmn1r60
|
UTSW |
7 |
5,547,218 (GRCm39) |
missense |
probably null |
|
|
R9408:Vmn1r60
|
UTSW |
7 |
5,547,918 (GRCm39) |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGCACAGAACAATGACCC -3'
(R):5'- GTCAGTGGTCCACAGAAAACAC -3'
Sequencing Primer
(F):5'- GGAGATTTGTGACATACCTCATCCAG -3'
(R):5'- CACAATGACTCTGATTCTAAAGGC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation