Incidental Mutation 'R4345:Vmn1r72'
| ID |
324296 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r72
|
| Ensembl Gene |
ENSMUSG00000095430 |
| Gene Name |
vomeronasal 1 receptor 72 |
| Synonyms |
V1rg1 |
| MMRRC Submission |
041666-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
R4345 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
11403526-11404446 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 11403963 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 162
(T162S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154511
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053134]
[ENSMUST00000209638]
[ENSMUST00000227010]
|
| AlphaFold |
Q8K3N7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000053134
AA Change: T162S
PolyPhen 2
Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000052997
Gene: ENSMUSG00000095430
AA Change: T162S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TAS2R
|
1 |
305 |
1.8e-9 |
PFAM |
|
Pfam:V1R
|
25 |
300 |
6.7e-26 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000209638
AA Change: T162S
PolyPhen 2
Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000227010
AA Change: T162S
PolyPhen 2
Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.9%
|
| Validation Efficiency |
96% (47/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asap2 |
T |
C |
12: 21,280,832 (GRCm39) |
W449R |
probably damaging |
Het |
| Astn1 |
T |
A |
1: 158,329,602 (GRCm39) |
|
probably null |
Het |
| C3ar1 |
T |
C |
6: 122,827,659 (GRCm39) |
D186G |
probably damaging |
Het |
| Fbf1 |
A |
G |
11: 116,038,568 (GRCm39) |
V851A |
probably benign |
Het |
| Foxp4 |
G |
A |
17: 48,185,573 (GRCm39) |
T500M |
unknown |
Het |
| Gm5878 |
G |
A |
6: 85,102,633 (GRCm39) |
R31* |
probably null |
Het |
| Gramd4 |
T |
C |
15: 86,019,094 (GRCm39) |
S581P |
probably damaging |
Het |
| Heatr5b |
A |
T |
17: 79,067,940 (GRCm39) |
V1816E |
possibly damaging |
Het |
| Igf2r |
C |
T |
17: 12,928,398 (GRCm39) |
E982K |
possibly damaging |
Het |
| Il1r1 |
A |
G |
1: 40,337,084 (GRCm39) |
D224G |
probably benign |
Het |
| Kcnv1 |
G |
A |
15: 44,977,840 (GRCm39) |
T66M |
probably damaging |
Het |
| Lactb2 |
T |
A |
1: 13,730,574 (GRCm39) |
Y34F |
probably damaging |
Het |
| Lepr |
G |
A |
4: 101,622,349 (GRCm39) |
|
probably null |
Het |
| Loxhd1 |
A |
G |
18: 77,486,697 (GRCm39) |
I1261V |
possibly damaging |
Het |
| Map4k3 |
A |
G |
17: 80,904,980 (GRCm39) |
|
probably null |
Het |
| Mcee |
T |
C |
7: 64,061,686 (GRCm39) |
L109P |
probably damaging |
Het |
| Mier3 |
A |
G |
13: 111,841,817 (GRCm39) |
D124G |
probably damaging |
Het |
| Mrpl43 |
T |
C |
19: 44,994,549 (GRCm39) |
Y64C |
probably damaging |
Het |
| Nfasc |
A |
G |
1: 132,559,443 (GRCm39) |
F229S |
probably damaging |
Het |
| Nsd3 |
G |
C |
8: 26,131,333 (GRCm39) |
G233R |
probably benign |
Het |
| Or2ak7 |
A |
G |
11: 58,574,771 (GRCm39) |
D24G |
possibly damaging |
Het |
| Or8k27 |
T |
A |
2: 86,276,189 (GRCm39) |
I46F |
probably damaging |
Het |
| Pdzd8 |
T |
C |
19: 59,288,560 (GRCm39) |
T947A |
probably benign |
Het |
| Plod3 |
G |
C |
5: 137,017,000 (GRCm39) |
A50P |
probably benign |
Het |
| Pno1 |
A |
G |
11: 17,159,095 (GRCm39) |
S158P |
possibly damaging |
Het |
| Prr14l |
A |
G |
5: 32,985,920 (GRCm39) |
S1192P |
probably damaging |
Het |
| Setbp1 |
T |
A |
18: 79,129,794 (GRCm39) |
E146V |
probably damaging |
Het |
| Slc9a5 |
T |
C |
8: 106,076,087 (GRCm39) |
S27P |
probably benign |
Het |
| Sri |
G |
T |
5: 8,109,427 (GRCm39) |
|
probably null |
Het |
| Stard9 |
G |
A |
2: 120,532,427 (GRCm39) |
V2895I |
probably benign |
Het |
| Tgfbrap1 |
T |
C |
1: 43,095,866 (GRCm39) |
D524G |
probably benign |
Het |
| Them4 |
A |
G |
3: 94,237,172 (GRCm39) |
T211A |
possibly damaging |
Het |
| Thoc2l |
A |
G |
5: 104,669,315 (GRCm39) |
E1279G |
probably benign |
Het |
| Trpm3 |
A |
T |
19: 22,875,061 (GRCm39) |
S568C |
probably damaging |
Het |
| Ttl |
T |
C |
2: 128,917,778 (GRCm39) |
L80P |
probably damaging |
Het |
| Ttn |
G |
T |
2: 76,586,660 (GRCm39) |
N13423K |
possibly damaging |
Het |
| Usp10 |
T |
A |
8: 120,681,553 (GRCm39) |
L670Q |
probably damaging |
Het |
| Usp4 |
T |
A |
9: 108,245,222 (GRCm39) |
|
probably benign |
Het |
| Zmym5 |
T |
C |
14: 57,034,083 (GRCm39) |
N376S |
probably benign |
Het |
| Zswim6 |
G |
T |
13: 107,863,466 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Vmn1r72 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00885:Vmn1r72
|
APN |
7 |
11,404,424 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL02375:Vmn1r72
|
APN |
7 |
11,403,672 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL02809:Vmn1r72
|
APN |
7 |
11,403,930 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03104:Vmn1r72
|
APN |
7 |
11,403,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
3-1:Vmn1r72
|
UTSW |
7 |
11,403,825 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03014:Vmn1r72
|
UTSW |
7 |
11,403,711 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0346:Vmn1r72
|
UTSW |
7 |
11,403,621 (GRCm39) |
missense |
probably benign |
|
|
R0524:Vmn1r72
|
UTSW |
7 |
11,403,719 (GRCm39) |
missense |
probably benign |
0.32 |
|
R1951:Vmn1r72
|
UTSW |
7 |
11,403,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1953:Vmn1r72
|
UTSW |
7 |
11,403,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2181:Vmn1r72
|
UTSW |
7 |
11,403,595 (GRCm39) |
nonsense |
probably null |
|
|
R4182:Vmn1r72
|
UTSW |
7 |
11,403,995 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4496:Vmn1r72
|
UTSW |
7 |
11,403,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4999:Vmn1r72
|
UTSW |
7 |
11,404,300 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R5401:Vmn1r72
|
UTSW |
7 |
11,403,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5700:Vmn1r72
|
UTSW |
7 |
11,404,350 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5754:Vmn1r72
|
UTSW |
7 |
11,403,776 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6292:Vmn1r72
|
UTSW |
7 |
11,403,579 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6439:Vmn1r72
|
UTSW |
7 |
11,413,064 (GRCm39) |
splice site |
probably null |
|
|
R7616:Vmn1r72
|
UTSW |
7 |
11,404,272 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7629:Vmn1r72
|
UTSW |
7 |
11,403,711 (GRCm39) |
missense |
probably benign |
|
|
R7737:Vmn1r72
|
UTSW |
7 |
11,403,634 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7819:Vmn1r72
|
UTSW |
7 |
11,403,552 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8358:Vmn1r72
|
UTSW |
7 |
11,404,310 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8797:Vmn1r72
|
UTSW |
7 |
11,403,965 (GRCm39) |
missense |
probably benign |
|
|
R8848:Vmn1r72
|
UTSW |
7 |
11,404,269 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8947:Vmn1r72
|
UTSW |
7 |
11,403,807 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9010:Vmn1r72
|
UTSW |
7 |
11,404,145 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9165:Vmn1r72
|
UTSW |
7 |
11,412,951 (GRCm39) |
intron |
probably benign |
|
|
R9578:Vmn1r72
|
UTSW |
7 |
11,404,347 (GRCm39) |
missense |
probably benign |
0.10 |
|
X0063:Vmn1r72
|
UTSW |
7 |
11,403,639 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1088:Vmn1r72
|
UTSW |
7 |
11,404,100 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACACCAGGATGAGGATTGTTTG -3'
(R):5'- ATGTGCCTACTGAGTTGCTTTC -3'
Sequencing Primer
(F):5'- GTGATTGTTTTAGAAAGTACTGAGCC -3'
(R):5'- TTTCAAGCAATCACAATCAGCC -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation