Incidental Mutation 'R2181:Vmn1r72'
| ID |
237184 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r72
|
| Ensembl Gene |
ENSMUSG00000095430 |
| Gene Name |
vomeronasal 1 receptor 72 |
| Synonyms |
V1rg1 |
| MMRRC Submission |
040183-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R2181 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
11403526-11404446 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 11403595 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 284
(C284*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154511
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053134]
[ENSMUST00000209638]
[ENSMUST00000227010]
|
| AlphaFold |
Q8K3N7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000053134
AA Change: C284*
|
| SMART Domains |
Protein: ENSMUSP00000052997
Gene: ENSMUSG00000095430
AA Change: C284*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TAS2R
|
1 |
305 |
1.8e-9 |
PFAM |
|
Pfam:V1R
|
25 |
300 |
6.7e-26 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000209638
AA Change: C284*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000227010
AA Change: C284*
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700037C18Rik |
C |
T |
16: 3,724,950 (GRCm39) |
S43N |
possibly damaging |
Het |
| Abcb5 |
T |
G |
12: 118,831,681 (GRCm39) |
I1224L |
possibly damaging |
Het |
| Adgra2 |
G |
A |
8: 27,611,701 (GRCm39) |
G1002S |
probably damaging |
Het |
| Arhgap28 |
T |
C |
17: 68,203,112 (GRCm39) |
T114A |
probably damaging |
Het |
| Colec12 |
T |
A |
18: 9,846,828 (GRCm39) |
S75T |
probably damaging |
Het |
| Cyp2c67 |
A |
G |
19: 39,597,541 (GRCm39) |
C486R |
possibly damaging |
Het |
| Ecm2 |
T |
A |
13: 49,683,765 (GRCm39) |
L581Q |
probably damaging |
Het |
| Faxc |
T |
A |
4: 21,931,591 (GRCm39) |
S10T |
probably benign |
Het |
| Frem2 |
A |
G |
3: 53,482,008 (GRCm39) |
I1893T |
possibly damaging |
Het |
| Gabrr3 |
T |
A |
16: 59,268,372 (GRCm39) |
D328E |
probably damaging |
Het |
| Gbp7 |
A |
G |
3: 142,249,791 (GRCm39) |
I421V |
possibly damaging |
Het |
| Gorasp1 |
A |
G |
9: 119,757,422 (GRCm39) |
S317P |
probably damaging |
Het |
| Htr6 |
A |
G |
4: 138,801,736 (GRCm39) |
S113P |
probably damaging |
Het |
| Ift74 |
A |
G |
4: 94,520,951 (GRCm39) |
E168G |
probably damaging |
Het |
| Kdm6b |
A |
T |
11: 69,291,952 (GRCm39) |
Y1443* |
probably null |
Het |
| Mmp28 |
A |
C |
11: 83,333,543 (GRCm39) |
V466G |
possibly damaging |
Het |
| Nbea |
A |
T |
3: 55,937,360 (GRCm39) |
S750R |
possibly damaging |
Het |
| Nbeal1 |
T |
C |
1: 60,317,939 (GRCm39) |
F1959L |
probably damaging |
Het |
| Nelfa |
T |
C |
5: 34,057,853 (GRCm39) |
N314D |
probably benign |
Het |
| Numbl |
T |
A |
7: 26,968,346 (GRCm39) |
|
probably null |
Het |
| Or13c25 |
T |
A |
4: 52,911,524 (GRCm39) |
K90M |
probably damaging |
Het |
| Or1j17 |
G |
A |
2: 36,578,346 (GRCm39) |
D111N |
probably damaging |
Het |
| Or2p2 |
G |
T |
13: 21,257,394 (GRCm39) |
P26T |
probably damaging |
Het |
| Or52e5 |
T |
C |
7: 104,719,418 (GRCm39) |
V248A |
possibly damaging |
Het |
| Or5b113 |
G |
T |
19: 13,342,438 (GRCm39) |
V149F |
probably benign |
Het |
| Penk |
T |
C |
4: 4,134,041 (GRCm39) |
|
probably null |
Het |
| Pglyrp2 |
A |
G |
17: 32,637,936 (GRCm39) |
S31P |
probably damaging |
Het |
| Pigg |
T |
C |
5: 108,484,366 (GRCm39) |
S538P |
probably damaging |
Het |
| Pld2 |
A |
G |
11: 70,433,815 (GRCm39) |
T252A |
possibly damaging |
Het |
| Ppp2r5e |
T |
C |
12: 75,509,098 (GRCm39) |
I394V |
probably benign |
Het |
| Sh3rf1 |
G |
T |
8: 61,816,272 (GRCm39) |
V510F |
probably damaging |
Het |
| Slc4a2 |
A |
G |
5: 24,640,651 (GRCm39) |
H677R |
possibly damaging |
Het |
| Stam2 |
A |
T |
2: 52,593,156 (GRCm39) |
H345Q |
probably benign |
Het |
| Tmtc3 |
T |
C |
10: 100,284,835 (GRCm39) |
N600S |
probably benign |
Het |
| Trappc8 |
A |
G |
18: 20,952,279 (GRCm39) |
|
probably null |
Het |
| Vmn2r76 |
T |
C |
7: 85,874,743 (GRCm39) |
I745V |
probably benign |
Het |
| Zfhx4 |
A |
C |
3: 5,468,392 (GRCm39) |
D2850A |
probably damaging |
Het |
| Zfp764 |
A |
G |
7: 127,005,671 (GRCm39) |
W36R |
probably damaging |
Het |
| Zfp804b |
G |
A |
5: 6,821,674 (GRCm39) |
T463I |
probably damaging |
Het |
| Zfp811 |
T |
G |
17: 33,016,695 (GRCm39) |
K448N |
probably damaging |
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 |
|
R4182:Vmn1r72
|
UTSW |
7 |
11,403,995 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4345:Vmn1r72
|
UTSW |
7 |
11,403,963 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
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'- AGACTGACACTGGTGTAGAGTC -3'
(R):5'- GGCTCAGTACTTTCTAAAACAATCACC -3'
Sequencing Primer
(F):5'- GGAGTACAATGCCCTCTTAAAGACTG -3'
(R):5'- TTTCTAAAACAATCACCAGAAAACAG -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation