Incidental Mutation 'R2299:Vmn1r174'
| ID |
245261 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r174
|
| Ensembl Gene |
ENSMUSG00000090411 |
| Gene Name |
vomeronasal 1 receptor 174 |
| Synonyms |
V1rd22 |
| MMRRC Submission |
040298-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R2299 (G1)
|
| Quality Score |
196 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
23453336-23454277 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 23453429 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 32
(I32F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154506
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000167551]
[ENSMUST00000228331]
|
| AlphaFold |
E9PYW5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167551
AA Change: I32F
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000126478
Gene: ENSMUSG00000090411
AA Change: I32F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TAS2R
|
8 |
300 |
4e-9 |
PFAM |
|
Pfam:V1R
|
43 |
300 |
5e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228331
AA Change: I32F
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (37/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933434E20Rik |
A |
G |
3: 89,971,845 (GRCm39) |
N68S |
possibly damaging |
Het |
| 5031439G07Rik |
A |
C |
15: 84,837,486 (GRCm39) |
F276V |
possibly damaging |
Het |
| Abca12 |
C |
T |
1: 71,297,381 (GRCm39) |
V2370I |
probably damaging |
Het |
| Acsl3 |
T |
G |
1: 78,676,827 (GRCm39) |
C469W |
probably damaging |
Het |
| Adgrg5 |
A |
T |
8: 95,665,204 (GRCm39) |
I372F |
possibly damaging |
Het |
| Ankrd42 |
A |
G |
7: 92,239,462 (GRCm39) |
I442T |
probably benign |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Bmpr1b |
C |
A |
3: 141,550,963 (GRCm39) |
R376L |
probably damaging |
Het |
| C1qtnf6 |
T |
A |
15: 78,409,542 (GRCm39) |
T102S |
probably benign |
Het |
| Chordc1 |
T |
C |
9: 18,213,404 (GRCm39) |
L85P |
probably damaging |
Het |
| Clec2j |
T |
A |
6: 128,632,199 (GRCm39) |
|
noncoding transcript |
Het |
| Copa |
T |
C |
1: 171,949,292 (GRCm39) |
I1223T |
probably benign |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Cyfip2 |
T |
A |
11: 46,176,958 (GRCm39) |
E74V |
probably benign |
Het |
| Dsg1a |
A |
T |
18: 20,473,207 (GRCm39) |
D760V |
probably damaging |
Het |
| Folr1 |
A |
G |
7: 101,513,199 (GRCm39) |
L32P |
probably damaging |
Het |
| Galnt13 |
A |
T |
2: 54,950,595 (GRCm39) |
R425S |
possibly damaging |
Het |
| Gm4559 |
A |
T |
7: 141,827,572 (GRCm39) |
C177S |
unknown |
Het |
| H2bc9 |
A |
G |
13: 23,727,354 (GRCm39) |
S57P |
probably damaging |
Het |
| H3f3a |
C |
T |
1: 180,630,703 (GRCm39) |
R117H |
probably benign |
Het |
| Kansl1l |
T |
C |
1: 66,812,636 (GRCm39) |
D459G |
probably damaging |
Het |
| Limd1 |
A |
T |
9: 123,345,942 (GRCm39) |
K574* |
probably null |
Het |
| Mmrn1 |
A |
G |
6: 60,953,425 (GRCm39) |
K569E |
probably damaging |
Het |
| Or51f1d |
T |
C |
7: 102,700,789 (GRCm39) |
W95R |
probably damaging |
Het |
| Ppp4r3c1 |
A |
G |
X: 88,976,005 (GRCm39) |
M64T |
possibly damaging |
Het |
| Ppwd1 |
T |
C |
13: 104,356,571 (GRCm39) |
M315V |
probably benign |
Het |
| Prss21 |
A |
G |
17: 24,088,563 (GRCm39) |
E176G |
probably benign |
Het |
| Ptpn23 |
A |
G |
9: 110,221,581 (GRCm39) |
I173T |
possibly damaging |
Het |
| Rit1 |
T |
A |
3: 88,633,377 (GRCm39) |
|
probably null |
Het |
| Rnf14 |
C |
T |
18: 38,441,138 (GRCm39) |
A176V |
probably benign |
Het |
| Sema5a |
T |
A |
15: 32,562,922 (GRCm39) |
V311E |
possibly damaging |
Het |
| Slc28a2 |
C |
T |
2: 122,272,259 (GRCm39) |
Q34* |
probably null |
Het |
| Spire1 |
A |
C |
18: 67,663,493 (GRCm39) |
L36R |
probably damaging |
Het |
| Usp33 |
T |
A |
3: 152,080,258 (GRCm39) |
V463E |
probably damaging |
Het |
| Vcpip1 |
A |
G |
1: 9,815,944 (GRCm39) |
L813S |
possibly damaging |
Het |
| Zbtb24 |
G |
A |
10: 41,340,577 (GRCm39) |
V536M |
probably damaging |
Het |
|
| Other mutations in Vmn1r174 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00331:Vmn1r174
|
APN |
7 |
23,453,958 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL00950:Vmn1r174
|
APN |
7 |
23,453,911 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
IGL01484:Vmn1r174
|
APN |
7 |
23,453,749 (GRCm39) |
nonsense |
probably null |
|
|
IGL02014:Vmn1r174
|
APN |
7 |
23,453,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02190:Vmn1r174
|
APN |
7 |
23,454,252 (GRCm39) |
missense |
unknown |
|
|
IGL03265:Vmn1r174
|
APN |
7 |
23,453,898 (GRCm39) |
nonsense |
probably null |
|
|
IGL03335:Vmn1r174
|
APN |
7 |
23,453,937 (GRCm39) |
missense |
probably benign |
0.41 |
|
R0529:Vmn1r174
|
UTSW |
7 |
23,453,622 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1489:Vmn1r174
|
UTSW |
7 |
23,453,981 (GRCm39) |
nonsense |
probably null |
|
|
R1645:Vmn1r174
|
UTSW |
7 |
23,453,777 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1691:Vmn1r174
|
UTSW |
7 |
23,453,337 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R1753:Vmn1r174
|
UTSW |
7 |
23,453,622 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1939:Vmn1r174
|
UTSW |
7 |
23,453,532 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1988:Vmn1r174
|
UTSW |
7 |
23,454,050 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4429:Vmn1r174
|
UTSW |
7 |
23,453,565 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4516:Vmn1r174
|
UTSW |
7 |
23,453,768 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4589:Vmn1r174
|
UTSW |
7 |
23,454,204 (GRCm39) |
nonsense |
probably null |
|
|
R5175:Vmn1r174
|
UTSW |
7 |
23,454,153 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5392:Vmn1r174
|
UTSW |
7 |
23,454,227 (GRCm39) |
missense |
unknown |
|
|
R5503:Vmn1r174
|
UTSW |
7 |
23,453,562 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5568:Vmn1r174
|
UTSW |
7 |
23,453,919 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6705:Vmn1r174
|
UTSW |
7 |
23,453,851 (GRCm39) |
missense |
probably benign |
0.25 |
|
R8168:Vmn1r174
|
UTSW |
7 |
23,454,096 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8190:Vmn1r174
|
UTSW |
7 |
23,453,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8523:Vmn1r174
|
UTSW |
7 |
23,454,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8555:Vmn1r174
|
UTSW |
7 |
23,453,970 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8913:Vmn1r174
|
UTSW |
7 |
23,453,375 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8979:Vmn1r174
|
UTSW |
7 |
23,453,892 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8990:Vmn1r174
|
UTSW |
7 |
23,453,956 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
X0011:Vmn1r174
|
UTSW |
7 |
23,453,906 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGGTGTCTTCTTACCCAGG -3'
(R):5'- AGTACTCAAGCTTACAGTTGAGG -3'
Sequencing Primer
(F):5'- GGTGTCTTCTTACCCAGGAAAATAC -3'
(R):5'- ACAGTTGAGGTCATTTAGAGGATTCC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation