Incidental Mutation 'R6607:Vmn1r203'
| ID |
525761 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r203
|
| Ensembl Gene |
ENSMUSG00000069289 |
| Gene Name |
vomeronasal 1 receptor 203 |
| Synonyms |
V1rh11 |
| MMRRC Submission |
044730-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
R6607 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
22708221-22709156 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 22708891 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 224
(Y224C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154399
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091729]
[ENSMUST00000227520]
[ENSMUST00000228889]
|
| AlphaFold |
Q8R273 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000091729
AA Change: Y224C
PolyPhen 2
Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000089322
Gene: ENSMUSG00000069289
AA Change: Y224C
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
19 |
41 |
N/A |
INTRINSIC |
|
Pfam:V1R
|
43 |
304 |
5.8e-35 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137651
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227520
AA Change: Y224C
PolyPhen 2
Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228889
AA Change: Y224C
PolyPhen 2
Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
| Validation Efficiency |
96% (27/28) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4galt |
T |
C |
15: 83,112,507 (GRCm39) |
D92G |
possibly damaging |
Het |
| Ace |
A |
T |
11: 105,863,203 (GRCm39) |
H326L |
possibly damaging |
Het |
| Adtrp |
A |
G |
13: 41,931,087 (GRCm39) |
F167L |
probably benign |
Het |
| Agbl2 |
A |
G |
2: 90,631,670 (GRCm39) |
T343A |
probably damaging |
Het |
| Cacna1a |
A |
T |
8: 85,306,121 (GRCm39) |
I1290F |
probably damaging |
Het |
| Cdh4 |
G |
A |
2: 179,515,889 (GRCm39) |
V356I |
probably benign |
Het |
| Celsr1 |
A |
G |
15: 85,847,486 (GRCm39) |
V1417A |
probably benign |
Het |
| Ctbs |
A |
G |
3: 146,163,128 (GRCm39) |
D172G |
possibly damaging |
Het |
| Dnah5 |
A |
G |
15: 28,445,346 (GRCm39) |
T4161A |
possibly damaging |
Het |
| Dut |
A |
G |
2: 125,098,787 (GRCm39) |
D140G |
probably damaging |
Het |
| Ep400 |
T |
C |
5: 110,831,180 (GRCm39) |
D2162G |
unknown |
Het |
| Esyt2 |
G |
A |
12: 116,332,360 (GRCm39) |
D781N |
probably benign |
Het |
| Fam174b |
T |
C |
7: 73,416,312 (GRCm39) |
L135P |
probably damaging |
Het |
| Fbxo15 |
A |
T |
18: 84,977,270 (GRCm39) |
T106S |
possibly damaging |
Het |
| Foxq1 |
A |
G |
13: 31,743,129 (GRCm39) |
D77G |
possibly damaging |
Het |
| Gclm |
G |
A |
3: 122,049,264 (GRCm39) |
|
probably null |
Het |
| Gcn1 |
T |
A |
5: 115,747,537 (GRCm39) |
S1677T |
probably damaging |
Het |
| Hamp2 |
T |
A |
7: 30,622,013 (GRCm39) |
R59* |
probably null |
Het |
| Herc1 |
C |
T |
9: 66,325,849 (GRCm39) |
A1441V |
probably benign |
Het |
| Lrp1 |
G |
A |
10: 127,396,005 (GRCm39) |
H2422Y |
probably damaging |
Het |
| Rbks |
C |
T |
5: 31,805,136 (GRCm39) |
V243M |
possibly damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Homo |
| Slc17a4 |
T |
C |
13: 24,089,397 (GRCm39) |
|
probably null |
Het |
| Slc29a1 |
A |
C |
17: 45,899,853 (GRCm39) |
|
probably null |
Het |
| Tenm2 |
A |
G |
11: 35,954,602 (GRCm39) |
|
probably null |
Het |
| Tmem26 |
T |
A |
10: 68,614,543 (GRCm39) |
H319Q |
probably benign |
Het |
| Vmn1r223 |
T |
C |
13: 23,433,919 (GRCm39) |
I171T |
probably damaging |
Het |
| Vmn2r101 |
T |
C |
17: 19,832,296 (GRCm39) |
L764S |
probably damaging |
Het |
| Vmn2r84 |
T |
C |
10: 130,226,731 (GRCm39) |
H369R |
possibly damaging |
Het |
|
| Other mutations in Vmn1r203 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01356:Vmn1r203
|
APN |
13 |
22,708,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01527:Vmn1r203
|
APN |
13 |
22,708,447 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL01808:Vmn1r203
|
APN |
13 |
22,708,717 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01887:Vmn1r203
|
APN |
13 |
22,709,046 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02340:Vmn1r203
|
APN |
13 |
22,708,997 (GRCm39) |
nonsense |
probably null |
|
|
IGL02543:Vmn1r203
|
APN |
13 |
22,709,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02684:Vmn1r203
|
APN |
13 |
22,708,539 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
BB005:Vmn1r203
|
UTSW |
13 |
22,708,705 (GRCm39) |
missense |
probably benign |
0.01 |
|
BB015:Vmn1r203
|
UTSW |
13 |
22,708,705 (GRCm39) |
missense |
probably benign |
0.01 |
|
PIT4519001:Vmn1r203
|
UTSW |
13 |
22,708,765 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0544:Vmn1r203
|
UTSW |
13 |
22,708,443 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1365:Vmn1r203
|
UTSW |
13 |
22,708,756 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1396:Vmn1r203
|
UTSW |
13 |
22,708,678 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1794:Vmn1r203
|
UTSW |
13 |
22,708,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2010:Vmn1r203
|
UTSW |
13 |
22,708,617 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R2169:Vmn1r203
|
UTSW |
13 |
22,708,905 (GRCm39) |
nonsense |
probably null |
|
|
R2333:Vmn1r203
|
UTSW |
13 |
22,709,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2418:Vmn1r203
|
UTSW |
13 |
22,709,004 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R2419:Vmn1r203
|
UTSW |
13 |
22,709,004 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R4322:Vmn1r203
|
UTSW |
13 |
22,708,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4460:Vmn1r203
|
UTSW |
13 |
22,708,852 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4686:Vmn1r203
|
UTSW |
13 |
22,708,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5526:Vmn1r203
|
UTSW |
13 |
22,708,273 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6240:Vmn1r203
|
UTSW |
13 |
22,708,899 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7575:Vmn1r203
|
UTSW |
13 |
22,708,588 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7928:Vmn1r203
|
UTSW |
13 |
22,708,705 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8375:Vmn1r203
|
UTSW |
13 |
22,709,154 (GRCm39) |
makesense |
probably null |
|
|
R8421:Vmn1r203
|
UTSW |
13 |
22,709,154 (GRCm39) |
makesense |
probably null |
|
|
R8424:Vmn1r203
|
UTSW |
13 |
22,709,004 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8845:Vmn1r203
|
UTSW |
13 |
22,708,720 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8933:Vmn1r203
|
UTSW |
13 |
22,708,691 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R8956:Vmn1r203
|
UTSW |
13 |
22,709,004 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R9493:Vmn1r203
|
UTSW |
13 |
22,708,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Vmn1r203
|
UTSW |
13 |
22,708,579 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCATTCCATTAGAAGCACAAGTCTG -3'
(R):5'- AAAGTTGCATAACCAAGGGCC -3'
Sequencing Primer
(F):5'- AGCACAAGTCTGAATATATCACAAC -3'
(R):5'- GGGCCAGAAAATTTCGAGTGTTTAC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation