Incidental Mutation 'R4229:Vmn1r223'
| ID |
320137 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r223
|
| Ensembl Gene |
ENSMUSG00000069280 |
| Gene Name |
vomeronasal 1 receptor 223 |
| Synonyms |
Gm11330 |
| MMRRC Submission |
041048-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
R4229 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
23433408-23434493 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 23433585 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 60
(M60L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000089312
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091719]
|
| AlphaFold |
Q5SSA0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000091719
AA Change: M60L
PolyPhen 2
Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000089312
Gene: ENSMUSG00000069280
AA Change: M60L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
46 |
59 |
N/A |
INTRINSIC |
|
Pfam:TAS2R
|
63 |
355 |
6.6e-10 |
PFAM |
|
Pfam:V1R
|
94 |
357 |
2.1e-39 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.5%
|
| Validation Efficiency |
98% (42/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
| Aadac |
A |
G |
3: 59,939,234 (GRCm39) |
K3E |
possibly damaging |
Het |
| Cdc14a |
A |
G |
3: 116,087,413 (GRCm39) |
S533P |
probably damaging |
Het |
| Dsc3 |
G |
A |
18: 20,098,878 (GRCm39) |
T767I |
probably damaging |
Het |
| Dse |
A |
T |
10: 34,038,740 (GRCm39) |
M221K |
probably damaging |
Het |
| Etfb |
C |
A |
7: 43,105,984 (GRCm39) |
R174S |
probably damaging |
Het |
| Gm10735 |
T |
C |
13: 113,177,743 (GRCm39) |
|
probably benign |
Het |
| Gm27013 |
A |
T |
6: 130,654,308 (GRCm39) |
S385T |
possibly damaging |
Het |
| Gsap |
A |
G |
5: 21,451,975 (GRCm39) |
D339G |
probably benign |
Het |
| H2-T24 |
G |
A |
17: 36,325,721 (GRCm39) |
A290V |
probably benign |
Het |
| Ifi44l |
A |
T |
3: 151,468,514 (GRCm39) |
C5* |
probably null |
Het |
| Lipk |
A |
G |
19: 33,997,687 (GRCm39) |
Y56C |
probably damaging |
Het |
| Mrpl21 |
A |
G |
19: 3,336,901 (GRCm39) |
I91V |
probably damaging |
Het |
| Nin |
T |
C |
12: 70,097,984 (GRCm39) |
E492G |
probably damaging |
Het |
| Nxpe4 |
A |
G |
9: 48,304,122 (GRCm39) |
R70G |
possibly damaging |
Het |
| Or1e1 |
A |
T |
11: 73,245,058 (GRCm39) |
T160S |
probably damaging |
Het |
| Or4k36 |
A |
G |
2: 111,146,681 (GRCm39) |
I286V |
probably damaging |
Het |
| Or4p18 |
T |
A |
2: 88,233,227 (GRCm39) |
Q17L |
possibly damaging |
Het |
| Or52e18 |
A |
T |
7: 104,609,801 (GRCm39) |
I46N |
probably benign |
Het |
| Plaur |
T |
C |
7: 24,166,208 (GRCm39) |
V93A |
probably damaging |
Het |
| Ptprv |
C |
A |
1: 135,053,945 (GRCm39) |
|
noncoding transcript |
Het |
| Rabep1 |
A |
G |
11: 70,799,260 (GRCm39) |
T295A |
probably benign |
Het |
| Sec24b |
G |
T |
3: 129,834,368 (GRCm39) |
Q141K |
probably benign |
Het |
| Set |
A |
G |
2: 29,959,531 (GRCm39) |
Y139C |
probably damaging |
Het |
| Sspo |
T |
C |
6: 48,467,868 (GRCm39) |
S4272P |
probably benign |
Het |
| Tmc3 |
T |
C |
7: 83,246,610 (GRCm39) |
|
probably benign |
Het |
| Tmem229a |
T |
A |
6: 24,954,831 (GRCm39) |
I308F |
probably damaging |
Het |
| Zfp148 |
A |
G |
16: 33,255,133 (GRCm39) |
E41G |
probably benign |
Het |
| Zfp677 |
T |
C |
17: 21,618,544 (GRCm39) |
S534P |
probably damaging |
Het |
|
| Other mutations in Vmn1r223 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00661:Vmn1r223
|
APN |
13 |
23,434,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01016:Vmn1r223
|
APN |
13 |
23,434,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01353:Vmn1r223
|
APN |
13 |
23,433,426 (GRCm39) |
missense |
unknown |
|
|
IGL01941:Vmn1r223
|
APN |
13 |
23,434,407 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02976:Vmn1r223
|
APN |
13 |
23,434,165 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03064:Vmn1r223
|
APN |
13 |
23,434,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03136:Vmn1r223
|
APN |
13 |
23,433,933 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
PIT4812001:Vmn1r223
|
UTSW |
13 |
23,434,060 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1468:Vmn1r223
|
UTSW |
13 |
23,434,038 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1468:Vmn1r223
|
UTSW |
13 |
23,434,038 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1592:Vmn1r223
|
UTSW |
13 |
23,433,837 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R1640:Vmn1r223
|
UTSW |
13 |
23,434,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2116:Vmn1r223
|
UTSW |
13 |
23,433,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3076:Vmn1r223
|
UTSW |
13 |
23,434,335 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4230:Vmn1r223
|
UTSW |
13 |
23,433,585 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5420:Vmn1r223
|
UTSW |
13 |
23,433,675 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6412:Vmn1r223
|
UTSW |
13 |
23,433,825 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6424:Vmn1r223
|
UTSW |
13 |
23,434,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6607:Vmn1r223
|
UTSW |
13 |
23,433,919 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6944:Vmn1r223
|
UTSW |
13 |
23,433,483 (GRCm39) |
missense |
unknown |
|
|
R7256:Vmn1r223
|
UTSW |
13 |
23,434,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8241:Vmn1r223
|
UTSW |
13 |
23,433,982 (GRCm39) |
missense |
probably benign |
0.38 |
|
R8315:Vmn1r223
|
UTSW |
13 |
23,434,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8347:Vmn1r223
|
UTSW |
13 |
23,434,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8975:Vmn1r223
|
UTSW |
13 |
23,434,248 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R9075:Vmn1r223
|
UTSW |
13 |
23,433,600 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCATCATCATCTCCATGTCAATG -3'
(R):5'- ATTGTGGCTATGTCTCTGACCC -3'
Sequencing Primer
(F):5'- TGGAACAAAGAACAGAAGGTCC -3'
(R):5'- CTCTGACCCCTATGCAATAAATAATG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation