Incidental Mutation 'R6623:Vmn1r113'
| ID |
524607 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r113
|
| Ensembl Gene |
ENSMUSG00000091638 |
| Gene Name |
vomeronasal 1 receptor 113 |
| Synonyms |
Gm5748 |
| MMRRC Submission |
044745-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R6623 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
20521210-20522133 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 20521991 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 261
(M261K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133307
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168794]
[ENSMUST00000173723]
|
| AlphaFold |
G3UWI8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168794
AA Change: M251K
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000126041
Gene: ENSMUSG00000091638
AA Change: M251K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TAS2R
|
8 |
288 |
4.2e-8 |
PFAM |
|
Pfam:V1R
|
41 |
288 |
2.8e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173723
AA Change: M261K
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000133307
Gene: ENSMUSG00000091638
AA Change: M261K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TAS2R
|
8 |
298 |
4e-16 |
PFAM |
|
Pfam:7tm_1
|
31 |
290 |
9.3e-7 |
PFAM |
|
Pfam:V1R
|
41 |
298 |
5e-17 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.2%
- 20x: 91.1%
|
| Validation Efficiency |
100% (29/29) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
T |
C |
17: 46,634,388 (GRCm39) |
K460E |
probably damaging |
Het |
| Acaca |
A |
C |
11: 84,262,325 (GRCm39) |
|
probably null |
Het |
| Adamts1 |
A |
G |
16: 85,592,525 (GRCm39) |
S628P |
probably benign |
Het |
| Ankrd13a |
A |
G |
5: 114,924,818 (GRCm39) |
N101S |
probably benign |
Het |
| Asic5 |
G |
A |
3: 81,915,892 (GRCm39) |
V281M |
probably damaging |
Het |
| Atxn7 |
T |
C |
14: 14,099,972 (GRCm38) |
S553P |
probably damaging |
Het |
| Cstdc2 |
A |
T |
2: 148,692,682 (GRCm39) |
I40K |
probably benign |
Het |
| Fndc3c1 |
G |
C |
X: 105,478,679 (GRCm39) |
L724V |
possibly damaging |
Homo |
| Hmcn1 |
A |
G |
1: 150,634,057 (GRCm39) |
F843S |
probably benign |
Het |
| Igkv10-96 |
T |
G |
6: 68,609,158 (GRCm39) |
S46R |
probably damaging |
Het |
| Itfg2 |
G |
T |
6: 128,388,620 (GRCm39) |
A289D |
probably damaging |
Het |
| Klc1 |
C |
A |
12: 111,772,475 (GRCm39) |
N597K |
probably damaging |
Het |
| Lnx2 |
A |
G |
5: 146,961,297 (GRCm39) |
V545A |
probably damaging |
Het |
| Map3k11 |
A |
G |
19: 5,745,631 (GRCm39) |
I344V |
probably damaging |
Het |
| Muc6 |
G |
A |
7: 141,223,981 (GRCm39) |
|
probably benign |
Het |
| Myrf |
C |
A |
19: 10,200,723 (GRCm39) |
A317S |
probably benign |
Het |
| Ncoa2 |
A |
T |
1: 13,251,521 (GRCm39) |
C251S |
probably damaging |
Het |
| Or52i2 |
T |
G |
7: 102,319,241 (GRCm39) |
M38R |
possibly damaging |
Het |
| Pcdhb12 |
C |
T |
18: 37,570,711 (GRCm39) |
T619I |
possibly damaging |
Het |
| Plxna1 |
A |
T |
6: 89,299,753 (GRCm39) |
M1672K |
probably damaging |
Het |
| Prl |
G |
T |
13: 27,245,492 (GRCm39) |
V72L |
probably benign |
Het |
| Prokr2 |
G |
T |
2: 132,215,494 (GRCm39) |
N161K |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,724,951 (GRCm39) |
D2454G |
probably damaging |
Het |
| Slc2a12 |
T |
A |
10: 22,540,799 (GRCm39) |
M218K |
probably damaging |
Het |
| Sorcs3 |
C |
T |
19: 48,776,944 (GRCm39) |
A992V |
probably benign |
Het |
| Stxbp2 |
T |
C |
8: 3,682,561 (GRCm39) |
I50T |
probably damaging |
Het |
| Supt20 |
A |
G |
3: 54,625,715 (GRCm39) |
I570M |
possibly damaging |
Het |
| Sv2b |
T |
A |
7: 74,856,132 (GRCm39) |
I53F |
probably damaging |
Het |
| Vmn1r217 |
T |
A |
13: 23,298,846 (GRCm39) |
I19F |
possibly damaging |
Het |
| Vmn2r45 |
T |
C |
7: 8,474,500 (GRCm39) |
T843A |
probably benign |
Het |
| Vmn2r69 |
T |
A |
7: 85,056,309 (GRCm39) |
I610L |
possibly damaging |
Het |
|
| Other mutations in Vmn1r113 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01908:Vmn1r113
|
APN |
7 |
20,521,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02082:Vmn1r113
|
APN |
7 |
20,521,672 (GRCm39) |
missense |
probably benign |
|
|
IGL02148:Vmn1r113
|
APN |
7 |
20,521,747 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL03169:Vmn1r113
|
APN |
7 |
20,522,012 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0593:Vmn1r113
|
UTSW |
7 |
20,521,388 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0669:Vmn1r113
|
UTSW |
7 |
20,521,345 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1212:Vmn1r113
|
UTSW |
7 |
20,521,356 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1693:Vmn1r113
|
UTSW |
7 |
20,521,532 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2228:Vmn1r113
|
UTSW |
7 |
20,521,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3945:Vmn1r113
|
UTSW |
7 |
20,521,637 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4209:Vmn1r113
|
UTSW |
7 |
20,521,535 (GRCm39) |
missense |
probably benign |
0.44 |
|
R5038:Vmn1r113
|
UTSW |
7 |
20,521,419 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R6306:Vmn1r113
|
UTSW |
7 |
20,521,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6675:Vmn1r113
|
UTSW |
7 |
20,521,903 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6677:Vmn1r113
|
UTSW |
7 |
20,521,903 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6678:Vmn1r113
|
UTSW |
7 |
20,521,903 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6968:Vmn1r113
|
UTSW |
7 |
20,521,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7054:Vmn1r113
|
UTSW |
7 |
20,521,427 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7256:Vmn1r113
|
UTSW |
7 |
20,521,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8926:Vmn1r113
|
UTSW |
7 |
20,521,874 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9131:Vmn1r113
|
UTSW |
7 |
20,521,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGTACGATGCCACATTCATG -3'
(R):5'- CCTTAATGGTATTAGTGAAGCTGTC -3'
Sequencing Primer
(F):5'- ATGAGCATCATGGTCTGGAC -3'
(R):5'- AGTGAAGCTGTCTTTTGCATTTAGC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation