Incidental Mutation 'R1333:Vmn1r9'
| ID |
156772 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r9
|
| Ensembl Gene |
ENSMUSG00000091541 |
| Gene Name |
vomeronasal 1 receptor 9 |
| Synonyms |
V1rc30 |
| MMRRC Submission |
039398-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R1333 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
57047880-57048930 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 57048615 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 230
(I230T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153808
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000171186]
[ENSMUST00000227399]
[ENSMUST00000228714]
|
| AlphaFold |
A2RST7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171186
AA Change: I230T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000125762
Gene: ENSMUSG00000091541
AA Change: I230T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V1R
|
28 |
293 |
1.1e-53 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227399
AA Change: I230T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228714
AA Change: I230T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.2%
- 20x: 90.3%
|
| Validation Efficiency |
98% (41/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts18 |
A |
G |
8: 114,431,805 (GRCm39) |
|
probably benign |
Het |
| Amph |
G |
A |
13: 19,326,198 (GRCm39) |
V643M |
probably damaging |
Het |
| Amt |
A |
G |
9: 108,178,296 (GRCm39) |
D301G |
probably benign |
Het |
| Arhgef26 |
T |
C |
3: 62,247,744 (GRCm39) |
V276A |
probably benign |
Het |
| Bid |
C |
T |
6: 120,874,216 (GRCm39) |
A110T |
possibly damaging |
Het |
| Ccdc63 |
T |
C |
5: 122,246,224 (GRCm39) |
T566A |
probably benign |
Het |
| Cdk5rap1 |
A |
G |
2: 154,202,574 (GRCm39) |
S219P |
probably damaging |
Het |
| Col1a2 |
T |
A |
6: 4,515,684 (GRCm39) |
|
probably null |
Het |
| Ctns |
G |
A |
11: 73,075,823 (GRCm39) |
T342I |
probably benign |
Het |
| Dst |
G |
A |
1: 34,267,428 (GRCm39) |
E4957K |
probably damaging |
Het |
| Elp1 |
C |
T |
4: 56,770,969 (GRCm39) |
|
probably benign |
Het |
| Fam163b |
A |
G |
2: 27,003,659 (GRCm39) |
|
probably benign |
Het |
| Frem2 |
T |
C |
3: 53,457,152 (GRCm39) |
T2067A |
probably benign |
Het |
| Gm7353 |
C |
T |
7: 3,159,066 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9791 |
T |
C |
3: 34,059,225 (GRCm39) |
|
noncoding transcript |
Het |
| Grik2 |
G |
T |
10: 49,404,087 (GRCm39) |
T258N |
probably damaging |
Het |
| Herc3 |
T |
C |
6: 58,864,478 (GRCm39) |
L704P |
probably damaging |
Het |
| Hjurp |
A |
C |
1: 88,193,768 (GRCm39) |
V380G |
probably damaging |
Het |
| Lrrc56 |
A |
G |
7: 140,778,177 (GRCm39) |
|
probably benign |
Het |
| Mast3 |
G |
A |
8: 71,233,938 (GRCm39) |
P187S |
probably damaging |
Het |
| Mier2 |
A |
G |
10: 79,380,991 (GRCm39) |
V231A |
probably benign |
Het |
| Muc5b |
A |
G |
7: 141,422,144 (GRCm39) |
T4427A |
possibly damaging |
Het |
| Nox4 |
A |
G |
7: 86,896,072 (GRCm39) |
S7G |
possibly damaging |
Het |
| Obscn |
G |
C |
11: 58,971,143 (GRCm39) |
Q2457E |
probably damaging |
Het |
| Sh3bgrl2 |
C |
T |
9: 83,459,684 (GRCm39) |
|
probably benign |
Het |
| Slc1a1 |
A |
G |
19: 28,812,611 (GRCm39) |
|
probably benign |
Het |
| Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
| Stard9 |
C |
A |
2: 120,504,117 (GRCm39) |
S221R |
probably damaging |
Het |
| Stat6 |
G |
C |
10: 127,487,094 (GRCm39) |
R200S |
possibly damaging |
Het |
| Stxbp5l |
C |
A |
16: 37,068,231 (GRCm39) |
|
probably null |
Het |
| Tanc1 |
A |
G |
2: 59,673,835 (GRCm39) |
S1647G |
probably benign |
Het |
| Tmem132d |
T |
A |
5: 127,861,923 (GRCm39) |
M733L |
probably benign |
Het |
| Unc13d |
A |
G |
11: 115,964,381 (GRCm39) |
|
probably benign |
Het |
| Usp24 |
T |
C |
4: 106,199,550 (GRCm39) |
S165P |
possibly damaging |
Het |
| Zscan20 |
T |
C |
4: 128,481,889 (GRCm39) |
D591G |
possibly damaging |
Het |
|
| Other mutations in Vmn1r9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0551:Vmn1r9
|
UTSW |
6 |
57,048,524 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1295:Vmn1r9
|
UTSW |
6 |
57,048,522 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1781:Vmn1r9
|
UTSW |
6 |
57,048,300 (GRCm39) |
missense |
probably benign |
|
|
R1840:Vmn1r9
|
UTSW |
6 |
57,048,522 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2960:Vmn1r9
|
UTSW |
6 |
57,048,657 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R4064:Vmn1r9
|
UTSW |
6 |
57,048,306 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4694:Vmn1r9
|
UTSW |
6 |
57,048,314 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4884:Vmn1r9
|
UTSW |
6 |
57,048,294 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R6023:Vmn1r9
|
UTSW |
6 |
57,048,239 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6031:Vmn1r9
|
UTSW |
6 |
57,048,158 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6031:Vmn1r9
|
UTSW |
6 |
57,048,158 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6761:Vmn1r9
|
UTSW |
6 |
57,048,291 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7052:Vmn1r9
|
UTSW |
6 |
57,048,396 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7129:Vmn1r9
|
UTSW |
6 |
57,048,611 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8037:Vmn1r9
|
UTSW |
6 |
57,047,988 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8745:Vmn1r9
|
UTSW |
6 |
57,048,767 (GRCm39) |
missense |
probably benign |
0.39 |
|
R8930:Vmn1r9
|
UTSW |
6 |
57,048,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8932:Vmn1r9
|
UTSW |
6 |
57,048,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9053:Vmn1r9
|
UTSW |
6 |
57,048,513 (GRCm39) |
missense |
probably benign |
|
|
R9144:Vmn1r9
|
UTSW |
6 |
57,048,788 (GRCm39) |
missense |
probably benign |
0.44 |
|
R9167:Vmn1r9
|
UTSW |
6 |
57,048,138 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9580:Vmn1r9
|
UTSW |
6 |
57,048,812 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9642:Vmn1r9
|
UTSW |
6 |
57,048,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF009:Vmn1r9
|
UTSW |
6 |
57,048,465 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCACCTGCCTTCTGAGTGTGT -3'
(R):5'- GATTTGTACCAAAGGGGTAATTGTGGGA -3'
Sequencing Primer
(F):5'- TACTAATGTGAGTGAGACCAACC -3'
(R):5'- GTGGGATAGGCATTCATCATAAAC -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation