Incidental Mutation 'R0686:Vmn1r214'
| ID |
61182 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r214
|
| Ensembl Gene |
ENSMUSG00000061829 |
| Gene Name |
vomeronasal 1 receptor 214 |
| Synonyms |
V1rh5 |
| MMRRC Submission |
038871-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.050)
|
| Stock # |
R0686 (G1)
|
| Quality Score |
100 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
23218508-23219611 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 23218962 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 152
(I152N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153823
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074252]
[ENSMUST00000227236]
[ENSMUST00000227652]
|
| AlphaFold |
Q8R279 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000074252
AA Change: I152N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000073868
Gene: ENSMUSG00000061829
AA Change: I152N
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
17 |
39 |
N/A |
INTRINSIC |
|
Pfam:TAS2R
|
42 |
346 |
7.5e-9 |
PFAM |
|
Pfam:V1R
|
75 |
337 |
5.3e-32 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227236
AA Change: I152N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227652
AA Change: I152N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700123K08Rik |
C |
T |
5: 138,562,799 (GRCm39) |
E42K |
possibly damaging |
Het |
| Arhgef12 |
A |
C |
9: 42,904,324 (GRCm39) |
L718R |
probably benign |
Het |
| Bsx |
T |
G |
9: 40,787,733 (GRCm39) |
S136A |
probably damaging |
Het |
| Ccne2 |
T |
A |
4: 11,197,220 (GRCm39) |
M174K |
possibly damaging |
Het |
| Ces1a |
A |
G |
8: 93,749,077 (GRCm39) |
Y445H |
probably damaging |
Het |
| Ckb |
A |
G |
12: 111,636,627 (GRCm39) |
V249A |
probably benign |
Het |
| Crybg2 |
TGGAGGAGGAGGAGGAGGAG |
TGGAGGAGGAGGAGGAG |
4: 133,801,837 (GRCm39) |
|
probably benign |
Het |
| Cyp2r1 |
T |
G |
7: 114,151,246 (GRCm39) |
M358L |
possibly damaging |
Het |
| Dnah10 |
T |
C |
5: 124,824,782 (GRCm39) |
I646T |
possibly damaging |
Het |
| Eeig2 |
G |
A |
3: 108,900,001 (GRCm39) |
R116C |
probably damaging |
Het |
| Eps8l1 |
T |
A |
7: 4,480,449 (GRCm39) |
D563E |
probably benign |
Het |
| Fhip1b |
G |
T |
7: 105,037,516 (GRCm39) |
L356I |
probably damaging |
Het |
| Fpr-rs4 |
A |
C |
17: 18,242,613 (GRCm39) |
I207L |
probably benign |
Het |
| Fus |
G |
A |
7: 127,571,935 (GRCm39) |
|
probably benign |
Het |
| Ireb2 |
A |
T |
9: 54,811,460 (GRCm39) |
I755L |
probably benign |
Het |
| Kctd9 |
A |
G |
14: 67,966,185 (GRCm39) |
T101A |
probably damaging |
Het |
| Lcor |
T |
A |
19: 41,570,811 (GRCm39) |
S1R |
possibly damaging |
Het |
| Ltbr |
T |
C |
6: 125,285,024 (GRCm39) |
D292G |
possibly damaging |
Het |
| Med1 |
G |
A |
11: 98,049,230 (GRCm39) |
T507I |
probably damaging |
Het |
| Msh3 |
G |
A |
13: 92,487,939 (GRCm39) |
P93S |
possibly damaging |
Het |
| Or2ag1 |
A |
T |
7: 106,313,585 (GRCm39) |
M101K |
probably damaging |
Het |
| Or8g37 |
A |
C |
9: 39,730,964 (GRCm39) |
T10P |
probably damaging |
Het |
| Paqr5 |
T |
G |
9: 61,880,076 (GRCm39) |
T59P |
probably benign |
Het |
| Pih1d1 |
T |
A |
7: 44,805,753 (GRCm39) |
L74* |
probably null |
Het |
| Prim2 |
T |
C |
1: 33,553,270 (GRCm39) |
T264A |
probably benign |
Het |
| Prss59 |
G |
A |
6: 40,905,452 (GRCm39) |
S68F |
probably damaging |
Het |
| Rasef |
A |
G |
4: 73,652,771 (GRCm39) |
S577P |
probably damaging |
Het |
| Simc1 |
T |
A |
13: 54,673,003 (GRCm39) |
S450R |
probably benign |
Het |
| Tdrd1 |
A |
T |
19: 56,844,483 (GRCm39) |
N796I |
probably damaging |
Het |
|
| Other mutations in Vmn1r214 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01072:Vmn1r214
|
APN |
13 |
23,219,300 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
IGL01759:Vmn1r214
|
APN |
13 |
23,218,662 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02000:Vmn1r214
|
APN |
13 |
23,219,270 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0115:Vmn1r214
|
UTSW |
13 |
23,219,464 (GRCm39) |
nonsense |
probably null |
|
|
R0468:Vmn1r214
|
UTSW |
13 |
23,219,423 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0481:Vmn1r214
|
UTSW |
13 |
23,219,464 (GRCm39) |
nonsense |
probably null |
|
|
R0574:Vmn1r214
|
UTSW |
13 |
23,218,663 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1931:Vmn1r214
|
UTSW |
13 |
23,219,494 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R3893:Vmn1r214
|
UTSW |
13 |
23,218,811 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4013:Vmn1r214
|
UTSW |
13 |
23,219,520 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4014:Vmn1r214
|
UTSW |
13 |
23,219,520 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4015:Vmn1r214
|
UTSW |
13 |
23,219,520 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4670:Vmn1r214
|
UTSW |
13 |
23,219,141 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5091:Vmn1r214
|
UTSW |
13 |
23,219,571 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5817:Vmn1r214
|
UTSW |
13 |
23,219,491 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6504:Vmn1r214
|
UTSW |
13 |
23,219,610 (GRCm39) |
makesense |
probably null |
|
|
R7096:Vmn1r214
|
UTSW |
13 |
23,219,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7141:Vmn1r214
|
UTSW |
13 |
23,218,839 (GRCm39) |
missense |
probably benign |
0.41 |
|
R7293:Vmn1r214
|
UTSW |
13 |
23,218,839 (GRCm39) |
missense |
probably benign |
0.41 |
|
R7759:Vmn1r214
|
UTSW |
13 |
23,218,631 (GRCm39) |
missense |
not run |
|
|
R8805:Vmn1r214
|
UTSW |
13 |
23,219,273 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8810:Vmn1r214
|
UTSW |
13 |
23,219,082 (GRCm39) |
missense |
probably benign |
0.36 |
|
R9383:Vmn1r214
|
UTSW |
13 |
23,219,095 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9660:Vmn1r214
|
UTSW |
13 |
23,219,007 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9711:Vmn1r214
|
UTSW |
13 |
23,218,508 (GRCm39) |
start codon destroyed |
probably null |
0.01 |
|
R9728:Vmn1r214
|
UTSW |
13 |
23,219,007 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0002:Vmn1r214
|
UTSW |
13 |
23,218,971 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1176:Vmn1r214
|
UTSW |
13 |
23,218,665 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACATGCGTCTACCACTGCCTC -3'
(R):5'- CTGAAACACTGCATCTCTCAGGACC -3'
Sequencing Primer
(F):5'- ATACCAACTGTGGTGCTCAG -3'
(R):5'- GGGAGAACAATCCATTTGATTTTCTG -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation