Incidental Mutation 'R1239:Vmn1r16'
| ID |
151877 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r16
|
| Ensembl Gene |
ENSMUSG00000115792 |
| Gene Name |
vomeronasal 1 receptor 16 |
| Synonyms |
V1rc29 |
| MMRRC Submission |
039306-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.111)
|
| Stock # |
R1239 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
57297724-57300620 bp(-) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
C to T
at 57300618 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 1
(M1I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154643
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000177267]
[ENSMUST00000227168]
[ENSMUST00000227283]
[ENSMUST00000228356]
|
| AlphaFold |
K7N775 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000177267
AA Change: M1I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000134873
Gene: ENSMUSG00000093523
AA Change: M1I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V1R
|
28 |
293 |
3.4e-57 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000227168
AA Change: M1I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000227283
AA Change: M1I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000228356
AA Change: M1I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.1%
|
| Validation Efficiency |
98% (44/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn3 |
C |
T |
19: 4,915,483 (GRCm39) |
|
probably benign |
Het |
| Adcy8 |
G |
T |
15: 64,587,911 (GRCm39) |
R959S |
probably damaging |
Het |
| Ank1 |
A |
G |
8: 23,586,171 (GRCm39) |
N455D |
probably damaging |
Het |
| Ankrd17 |
T |
C |
5: 90,436,535 (GRCm39) |
T589A |
probably damaging |
Het |
| Cacna1c |
C |
T |
6: 118,589,586 (GRCm39) |
R1446H |
probably damaging |
Het |
| Celsr1 |
G |
T |
15: 85,863,347 (GRCm39) |
N1228K |
probably damaging |
Het |
| Ces4a |
T |
C |
8: 105,876,130 (GRCm39) |
L557P |
probably damaging |
Het |
| Chd1l |
C |
T |
3: 97,490,047 (GRCm39) |
E503K |
probably benign |
Het |
| Clba1 |
A |
G |
12: 112,773,123 (GRCm39) |
R39G |
probably benign |
Het |
| Col27a1 |
T |
C |
4: 63,237,152 (GRCm39) |
|
probably benign |
Het |
| Cplx2 |
G |
T |
13: 54,527,415 (GRCm39) |
A100S |
probably damaging |
Het |
| Cpsf6 |
G |
A |
10: 117,197,248 (GRCm39) |
|
probably benign |
Het |
| Cyp1a2 |
A |
G |
9: 57,589,050 (GRCm39) |
F255L |
probably benign |
Het |
| Dnajc6 |
T |
C |
4: 101,492,313 (GRCm39) |
Y783H |
probably damaging |
Het |
| E230025N22Rik |
T |
C |
18: 36,818,528 (GRCm39) |
I434V |
probably damaging |
Het |
| Ermap |
T |
C |
4: 119,046,122 (GRCm39) |
K3E |
probably benign |
Het |
| Gatd3a |
A |
G |
10: 78,004,761 (GRCm39) |
|
probably benign |
Het |
| Gstm2 |
G |
A |
3: 107,891,344 (GRCm39) |
L125F |
possibly damaging |
Het |
| Hk2 |
C |
T |
6: 82,726,289 (GRCm39) |
G58R |
probably damaging |
Het |
| Jpt2 |
T |
C |
17: 25,179,585 (GRCm39) |
M1V |
probably null |
Het |
| Matcap2 |
GTTCTTC |
GTTC |
9: 22,335,995 (GRCm39) |
|
probably benign |
Het |
| Mgmt |
T |
C |
7: 136,729,786 (GRCm39) |
F200S |
probably benign |
Het |
| Mug2 |
T |
G |
6: 122,058,637 (GRCm39) |
|
probably benign |
Het |
| Or2ad1 |
C |
T |
13: 21,326,337 (GRCm39) |
V297I |
probably benign |
Het |
| Or5an11 |
G |
T |
19: 12,246,340 (GRCm39) |
V249F |
probably damaging |
Het |
| Or5b109 |
G |
A |
19: 13,212,040 (GRCm39) |
C142Y |
possibly damaging |
Het |
| Parp14 |
G |
A |
16: 35,677,130 (GRCm39) |
A946V |
probably benign |
Het |
| Phc3 |
A |
G |
3: 30,968,279 (GRCm39) |
V886A |
probably damaging |
Het |
| Plcg2 |
T |
A |
8: 118,282,783 (GRCm39) |
V88D |
probably benign |
Het |
| Podxl2 |
C |
T |
6: 88,826,965 (GRCm39) |
V50I |
probably benign |
Het |
| Rap1gap |
G |
T |
4: 137,445,307 (GRCm39) |
M329I |
probably damaging |
Het |
| Rbm5 |
A |
G |
9: 107,630,165 (GRCm39) |
|
probably benign |
Het |
| Robo1 |
A |
G |
16: 72,821,430 (GRCm39) |
|
probably null |
Het |
| Ryr2 |
A |
T |
13: 11,897,929 (GRCm39) |
|
probably null |
Het |
| Skida1 |
A |
C |
2: 18,052,128 (GRCm39) |
|
probably benign |
Het |
| Tecta |
A |
G |
9: 42,243,781 (GRCm39) |
F2024L |
probably damaging |
Het |
| Trim43a |
GATTTATTTATTTATTTATTTATTTATTTATTTATTTATT |
GATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT |
9: 88,465,042 (GRCm39) |
|
probably benign |
Het |
| Zbtb39 |
G |
T |
10: 127,578,938 (GRCm39) |
G504V |
probably damaging |
Het |
| Zfp1004 |
T |
C |
2: 150,033,891 (GRCm39) |
Y71H |
possibly damaging |
Het |
| Zfp106 |
A |
T |
2: 120,364,075 (GRCm39) |
N777K |
probably damaging |
Het |
|
| Other mutations in Vmn1r16 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01350:Vmn1r16
|
APN |
6 |
57,299,716 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
IGL02027:Vmn1r16
|
APN |
6 |
57,300,044 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
IGL02804:Vmn1r16
|
APN |
6 |
57,300,467 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL03329:Vmn1r16
|
APN |
6 |
57,300,603 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03392:Vmn1r16
|
APN |
6 |
57,299,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
I1329:Vmn1r16
|
UTSW |
6 |
57,300,519 (GRCm39) |
missense |
probably damaging |
0.97 |
|
PIT4581001:Vmn1r16
|
UTSW |
6 |
57,299,858 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0750:Vmn1r16
|
UTSW |
6 |
57,299,812 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1137:Vmn1r16
|
UTSW |
6 |
57,300,221 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1796:Vmn1r16
|
UTSW |
6 |
57,300,256 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1858:Vmn1r16
|
UTSW |
6 |
57,299,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1895:Vmn1r16
|
UTSW |
6 |
57,299,885 (GRCm39) |
missense |
probably benign |
0.31 |
|
R1946:Vmn1r16
|
UTSW |
6 |
57,299,885 (GRCm39) |
missense |
probably benign |
0.31 |
|
R3832:Vmn1r16
|
UTSW |
6 |
57,300,212 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4801:Vmn1r16
|
UTSW |
6 |
57,300,175 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4802:Vmn1r16
|
UTSW |
6 |
57,300,175 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6658:Vmn1r16
|
UTSW |
6 |
57,300,091 (GRCm39) |
nonsense |
probably null |
|
|
R6981:Vmn1r16
|
UTSW |
6 |
57,300,473 (GRCm39) |
missense |
probably benign |
0.30 |
|
R6991:Vmn1r16
|
UTSW |
6 |
57,299,869 (GRCm39) |
nonsense |
probably null |
|
|
R7915:Vmn1r16
|
UTSW |
6 |
57,300,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8214:Vmn1r16
|
UTSW |
6 |
57,300,424 (GRCm39) |
missense |
noncoding transcript |
|
|
R8459:Vmn1r16
|
UTSW |
6 |
57,300,347 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8531:Vmn1r16
|
UTSW |
6 |
57,299,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8676:Vmn1r16
|
UTSW |
6 |
57,299,814 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9096:Vmn1r16
|
UTSW |
6 |
57,300,250 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9097:Vmn1r16
|
UTSW |
6 |
57,300,250 (GRCm39) |
missense |
probably benign |
0.02 |
|
X0061:Vmn1r16
|
UTSW |
6 |
57,300,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCCTCCAGTGAGGAACATTATT -3'
(R):5'- TGAAATTCCCTCTCACAAAGGTG -3'
Sequencing Primer
(F):5'- GTGAACAAAGGTCAGTTGAC -3'
(R):5'- GTGTTGGGATGGGGACTAAC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation