Incidental Mutation 'R9580:Vmn1r39'
ID |
722496 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn1r39
|
Ensembl Gene |
ENSMUSG00000093755 |
Gene Name |
vomeronasal 1 receptor 39 |
Synonyms |
Gm5993 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.105)
|
Stock # |
R9580 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
66781399-66782316 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 66781915 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 134
(N134K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154221
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000226217]
[ENSMUST00000226783]
[ENSMUST00000227285]
[ENSMUST00000227555]
[ENSMUST00000228008]
[ENSMUST00000228651]
[ENSMUST00000228862]
[ENSMUST00000228919]
|
AlphaFold |
G3UWE6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000226217
AA Change: N134K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000226783
AA Change: N134K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000227285
AA Change: N97K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000227555
AA Change: N134K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000228008
AA Change: N97K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000228651
AA Change: N97K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000228862
AA Change: N134K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000228919
AA Change: N97K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adora2b |
T |
C |
11: 62,156,145 (GRCm39) |
M198T |
probably damaging |
Het |
Agbl2 |
A |
G |
2: 90,636,248 (GRCm39) |
T595A |
probably benign |
Het |
Cep89 |
A |
T |
7: 35,102,538 (GRCm39) |
I84F |
possibly damaging |
Het |
Eda |
G |
T |
X: 99,019,775 (GRCm39) |
R130L |
unknown |
Het |
Erp44 |
T |
A |
4: 48,218,187 (GRCm39) |
R161* |
probably null |
Het |
Fcsk |
A |
G |
8: 111,616,813 (GRCm39) |
W446R |
probably damaging |
Het |
Gm12185 |
T |
G |
11: 48,799,192 (GRCm39) |
S434R |
possibly damaging |
Het |
Hmcn2 |
G |
T |
2: 31,294,875 (GRCm39) |
A2555S |
probably benign |
Het |
Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
Ighv1-61 |
A |
G |
12: 115,322,993 (GRCm39) |
S40P |
possibly damaging |
Het |
Kif26b |
C |
T |
1: 178,506,643 (GRCm39) |
Q240* |
probably null |
Het |
Mapkap1 |
C |
T |
2: 34,509,878 (GRCm39) |
T456M |
probably damaging |
Het |
Ncapg2 |
A |
G |
12: 116,424,228 (GRCm39) |
N1137S |
probably damaging |
Het |
Nectin4 |
C |
G |
1: 171,211,324 (GRCm39) |
R283G |
probably damaging |
Het |
Nos2 |
A |
G |
11: 78,828,457 (GRCm39) |
I259V |
probably benign |
Het |
Or2n1d |
A |
T |
17: 38,646,320 (GRCm39) |
T91S |
possibly damaging |
Het |
Or4c119 |
T |
C |
2: 88,987,465 (GRCm39) |
N18S |
probably benign |
Het |
Pgm2 |
A |
T |
5: 64,265,092 (GRCm39) |
N371I |
possibly damaging |
Het |
Ppargc1a |
A |
T |
5: 51,620,139 (GRCm39) |
N733K |
unknown |
Het |
Ptpn5 |
A |
G |
7: 46,732,622 (GRCm39) |
Y345H |
probably damaging |
Het |
Ptprd |
C |
G |
4: 75,872,315 (GRCm39) |
A1134P |
possibly damaging |
Het |
Rbm47 |
A |
C |
5: 66,183,877 (GRCm39) |
M242R |
possibly damaging |
Het |
Slc12a5 |
T |
G |
2: 164,816,896 (GRCm39) |
F140V |
probably damaging |
Het |
Slc22a2 |
G |
T |
17: 12,803,177 (GRCm39) |
V4L |
probably benign |
Het |
Stk26 |
C |
T |
X: 49,930,618 (GRCm39) |
|
probably benign |
Het |
Tas2r105 |
A |
T |
6: 131,663,699 (GRCm39) |
I243K |
probably damaging |
Het |
Tmem126b |
G |
T |
7: 90,118,231 (GRCm39) |
Y216* |
probably null |
Het |
Usp25 |
C |
T |
16: 76,880,682 (GRCm39) |
T681I |
probably benign |
Het |
Vmn1r206 |
C |
T |
13: 22,804,890 (GRCm39) |
A106T |
probably damaging |
Het |
Vmn1r9 |
T |
C |
6: 57,048,812 (GRCm39) |
S296P |
probably benign |
Het |
Zfp97 |
T |
A |
17: 17,365,243 (GRCm39) |
F247L |
probably damaging |
Het |
|
Other mutations in Vmn1r39 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02428:Vmn1r39
|
APN |
6 |
66,781,946 (GRCm39) |
missense |
probably benign |
0.05 |
R0189:Vmn1r39
|
UTSW |
6 |
66,782,181 (GRCm39) |
missense |
probably benign |
0.10 |
R1132:Vmn1r39
|
UTSW |
6 |
66,781,428 (GRCm39) |
missense |
probably benign |
|
R1803:Vmn1r39
|
UTSW |
6 |
66,781,895 (GRCm39) |
missense |
probably benign |
0.00 |
R1839:Vmn1r39
|
UTSW |
6 |
66,782,217 (GRCm39) |
critical splice acceptor site |
probably null |
|
R2966:Vmn1r39
|
UTSW |
6 |
66,781,715 (GRCm39) |
missense |
possibly damaging |
0.94 |
R3747:Vmn1r39
|
UTSW |
6 |
66,781,854 (GRCm39) |
missense |
probably benign |
0.03 |
R3748:Vmn1r39
|
UTSW |
6 |
66,781,854 (GRCm39) |
missense |
probably benign |
0.03 |
R3756:Vmn1r39
|
UTSW |
6 |
66,781,863 (GRCm39) |
missense |
probably damaging |
0.97 |
R3905:Vmn1r39
|
UTSW |
6 |
66,781,479 (GRCm39) |
nonsense |
probably null |
|
R3912:Vmn1r39
|
UTSW |
6 |
66,782,125 (GRCm39) |
missense |
probably benign |
|
R4226:Vmn1r39
|
UTSW |
6 |
66,781,703 (GRCm39) |
missense |
possibly damaging |
0.78 |
R4426:Vmn1r39
|
UTSW |
6 |
66,782,345 (GRCm39) |
splice site |
probably null |
|
R5493:Vmn1r39
|
UTSW |
6 |
66,781,754 (GRCm39) |
missense |
probably damaging |
0.97 |
R6498:Vmn1r39
|
UTSW |
6 |
66,781,841 (GRCm39) |
missense |
probably damaging |
1.00 |
R6944:Vmn1r39
|
UTSW |
6 |
66,782,205 (GRCm39) |
start codon destroyed |
probably null |
0.00 |
R7592:Vmn1r39
|
UTSW |
6 |
66,781,428 (GRCm39) |
missense |
probably benign |
|
R8312:Vmn1r39
|
UTSW |
6 |
66,781,841 (GRCm39) |
missense |
noncoding transcript |
|
R9232:Vmn1r39
|
UTSW |
6 |
66,781,580 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9517:Vmn1r39
|
UTSW |
6 |
66,782,258 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9571:Vmn1r39
|
UTSW |
6 |
66,781,572 (GRCm39) |
missense |
probably benign |
0.37 |
R9629:Vmn1r39
|
UTSW |
6 |
66,781,578 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGATGCTTGCATTGCCTCTGG -3'
(R):5'- GCAACTTCTTACTTAAATAGGGCG -3'
Sequencing Primer
(F):5'- GCCTCTGGTGTCTGAACAAGATAATG -3'
(R):5'- CTTAAATAGGGCGATGAGAGGTCTC -3'
|
Posted On |
2022-08-09 |