Incidental Mutation 'R6629:Vmn1r34'
| ID |
524984 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r34
|
| Ensembl Gene |
ENSMUSG00000091012 |
| Gene Name |
vomeronasal 1 receptor 34 |
| Synonyms |
Gm5991 |
| MMRRC Submission |
044751-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R6629 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
66613807-66614736 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 66614499 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 80
(F80I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153720
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074381]
[ENSMUST00000226262]
[ENSMUST00000226910]
[ENSMUST00000226999]
[ENSMUST00000227332]
[ENSMUST00000228498]
[ENSMUST00000228647]
|
| AlphaFold |
G3XA52 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074381
AA Change: F80I
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000132900
Gene: ENSMUSG00000091012
AA Change: F80I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V1R
|
28 |
293 |
2.2e-54 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226262
AA Change: F80I
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226910
AA Change: F80I
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226999
AA Change: F80I
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227332
AA Change: F80I
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228498
AA Change: F80I
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228647
AA Change: F80I
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.8%
|
| Validation Efficiency |
97% (38/39) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atxn3 |
A |
T |
12: 101,903,665 (GRCm39) |
M180K |
probably benign |
Het |
| Bnip2 |
G |
T |
9: 69,909,393 (GRCm39) |
R236L |
probably null |
Het |
| Boc |
T |
C |
16: 44,312,724 (GRCm39) |
D582G |
probably benign |
Het |
| Cacul1 |
T |
C |
19: 60,568,805 (GRCm39) |
S118G |
probably benign |
Het |
| Ccdc192 |
T |
C |
18: 57,863,852 (GRCm39) |
S219P |
possibly damaging |
Het |
| Cpa2 |
A |
T |
6: 30,554,193 (GRCm39) |
D271V |
probably damaging |
Het |
| Cubn |
G |
A |
2: 13,435,683 (GRCm39) |
T1091M |
probably damaging |
Het |
| Dlgap2 |
A |
G |
8: 14,881,465 (GRCm39) |
T846A |
probably benign |
Het |
| Eif5 |
G |
T |
12: 111,510,042 (GRCm39) |
A329S |
probably damaging |
Het |
| Fam136b-ps |
G |
A |
15: 31,276,962 (GRCm39) |
|
probably benign |
Het |
| Gnrhr |
A |
G |
5: 86,330,168 (GRCm39) |
V284A |
probably benign |
Het |
| Grin3a |
A |
G |
4: 49,844,991 (GRCm39) |
S31P |
probably damaging |
Het |
| Hectd2 |
T |
C |
19: 36,592,938 (GRCm39) |
L701P |
probably damaging |
Het |
| Hook1 |
C |
T |
4: 95,889,507 (GRCm39) |
T241I |
probably benign |
Het |
| Kif5a |
A |
G |
10: 127,084,123 (GRCm39) |
V52A |
probably damaging |
Het |
| Lasp1 |
T |
A |
11: 97,697,722 (GRCm39) |
Y11* |
probably null |
Het |
| Meltf |
A |
G |
16: 31,703,894 (GRCm39) |
Y207C |
probably damaging |
Het |
| Mllt3 |
ACTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCTACTACTACTGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCT |
ACTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCTACTACTACTGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCT |
4: 87,759,504 (GRCm39) |
|
probably benign |
Het |
| Nek1 |
A |
G |
8: 61,507,367 (GRCm39) |
|
probably null |
Het |
| Notch2 |
C |
A |
3: 98,028,197 (GRCm39) |
N969K |
possibly damaging |
Het |
| Or4c116 |
T |
A |
2: 88,942,506 (GRCm39) |
M117L |
probably benign |
Het |
| Pcnx2 |
C |
T |
8: 126,617,851 (GRCm39) |
G135R |
probably benign |
Het |
| Pla2g4f |
A |
T |
2: 120,138,723 (GRCm39) |
L242Q |
probably damaging |
Het |
| Plcxd2 |
T |
G |
16: 45,785,470 (GRCm39) |
T312P |
probably damaging |
Het |
| Prpf4 |
G |
A |
4: 62,336,097 (GRCm39) |
V275I |
possibly damaging |
Het |
| Prpf8 |
G |
A |
11: 75,386,252 (GRCm39) |
|
probably null |
Het |
| Pxn |
T |
C |
5: 115,692,121 (GRCm39) |
L401P |
probably damaging |
Het |
| Rab44 |
A |
T |
17: 29,354,754 (GRCm39) |
|
probably benign |
Het |
| Rfx6 |
C |
A |
10: 51,601,586 (GRCm39) |
T669K |
probably benign |
Het |
| Rgs16 |
A |
G |
1: 153,619,420 (GRCm39) |
N142S |
probably damaging |
Het |
| Rhobtb1 |
A |
G |
10: 69,106,146 (GRCm39) |
E237G |
possibly damaging |
Het |
| Rsbn1 |
A |
C |
3: 103,835,757 (GRCm39) |
D265A |
probably damaging |
Het |
| Rufy4 |
A |
G |
1: 74,171,526 (GRCm39) |
|
probably null |
Het |
| Slc4a1 |
C |
A |
11: 102,252,048 (GRCm39) |
E19* |
probably null |
Het |
| Tctn1 |
A |
G |
5: 122,380,731 (GRCm39) |
S526P |
probably damaging |
Het |
| Tspear |
A |
T |
10: 77,706,343 (GRCm39) |
H371L |
probably benign |
Het |
| Wdr75 |
G |
A |
1: 45,851,216 (GRCm39) |
S264N |
probably damaging |
Het |
| Zfp652 |
A |
T |
11: 95,654,616 (GRCm39) |
N340Y |
probably damaging |
Het |
| Zp3 |
A |
G |
5: 136,016,190 (GRCm39) |
T306A |
probably benign |
Het |
|
| Other mutations in Vmn1r34 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00974:Vmn1r34
|
APN |
6 |
66,614,639 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL01322:Vmn1r34
|
APN |
6 |
66,613,899 (GRCm39) |
nonsense |
probably null |
|
|
IGL01866:Vmn1r34
|
APN |
6 |
66,614,373 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02389:Vmn1r34
|
APN |
6 |
66,614,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03356:Vmn1r34
|
APN |
6 |
66,613,970 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0508:Vmn1r34
|
UTSW |
6 |
66,614,392 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0601:Vmn1r34
|
UTSW |
6 |
66,614,648 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1381:Vmn1r34
|
UTSW |
6 |
66,613,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1605:Vmn1r34
|
UTSW |
6 |
66,613,932 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1765:Vmn1r34
|
UTSW |
6 |
66,614,480 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2022:Vmn1r34
|
UTSW |
6 |
66,614,385 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R3878:Vmn1r34
|
UTSW |
6 |
66,614,552 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4023:Vmn1r34
|
UTSW |
6 |
66,614,688 (GRCm39) |
missense |
probably benign |
|
|
R4024:Vmn1r34
|
UTSW |
6 |
66,614,688 (GRCm39) |
missense |
probably benign |
|
|
R4025:Vmn1r34
|
UTSW |
6 |
66,614,688 (GRCm39) |
missense |
probably benign |
|
|
R4026:Vmn1r34
|
UTSW |
6 |
66,614,688 (GRCm39) |
missense |
probably benign |
|
|
R4385:Vmn1r34
|
UTSW |
6 |
66,614,123 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5274:Vmn1r34
|
UTSW |
6 |
66,614,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6182:Vmn1r34
|
UTSW |
6 |
66,614,312 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7143:Vmn1r34
|
UTSW |
6 |
66,614,648 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7689:Vmn1r34
|
UTSW |
6 |
66,613,994 (GRCm39) |
nonsense |
probably null |
|
|
R7956:Vmn1r34
|
UTSW |
6 |
66,614,777 (GRCm39) |
start gained |
probably benign |
|
|
R8031:Vmn1r34
|
UTSW |
6 |
66,614,165 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9570:Vmn1r34
|
UTSW |
6 |
66,614,718 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0066:Vmn1r34
|
UTSW |
6 |
66,614,459 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1176:Vmn1r34
|
UTSW |
6 |
66,614,109 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCATAGAAGATCCTGTTAATGCTG -3'
(R):5'- ATCCTTTATTTCCAAGCTGGGC -3'
Sequencing Primer
(F):5'- GAAGATCCTGTTAATGCTGAATGAC -3'
(R):5'- GCTTGGAGCTATGGCCAATATATTTC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation