Incidental Mutation 'R6498:Vmn1r44'
| ID |
523103 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r44
|
| Ensembl Gene |
ENSMUSG00000068234 |
| Gene Name |
vomeronasal 1 receptor 44 |
| Synonyms |
V1rb4 |
| MMRRC Submission |
044630-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R6498 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
89869126-89871188 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 89870562 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 103
(T103A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154809
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089420]
[ENSMUST00000204656]
[ENSMUST00000226120]
[ENSMUST00000226171]
[ENSMUST00000226345]
[ENSMUST00000226760]
[ENSMUST00000227047]
[ENSMUST00000227456]
[ENSMUST00000228700]
[ENSMUST00000228183]
[ENSMUST00000227625]
[ENSMUST00000227747]
[ENSMUST00000227888]
|
| AlphaFold |
Q9EQ47 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000089420
AA Change: T103A
PolyPhen 2
Score 0.247 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000100706
Gene: ENSMUSG00000068234
AA Change: T103A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TAS2R
|
7 |
305 |
3.6e-10 |
PFAM |
|
Pfam:V1R
|
38 |
302 |
5.6e-149 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204656
AA Change: T103A
PolyPhen 2
Score 0.247 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000145135
Gene: ENSMUSG00000068234
AA Change: T103A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
|
Pfam:V1R
|
38 |
70 |
2.6e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226120
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226171
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226345
AA Change: T103A
PolyPhen 2
Score 0.247 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226760
AA Change: T103A
PolyPhen 2
Score 0.247 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227047
AA Change: T103A
PolyPhen 2
Score 0.247 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227456
AA Change: T103A
PolyPhen 2
Score 0.247 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228700
AA Change: T103A
PolyPhen 2
Score 0.247 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228183
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227625
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227747
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227888
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.4%
- 10x: 96.9%
- 20x: 89.8%
|
| Validation Efficiency |
100% (37/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
T |
G |
11: 110,182,928 (GRCm39) |
N1043T |
possibly damaging |
Het |
| Actn2 |
C |
T |
13: 12,291,359 (GRCm39) |
E682K |
probably damaging |
Het |
| Agtpbp1 |
A |
G |
13: 59,624,854 (GRCm39) |
V833A |
possibly damaging |
Het |
| Arrb2 |
G |
T |
11: 70,330,375 (GRCm39) |
R333L |
probably benign |
Het |
| Atp9b |
C |
T |
18: 80,820,230 (GRCm39) |
S135N |
probably benign |
Het |
| Cep112 |
T |
A |
11: 108,331,357 (GRCm39) |
S135R |
probably benign |
Het |
| D630045J12Rik |
G |
A |
6: 38,124,132 (GRCm39) |
R1607* |
probably null |
Het |
| Duox1 |
A |
T |
2: 122,150,088 (GRCm39) |
S160C |
probably damaging |
Het |
| Eogt |
A |
T |
6: 97,112,174 (GRCm39) |
Y160N |
probably damaging |
Het |
| Exosc10 |
T |
C |
4: 148,657,795 (GRCm39) |
V647A |
probably benign |
Het |
| Fbxo44 |
C |
T |
4: 148,238,882 (GRCm39) |
|
|
Het |
| Fen1 |
G |
T |
19: 10,177,479 (GRCm39) |
R322S |
probably damaging |
Het |
| Gls |
A |
C |
1: 52,259,198 (GRCm39) |
N134K |
probably benign |
Het |
| Hspg2 |
T |
C |
4: 137,235,112 (GRCm39) |
V82A |
possibly damaging |
Het |
| Il33 |
G |
A |
19: 29,927,137 (GRCm39) |
E23K |
probably benign |
Het |
| Macroh2a2 |
C |
A |
10: 61,593,614 (GRCm39) |
V21F |
probably damaging |
Het |
| Map2k5 |
C |
A |
9: 63,193,683 (GRCm39) |
A266S |
possibly damaging |
Het |
| Or13g1 |
T |
C |
7: 85,956,226 (GRCm39) |
I32V |
probably benign |
Het |
| Or2t29 |
T |
A |
11: 58,433,408 (GRCm39) |
N298I |
probably damaging |
Het |
| Or5p61 |
C |
T |
7: 107,758,639 (GRCm39) |
C147Y |
probably benign |
Het |
| Pcdh1 |
G |
A |
18: 38,330,490 (GRCm39) |
P838S |
probably benign |
Het |
| Pcdha5 |
A |
G |
18: 37,095,768 (GRCm39) |
E759G |
possibly damaging |
Het |
| Pclo |
T |
C |
5: 14,719,505 (GRCm39) |
I1214T |
unknown |
Het |
| Per3 |
T |
C |
4: 151,113,662 (GRCm39) |
I299V |
probably benign |
Het |
| Pls1 |
A |
G |
9: 95,636,798 (GRCm39) |
I558T |
probably damaging |
Het |
| Synpo2 |
A |
T |
3: 122,873,881 (GRCm39) |
|
probably null |
Het |
| Sys1 |
G |
A |
2: 164,306,438 (GRCm39) |
A131T |
probably benign |
Het |
| Tekt2 |
A |
G |
4: 126,218,098 (GRCm39) |
L138P |
probably benign |
Het |
| Tmprss12 |
T |
A |
15: 100,183,133 (GRCm39) |
N158K |
probably damaging |
Het |
| Tnrc18 |
A |
T |
5: 142,717,923 (GRCm39) |
M2177K |
unknown |
Het |
| Trim43a |
T |
A |
9: 88,464,395 (GRCm39) |
I102N |
probably damaging |
Het |
| Ugt1a10 |
C |
A |
1: 88,143,862 (GRCm39) |
H361N |
probably damaging |
Het |
| Utrn |
C |
T |
10: 12,317,837 (GRCm39) |
C498Y |
probably benign |
Het |
| Vmn1r39 |
A |
T |
6: 66,781,841 (GRCm39) |
V159D |
probably damaging |
Het |
| Wsb1 |
A |
T |
11: 79,139,315 (GRCm39) |
V127D |
probably damaging |
Het |
| Zfp268 |
T |
A |
4: 145,349,459 (GRCm39) |
C299S |
probably damaging |
Het |
|
| Other mutations in Vmn1r44 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01942:Vmn1r44
|
APN |
6 |
89,870,806 (GRCm39) |
missense |
probably benign |
0.45 |
|
R1401:Vmn1r44
|
UTSW |
6 |
89,870,632 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4171:Vmn1r44
|
UTSW |
6 |
89,870,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4579:Vmn1r44
|
UTSW |
6 |
89,870,915 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R5265:Vmn1r44
|
UTSW |
6 |
89,870,821 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6264:Vmn1r44
|
UTSW |
6 |
89,870,652 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6994:Vmn1r44
|
UTSW |
6 |
89,871,140 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7025:Vmn1r44
|
UTSW |
6 |
89,870,736 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7456:Vmn1r44
|
UTSW |
6 |
89,870,401 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7597:Vmn1r44
|
UTSW |
6 |
89,870,818 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7813:Vmn1r44
|
UTSW |
6 |
89,869,192 (GRCm39) |
splice site |
probably benign |
|
|
R8127:Vmn1r44
|
UTSW |
6 |
89,870,845 (GRCm39) |
missense |
probably benign |
0.29 |
|
R8426:Vmn1r44
|
UTSW |
6 |
89,870,470 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8434:Vmn1r44
|
UTSW |
6 |
89,870,610 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8461:Vmn1r44
|
UTSW |
6 |
89,870,701 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R8680:Vmn1r44
|
UTSW |
6 |
89,870,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8884:Vmn1r44
|
UTSW |
6 |
89,870,458 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9009:Vmn1r44
|
UTSW |
6 |
89,870,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9014:Vmn1r44
|
UTSW |
6 |
89,870,997 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9193:Vmn1r44
|
UTSW |
6 |
89,870,565 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9432:Vmn1r44
|
UTSW |
6 |
89,870,473 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGCATGCTCCTTGGTGAG -3'
(R):5'- TGAGCAGGACTGAGTAACATAC -3'
Sequencing Primer
(F):5'- CATGCTCCTTGGTGAGAACAG -3'
(R):5'- AAATTCTCTGAGGTCAAATTGGGG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation