Incidental Mutation 'R6563:Vmn1r175'
| ID |
522537 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r175
|
| Ensembl Gene |
ENSMUSG00000095632 |
| Gene Name |
vomeronasal 1 receptor 175 |
| Synonyms |
Gm6299 |
| MMRRC Submission |
044687-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R6563 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
23507711-23508625 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 23508030 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 199
(I199T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154170
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000166141]
[ENSMUST00000228383]
|
| AlphaFold |
K7N6T9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000166141
AA Change: I199T
PolyPhen 2
Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000126357
Gene: ENSMUSG00000095632
AA Change: I199T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TAS2R
|
8 |
296 |
8.8e-15 |
PFAM |
|
Pfam:7tm_1
|
13 |
285 |
2.5e-6 |
PFAM |
|
Pfam:V1R
|
41 |
295 |
4.4e-22 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228383
AA Change: I199T
PolyPhen 2
Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
| Validation Efficiency |
100% (39/39) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap11a |
A |
T |
2: 113,664,247 (GRCm39) |
C679S |
probably benign |
Het |
| Atg4d |
C |
T |
9: 21,179,756 (GRCm39) |
L235F |
possibly damaging |
Het |
| Cyp2d22 |
A |
T |
15: 82,256,113 (GRCm39) |
W174R |
probably damaging |
Het |
| Cyp4a14 |
T |
A |
4: 115,349,283 (GRCm39) |
H259L |
probably benign |
Het |
| Dennd3 |
A |
T |
15: 73,416,229 (GRCm39) |
H493L |
probably damaging |
Het |
| Dnm1 |
T |
A |
2: 32,202,738 (GRCm39) |
D759V |
probably damaging |
Het |
| Dvl1 |
T |
A |
4: 155,940,710 (GRCm39) |
N443K |
probably damaging |
Het |
| Dync2h1 |
A |
G |
9: 7,120,819 (GRCm39) |
V2156A |
probably benign |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Ermp1 |
T |
C |
19: 29,601,178 (GRCm39) |
D523G |
probably damaging |
Het |
| Fam83c |
A |
G |
2: 155,672,872 (GRCm39) |
V295A |
probably damaging |
Het |
| Gphn |
T |
C |
12: 78,727,170 (GRCm39) |
|
probably null |
Het |
| Irs1 |
T |
A |
1: 82,266,128 (GRCm39) |
N696I |
probably damaging |
Het |
| Kmt5c |
A |
G |
7: 4,745,628 (GRCm39) |
Y96C |
probably damaging |
Het |
| Krt77 |
G |
T |
15: 101,771,358 (GRCm39) |
T315N |
probably damaging |
Het |
| L3mbtl3 |
A |
C |
10: 26,178,761 (GRCm39) |
|
probably null |
Het |
| Lama3 |
A |
T |
18: 12,670,823 (GRCm39) |
Y2409F |
probably damaging |
Het |
| Lrrc9 |
A |
G |
12: 72,533,169 (GRCm39) |
|
probably null |
Het |
| Ltbp4 |
A |
T |
7: 27,008,488 (GRCm39) |
N1273K |
probably damaging |
Het |
| Mfsd13b |
G |
A |
7: 120,594,690 (GRCm39) |
A321T |
probably damaging |
Het |
| Mvb12b |
A |
T |
2: 33,715,128 (GRCm39) |
H167Q |
probably benign |
Het |
| Myo1g |
T |
A |
11: 6,467,146 (GRCm39) |
N230Y |
possibly damaging |
Het |
| Or7a41 |
A |
T |
10: 78,871,051 (GRCm39) |
R140S |
possibly damaging |
Het |
| Prkar2b |
G |
T |
12: 32,043,785 (GRCm39) |
|
probably null |
Het |
| Pwwp2a |
G |
T |
11: 43,596,592 (GRCm39) |
A586S |
possibly damaging |
Het |
| Ryr1 |
A |
G |
7: 28,794,917 (GRCm39) |
V1150A |
possibly damaging |
Het |
| Sh3bgr |
A |
G |
16: 96,007,143 (GRCm39) |
|
probably null |
Het |
| Slk |
T |
C |
19: 47,624,908 (GRCm39) |
|
probably null |
Het |
| Snx3 |
A |
G |
10: 42,402,032 (GRCm39) |
E82G |
possibly damaging |
Het |
| Spring1 |
T |
C |
5: 118,397,047 (GRCm39) |
V92A |
possibly damaging |
Het |
| Srcin1 |
A |
T |
11: 97,425,600 (GRCm39) |
Y486N |
possibly damaging |
Het |
| Tecpr2 |
A |
G |
12: 110,895,521 (GRCm39) |
E336G |
probably benign |
Het |
| Terf2ip |
G |
T |
8: 112,744,834 (GRCm39) |
V384F |
probably damaging |
Het |
| Tnn |
T |
A |
1: 159,915,968 (GRCm39) |
S1250C |
probably damaging |
Het |
| Tspoap1 |
A |
G |
11: 87,667,985 (GRCm39) |
E1263G |
possibly damaging |
Het |
| Tubgcp5 |
A |
G |
7: 55,475,409 (GRCm39) |
R932G |
possibly damaging |
Het |
| Utp25 |
C |
A |
1: 192,800,698 (GRCm39) |
R374L |
probably damaging |
Het |
| Vmn1r225 |
C |
T |
17: 20,722,763 (GRCm39) |
A68V |
probably benign |
Het |
| Vmn2r24 |
A |
T |
6: 123,781,137 (GRCm39) |
N448Y |
possibly damaging |
Het |
|
| Other mutations in Vmn1r175 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02944:Vmn1r175
|
APN |
7 |
23,508,591 (GRCm39) |
missense |
probably damaging |
0.97 |
|
PIT4531001:Vmn1r175
|
UTSW |
7 |
23,508,603 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R1163:Vmn1r175
|
UTSW |
7 |
23,507,937 (GRCm39) |
missense |
probably benign |
0.30 |
|
R1901:Vmn1r175
|
UTSW |
7 |
23,508,218 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1926:Vmn1r175
|
UTSW |
7 |
23,508,466 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1957:Vmn1r175
|
UTSW |
7 |
23,507,808 (GRCm39) |
missense |
probably benign |
0.21 |
|
R2163:Vmn1r175
|
UTSW |
7 |
23,508,352 (GRCm39) |
missense |
probably benign |
0.29 |
|
R2381:Vmn1r175
|
UTSW |
7 |
23,508,093 (GRCm39) |
missense |
probably benign |
0.31 |
|
R3109:Vmn1r175
|
UTSW |
7 |
23,508,393 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3419:Vmn1r175
|
UTSW |
7 |
23,508,075 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3941:Vmn1r175
|
UTSW |
7 |
23,508,393 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4982:Vmn1r175
|
UTSW |
7 |
23,508,494 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R5191:Vmn1r175
|
UTSW |
7 |
23,508,447 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5326:Vmn1r175
|
UTSW |
7 |
23,508,531 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5333:Vmn1r175
|
UTSW |
7 |
23,508,004 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5476:Vmn1r175
|
UTSW |
7 |
23,508,556 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5542:Vmn1r175
|
UTSW |
7 |
23,508,531 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5761:Vmn1r175
|
UTSW |
7 |
23,507,905 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5918:Vmn1r175
|
UTSW |
7 |
23,508,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6163:Vmn1r175
|
UTSW |
7 |
23,508,591 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7476:Vmn1r175
|
UTSW |
7 |
23,507,847 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7616:Vmn1r175
|
UTSW |
7 |
23,508,031 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8100:Vmn1r175
|
UTSW |
7 |
23,508,012 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8157:Vmn1r175
|
UTSW |
7 |
23,508,523 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8699:Vmn1r175
|
UTSW |
7 |
23,508,234 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8744:Vmn1r175
|
UTSW |
7 |
23,508,403 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9595:Vmn1r175
|
UTSW |
7 |
23,508,508 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGTTTGACACGCCTCAACCAG -3'
(R):5'- ACTCTTGCTCCAGGTACCTG -3'
Sequencing Primer
(F):5'- TCAACCAGACCCGAGAGTC -3'
(R):5'- AGCCCCCAAATTTGTGAGG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation