Incidental Mutation 'R3548:Vmn1r50'
| ID |
268305 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r50
|
| Ensembl Gene |
ENSMUSG00000094553 |
| Gene Name |
vomeronasal 1 receptor 50 |
| Synonyms |
V1rb1, VN2 |
| MMRRC Submission |
040667-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R3548 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
90084257-90085189 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 90084476 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 74
(F74I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154560
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081706]
[ENSMUST00000089417]
[ENSMUST00000226577]
|
| AlphaFold |
Q9EP51 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000081706
AA Change: F74I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000080407
Gene: ENSMUSG00000094553
AA Change: F74I
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
|
Pfam:V1R
|
38 |
302 |
1e-137 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000089417
AA Change: F74I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000100705
Gene: ENSMUSG00000094553
AA Change: F74I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V1R
|
39 |
303 |
9.8e-139 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000226577
AA Change: F74I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 92.8%
|
| Validation Efficiency |
97% (35/36) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amph |
C |
A |
13: 19,287,129 (GRCm39) |
H279Q |
probably damaging |
Het |
| Ankrd28 |
A |
G |
14: 31,437,217 (GRCm39) |
L646S |
probably benign |
Het |
| Bmal1 |
A |
T |
7: 112,912,752 (GRCm39) |
I610F |
probably damaging |
Het |
| Celf3 |
T |
G |
3: 94,395,845 (GRCm39) |
C304G |
probably damaging |
Het |
| Chrnb2 |
T |
A |
3: 89,668,898 (GRCm39) |
Y139F |
probably benign |
Het |
| Clcc1 |
T |
A |
3: 108,575,429 (GRCm39) |
C169S |
probably benign |
Het |
| Clip1 |
A |
G |
5: 123,769,141 (GRCm39) |
L532P |
probably damaging |
Het |
| Cr2 |
A |
T |
1: 194,838,196 (GRCm39) |
C1089* |
probably null |
Het |
| Dnah10 |
A |
T |
5: 124,824,694 (GRCm39) |
I617F |
possibly damaging |
Het |
| F12 |
T |
C |
13: 55,565,950 (GRCm39) |
N132D |
probably benign |
Het |
| Fhit |
T |
C |
14: 9,870,095 (GRCm38) |
T125A |
probably benign |
Het |
| Frs3 |
T |
G |
17: 48,014,561 (GRCm39) |
I418S |
probably damaging |
Het |
| Gpr149 |
A |
T |
3: 62,502,549 (GRCm39) |
C436S |
probably benign |
Het |
| Igsf10 |
C |
A |
3: 59,243,935 (GRCm39) |
R133L |
probably damaging |
Het |
| Il17rb |
A |
G |
14: 29,730,729 (GRCm39) |
|
probably null |
Het |
| Kdm1b |
C |
T |
13: 47,216,553 (GRCm39) |
R308W |
probably damaging |
Het |
| Khdc4 |
A |
G |
3: 88,600,443 (GRCm39) |
|
probably benign |
Het |
| Mtus2 |
C |
A |
5: 148,232,316 (GRCm39) |
H120Q |
probably damaging |
Het |
| Muc6 |
G |
A |
7: 141,218,313 (GRCm39) |
S2120F |
possibly damaging |
Het |
| Ncf1 |
T |
A |
5: 134,255,463 (GRCm39) |
K143* |
probably null |
Het |
| Nes |
C |
A |
3: 87,880,429 (GRCm39) |
|
probably benign |
Het |
| Nid2 |
T |
A |
14: 19,813,779 (GRCm39) |
Y195N |
probably damaging |
Het |
| Nlrp9c |
A |
T |
7: 26,070,876 (GRCm39) |
C790S |
probably damaging |
Het |
| Or5b12 |
A |
T |
19: 12,897,031 (GRCm39) |
I214N |
probably benign |
Het |
| Phf24 |
T |
G |
4: 42,937,879 (GRCm39) |
Y85* |
probably null |
Het |
| Pycr1 |
T |
C |
11: 120,533,072 (GRCm39) |
S33G |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Sirt2 |
A |
G |
7: 28,467,096 (GRCm39) |
E19G |
probably damaging |
Het |
| Sort1 |
T |
C |
3: 108,245,225 (GRCm39) |
V359A |
possibly damaging |
Het |
| Tnni1 |
A |
G |
1: 135,732,791 (GRCm39) |
|
probably null |
Het |
| Ube2q1 |
T |
A |
3: 89,688,383 (GRCm39) |
M183K |
probably damaging |
Het |
|
| Other mutations in Vmn1r50 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02177:Vmn1r50
|
APN |
6 |
90,085,139 (GRCm39) |
missense |
probably benign |
|
|
IGL02383:Vmn1r50
|
APN |
6 |
90,084,461 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL03304:Vmn1r50
|
APN |
6 |
90,084,625 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03412:Vmn1r50
|
APN |
6 |
90,085,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0032:Vmn1r50
|
UTSW |
6 |
90,084,782 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0504:Vmn1r50
|
UTSW |
6 |
90,084,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2191:Vmn1r50
|
UTSW |
6 |
90,085,121 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4668:Vmn1r50
|
UTSW |
6 |
90,084,513 (GRCm39) |
missense |
probably benign |
0.44 |
|
R4763:Vmn1r50
|
UTSW |
6 |
90,085,062 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5238:Vmn1r50
|
UTSW |
6 |
90,084,465 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R7002:Vmn1r50
|
UTSW |
6 |
90,084,819 (GRCm39) |
missense |
probably benign |
|
|
R7172:Vmn1r50
|
UTSW |
6 |
90,084,386 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8459:Vmn1r50
|
UTSW |
6 |
90,084,235 (GRCm39) |
start gained |
probably benign |
|
|
R8478:Vmn1r50
|
UTSW |
6 |
90,085,071 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8985:Vmn1r50
|
UTSW |
6 |
90,085,017 (GRCm39) |
missense |
probably benign |
0.26 |
|
R9096:Vmn1r50
|
UTSW |
6 |
90,085,022 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9097:Vmn1r50
|
UTSW |
6 |
90,085,022 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1177:Vmn1r50
|
UTSW |
6 |
90,084,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGCTTCCTACCCAGATACAATG -3'
(R):5'- AGGCACCTGAGATGTGATGG -3'
Sequencing Primer
(F):5'- TTCCTACCCAGATACAATGAGTAAAG -3'
(R):5'- CCTGAGATGTGATGGGGAGATTTATG -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation