Incidental Mutation 'R4242:Vmn1r237'
| ID |
320266 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r237
|
| Ensembl Gene |
ENSMUSG00000058030 |
| Gene Name |
vomeronasal 1 receptor 237 |
| Synonyms |
V1rf3 |
| MMRRC Submission |
041059-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R4242 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
21534279-21535148 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 21534925 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 216
(H216R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076531
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077301]
|
| AlphaFold |
Q8R296 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000077301
AA Change: H216R
PolyPhen 2
Score 0.629 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000076531
Gene: ENSMUSG00000058030
AA Change: H216R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TAS2R
|
1 |
289 |
7.1e-17 |
PFAM |
|
Pfam:V1R
|
34 |
289 |
1.9e-34 |
PFAM |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
100% (35/35) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg3 |
C |
T |
5: 105,109,079 (GRCm39) |
R406H |
probably benign |
Het |
| Blcap |
T |
A |
2: 157,402,343 (GRCm39) |
|
probably benign |
Het |
| Chd1 |
C |
T |
17: 15,990,289 (GRCm39) |
R1614* |
probably null |
Het |
| Col6a2 |
C |
T |
10: 76,443,940 (GRCm39) |
|
probably null |
Het |
| Csnk1e |
A |
G |
15: 79,309,095 (GRCm39) |
F277S |
probably damaging |
Het |
| Dock5 |
T |
C |
14: 68,065,939 (GRCm39) |
T355A |
probably benign |
Het |
| Dst |
G |
A |
1: 34,045,297 (GRCm39) |
C148Y |
possibly damaging |
Het |
| Faim2 |
T |
A |
15: 99,398,082 (GRCm39) |
I289F |
probably damaging |
Het |
| Gm4841 |
A |
G |
18: 60,403,755 (GRCm39) |
S113P |
probably benign |
Het |
| Heatr5b |
A |
G |
17: 79,064,351 (GRCm39) |
S1879P |
probably benign |
Het |
| Igll1 |
C |
A |
16: 16,681,564 (GRCm39) |
G64C |
probably benign |
Het |
| Klhdc7a |
G |
A |
4: 139,694,032 (GRCm39) |
P305L |
probably benign |
Het |
| Klhl13 |
T |
A |
X: 23,181,414 (GRCm39) |
D2V |
probably damaging |
Het |
| Kmt2e |
T |
C |
5: 23,707,820 (GRCm39) |
|
probably benign |
Het |
| Lrmda |
C |
A |
14: 22,077,303 (GRCm39) |
Y13* |
probably null |
Het |
| Mad2l1bp |
T |
C |
17: 46,463,913 (GRCm39) |
E37G |
possibly damaging |
Het |
| Mphosph8 |
T |
C |
14: 56,911,771 (GRCm39) |
S265P |
probably benign |
Het |
| Mpl |
T |
A |
4: 118,313,968 (GRCm39) |
D99V |
probably damaging |
Het |
| Notch3 |
C |
T |
17: 32,362,719 (GRCm39) |
G1302D |
possibly damaging |
Het |
| Odaph |
A |
G |
5: 92,142,749 (GRCm39) |
I104V |
probably benign |
Het |
| Or10a48 |
A |
G |
7: 108,424,666 (GRCm39) |
V180A |
probably benign |
Het |
| Or2a25 |
A |
T |
6: 42,888,480 (GRCm39) |
I8F |
possibly damaging |
Het |
| Pde6c |
G |
A |
19: 38,151,293 (GRCm39) |
G608S |
probably damaging |
Het |
| Phf20 |
A |
G |
2: 156,149,374 (GRCm39) |
|
probably benign |
Het |
| Pkdrej |
C |
T |
15: 85,702,345 (GRCm39) |
R1197Q |
probably damaging |
Het |
| Prex2 |
C |
T |
1: 11,226,528 (GRCm39) |
H764Y |
probably benign |
Het |
| Rtel1 |
T |
C |
2: 180,991,727 (GRCm39) |
F375S |
probably damaging |
Het |
| Spanxn4 |
T |
C |
12: 62,734,983 (GRCm39) |
|
noncoding transcript |
Het |
| Taf1 |
T |
C |
X: 100,588,109 (GRCm39) |
I457T |
probably benign |
Het |
| Tle3 |
A |
T |
9: 61,314,705 (GRCm39) |
M233L |
probably benign |
Het |
| Trpv3 |
T |
C |
11: 73,168,649 (GRCm39) |
I72T |
probably benign |
Het |
| Xpnpep3 |
T |
A |
15: 81,311,857 (GRCm39) |
F188I |
probably benign |
Het |
| Zfp69 |
G |
A |
4: 120,791,672 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Vmn1r237 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01300:Vmn1r237
|
APN |
17 |
21,534,337 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02746:Vmn1r237
|
APN |
17 |
21,534,480 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
IGL03112:Vmn1r237
|
APN |
17 |
21,534,368 (GRCm39) |
nonsense |
probably null |
|
|
IGL03351:Vmn1r237
|
APN |
17 |
21,535,099 (GRCm39) |
missense |
probably benign |
0.06 |
|
BB009:Vmn1r237
|
UTSW |
17 |
21,534,725 (GRCm39) |
missense |
probably benign |
0.01 |
|
BB019:Vmn1r237
|
UTSW |
17 |
21,534,725 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0478:Vmn1r237
|
UTSW |
17 |
21,535,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0514:Vmn1r237
|
UTSW |
17 |
21,534,932 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R0616:Vmn1r237
|
UTSW |
17 |
21,534,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0865:Vmn1r237
|
UTSW |
17 |
21,534,976 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1590:Vmn1r237
|
UTSW |
17 |
21,534,301 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3022:Vmn1r237
|
UTSW |
17 |
21,534,709 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4241:Vmn1r237
|
UTSW |
17 |
21,534,925 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R4646:Vmn1r237
|
UTSW |
17 |
21,534,400 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5144:Vmn1r237
|
UTSW |
17 |
21,534,688 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R5229:Vmn1r237
|
UTSW |
17 |
21,534,633 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5334:Vmn1r237
|
UTSW |
17 |
21,534,942 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5800:Vmn1r237
|
UTSW |
17 |
21,535,069 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5898:Vmn1r237
|
UTSW |
17 |
21,534,813 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6190:Vmn1r237
|
UTSW |
17 |
21,534,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6472:Vmn1r237
|
UTSW |
17 |
21,534,616 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6811:Vmn1r237
|
UTSW |
17 |
21,534,648 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7932:Vmn1r237
|
UTSW |
17 |
21,534,725 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8008:Vmn1r237
|
UTSW |
17 |
21,534,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8086:Vmn1r237
|
UTSW |
17 |
21,534,509 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R9568:Vmn1r237
|
UTSW |
17 |
21,534,777 (GRCm39) |
missense |
probably benign |
|
|
R9631:Vmn1r237
|
UTSW |
17 |
21,534,660 (GRCm39) |
missense |
probably benign |
0.28 |
|
X0011:Vmn1r237
|
UTSW |
17 |
21,534,317 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCCATGGACATGAGAGCAAG -3'
(R):5'- CACAGTTGGGAAACATGCAG -3'
Sequencing Primer
(F):5'- CAATAGGAACATTACACGCCTAAGGG -3'
(R):5'- GTAACTACTGAAGCCATGTTCAC -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation