Incidental Mutation 'R5577:Vmn2r43'
ID |
457965 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r43
|
Ensembl Gene |
ENSMUSG00000053720 |
Gene Name |
vomeronasal 2, receptor 43 |
Synonyms |
EC2-V2R |
MMRRC Submission |
043132-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.103)
|
Stock # |
R5577 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
8247347-8263598 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 8247811 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 784
(H784R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000069647
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066317]
|
AlphaFold |
Q80Z08 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000066317
AA Change: H784R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000069647 Gene: ENSMUSG00000053720 AA Change: H784R
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
Pfam:ANF_receptor
|
73 |
453 |
5.1e-35 |
PFAM |
Pfam:NCD3G
|
496 |
549 |
7.7e-21 |
PFAM |
Pfam:7tm_3
|
582 |
817 |
3e-56 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9130023H24Rik |
A |
C |
7: 127,835,826 (GRCm39) |
Y256D |
probably damaging |
Het |
Acr |
C |
A |
15: 89,458,441 (GRCm39) |
T374K |
probably benign |
Het |
Akt2 |
G |
A |
7: 27,335,731 (GRCm39) |
G335R |
probably damaging |
Het |
Ccn3 |
T |
A |
15: 54,615,897 (GRCm39) |
I354N |
possibly damaging |
Het |
Cd177 |
A |
T |
7: 24,444,562 (GRCm39) |
F673Y |
probably damaging |
Het |
Clmn |
G |
T |
12: 104,743,329 (GRCm39) |
S879R |
probably damaging |
Het |
Csrp3 |
T |
C |
7: 48,489,225 (GRCm39) |
H19R |
possibly damaging |
Het |
Dmkn |
T |
C |
7: 30,463,971 (GRCm39) |
S137P |
probably damaging |
Het |
Eno1 |
C |
A |
4: 150,331,067 (GRCm39) |
Y236* |
probably null |
Het |
Enpp7 |
T |
A |
11: 118,882,953 (GRCm39) |
N342K |
probably benign |
Het |
Fancm |
T |
A |
12: 65,177,185 (GRCm39) |
|
probably benign |
Het |
Fshr |
A |
T |
17: 89,293,351 (GRCm39) |
D442E |
probably benign |
Het |
Gm3898 |
T |
A |
9: 43,741,362 (GRCm39) |
|
noncoding transcript |
Het |
Hdac7 |
A |
T |
15: 97,709,336 (GRCm39) |
S43T |
probably benign |
Het |
Herc1 |
T |
C |
9: 66,389,263 (GRCm39) |
C3927R |
probably damaging |
Het |
Klc4 |
G |
T |
17: 46,946,355 (GRCm39) |
A490D |
probably damaging |
Het |
Lcn9 |
T |
A |
2: 25,713,663 (GRCm39) |
I63N |
probably damaging |
Het |
Lgalsl |
G |
A |
11: 20,779,316 (GRCm39) |
Q110* |
probably null |
Het |
Lrp1b |
A |
T |
2: 40,765,135 (GRCm39) |
M2783K |
possibly damaging |
Het |
Lrrk2 |
A |
T |
15: 91,649,948 (GRCm39) |
Y1695F |
probably damaging |
Het |
Myo1e |
G |
A |
9: 70,277,753 (GRCm39) |
E817K |
probably benign |
Het |
Nav3 |
A |
T |
10: 109,605,264 (GRCm39) |
D936E |
probably damaging |
Het |
Necab3 |
T |
C |
2: 154,387,076 (GRCm39) |
|
probably null |
Het |
Nlrp1a |
T |
A |
11: 70,990,400 (GRCm39) |
I951F |
probably damaging |
Het |
Or5v1 |
T |
A |
17: 37,810,493 (GRCm39) |
I317K |
probably benign |
Het |
Or8b52 |
A |
G |
9: 38,576,297 (GRCm39) |
I281T |
possibly damaging |
Het |
Ppp2r5d |
T |
C |
17: 46,998,901 (GRCm39) |
S54G |
probably benign |
Het |
Prdx6 |
A |
G |
1: 161,071,255 (GRCm39) |
S146P |
probably damaging |
Het |
Sec24a |
A |
T |
11: 51,625,448 (GRCm39) |
H258Q |
probably benign |
Het |
Sec31a |
T |
C |
5: 100,550,133 (GRCm39) |
T194A |
possibly damaging |
Het |
Sqstm1 |
T |
C |
11: 50,098,266 (GRCm39) |
I167V |
probably benign |
Het |
Tas1r3 |
T |
C |
4: 155,946,522 (GRCm39) |
E361G |
probably benign |
Het |
Tlr1 |
T |
A |
5: 65,083,428 (GRCm39) |
Q383L |
possibly damaging |
Het |
Trappc8 |
G |
C |
18: 20,969,836 (GRCm39) |
Y1051* |
probably null |
Het |
Vmn2r2 |
T |
A |
3: 64,024,416 (GRCm39) |
M722L |
probably benign |
Het |
Zfp534 |
T |
G |
4: 147,759,173 (GRCm39) |
K499Q |
probably damaging |
Het |
|
Other mutations in Vmn2r43 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01756:Vmn2r43
|
APN |
7 |
8,258,583 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01777:Vmn2r43
|
APN |
7 |
8,258,272 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02096:Vmn2r43
|
APN |
7 |
8,260,512 (GRCm39) |
splice site |
probably benign |
|
IGL02429:Vmn2r43
|
APN |
7 |
8,258,551 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03026:Vmn2r43
|
APN |
7 |
8,258,096 (GRCm39) |
missense |
probably benign |
0.05 |
IGL03155:Vmn2r43
|
APN |
7 |
8,258,068 (GRCm39) |
missense |
possibly damaging |
0.91 |
R1722:Vmn2r43
|
UTSW |
7 |
8,258,067 (GRCm39) |
missense |
probably damaging |
0.99 |
R1813:Vmn2r43
|
UTSW |
7 |
8,258,055 (GRCm39) |
missense |
possibly damaging |
0.81 |
R1896:Vmn2r43
|
UTSW |
7 |
8,258,055 (GRCm39) |
missense |
possibly damaging |
0.81 |
R1975:Vmn2r43
|
UTSW |
7 |
8,258,550 (GRCm39) |
missense |
possibly damaging |
0.91 |
R3951:Vmn2r43
|
UTSW |
7 |
8,258,319 (GRCm39) |
missense |
probably benign |
0.00 |
R4658:Vmn2r43
|
UTSW |
7 |
8,258,070 (GRCm39) |
missense |
probably benign |
0.01 |
R4879:Vmn2r43
|
UTSW |
7 |
8,258,102 (GRCm39) |
missense |
probably benign |
0.01 |
R4896:Vmn2r43
|
UTSW |
7 |
8,247,848 (GRCm39) |
missense |
probably damaging |
1.00 |
R5004:Vmn2r43
|
UTSW |
7 |
8,247,848 (GRCm39) |
missense |
probably damaging |
1.00 |
R5041:Vmn2r43
|
UTSW |
7 |
8,247,806 (GRCm39) |
missense |
probably damaging |
1.00 |
R6073:Vmn2r43
|
UTSW |
7 |
8,258,184 (GRCm39) |
missense |
probably benign |
0.13 |
R6133:Vmn2r43
|
UTSW |
7 |
8,247,970 (GRCm39) |
missense |
probably damaging |
1.00 |
R6867:Vmn2r43
|
UTSW |
7 |
8,258,125 (GRCm39) |
missense |
probably benign |
0.00 |
R7214:Vmn2r43
|
UTSW |
7 |
8,256,379 (GRCm39) |
critical splice donor site |
probably null |
|
R7339:Vmn2r43
|
UTSW |
7 |
8,258,306 (GRCm39) |
nonsense |
probably null |
|
R7424:Vmn2r43
|
UTSW |
7 |
8,258,328 (GRCm39) |
missense |
probably damaging |
0.99 |
R7534:Vmn2r43
|
UTSW |
7 |
8,258,230 (GRCm39) |
nonsense |
probably null |
|
R7542:Vmn2r43
|
UTSW |
7 |
8,258,488 (GRCm39) |
missense |
probably benign |
0.00 |
R7757:Vmn2r43
|
UTSW |
7 |
8,258,253 (GRCm39) |
missense |
possibly damaging |
0.77 |
R8131:Vmn2r43
|
UTSW |
7 |
8,258,326 (GRCm39) |
missense |
probably benign |
0.00 |
R8345:Vmn2r43
|
UTSW |
7 |
8,256,601 (GRCm39) |
missense |
possibly damaging |
0.69 |
R8418:Vmn2r43
|
UTSW |
7 |
8,258,583 (GRCm39) |
nonsense |
probably null |
|
R9691:Vmn2r43
|
UTSW |
7 |
8,247,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
|
Posted On |
2017-02-16 |