Incidental Mutation 'R7115:Vmn2r44'
| ID |
551724 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r44
|
| Ensembl Gene |
ENSMUSG00000094098 |
| Gene Name |
vomeronasal 2, receptor 44 |
| Synonyms |
EG434113 |
| MMRRC Submission |
045206-MU
|
| Accession Numbers |
|
| Essential gene? |
Not available
|
| Stock # |
R7115 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
8366502-8383354 bp(-) (GRCm38) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 8367528 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 840
(R840*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132467
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000166499]
|
| AlphaFold |
L7N2E1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000166499
AA Change: R840*
|
| SMART Domains |
Protein: ENSMUSP00000132467
Gene: ENSMUSG00000094098
AA Change: R840*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
73 |
469 |
2.5e-34 |
PFAM |
|
Pfam:NCD3G
|
512 |
565 |
3.8e-20 |
PFAM |
|
Pfam:7tm_3
|
598 |
833 |
5.7e-55 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
T |
A |
16: 14,437,725 (GRCm38) |
I636N |
probably benign |
Het |
| Adam5 |
A |
G |
8: 24,781,696 (GRCm38) |
I565T |
possibly damaging |
Het |
| Amd2 |
C |
A |
10: 35,711,637 (GRCm38) |
|
probably benign |
Het |
| Ap5m1 |
T |
A |
14: 49,086,270 (GRCm38) |
Y472* |
probably null |
Het |
| Apcdd1 |
T |
C |
18: 62,936,953 (GRCm38) |
F97S |
probably damaging |
Het |
| Axdnd1 |
T |
C |
1: 156,380,876 (GRCm38) |
K267R |
|
Het |
| Carf |
G |
T |
1: 60,148,150 (GRCm38) |
L637F |
probably damaging |
Het |
| Ccdc103 |
A |
T |
11: 102,883,810 (GRCm38) |
S95C |
possibly damaging |
Het |
| Cfap20 |
T |
C |
8: 95,421,246 (GRCm38) |
I156V |
probably benign |
Het |
| Csn1s2a |
T |
C |
5: 87,781,805 (GRCm38) |
C96R |
probably benign |
Het |
| Cspg4b |
T |
G |
13: 113,320,776 (GRCm38) |
S1119A |
|
Het |
| Ctif |
CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC |
CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC |
18: 75,471,803 (GRCm38) |
|
probably benign |
Het |
| Dennd2a |
G |
A |
6: 39,506,711 (GRCm38) |
T405M |
probably damaging |
Het |
| Dennd5a |
A |
G |
7: 109,894,754 (GRCm38) |
Y1248H |
probably damaging |
Het |
| Dnah14 |
A |
T |
1: 181,720,145 (GRCm38) |
K2504N |
probably damaging |
Het |
| Dnajb2 |
G |
A |
1: 75,243,662 (GRCm38) |
G275D |
|
Het |
| Elf3 |
T |
G |
1: 135,257,118 (GRCm38) |
D110A |
probably damaging |
Het |
| Eomes |
A |
G |
9: 118,484,489 (GRCm38) |
N534S |
probably benign |
Het |
| Fry |
A |
T |
5: 150,386,067 (GRCm38) |
R659W |
probably damaging |
Het |
| Gm10428 |
G |
A |
11: 62,753,380 (GRCm38) |
C94Y |
unknown |
Het |
| Gm2696 |
T |
A |
10: 77,836,299 (GRCm38) |
C111S |
unknown |
Het |
| Gpt2 |
G |
A |
8: 85,518,052 (GRCm38) |
E325K |
probably benign |
Het |
| Lrp1b |
T |
A |
2: 40,998,235 (GRCm38) |
N2338Y |
|
Het |
| Map2k1 |
A |
G |
9: 64,212,606 (GRCm38) |
I139T |
probably damaging |
Het |
| Or10n7-ps1 |
T |
C |
9: 39,686,707 (GRCm38) |
Y79C |
probably benign |
Het |
| Or8g20 |
T |
C |
9: 39,484,648 (GRCm38) |
I202V |
probably benign |
Het |
| Pxylp1 |
G |
A |
9: 96,825,010 (GRCm38) |
T373I |
probably benign |
Het |
| Ranbp9 |
T |
C |
13: 43,406,671 (GRCm38) |
N484S |
probably benign |
Het |
| Rassf5 |
A |
G |
1: 131,181,249 (GRCm38) |
V293A |
probably benign |
Het |
| Ring1 |
A |
G |
17: 34,023,446 (GRCm38) |
I29T |
probably damaging |
Het |
| Scn1a |
G |
A |
2: 66,324,618 (GRCm38) |
Q666* |
probably null |
Het |
| Spice1 |
G |
A |
16: 44,379,275 (GRCm38) |
G697R |
probably benign |
Het |
| Tas2r131 |
A |
G |
6: 132,957,604 (GRCm38) |
F81L |
probably benign |
Het |
| Tenm2 |
G |
A |
11: 36,163,817 (GRCm38) |
S572L |
probably damaging |
Het |
| Tfr2 |
A |
G |
5: 137,571,715 (GRCm38) |
T128A |
probably benign |
Het |
| Trim56 |
T |
A |
5: 137,113,660 (GRCm38) |
Q334L |
probably damaging |
Het |
|
| Other mutations in Vmn2r44 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01650:Vmn2r44
|
APN |
7 |
8,380,104 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL01723:Vmn2r44
|
APN |
7 |
8,377,916 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL01767:Vmn2r44
|
APN |
7 |
8,380,238 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02161:Vmn2r44
|
APN |
7 |
8,377,815 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
IGL02299:Vmn2r44
|
APN |
7 |
8,377,816 (GRCm38) |
missense |
probably benign |
|
|
IGL02418:Vmn2r44
|
APN |
7 |
8,377,865 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02829:Vmn2r44
|
APN |
7 |
8,377,880 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
IGL02851:Vmn2r44
|
APN |
7 |
8,383,051 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03080:Vmn2r44
|
APN |
7 |
8,383,245 (GRCm38) |
utr 5 prime |
probably benign |
|
|
R1471:Vmn2r44
|
UTSW |
7 |
8,377,883 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1789:Vmn2r44
|
UTSW |
7 |
8,380,123 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
R1932:Vmn2r44
|
UTSW |
7 |
8,367,982 (GRCm38) |
missense |
probably benign |
0.04 |
|
R2354:Vmn2r44
|
UTSW |
7 |
8,370,640 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4009:Vmn2r44
|
UTSW |
7 |
8,377,988 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R4130:Vmn2r44
|
UTSW |
7 |
8,367,919 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4790:Vmn2r44
|
UTSW |
7 |
8,367,950 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4854:Vmn2r44
|
UTSW |
7 |
8,380,301 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R4887:Vmn2r44
|
UTSW |
7 |
8,377,986 (GRCm38) |
missense |
probably benign |
0.19 |
|
R4888:Vmn2r44
|
UTSW |
7 |
8,377,986 (GRCm38) |
missense |
probably benign |
0.19 |
|
R5484:Vmn2r44
|
UTSW |
7 |
8,380,124 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R6110:Vmn2r44
|
UTSW |
7 |
8,378,006 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6357:Vmn2r44
|
UTSW |
7 |
8,370,658 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6526:Vmn2r44
|
UTSW |
7 |
8,378,099 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7083:Vmn2r44
|
UTSW |
7 |
8,378,370 (GRCm38) |
missense |
probably benign |
0.44 |
|
R7087:Vmn2r44
|
UTSW |
7 |
8,378,367 (GRCm38) |
missense |
probably benign |
0.02 |
|
R7125:Vmn2r44
|
UTSW |
7 |
8,367,942 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7258:Vmn2r44
|
UTSW |
7 |
8,377,849 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7359:Vmn2r44
|
UTSW |
7 |
8,367,539 (GRCm38) |
missense |
probably benign |
0.30 |
|
R7494:Vmn2r44
|
UTSW |
7 |
8,383,123 (GRCm38) |
nonsense |
probably null |
|
|
R7766:Vmn2r44
|
UTSW |
7 |
8,368,220 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7777:Vmn2r44
|
UTSW |
7 |
8,378,315 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R8184:Vmn2r44
|
UTSW |
7 |
8,368,228 (GRCm38) |
nonsense |
probably null |
|
|
R8674:Vmn2r44
|
UTSW |
7 |
8,377,823 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8752:Vmn2r44
|
UTSW |
7 |
8,367,806 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8897:Vmn2r44
|
UTSW |
7 |
8,378,243 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8915:Vmn2r44
|
UTSW |
7 |
8,367,651 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8928:Vmn2r44
|
UTSW |
7 |
8,378,102 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9163:Vmn2r44
|
UTSW |
7 |
8,368,092 (GRCm38) |
missense |
probably benign |
0.00 |
|
Z1177:Vmn2r44
|
UTSW |
7 |
8,367,977 (GRCm38) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCACTAGAGCAACCAGTGAGAATG -3'
(R):5'- CTTGGCCAAGAATCTGCCTG -3'
Sequencing Primer
(F):5'- CAACCAGTGAGAATGAGTCTAAAAC -3'
(R):5'- GAAGCCAAGTTCTTGACCTTCAG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation