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 |
8370459-8386237 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 8370527 bp (GRCm39)
|
| 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: 14,255,589 (GRCm39) |
I636N |
probably benign |
Het |
| Adam5 |
A |
G |
8: 25,271,712 (GRCm39) |
I565T |
possibly damaging |
Het |
| Amd2 |
C |
A |
10: 35,587,633 (GRCm39) |
|
probably benign |
Het |
| Ap5m1 |
T |
A |
14: 49,323,727 (GRCm39) |
Y472* |
probably null |
Het |
| Apcdd1 |
T |
C |
18: 63,070,024 (GRCm39) |
F97S |
probably damaging |
Het |
| Axdnd1 |
T |
C |
1: 156,208,446 (GRCm39) |
K267R |
|
Het |
| Carf |
G |
T |
1: 60,187,309 (GRCm39) |
L637F |
probably damaging |
Het |
| Ccdc103 |
A |
T |
11: 102,774,636 (GRCm39) |
S95C |
possibly damaging |
Het |
| Cfap20 |
T |
C |
8: 96,147,874 (GRCm39) |
I156V |
probably benign |
Het |
| Csn1s2a |
T |
C |
5: 87,929,664 (GRCm39) |
C96R |
probably benign |
Het |
| Cspg4b |
T |
G |
13: 113,457,310 (GRCm39) |
S1119A |
|
Het |
| Ctif |
CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC |
CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC |
18: 75,604,874 (GRCm39) |
|
probably benign |
Het |
| Dennd2a |
G |
A |
6: 39,483,645 (GRCm39) |
T405M |
probably damaging |
Het |
| Dennd5a |
A |
G |
7: 109,493,961 (GRCm39) |
Y1248H |
probably damaging |
Het |
| Dnah14 |
A |
T |
1: 181,547,710 (GRCm39) |
K2504N |
probably damaging |
Het |
| Dnajb2 |
G |
A |
1: 75,220,306 (GRCm39) |
G275D |
|
Het |
| Elf3 |
T |
G |
1: 135,184,856 (GRCm39) |
D110A |
probably damaging |
Het |
| Eomes |
A |
G |
9: 118,313,557 (GRCm39) |
N534S |
probably benign |
Het |
| Fry |
A |
T |
5: 150,309,532 (GRCm39) |
R659W |
probably damaging |
Het |
| Gm10428 |
G |
A |
11: 62,644,206 (GRCm39) |
C94Y |
unknown |
Het |
| Gm2696 |
T |
A |
10: 77,672,133 (GRCm39) |
C111S |
unknown |
Het |
| Gpt2 |
G |
A |
8: 86,244,681 (GRCm39) |
E325K |
probably benign |
Het |
| Lrp1b |
T |
A |
2: 40,888,247 (GRCm39) |
N2338Y |
|
Het |
| Map2k1 |
A |
G |
9: 64,119,888 (GRCm39) |
I139T |
probably damaging |
Het |
| Or10n7-ps1 |
T |
C |
9: 39,598,003 (GRCm39) |
Y79C |
probably benign |
Het |
| Or8g20 |
T |
C |
9: 39,395,944 (GRCm39) |
I202V |
probably benign |
Het |
| Pxylp1 |
G |
A |
9: 96,707,063 (GRCm39) |
T373I |
probably benign |
Het |
| Ranbp9 |
T |
C |
13: 43,560,147 (GRCm39) |
N484S |
probably benign |
Het |
| Rassf5 |
A |
G |
1: 131,108,986 (GRCm39) |
V293A |
probably benign |
Het |
| Ring1 |
A |
G |
17: 34,242,420 (GRCm39) |
I29T |
probably damaging |
Het |
| Scn1a |
G |
A |
2: 66,154,962 (GRCm39) |
Q666* |
probably null |
Het |
| Spice1 |
G |
A |
16: 44,199,638 (GRCm39) |
G697R |
probably benign |
Het |
| Tas2r131 |
A |
G |
6: 132,934,567 (GRCm39) |
F81L |
probably benign |
Het |
| Tenm2 |
G |
A |
11: 36,054,644 (GRCm39) |
S572L |
probably damaging |
Het |
| Tfr2 |
A |
G |
5: 137,569,977 (GRCm39) |
T128A |
probably benign |
Het |
| Trim56 |
T |
A |
5: 137,142,514 (GRCm39) |
Q334L |
probably damaging |
Het |
|
| Other mutations in Vmn2r44 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01650:Vmn2r44
|
APN |
7 |
8,383,103 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01723:Vmn2r44
|
APN |
7 |
8,380,915 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01767:Vmn2r44
|
APN |
7 |
8,383,237 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02161:Vmn2r44
|
APN |
7 |
8,380,814 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02299:Vmn2r44
|
APN |
7 |
8,380,815 (GRCm39) |
missense |
probably benign |
|
|
IGL02418:Vmn2r44
|
APN |
7 |
8,380,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02829:Vmn2r44
|
APN |
7 |
8,380,879 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02851:Vmn2r44
|
APN |
7 |
8,386,050 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03080:Vmn2r44
|
APN |
7 |
8,386,244 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R1471:Vmn2r44
|
UTSW |
7 |
8,380,882 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1789:Vmn2r44
|
UTSW |
7 |
8,383,122 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R1932:Vmn2r44
|
UTSW |
7 |
8,370,981 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2354:Vmn2r44
|
UTSW |
7 |
8,373,639 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4009:Vmn2r44
|
UTSW |
7 |
8,380,987 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4130:Vmn2r44
|
UTSW |
7 |
8,370,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4790:Vmn2r44
|
UTSW |
7 |
8,370,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4854:Vmn2r44
|
UTSW |
7 |
8,383,300 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4887:Vmn2r44
|
UTSW |
7 |
8,380,985 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4888:Vmn2r44
|
UTSW |
7 |
8,380,985 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5484:Vmn2r44
|
UTSW |
7 |
8,383,123 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6110:Vmn2r44
|
UTSW |
7 |
8,381,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6357:Vmn2r44
|
UTSW |
7 |
8,373,657 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6526:Vmn2r44
|
UTSW |
7 |
8,381,098 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7083:Vmn2r44
|
UTSW |
7 |
8,381,369 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7087:Vmn2r44
|
UTSW |
7 |
8,381,366 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7125:Vmn2r44
|
UTSW |
7 |
8,370,941 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7258:Vmn2r44
|
UTSW |
7 |
8,380,848 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7359:Vmn2r44
|
UTSW |
7 |
8,370,538 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7494:Vmn2r44
|
UTSW |
7 |
8,386,122 (GRCm39) |
nonsense |
probably null |
|
|
R7766:Vmn2r44
|
UTSW |
7 |
8,371,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7777:Vmn2r44
|
UTSW |
7 |
8,381,314 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8184:Vmn2r44
|
UTSW |
7 |
8,371,227 (GRCm39) |
nonsense |
probably null |
|
|
R8674:Vmn2r44
|
UTSW |
7 |
8,380,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8752:Vmn2r44
|
UTSW |
7 |
8,370,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8897:Vmn2r44
|
UTSW |
7 |
8,381,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8915:Vmn2r44
|
UTSW |
7 |
8,370,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8928:Vmn2r44
|
UTSW |
7 |
8,381,101 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9163:Vmn2r44
|
UTSW |
7 |
8,371,091 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Vmn2r44
|
UTSW |
7 |
8,370,976 (GRCm39) |
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