Incidental Mutation 'R5409:Or5h22'
| ID |
426469 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or5h22
|
| Ensembl Gene |
ENSMUSG00000064006 |
| Gene Name |
olfactory receptor family 5 subfamily H member 22 |
| Synonyms |
GA_x54KRFPKG5P-55303207-55302284, Olfr190, MOR183-4 |
| MMRRC Submission |
042978-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R5409 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
58894518-58895441 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 58894559 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 295
(V295I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148991
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071243]
[ENSMUST00000206214]
[ENSMUST00000215687]
[ENSMUST00000216495]
|
| AlphaFold |
K7N5T5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000071243
AA Change: V295I
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000071224
Gene: ENSMUSG00000064006
AA Change: V295I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
306 |
1.1e-46 |
PFAM |
|
Pfam:7tm_1
|
39 |
288 |
2.8e-21 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206214
AA Change: V295I
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000215687
AA Change: V295I
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000216495
AA Change: V295I
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
T |
C |
10: 79,850,154 (GRCm39) |
L2002P |
probably damaging |
Het |
| Acot11 |
C |
T |
4: 106,617,327 (GRCm39) |
G240R |
probably damaging |
Het |
| Adgrl1 |
A |
G |
8: 84,656,371 (GRCm39) |
T230A |
probably damaging |
Het |
| Anapc4 |
A |
G |
5: 53,005,941 (GRCm39) |
E316G |
probably damaging |
Het |
| Asic1 |
GCACC |
GCACCACC |
15: 99,596,684 (GRCm39) |
|
probably benign |
Het |
| Aurka |
T |
G |
2: 172,209,036 (GRCm39) |
Q33P |
possibly damaging |
Het |
| Ccn5 |
G |
A |
2: 163,667,158 (GRCm39) |
C53Y |
probably damaging |
Het |
| Cenpm |
T |
C |
15: 82,118,564 (GRCm39) |
T153A |
probably benign |
Het |
| Clca4b |
T |
A |
3: 144,622,452 (GRCm39) |
K538* |
probably null |
Het |
| Clip2 |
G |
A |
5: 134,551,645 (GRCm39) |
T159M |
possibly damaging |
Het |
| Col5a1 |
C |
T |
2: 27,850,457 (GRCm39) |
T518I |
unknown |
Het |
| Dis3 |
A |
T |
14: 99,323,368 (GRCm39) |
M566K |
possibly damaging |
Het |
| Dnah1 |
C |
T |
14: 30,985,212 (GRCm39) |
R3869H |
probably damaging |
Het |
| Gm4775 |
A |
T |
14: 106,338,386 (GRCm39) |
|
noncoding transcript |
Het |
| Hipk2 |
C |
T |
6: 38,706,977 (GRCm39) |
G637D |
probably damaging |
Het |
| Igkv4-61 |
T |
C |
6: 69,394,111 (GRCm39) |
K18E |
possibly damaging |
Het |
| Kcnk4 |
A |
G |
19: 6,903,578 (GRCm39) |
S324P |
probably benign |
Het |
| Larp4 |
T |
C |
15: 99,883,945 (GRCm39) |
C61R |
probably damaging |
Het |
| Nid2 |
T |
C |
14: 19,856,030 (GRCm39) |
F986L |
probably damaging |
Het |
| Or5ac16 |
A |
G |
16: 59,021,920 (GRCm39) |
Y290H |
probably damaging |
Het |
| Or5aq1b |
T |
C |
2: 86,902,214 (GRCm39) |
E88G |
possibly damaging |
Het |
| Pgbd5 |
T |
A |
8: 125,098,619 (GRCm39) |
I359F |
probably damaging |
Het |
| Plekhh2 |
T |
C |
17: 84,893,906 (GRCm39) |
|
probably null |
Het |
| Pomgnt2 |
A |
T |
9: 121,811,303 (GRCm39) |
S493T |
possibly damaging |
Het |
| Rnf7l |
A |
T |
10: 63,257,403 (GRCm39) |
M39K |
possibly damaging |
Het |
| Rp1l1 |
T |
C |
14: 64,268,070 (GRCm39) |
S1219P |
probably benign |
Het |
| Rprd1b |
T |
A |
2: 157,916,987 (GRCm39) |
F322L |
probably damaging |
Het |
| Sh3rf1 |
G |
A |
8: 61,827,279 (GRCm39) |
V678M |
probably benign |
Het |
| Smpd5 |
C |
A |
15: 76,179,914 (GRCm39) |
T321K |
probably damaging |
Het |
| Spag8 |
T |
A |
4: 43,653,134 (GRCm39) |
|
probably benign |
Het |
| Tanc2 |
T |
C |
11: 105,758,311 (GRCm39) |
C691R |
possibly damaging |
Het |
| Tnc |
A |
C |
4: 63,884,773 (GRCm39) |
M1834R |
probably damaging |
Het |
| Tnc |
A |
T |
4: 63,925,654 (GRCm39) |
Y961N |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,700,893 (GRCm39) |
|
probably benign |
Het |
| Ufl1 |
A |
G |
4: 25,280,706 (GRCm39) |
V47A |
probably damaging |
Het |
| Unc13c |
T |
A |
9: 73,485,672 (GRCm39) |
D1676V |
possibly damaging |
Het |
| Vmn1r65 |
T |
C |
7: 6,012,012 (GRCm39) |
N74S |
possibly damaging |
Het |
| Vmn2r30 |
A |
G |
7: 7,315,547 (GRCm39) |
F762S |
probably damaging |
Het |
|
| Other mutations in Or5h22 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00953:Or5h22
|
APN |
16 |
58,895,052 (GRCm39) |
nonsense |
probably null |
|
|
IGL01011:Or5h22
|
APN |
16 |
58,894,793 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL01453:Or5h22
|
APN |
16 |
58,895,132 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01978:Or5h22
|
APN |
16 |
58,894,630 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL02348:Or5h22
|
APN |
16 |
58,895,312 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02423:Or5h22
|
APN |
16 |
58,894,630 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL02628:Or5h22
|
APN |
16 |
58,895,155 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0220:Or5h22
|
UTSW |
16 |
58,895,095 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0471:Or5h22
|
UTSW |
16 |
58,894,633 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1697:Or5h22
|
UTSW |
16 |
58,895,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3009:Or5h22
|
UTSW |
16 |
58,895,350 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3011:Or5h22
|
UTSW |
16 |
58,895,350 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3027:Or5h22
|
UTSW |
16 |
58,895,330 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4080:Or5h22
|
UTSW |
16 |
58,894,619 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4482:Or5h22
|
UTSW |
16 |
58,895,286 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4895:Or5h22
|
UTSW |
16 |
58,895,020 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5825:Or5h22
|
UTSW |
16 |
58,895,024 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6146:Or5h22
|
UTSW |
16 |
58,895,077 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6249:Or5h22
|
UTSW |
16 |
58,894,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6996:Or5h22
|
UTSW |
16 |
58,894,555 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7283:Or5h22
|
UTSW |
16 |
58,894,555 (GRCm39) |
missense |
probably benign |
|
|
R7707:Or5h22
|
UTSW |
16 |
58,894,634 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R8381:Or5h22
|
UTSW |
16 |
58,895,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8507:Or5h22
|
UTSW |
16 |
58,895,243 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8887:Or5h22
|
UTSW |
16 |
58,894,846 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTGGCCATTGTCAAAGGAAG -3'
(R):5'- TGTCCTATACACTAGTGCTATTGACG -3'
Sequencing Primer
(F):5'- TTTGGCCATTGTCAAAGGAAGATAAG -3'
(R):5'- GCATGAAGAAGGCTTTCTCTACCTG -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation