Incidental Mutation 'R2910:Or5h25'
| ID |
261212 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or5h25
|
| Ensembl Gene |
ENSMUSG00000060057 |
| Gene Name |
olfactory receptor family 5 subfamily H member 25 |
| Synonyms |
MOR113-7P, MOR183-7P, Olfr1540-ps1, MOR113-7P, GA_x54KRFPKG5P-55338697-55337768, Olfr193 |
| MMRRC Submission |
040497-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
R2910 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
58929988-58930996 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 58930544 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 143
(R143H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146393
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076262]
[ENSMUST00000207935]
[ENSMUST00000208455]
|
| AlphaFold |
Q7TS43 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076262
AA Change: R143H
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000075611
Gene: ENSMUSG00000060057
AA Change: R143H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
2.3e-48 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
5.4e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207935
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208455
AA Change: R143H
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
96% (49/51) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf3 |
A |
G |
16: 20,378,982 (GRCm39) |
T645A |
probably damaging |
Het |
| Acap1 |
A |
G |
11: 69,777,902 (GRCm39) |
|
probably benign |
Het |
| Adgrv1 |
G |
A |
13: 81,705,238 (GRCm39) |
A1524V |
possibly damaging |
Het |
| Agbl1 |
A |
G |
7: 76,069,586 (GRCm39) |
N121D |
probably benign |
Het |
| Ahnak |
A |
G |
19: 8,989,018 (GRCm39) |
D3434G |
probably damaging |
Het |
| Ankrd11 |
A |
T |
8: 123,635,537 (GRCm39) |
D32E |
probably damaging |
Het |
| Asxl1 |
T |
C |
2: 153,242,959 (GRCm39) |
S1170P |
probably benign |
Het |
| Atp8b3 |
G |
A |
10: 80,355,746 (GRCm39) |
S1322F |
possibly damaging |
Het |
| Car15 |
G |
A |
16: 17,656,006 (GRCm39) |
|
probably benign |
Het |
| Cep104 |
T |
A |
4: 154,079,884 (GRCm39) |
|
probably null |
Het |
| Cnnm1 |
A |
G |
19: 43,458,086 (GRCm39) |
I633V |
possibly damaging |
Het |
| Cog8 |
A |
T |
8: 107,780,853 (GRCm39) |
V135E |
probably benign |
Het |
| Cts6 |
A |
G |
13: 61,344,215 (GRCm39) |
V279A |
probably damaging |
Het |
| Ddx1 |
C |
T |
12: 13,281,441 (GRCm39) |
|
probably null |
Het |
| Dock2 |
A |
G |
11: 34,182,910 (GRCm39) |
|
probably benign |
Het |
| Ero1b |
T |
A |
13: 12,615,178 (GRCm39) |
D336E |
probably damaging |
Het |
| F11 |
C |
G |
8: 45,694,486 (GRCm39) |
*625S |
probably null |
Het |
| F5 |
A |
G |
1: 164,032,389 (GRCm39) |
M1779V |
probably benign |
Het |
| Fam227a |
A |
T |
15: 79,520,935 (GRCm39) |
D296E |
possibly damaging |
Het |
| Fbxo38 |
T |
C |
18: 62,652,878 (GRCm39) |
D523G |
probably benign |
Het |
| Ggt1 |
G |
A |
10: 75,416,430 (GRCm39) |
V275M |
probably benign |
Het |
| Gm379 |
A |
C |
X: 107,708,371 (GRCm39) |
F43V |
possibly damaging |
Het |
| Grhl3 |
T |
C |
4: 135,286,457 (GRCm39) |
I75V |
probably benign |
Het |
| Iqcm |
A |
T |
8: 76,441,404 (GRCm39) |
I226F |
probably benign |
Het |
| Kcnq1 |
T |
G |
7: 142,979,699 (GRCm39) |
L615R |
probably damaging |
Het |
| Lcp2 |
G |
A |
11: 34,018,970 (GRCm39) |
|
probably null |
Het |
| Lypd8l |
G |
A |
11: 58,499,252 (GRCm39) |
Q189* |
probably null |
Het |
| Mbtps1 |
A |
G |
8: 120,272,776 (GRCm39) |
I123T |
possibly damaging |
Het |
| Muc5ac |
C |
T |
7: 141,361,378 (GRCm39) |
T1563I |
probably damaging |
Het |
| Odf2l |
A |
C |
3: 144,830,084 (GRCm39) |
I19L |
probably benign |
Het |
| Or5ak23 |
T |
A |
2: 85,244,695 (GRCm39) |
H176L |
probably damaging |
Het |
| Pigr |
A |
G |
1: 130,777,270 (GRCm39) |
D692G |
probably damaging |
Het |
| Pkd1l3 |
A |
G |
8: 110,394,268 (GRCm39) |
|
probably benign |
Het |
| Plekhg4 |
TAGTCGATGCCCGAGTC |
TAGTC |
8: 106,103,084 (GRCm39) |
|
probably benign |
Het |
| Reep2 |
T |
C |
18: 34,978,743 (GRCm39) |
|
probably null |
Het |
| Rubcnl |
C |
T |
14: 75,278,248 (GRCm39) |
T344I |
probably benign |
Het |
| Sema6d |
C |
A |
2: 124,506,957 (GRCm39) |
P941T |
probably damaging |
Het |
| Shcbp1l |
C |
A |
1: 153,304,372 (GRCm39) |
L144I |
probably damaging |
Het |
| Slc7a1 |
T |
C |
5: 148,289,067 (GRCm39) |
E60G |
probably benign |
Het |
| Snx2 |
C |
T |
18: 53,332,946 (GRCm39) |
P207S |
probably damaging |
Het |
| Spata31 |
T |
G |
13: 65,068,250 (GRCm39) |
S133A |
probably benign |
Het |
| Tac1 |
A |
G |
6: 7,559,097 (GRCm39) |
|
probably null |
Het |
| Tfpi |
A |
C |
2: 84,274,437 (GRCm39) |
V184G |
possibly damaging |
Het |
| Tmeff1 |
C |
A |
4: 48,614,961 (GRCm39) |
N139K |
possibly damaging |
Het |
| Tnxb |
A |
G |
17: 34,891,424 (GRCm39) |
D589G |
probably damaging |
Het |
| Trpc1 |
C |
A |
9: 95,631,895 (GRCm39) |
A16S |
probably benign |
Het |
| Vmn2r106 |
A |
C |
17: 20,498,946 (GRCm39) |
L322V |
probably damaging |
Het |
| Vmn2r69 |
G |
T |
7: 85,055,918 (GRCm39) |
A740D |
probably damaging |
Het |
|
| Other mutations in Or5h25 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00335:Or5h25
|
APN |
16 |
58,930,961 (GRCm39) |
missense |
probably benign |
|
|
IGL01613:Or5h25
|
APN |
16 |
58,930,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02280:Or5h25
|
APN |
16 |
58,930,695 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02533:Or5h25
|
APN |
16 |
58,930,047 (GRCm39) |
missense |
probably benign |
|
|
IGL02544:Or5h25
|
APN |
16 |
58,930,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02576:Or5h25
|
APN |
16 |
58,930,134 (GRCm39) |
missense |
probably benign |
|
|
IGL02719:Or5h25
|
APN |
16 |
58,930,536 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03215:Or5h25
|
APN |
16 |
58,930,325 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL03272:Or5h25
|
APN |
16 |
58,930,919 (GRCm39) |
missense |
probably benign |
0.01 |
|
PIT4802001:Or5h25
|
UTSW |
16 |
58,930,964 (GRCm39) |
missense |
probably benign |
|
|
R0544:Or5h25
|
UTSW |
16 |
58,930,588 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0783:Or5h25
|
UTSW |
16 |
58,930,532 (GRCm39) |
nonsense |
probably null |
|
|
R1070:Or5h25
|
UTSW |
16 |
58,930,182 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1211:Or5h25
|
UTSW |
16 |
58,930,523 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1662:Or5h25
|
UTSW |
16 |
58,930,967 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1754:Or5h25
|
UTSW |
16 |
58,930,944 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1765:Or5h25
|
UTSW |
16 |
58,930,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1937:Or5h25
|
UTSW |
16 |
58,930,157 (GRCm39) |
missense |
probably benign |
0.11 |
|
R2875:Or5h25
|
UTSW |
16 |
58,930,165 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2911:Or5h25
|
UTSW |
16 |
58,930,544 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5084:Or5h25
|
UTSW |
16 |
58,930,436 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5700:Or5h25
|
UTSW |
16 |
58,930,356 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7018:Or5h25
|
UTSW |
16 |
58,930,970 (GRCm39) |
start codon destroyed |
probably null |
0.98 |
|
R7083:Or5h25
|
UTSW |
16 |
58,930,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7572:Or5h25
|
UTSW |
16 |
58,930,793 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7720:Or5h25
|
UTSW |
16 |
58,930,134 (GRCm39) |
missense |
probably benign |
|
|
R8045:Or5h25
|
UTSW |
16 |
58,930,402 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8869:Or5h25
|
UTSW |
16 |
58,930,121 (GRCm39) |
missense |
|
|
|
R8960:Or5h25
|
UTSW |
16 |
58,930,555 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9045:Or5h25
|
UTSW |
16 |
58,930,365 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9049:Or5h25
|
UTSW |
16 |
58,930,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGAATACCTGAATTGAGCCAGAG -3'
(R):5'- GTGACACCAAAGATGCTACAAG -3'
Sequencing Primer
(F):5'- TTGAGCCAGAGAAAATAAAGAGCATC -3'
(R):5'- GATGCTACAAGACATTTTTGCCAAG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation