Incidental Mutation 'R6449:Or5w11'
| ID |
519278 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or5w11
|
| Ensembl Gene |
ENSMUSG00000068819 |
| Gene Name |
olfactory receptor family 5 subfamily W member 11 |
| Synonyms |
GA_x6K02T2Q125-49133664-49134593, MOR177-4, Olfr1131 |
| MMRRC Submission |
044585-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R6449 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
87458809-87459738 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 87459493 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 229
(S229P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150754
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090712]
[ENSMUST00000213302]
[ENSMUST00000216082]
[ENSMUST00000216756]
|
| AlphaFold |
Q7TR45 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000090712
AA Change: S229P
PolyPhen 2
Score 0.634 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000088214
Gene: ENSMUSG00000068819
AA Change: S229P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
30 |
307 |
5.2e-47 |
PFAM |
|
Pfam:7tm_1
|
40 |
289 |
1.7e-18 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000213302
AA Change: S229P
PolyPhen 2
Score 0.634 (Sensitivity: 0.87; Specificity: 0.91)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216082
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000216756
AA Change: S113P
PolyPhen 2
Score 0.542 (Sensitivity: 0.88; Specificity: 0.91)
|
| Meta Mutation Damage Score |
0.5586 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.6%
|
| Validation Efficiency |
100% (44/44) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
C |
T |
7: 41,275,298 (GRCm39) |
Q334* |
probably null |
Het |
| Aadacl2fm2 |
A |
T |
3: 59,652,972 (GRCm39) |
D137V |
probably damaging |
Het |
| Adam28 |
T |
C |
14: 68,868,116 (GRCm39) |
T410A |
probably benign |
Het |
| Ano10 |
T |
C |
9: 122,030,754 (GRCm39) |
|
probably benign |
Het |
| Bmpr2 |
T |
A |
1: 59,906,596 (GRCm39) |
V563E |
probably damaging |
Het |
| Ccdc47 |
A |
G |
11: 106,095,811 (GRCm39) |
L295P |
probably damaging |
Het |
| Cdhr1 |
T |
C |
14: 36,812,554 (GRCm39) |
T210A |
probably benign |
Het |
| Col16a1 |
G |
A |
4: 129,960,486 (GRCm39) |
A408T |
unknown |
Het |
| Csnk1g2 |
A |
G |
10: 80,475,906 (GRCm39) |
K415R |
probably damaging |
Het |
| Cyp2c29 |
G |
T |
19: 39,279,311 (GRCm39) |
A103S |
probably benign |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
| Dsg1b |
A |
T |
18: 20,527,498 (GRCm39) |
I210F |
possibly damaging |
Het |
| Fhod1 |
T |
A |
8: 106,056,869 (GRCm39) |
D1002V |
probably damaging |
Het |
| Gm5592 |
G |
A |
7: 40,938,010 (GRCm39) |
V431I |
probably benign |
Het |
| Gtpbp4 |
A |
T |
13: 9,040,773 (GRCm39) |
C174* |
probably null |
Het |
| Il2ra |
A |
G |
2: 11,685,173 (GRCm39) |
K170E |
probably benign |
Het |
| Itch |
T |
C |
2: 155,005,315 (GRCm39) |
|
probably benign |
Het |
| Jazf1 |
A |
C |
6: 52,754,640 (GRCm39) |
D145E |
probably damaging |
Het |
| Kank2 |
G |
T |
9: 21,691,858 (GRCm39) |
A469E |
possibly damaging |
Het |
| Kirrel3 |
A |
G |
9: 34,902,269 (GRCm39) |
I125V |
probably benign |
Het |
| Klra9 |
G |
T |
6: 130,155,995 (GRCm39) |
Y253* |
probably null |
Het |
| Krtap27-1 |
C |
T |
16: 88,467,941 (GRCm39) |
S201N |
probably benign |
Het |
| Map3k20 |
T |
C |
2: 72,228,758 (GRCm39) |
S326P |
probably damaging |
Het |
| Mkks |
C |
A |
2: 136,716,206 (GRCm39) |
V565F |
probably damaging |
Het |
| Ntaq1 |
T |
G |
15: 58,013,994 (GRCm39) |
|
probably null |
Het |
| Or5c1 |
A |
G |
2: 37,221,837 (GRCm39) |
D26G |
possibly damaging |
Het |
| Or5k8 |
A |
T |
16: 58,644,889 (GRCm39) |
I61N |
probably damaging |
Het |
| Pacsin3 |
A |
T |
2: 91,090,514 (GRCm39) |
|
probably null |
Het |
| Pdcd7 |
A |
G |
9: 65,264,057 (GRCm39) |
E434G |
probably damaging |
Het |
| Plekhb2 |
T |
C |
1: 34,903,564 (GRCm39) |
F102L |
probably benign |
Het |
| Ppp1r9a |
A |
G |
6: 5,057,458 (GRCm39) |
D191G |
probably benign |
Het |
| Psmd3 |
A |
G |
11: 98,576,466 (GRCm39) |
T123A |
probably benign |
Het |
| Ptprq |
C |
T |
10: 107,541,444 (GRCm39) |
V361M |
probably benign |
Het |
| Raver2 |
A |
G |
4: 100,990,869 (GRCm39) |
D414G |
probably benign |
Het |
| Rnf123 |
G |
A |
9: 107,933,252 (GRCm39) |
H1162Y |
probably benign |
Het |
| Sema4f |
A |
G |
6: 82,894,851 (GRCm39) |
V448A |
probably benign |
Het |
| Tcf12 |
A |
T |
9: 71,775,550 (GRCm39) |
M400K |
probably damaging |
Het |
| Tcl1b2 |
G |
T |
12: 105,119,261 (GRCm39) |
E50* |
probably null |
Het |
| Thada |
A |
C |
17: 84,736,601 (GRCm39) |
D893E |
probably benign |
Het |
| Trim24 |
G |
A |
6: 37,880,587 (GRCm39) |
|
probably null |
Het |
| Ttll5 |
T |
C |
12: 86,071,050 (GRCm39) |
S1308P |
probably benign |
Het |
| Ubtfl1 |
T |
A |
9: 18,320,925 (GRCm39) |
I151N |
possibly damaging |
Het |
| Vmn2r70 |
A |
T |
7: 85,214,157 (GRCm39) |
F332I |
probably damaging |
Het |
| Zfhx4 |
A |
G |
3: 5,307,488 (GRCm39) |
D238G |
probably damaging |
Het |
| Zfp639 |
A |
G |
3: 32,573,810 (GRCm39) |
H145R |
possibly damaging |
Het |
|
| Other mutations in Or5w11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01388:Or5w11
|
APN |
2 |
87,458,973 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02186:Or5w11
|
APN |
2 |
87,459,715 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0266:Or5w11
|
UTSW |
2 |
87,459,626 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0849:Or5w11
|
UTSW |
2 |
87,459,626 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1607:Or5w11
|
UTSW |
2 |
87,459,321 (GRCm39) |
missense |
probably benign |
0.14 |
|
R2077:Or5w11
|
UTSW |
2 |
87,459,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2105:Or5w11
|
UTSW |
2 |
87,459,283 (GRCm39) |
missense |
probably benign |
0.20 |
|
R2322:Or5w11
|
UTSW |
2 |
87,459,118 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R3434:Or5w11
|
UTSW |
2 |
87,459,418 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4357:Or5w11
|
UTSW |
2 |
87,458,810 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R5139:Or5w11
|
UTSW |
2 |
87,459,000 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5333:Or5w11
|
UTSW |
2 |
87,459,458 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5719:Or5w11
|
UTSW |
2 |
87,459,475 (GRCm39) |
splice site |
probably null |
|
|
R7640:Or5w11
|
UTSW |
2 |
87,459,436 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7941:Or5w11
|
UTSW |
2 |
87,459,248 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8110:Or5w11
|
UTSW |
2 |
87,458,951 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R8393:Or5w11
|
UTSW |
2 |
87,459,197 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8877:Or5w11
|
UTSW |
2 |
87,459,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9250:Or5w11
|
UTSW |
2 |
87,459,278 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9290:Or5w11
|
UTSW |
2 |
87,459,209 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9313:Or5w11
|
UTSW |
2 |
87,459,076 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9666:Or5w11
|
UTSW |
2 |
87,459,152 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
X0027:Or5w11
|
UTSW |
2 |
87,459,647 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
Z1176:Or5w11
|
UTSW |
2 |
87,459,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTGGGAACATCAGATGCTTTG -3'
(R):5'- AGTGGGTTCAGCATAGGAATCAC -3'
Sequencing Primer
(F):5'- TCTGCGGGTCTAATGAGATCAACC -3'
(R):5'- TTCAGCATAGGAATCACAAGGG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation