Incidental Mutation 'R3819:Or5ac22'
| ID |
274836 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or5ac22
|
| Ensembl Gene |
ENSMUSG00000095928 |
| Gene Name |
olfactory receptor family 5 subfamily AC member 22 |
| Synonyms |
Olfr204, MOR182-3, GA_x54KRFPKG5P-55529713-55528796 |
| MMRRC Submission |
040773-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.088)
|
| Stock # |
R3819 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
59134851-59135768 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 59135434 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 112
(F112S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151176
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072517]
[ENSMUST00000207927]
[ENSMUST00000216261]
|
| AlphaFold |
E9Q8M0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000072517
AA Change: F112S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000072332
Gene: ENSMUSG00000095928
AA Change: F112S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
30 |
305 |
1.5e-49 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
34 |
299 |
2.3e-9 |
PFAM |
|
Pfam:7tm_1
|
40 |
289 |
3.4e-21 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207927
AA Change: F112S
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216261
AA Change: F112S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.3742 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.7%
- 20x: 96.1%
|
| Validation Efficiency |
100% (38/38) |
| 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 |
|---|
| Aak1 |
T |
C |
6: 86,936,024 (GRCm39) |
|
probably benign |
Het |
| Atp1b1 |
C |
T |
1: 164,270,874 (GRCm39) |
R35H |
probably benign |
Het |
| Barx1 |
T |
C |
13: 48,818,960 (GRCm39) |
I200T |
possibly damaging |
Het |
| Coil |
T |
C |
11: 88,872,619 (GRCm39) |
F380L |
probably benign |
Het |
| Csmd1 |
C |
T |
8: 16,052,522 (GRCm39) |
A2201T |
probably damaging |
Het |
| Dab2ip |
T |
C |
2: 35,603,222 (GRCm39) |
C417R |
probably damaging |
Het |
| Dhx57 |
A |
G |
17: 80,572,503 (GRCm39) |
|
probably null |
Het |
| Gabrg3 |
G |
A |
7: 57,031,412 (GRCm39) |
Q43* |
probably null |
Het |
| Gbp7 |
C |
A |
3: 142,249,826 (GRCm39) |
H432Q |
possibly damaging |
Het |
| Gjb2 |
A |
G |
14: 57,337,530 (GRCm39) |
V226A |
probably benign |
Het |
| Gsdme |
A |
C |
6: 50,196,391 (GRCm39) |
S340A |
probably benign |
Het |
| Hivep2 |
T |
C |
10: 14,019,685 (GRCm39) |
V2152A |
possibly damaging |
Het |
| Hjurp |
G |
C |
1: 88,204,937 (GRCm39) |
|
probably benign |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Krt34 |
T |
C |
11: 99,930,844 (GRCm39) |
E186G |
probably damaging |
Het |
| Ly9 |
G |
T |
1: 171,416,653 (GRCm39) |
T537N |
possibly damaging |
Het |
| Msantd4 |
A |
G |
9: 4,385,237 (GRCm39) |
K321E |
probably damaging |
Het |
| Or5p59 |
A |
G |
7: 107,702,705 (GRCm39) |
Y63C |
possibly damaging |
Het |
| Or8b12c |
C |
T |
9: 37,715,465 (GRCm39) |
S86L |
probably benign |
Het |
| Or8b40 |
A |
T |
9: 38,027,922 (GRCm39) |
T277S |
possibly damaging |
Het |
| Or8b55 |
A |
G |
9: 38,727,722 (GRCm39) |
K308E |
possibly damaging |
Het |
| Paxbp1 |
A |
C |
16: 90,819,640 (GRCm39) |
|
probably benign |
Het |
| Plcl1 |
T |
A |
1: 55,735,758 (GRCm39) |
D366E |
probably benign |
Het |
| Pramel22 |
T |
A |
4: 143,382,365 (GRCm39) |
E110D |
probably benign |
Het |
| Prdm5 |
T |
C |
6: 65,913,041 (GRCm39) |
F391L |
possibly damaging |
Het |
| Rasef |
C |
G |
4: 73,677,942 (GRCm39) |
D95H |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Skint3 |
A |
T |
4: 112,113,085 (GRCm39) |
I232F |
possibly damaging |
Het |
| Slc43a3 |
T |
C |
2: 84,774,896 (GRCm39) |
I158T |
probably damaging |
Het |
| Smad1 |
G |
A |
8: 80,070,359 (GRCm39) |
A393V |
probably benign |
Het |
| Sorl1 |
A |
G |
9: 41,975,345 (GRCm39) |
L487P |
possibly damaging |
Het |
| Sspo |
A |
T |
6: 48,458,037 (GRCm39) |
E3269V |
possibly damaging |
Het |
| Stat3 |
C |
T |
11: 100,789,459 (GRCm39) |
S377N |
probably damaging |
Het |
| Tbpl2 |
A |
G |
2: 23,966,024 (GRCm39) |
V321A |
probably damaging |
Het |
| Tnfrsf11a |
C |
T |
1: 105,737,085 (GRCm39) |
T64I |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,729,047 (GRCm39) |
|
probably benign |
Het |
| Wdr37 |
A |
G |
13: 8,903,632 (GRCm39) |
|
probably benign |
Het |
| Xdh |
A |
T |
17: 74,213,720 (GRCm39) |
I811K |
probably benign |
Het |
|
| Other mutations in Or5ac22 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01771:Or5ac22
|
APN |
16 |
59,134,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01915:Or5ac22
|
APN |
16 |
59,135,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0265:Or5ac22
|
UTSW |
16 |
59,135,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0532:Or5ac22
|
UTSW |
16 |
59,134,964 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1719:Or5ac22
|
UTSW |
16 |
59,135,069 (GRCm39) |
nonsense |
probably null |
|
|
R1864:Or5ac22
|
UTSW |
16 |
59,135,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1889:Or5ac22
|
UTSW |
16 |
59,135,326 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1925:Or5ac22
|
UTSW |
16 |
59,135,027 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2973:Or5ac22
|
UTSW |
16 |
59,135,767 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R3078:Or5ac22
|
UTSW |
16 |
59,135,089 (GRCm39) |
missense |
probably benign |
|
|
R4036:Or5ac22
|
UTSW |
16 |
59,135,113 (GRCm39) |
missense |
probably benign |
|
|
R4698:Or5ac22
|
UTSW |
16 |
59,135,720 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4930:Or5ac22
|
UTSW |
16 |
59,135,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5457:Or5ac22
|
UTSW |
16 |
59,135,213 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6597:Or5ac22
|
UTSW |
16 |
59,135,713 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7341:Or5ac22
|
UTSW |
16 |
59,135,512 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7512:Or5ac22
|
UTSW |
16 |
59,135,390 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7702:Or5ac22
|
UTSW |
16 |
59,134,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8132:Or5ac22
|
UTSW |
16 |
59,134,907 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R9642:Or5ac22
|
UTSW |
16 |
59,135,610 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGCATAGAGTGGCATGATTTC -3'
(R):5'- TGGAAGGACCCTCATCTTCAC -3'
Sequencing Primer
(F):5'- CATAGAGTGGCATGATTTCACAGTAG -3'
(R):5'- TCATCTTCACACACCCATGTAC -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation