Incidental Mutation 'R5429:Or13a27'
| ID |
427070 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or13a27
|
| Ensembl Gene |
ENSMUSG00000060112 |
| Gene Name |
olfactory receptor family 13 subfamily A member 27 |
| Synonyms |
MOR253-6, Olfr60, GA_x6K02T2PBJ9-42496183-42495251, IH6 |
| MMRRC Submission |
042995-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
R5429 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
139924965-139925900 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 139925186 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 239
(F239L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150685
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075470]
[ENSMUST00000210932]
[ENSMUST00000211031]
[ENSMUST00000215023]
[ENSMUST00000216027]
|
| AlphaFold |
Q8VGL4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000075470
AA Change: F239L
PolyPhen 2
Score 0.671 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000074916
Gene: ENSMUSG00000060112
AA Change: F239L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
32 |
308 |
1.2e-50 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
36 |
161 |
1.8e-8 |
PFAM |
|
Pfam:7tm_1
|
42 |
291 |
2e-21 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209726
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000210932
AA Change: F239L
PolyPhen 2
Score 0.671 (Sensitivity: 0.86; Specificity: 0.91)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000211031
AA Change: F239L
PolyPhen 2
Score 0.671 (Sensitivity: 0.86; Specificity: 0.91)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211655
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000215023
AA Change: F239L
PolyPhen 2
Score 0.671 (Sensitivity: 0.86; Specificity: 0.91)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000216027
AA Change: F239L
PolyPhen 2
Score 0.671 (Sensitivity: 0.86; Specificity: 0.91)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap13 |
T |
G |
7: 75,252,652 (GRCm39) |
S261A |
possibly damaging |
Het |
| Ankrd34a |
G |
A |
3: 96,504,837 (GRCm39) |
G14R |
probably damaging |
Het |
| Auts2 |
G |
A |
5: 131,501,173 (GRCm39) |
T289M |
probably damaging |
Het |
| Btaf1 |
G |
A |
19: 36,972,257 (GRCm39) |
V1331I |
possibly damaging |
Het |
| Ciz1 |
T |
A |
2: 32,266,055 (GRCm39) |
I609K |
possibly damaging |
Het |
| Clca3b |
C |
T |
3: 144,552,220 (GRCm39) |
V154I |
probably damaging |
Het |
| Csde1 |
A |
G |
3: 102,960,157 (GRCm39) |
T564A |
possibly damaging |
Het |
| Csrnp2 |
A |
G |
15: 100,379,935 (GRCm39) |
V452A |
probably benign |
Het |
| Ctnnd1 |
C |
T |
2: 84,447,133 (GRCm39) |
V371M |
probably damaging |
Het |
| Dock6 |
T |
C |
9: 21,744,177 (GRCm39) |
D677G |
probably damaging |
Het |
| Filip1l |
A |
T |
16: 57,390,618 (GRCm39) |
E402V |
probably damaging |
Het |
| Gad1-ps |
G |
A |
10: 99,281,009 (GRCm39) |
|
noncoding transcript |
Het |
| Ghr |
G |
A |
15: 3,418,157 (GRCm39) |
Q37* |
probably null |
Het |
| Gm10770 |
C |
T |
2: 150,021,343 (GRCm39) |
R58H |
probably benign |
Het |
| Gm12789 |
T |
C |
4: 101,847,158 (GRCm39) |
Y148H |
possibly damaging |
Het |
| Herc4 |
T |
A |
10: 63,110,792 (GRCm39) |
N234K |
probably benign |
Het |
| Itih3 |
A |
G |
14: 30,645,478 (GRCm39) |
V10A |
probably benign |
Het |
| Kat14 |
T |
A |
2: 144,235,243 (GRCm39) |
D234E |
probably benign |
Het |
| Kif13a |
A |
G |
13: 46,926,245 (GRCm39) |
|
probably null |
Het |
| Kif2b |
A |
G |
11: 91,468,055 (GRCm39) |
V76A |
probably benign |
Het |
| Mboat1 |
A |
G |
13: 30,403,650 (GRCm39) |
T150A |
probably benign |
Het |
| Mfsd1 |
T |
A |
3: 67,507,293 (GRCm39) |
L398H |
probably damaging |
Het |
| Myt1l |
G |
A |
12: 29,882,331 (GRCm39) |
G509R |
unknown |
Het |
| Nfx1 |
T |
C |
4: 41,004,343 (GRCm39) |
C705R |
probably damaging |
Het |
| Or2ak5 |
T |
A |
11: 58,611,350 (GRCm39) |
N175Y |
probably damaging |
Het |
| Pcdh10 |
T |
C |
3: 45,338,635 (GRCm39) |
S931P |
probably benign |
Het |
| Pdpk1 |
T |
C |
17: 24,310,534 (GRCm39) |
E205G |
probably benign |
Het |
| Ppp2r2a |
A |
T |
14: 67,261,205 (GRCm39) |
F172I |
probably damaging |
Het |
| Ppp2r5e |
T |
A |
12: 75,500,537 (GRCm39) |
D452V |
probably damaging |
Het |
| Rims2 |
A |
T |
15: 39,208,751 (GRCm39) |
T185S |
probably damaging |
Het |
| Rpusd4 |
T |
C |
9: 35,183,898 (GRCm39) |
V209A |
probably benign |
Het |
| Safb |
T |
C |
17: 56,895,822 (GRCm39) |
V20A |
probably benign |
Het |
| Scaf8 |
C |
A |
17: 3,247,385 (GRCm39) |
P903T |
probably benign |
Het |
| Slc30a7 |
A |
G |
3: 115,800,574 (GRCm39) |
S31P |
possibly damaging |
Het |
| Slc9b1 |
T |
C |
3: 135,079,024 (GRCm39) |
|
probably null |
Het |
| Sntb1 |
C |
G |
15: 55,506,191 (GRCm39) |
G461R |
probably damaging |
Het |
| Tbc1d32 |
T |
C |
10: 55,904,089 (GRCm39) |
D1226G |
probably damaging |
Het |
| Tlnrd1 |
G |
T |
7: 83,531,522 (GRCm39) |
T303N |
probably damaging |
Het |
| Tmc1 |
G |
T |
19: 20,766,986 (GRCm39) |
N738K |
possibly damaging |
Het |
| Tmem41a |
A |
G |
16: 21,753,606 (GRCm39) |
I255T |
probably benign |
Het |
| Trim7 |
G |
A |
11: 48,740,782 (GRCm39) |
C293Y |
probably damaging |
Het |
| Trpc6 |
C |
T |
9: 8,634,075 (GRCm39) |
Q385* |
probably null |
Het |
| Ttc39b |
A |
G |
4: 83,162,190 (GRCm39) |
I330T |
possibly damaging |
Het |
| Vil1 |
C |
T |
1: 74,471,490 (GRCm39) |
T757I |
probably benign |
Het |
| Zfp462 |
T |
C |
4: 55,060,077 (GRCm39) |
V1201A |
probably damaging |
Het |
| Zfp473 |
T |
A |
7: 44,382,272 (GRCm39) |
E686V |
possibly damaging |
Het |
| Zfp998 |
G |
A |
13: 66,579,887 (GRCm39) |
P199S |
probably benign |
Het |
|
| Other mutations in Or13a27 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00225:Or13a27
|
APN |
7 |
139,925,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03493:Or13a27
|
APN |
7 |
139,925,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0413:Or13a27
|
UTSW |
7 |
139,925,108 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0652:Or13a27
|
UTSW |
7 |
139,925,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1848:Or13a27
|
UTSW |
7 |
139,925,900 (GRCm39) |
start codon destroyed |
probably benign |
|
|
R1908:Or13a27
|
UTSW |
7 |
139,925,378 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1909:Or13a27
|
UTSW |
7 |
139,925,378 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5133:Or13a27
|
UTSW |
7 |
139,925,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5320:Or13a27
|
UTSW |
7 |
139,925,548 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6595:Or13a27
|
UTSW |
7 |
139,925,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6621:Or13a27
|
UTSW |
7 |
139,925,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7300:Or13a27
|
UTSW |
7 |
139,925,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7409:Or13a27
|
UTSW |
7 |
139,925,318 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7562:Or13a27
|
UTSW |
7 |
139,925,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7646:Or13a27
|
UTSW |
7 |
139,925,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8158:Or13a27
|
UTSW |
7 |
139,925,162 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8233:Or13a27
|
UTSW |
7 |
139,925,411 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8238:Or13a27
|
UTSW |
7 |
139,925,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8338:Or13a27
|
UTSW |
7 |
139,925,306 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9794:Or13a27
|
UTSW |
7 |
139,925,483 (GRCm39) |
nonsense |
probably null |
|
|
Z1088:Or13a27
|
UTSW |
7 |
139,925,717 (GRCm39) |
missense |
probably benign |
0.42 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCGAGCTTGACATCTTTGTTC -3'
(R):5'- TGTCATTCTGTGGACCCAAG -3'
Sequencing Primer
(F):5'- TCCTCAATGTGTAAATGAGGGG -3'
(R):5'- AAGGTCATCACCCACTTCTTCTGTG -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation