Mutagenetix > Incidental Mutation

Incidental Mutation 'R0765:Or4c52'

72590

Institutional Source

Beutler Lab

Gene Symbol

Or4c52

Ensembl Gene

ENSMUSG00000059112

Gene Name

olfactory receptor family 4 subfamily C member 52

Synonyms

GA_x6K02T2Q125-51447049-51447969, Olfr1263, MOR234-2

MMRRC Submission

038945-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R0765 (G1)

Quality Score

158

Status

Validated

Chromosome

Chromosomal Location

89845276-89846196 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 89846014 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 247 (V247I)

Ref Sequence

ENSEMBL: ENSMUSP00000150959 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000111507] [ENSMUST00000214382] [ENSMUST00000216616] [ENSMUST00000217065]

AlphaFold

Q8VG63

Predicted Effect

probably benign
Transcript: ENSMUST00000111507
AA Change: V247I

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000107132
Gene: ENSMUSG00000059112
AA Change: V247I

Domain	Start	End	E-Value	Type
Pfam:7tm_4	25	299	7.6e-42	PFAM
Pfam:7TM_GPCR_Srsx	30	297	1.7e-5	PFAM
Pfam:7tm_1	36	282	2.3e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000214382
AA Change: V247I

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

Predicted Effect

probably benign
Transcript: ENSMUST00000216616

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216764

Predicted Effect

probably benign
Transcript: ENSMUST00000217065
AA Change: V247I

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 96.8%
20x: 92.7%

Validation Efficiency

100% (62/62)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd16a	T	A	17: 35,320,827 (GRCm39)	V425D	probably benign	Het
Ano9	T	G	7: 140,687,097 (GRCm39)	I381L	probably damaging	Het
Apob	C	T	12: 8,066,518 (GRCm39)	L4496F	probably benign	Het
Arhgef38	C	T	3: 132,822,344 (GRCm39)	E724K	probably damaging	Het
Atp8b4	T	A	2: 126,214,070 (GRCm39)		probably null	Het
Baiap2l1	G	T	5: 144,214,513 (GRCm39)	P394T	probably damaging	Het
Btbd8	T	A	5: 107,654,800 (GRCm39)	D354E	probably benign	Het
Cnbp	C	A	6: 87,822,155 (GRCm39)	C122F	probably damaging	Het
Col3a1	A	G	1: 45,375,811 (GRCm39)		probably benign	Het
Colq	T	G	14: 31,247,994 (GRCm39)	D408A	possibly damaging	Het
Cuzd1	A	T	7: 130,917,824 (GRCm39)	S259T	probably benign	Het
Cyp3a57	A	G	5: 145,327,220 (GRCm39)		probably benign	Het
Dbn1	C	A	13: 55,630,107 (GRCm39)	V112F	probably damaging	Het
Dcc	T	A	18: 71,496,061 (GRCm39)	D1028V	probably damaging	Het
Dnajb11	T	C	16: 22,681,318 (GRCm39)	V32A	probably damaging	Het
Dsg4	G	A	18: 20,587,703 (GRCm39)		probably benign	Het
Dyrk1b	C	T	7: 27,885,136 (GRCm39)		probably benign	Het
Ebf1	T	A	11: 44,759,987 (GRCm39)	M208K	probably damaging	Het
Efhc1	A	G	1: 21,048,876 (GRCm39)	I430V	probably benign	Het
Elovl2	T	C	13: 41,340,942 (GRCm39)	Y181C	probably benign	Het
Fras1	A	G	5: 96,700,655 (GRCm39)	Q225R	probably benign	Het
Frmd3	G	A	4: 74,080,004 (GRCm39)	R332Q	probably damaging	Het
Glg1	A	G	8: 111,886,429 (GRCm39)		probably null	Het
Hmcn1	G	A	1: 150,684,538 (GRCm39)	T344M	probably damaging	Het
Il1rap	T	G	16: 26,529,382 (GRCm39)		probably null	Het
Klra1	A	T	6: 130,356,055 (GRCm39)		probably benign	Het
Larp7	C	A	3: 127,339,814 (GRCm39)	K289N	probably damaging	Het
Lgr6	C	A	1: 134,921,624 (GRCm39)	G240V	probably benign	Het
Lrp10	G	T	14: 54,705,547 (GRCm39)	D246Y	probably damaging	Het
Map3k20	G	A	2: 72,202,269 (GRCm39)	V167I	probably damaging	Het
Med23	T	C	10: 24,776,608 (GRCm39)	S347P	probably damaging	Het
Mybph	T	C	1: 134,125,234 (GRCm39)	V254A	possibly damaging	Het
Ndufv2	A	G	17: 66,408,073 (GRCm39)		probably benign	Het
Nuf2	A	T	1: 169,350,505 (GRCm39)		probably benign	Het
Nup210l	T	C	3: 90,027,184 (GRCm39)	Y189H	probably damaging	Het
Or51t4	C	T	7: 102,597,939 (GRCm39)	T79I	probably damaging	Het
Or5m13	T	C	2: 85,749,049 (GRCm39)	L260P	probably damaging	Het
Pdgfra	C	A	5: 75,348,648 (GRCm39)		probably benign	Het
Phlpp1	T	C	1: 106,320,013 (GRCm39)	L1336P	probably damaging	Het
Prpf38b	T	C	3: 108,818,734 (GRCm39)	T9A	possibly damaging	Het
Rnf213	G	A	11: 119,313,921 (GRCm39)		probably null	Het
Saal1	A	T	7: 46,349,071 (GRCm39)	V281E	possibly damaging	Het
Slc17a3	C	T	13: 24,030,879 (GRCm39)	Q186*	probably null	Het
Slc6a2	A	G	8: 93,715,659 (GRCm39)	T266A	probably damaging	Het
Snai2	T	C	16: 14,524,668 (GRCm39)	V58A	possibly damaging	Het
Srfbp1	T	C	18: 52,623,507 (GRCm39)		probably benign	Het
Sucla2	C	T	14: 73,798,074 (GRCm39)		probably benign	Het
Tesk1	C	T	4: 43,446,706 (GRCm39)	P365S	possibly damaging	Het
Tmem127	C	A	2: 127,099,069 (GRCm39)	T201K	probably damaging	Het
Trim17	T	G	11: 58,862,195 (GRCm39)	V409G	possibly damaging	Het
Trim43c	C	T	9: 88,723,969 (GRCm39)	T165I	probably benign	Het
Ush2a	C	A	1: 188,680,771 (GRCm39)	F4916L	possibly damaging	Het
Vmn1r89	A	G	7: 12,953,467 (GRCm39)	M68V	probably benign	Het
Vmn2r105	C	T	17: 20,447,973 (GRCm39)	E284K	probably benign	Het
Vmn2r105	T	C	17: 20,448,119 (GRCm39)	D235G	probably damaging	Het
Vmn2r-ps134	C	T	17: 23,665,015 (GRCm39)		noncoding transcript	Het
Zdbf2	G	A	1: 63,344,882 (GRCm39)	S1087N	possibly damaging	Het
Zfp534	G	A	4: 147,758,693 (GRCm39)	P659S	probably damaging	Het

Other mutations in Or4c52

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01352:Or4c52	APN	2	89,846,063 (GRCm39)	missense	probably damaging	1.00
IGL01512:Or4c52	APN	2	89,845,636 (GRCm39)	missense	probably damaging	1.00
IGL01722:Or4c52	APN	2	89,845,351 (GRCm39)	missense	probably benign	0.39
IGL01787:Or4c52	APN	2	89,845,655 (GRCm39)	missense	probably damaging	1.00
IGL02376:Or4c52	APN	2	89,845,804 (GRCm39)	missense	probably benign	0.00
IGL03408:Or4c52	APN	2	89,845,915 (GRCm39)	missense	probably benign	0.35
R0367:Or4c52	UTSW	2	89,846,116 (GRCm39)	missense	probably damaging	0.99
R1158:Or4c52	UTSW	2	89,845,598 (GRCm39)	missense	possibly damaging	0.94
R1705:Or4c52	UTSW	2	89,845,855 (GRCm39)	missense	possibly damaging	0.90
R1794:Or4c52	UTSW	2	89,845,364 (GRCm39)	missense	probably damaging	1.00
R2197:Or4c52	UTSW	2	89,845,768 (GRCm39)	missense	probably damaging	1.00
R2347:Or4c52	UTSW	2	89,845,958 (GRCm39)	missense	possibly damaging	0.82
R2442:Or4c52	UTSW	2	89,845,685 (GRCm39)	missense	probably benign
R3160:Or4c52	UTSW	2	89,845,365 (GRCm39)	nonsense	probably null
R3162:Or4c52	UTSW	2	89,845,365 (GRCm39)	nonsense	probably null
R4298:Or4c52	UTSW	2	89,845,993 (GRCm39)	missense	probably benign	0.13
R4898:Or4c52	UTSW	2	89,845,762 (GRCm39)	missense	probably damaging	1.00
R5340:Or4c52	UTSW	2	89,845,706 (GRCm39)	missense	probably benign
R6280:Or4c52	UTSW	2	89,845,393 (GRCm39)	missense	possibly damaging	0.62
R6367:Or4c52	UTSW	2	89,845,360 (GRCm39)	missense	probably benign	0.00
R6556:Or4c52	UTSW	2	89,845,438 (GRCm39)	missense	probably damaging	1.00
R7086:Or4c52	UTSW	2	89,845,594 (GRCm39)	missense	probably benign	0.07
R7502:Or4c52	UTSW	2	89,845,355 (GRCm39)	missense	probably benign	0.15
R7585:Or4c52	UTSW	2	89,845,393 (GRCm39)	missense	probably damaging	0.99
R7963:Or4c52	UTSW	2	89,846,003 (GRCm39)	missense	possibly damaging	0.73
R8062:Or4c52	UTSW	2	89,846,080 (GRCm39)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- TCAGTCACCATTTTCATCAGCCCAG -3'
(R):5'- AGCTTTCCTCATTCGACCCCAGAG -3'

Sequencing Primer
(F):5'- TCAATGGCTGCATGACTCAG -3'
(R):5'- GACCCCAGAGCTTCTTCATAAC -3'

Posted On

2013-09-30