Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02376:Or4c52'

291103

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or4c52

Ensembl Gene

ENSMUSG00000059112

Gene Name

olfactory receptor family 4 subfamily C member 52

Synonyms

GA_x6K02T2Q125-51447049-51447969, Olfr1263, MOR234-2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.100) question?

Stock #

IGL02376

Quality Score

Status

Chromosome

Chromosomal Location

89845276-89846196 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89845804 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 177 (I177V)

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: I177V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000107132
Gene: ENSMUSG00000059112
AA Change: I177V

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: I177V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000216616

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216764

Predicted Effect

probably benign
Transcript: ENSMUST00000217065
AA Change: I177V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Coding Region Coverage

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb1	A	G	6: 88,815,466 (GRCm39)		probably benign	Het
Adcy3	G	A	12: 4,251,031 (GRCm39)	E597K	possibly damaging	Het
Adcy9	A	G	16: 4,236,544 (GRCm39)	V289A	probably benign	Het
Akr1d1	A	T	6: 37,507,220 (GRCm39)	D14V	probably damaging	Het
Ankrd12	T	C	17: 66,349,524 (GRCm39)		probably benign	Het
Arap3	T	C	18: 38,111,506 (GRCm39)	T1137A	possibly damaging	Het
Arhgef4	A	T	1: 34,845,140 (GRCm39)	Q77L	probably damaging	Het
Arhgef7	A	G	8: 11,867,735 (GRCm39)	T444A	probably damaging	Het
Arr3	A	C	X: 99,658,281 (GRCm39)	K281Q	probably damaging	Het
Arrdc2	A	T	8: 71,291,623 (GRCm39)	I114N	probably benign	Het
Atg2b	A	T	12: 105,611,727 (GRCm39)	F1217Y	probably damaging	Het
C1qtnf1	A	C	11: 118,338,894 (GRCm39)	Y188S	probably benign	Het
Cbx6	C	A	15: 79,712,500 (GRCm39)	R309L	probably benign	Het
Cfap410	A	G	10: 77,820,388 (GRCm39)		probably benign	Het
Chrna9	T	C	5: 66,128,502 (GRCm39)	S237P	probably damaging	Het
Dapk1	G	A	13: 60,844,208 (GRCm39)	V76I	probably benign	Het
Elk4	T	A	1: 131,942,288 (GRCm39)	N53K	probably benign	Het
Epha7	A	C	4: 28,951,287 (GRCm39)	T799P	probably damaging	Het
Exosc2	G	A	2: 31,569,887 (GRCm39)	V233M	possibly damaging	Het
Fam217b	A	G	2: 178,059,366 (GRCm39)	D3G	probably benign	Het
Farp1	T	A	14: 121,510,268 (GRCm39)	N755K	probably damaging	Het
Fer	A	G	17: 64,241,341 (GRCm39)	E327G	possibly damaging	Het
Fmnl3	A	T	15: 99,216,844 (GRCm39)	F1017Y	possibly damaging	Het
Gabbr2	A	C	4: 46,684,300 (GRCm39)	I658S	probably damaging	Het
Gemin2	A	G	12: 59,068,506 (GRCm39)	D195G	probably benign	Het
Gtf3c1	T	A	7: 125,268,168 (GRCm39)	Y875F	probably benign	Het
Hnrnpr	G	A	4: 136,046,766 (GRCm39)	G149D	probably damaging	Het
Krt74	A	C	15: 101,662,938 (GRCm39)		noncoding transcript	Het
Ltf	A	G	9: 110,858,692 (GRCm39)	D480G	probably benign	Het
Map1b	A	G	13: 99,572,103 (GRCm39)	L206P	probably damaging	Het
Meis1	T	C	11: 18,831,752 (GRCm39)	M429V	probably benign	Het
Myh4	C	A	11: 67,136,554 (GRCm39)	T444N	probably benign	Het
Nckap1l	A	T	15: 103,379,658 (GRCm39)	Y315F	possibly damaging	Het
Ndst3	A	G	3: 123,350,447 (GRCm39)	I646T	probably damaging	Het
Ndufv1	T	C	19: 4,057,823 (GRCm39)		probably null	Het
Ogdhl	T	C	14: 32,065,275 (GRCm39)	Y710H	probably damaging	Het
Otud7b	A	G	3: 96,062,354 (GRCm39)	K531R	possibly damaging	Het
Pax3	T	C	1: 78,108,929 (GRCm39)	Y243C	probably damaging	Het
Pde1a	A	G	2: 79,705,567 (GRCm39)		probably benign	Het
Pik3cb	C	T	9: 98,934,405 (GRCm39)	M813I	probably benign	Het
Prss42	A	T	9: 110,632,175 (GRCm39)	D302V	possibly damaging	Het
Rad52	T	C	6: 119,892,191 (GRCm39)		probably benign	Het
Reln	A	T	5: 22,285,789 (GRCm39)	Y393*	probably null	Het
Rhbdd3	T	C	11: 5,053,192 (GRCm39)		probably benign	Het
Sbf2	C	T	7: 110,062,163 (GRCm39)	G138D	probably damaging	Het
Slco1a1	A	T	6: 141,870,060 (GRCm39)		probably null	Het
Smg9	A	G	7: 24,114,455 (GRCm39)	I265V	probably benign	Het
Sppl2b	G	T	10: 80,703,432 (GRCm39)	E565*	probably null	Het
Stx6	T	A	1: 155,077,725 (GRCm39)	V244D	probably benign	Het
Tle4	T	C	19: 14,571,768 (GRCm39)	N78D	probably damaging	Het
Tmcc3	A	G	10: 94,414,429 (GRCm39)	I44V	possibly damaging	Het
Tnnt3	C	T	7: 142,066,295 (GRCm39)	T220I	possibly damaging	Het
Ttn	A	T	2: 76,557,811 (GRCm39)	D29798E	possibly damaging	Het
Vtcn1	A	T	3: 100,799,981 (GRCm39)	M281L	probably benign	Het
Zfp595	T	C	13: 67,464,514 (GRCm39)	K586R	possibly damaging	Het
Zfta	C	T	19: 7,399,741 (GRCm39)	P496L	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
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
R0765:Or4c52	UTSW	2	89,846,014 (GRCm39)	missense	probably benign	0.01
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

Posted On

2015-04-16