Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02630:Or52ab4'

301240

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or52ab4

Ensembl Gene

ENSMUSG00000073950

Gene Name

olfactory receptor family 52 subfamily AB member 4

Synonyms

Olfr599, MOR23-1, GA_x6K02T2PBJ9-6047402-6048349

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

IGL02630

Quality Score

Status

Chromosome

Chromosomal Location

102987219-102988268 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 102987636 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Serine at position 125 (Y125S)

Ref Sequence

ENSEMBL: ENSMUSP00000149281 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098201] [ENSMUST00000214329]

AlphaFold

Q8VG01

Predicted Effect

probably damaging
Transcript: ENSMUST00000098201
AA Change: Y125S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000095803
Gene: ENSMUSG00000073950
AA Change: Y125S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	311	1.8e-94	PFAM
Pfam:7TM_GPCR_Srsx	37	308	1.2e-6	PFAM
Pfam:7tm_1	43	293	2.1e-16	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000214329
AA Change: Y125S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	T	A	19: 8,989,441 (GRCm39)	V3575E	probably damaging	Het
Arfgef3	G	A	10: 18,537,140 (GRCm39)		probably benign	Het
Arhgap23	A	G	11: 97,345,123 (GRCm39)	T631A	probably benign	Het
Chka	T	A	19: 3,942,112 (GRCm39)	H355Q	possibly damaging	Het
Ctsj	C	T	13: 61,149,214 (GRCm39)	A277T	probably damaging	Het
Ddx49	T	C	8: 70,753,668 (GRCm39)	D67G	probably damaging	Het
Dennd4b	T	C	3: 90,180,284 (GRCm39)	S716P	probably benign	Het
Enpp5	G	T	17: 44,393,766 (GRCm39)	D321Y	probably damaging	Het
Espl1	A	G	15: 102,205,253 (GRCm39)	E17G	probably benign	Het
Fam161b	G	A	12: 84,400,688 (GRCm39)	P428L	probably benign	Het
Fbxw7	T	C	3: 84,872,586 (GRCm39)	L256S	probably damaging	Het
Fgfr2	G	T	7: 129,830,525 (GRCm39)		probably null	Het
Foxred2	C	T	15: 77,831,362 (GRCm39)	V484I	probably benign	Het
Gm4744	T	A	6: 40,927,403 (GRCm39)		probably benign	Het
H3c1	C	T	13: 23,946,231 (GRCm39)	V36M	probably benign	Het
Hipk2	T	C	6: 38,795,456 (GRCm39)	N271S	possibly damaging	Het
Ifna1	A	G	4: 88,768,496 (GRCm39)	D58G	possibly damaging	Het
Igkv4-80	A	T	6: 68,993,680 (GRCm39)	Y70*	probably null	Het
Ivns1abp	G	A	1: 151,235,386 (GRCm39)	R218H	probably damaging	Het
Kng1	A	T	16: 22,898,595 (GRCm39)		probably benign	Het
Lars1	T	C	18: 42,390,234 (GRCm39)	D11G	probably damaging	Het
Lgals12	T	C	19: 7,578,607 (GRCm39)		probably benign	Het
Lpar4	T	A	X: 105,974,817 (GRCm39)	F334I	probably benign	Het
Muc5b	G	A	7: 141,416,968 (GRCm39)	G3305S	probably benign	Het
Nalcn	T	C	14: 123,555,291 (GRCm39)	D864G	probably benign	Het
Ndor1	T	C	2: 25,145,299 (GRCm39)	E22G	probably damaging	Het
Nt5c2	T	A	19: 46,912,749 (GRCm39)	M69L	probably benign	Het
Or8k22	T	C	2: 86,163,212 (GRCm39)	I163V	probably benign	Het
Pde12	A	T	14: 26,387,552 (GRCm39)	H455Q	probably damaging	Het
Pdia6	A	G	12: 17,324,422 (GRCm39)	H91R	probably benign	Het
Pdk4	A	T	6: 5,491,671 (GRCm39)	I179K	possibly damaging	Het
Prl2c1	T	C	13: 28,041,480 (GRCm39)		probably benign	Het
Rasgrf2	C	T	13: 92,267,900 (GRCm39)	E35K	probably damaging	Het
Rnf123	G	A	9: 107,945,501 (GRCm39)	R390*	probably null	Het
Sash1	T	A	10: 8,620,299 (GRCm39)	M454L	probably benign	Het
Secisbp2	C	A	13: 51,832,942 (GRCm39)	T608K	possibly damaging	Het
Slco1a7	T	C	6: 141,668,836 (GRCm39)	Y532C	probably damaging	Het
Slmap	A	G	14: 26,143,586 (GRCm39)	V750A	possibly damaging	Het
Spaca6	T	A	17: 18,051,351 (GRCm39)	L9Q	probably damaging	Het
Sycp1	T	C	3: 102,786,080 (GRCm39)		probably benign	Het
Sycp2	A	T	2: 178,043,712 (GRCm39)	D131E	probably damaging	Het
Tc2n	A	T	12: 101,659,404 (GRCm39)	D176E	probably damaging	Het
Thoc7	T	C	14: 13,953,154 (GRCm38)	I83V	probably damaging	Het
Trank1	T	C	9: 111,202,143 (GRCm39)	V1590A	possibly damaging	Het
Tyrp1	T	C	4: 80,758,994 (GRCm39)	V289A	possibly damaging	Het
Ube2dnl1	T	A	X: 113,815,483 (GRCm39)	C119*	probably null	Het
Vmn1r191	T	A	13: 22,363,431 (GRCm39)	I108F	possibly damaging	Het
Zfp710	T	A	7: 79,731,789 (GRCm39)	I322N	probably damaging	Het

Other mutations in Or52ab4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01386:Or52ab4	APN	7	102,987,974 (GRCm39)	nonsense	probably null
IGL01744:Or52ab4	APN	7	102,987,435 (GRCm39)	missense	probably damaging	0.98
IGL02011:Or52ab4	APN	7	102,988,056 (GRCm39)	missense	probably damaging	0.98
IGL02328:Or52ab4	APN	7	102,987,497 (GRCm39)	missense	probably damaging	1.00
IGL03119:Or52ab4	APN	7	102,987,929 (GRCm39)	missense	probably damaging	1.00
PIT4468001:Or52ab4	UTSW	7	102,987,807 (GRCm39)	missense	probably damaging	1.00
R0599:Or52ab4	UTSW	7	102,987,393 (GRCm39)	missense	probably damaging	1.00
R4084:Or52ab4	UTSW	7	102,987,527 (GRCm39)	missense	probably damaging	0.99
R5068:Or52ab4	UTSW	7	102,987,229 (GRCm39)	start gained	probably null
R5069:Or52ab4	UTSW	7	102,987,229 (GRCm39)	start gained	probably null
R5280:Or52ab4	UTSW	7	102,987,708 (GRCm39)	missense	probably benign
R5816:Or52ab4	UTSW	7	102,988,202 (GRCm39)	missense	probably benign	0.00
R6560:Or52ab4	UTSW	7	102,987,945 (GRCm39)	missense	probably benign	0.02
R7001:Or52ab4	UTSW	7	102,987,428 (GRCm39)	missense	possibly damaging	0.51
R7890:Or52ab4	UTSW	7	102,987,537 (GRCm39)	missense	probably benign
R8295:Or52ab4	UTSW	7	102,987,474 (GRCm39)	missense	probably benign	0.08
R8430:Or52ab4	UTSW	7	102,988,164 (GRCm39)	missense	probably benign	0.01
R8946:Or52ab4	UTSW	7	102,987,573 (GRCm39)	missense	probably damaging	1.00
R9045:Or52ab4	UTSW	7	102,987,903 (GRCm39)	missense	probably damaging	0.99
R9402:Or52ab4	UTSW	7	102,988,196 (GRCm39)	missense	probably benign

Posted On

2015-04-16