Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03372:Or5p52'

420318

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or5p52

Ensembl Gene

ENSMUSG00000073893

Gene Name

olfactory receptor family 5 subfamily P member 52

Synonyms

Olfr472, GA_x6K02T2PBJ9-10231953-10232885, MOR204-5

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

IGL03372

Quality Score

Status

Chromosome

Chromosomal Location

107501926-107502858 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 107502577 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 218 (Y218H)

Ref Sequence

ENSEMBL: ENSMUSP00000150404 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000209670] [ENSMUST00000210420] [ENSMUST00000216937]

AlphaFold

Q8VG43

Predicted Effect

probably damaging
Transcript: ENSMUST00000209670
AA Change: Y218H

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000210420
AA Change: Y218H

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210856

Predicted Effect

probably damaging
Transcript: ENSMUST00000216937
AA Change: Y218H

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb2	C	T	4: 129,911,362 (GRCm39)	A1161V	probably benign	Het
Alpi	A	G	1: 87,028,350 (GRCm39)		probably benign	Het
Asxl1	A	T	2: 153,242,333 (GRCm39)	N961I	probably damaging	Het
Bcl2l10	A	G	9: 75,255,329 (GRCm39)	I49V	probably benign	Het
Bod1l	T	C	5: 41,962,578 (GRCm39)		probably benign	Het
Ccl20	A	G	1: 83,095,597 (GRCm39)	M54V	probably benign	Het
Cep72	A	C	13: 74,191,637 (GRCm39)	L200V	possibly damaging	Het
Clic4	T	C	4: 134,945,925 (GRCm39)	D164G	probably damaging	Het
Col5a3	G	A	9: 20,686,624 (GRCm39)	P1334S	unknown	Het
Dab2	T	C	15: 6,459,030 (GRCm39)	L293P	probably damaging	Het
Ddx50	A	T	10: 62,479,109 (GRCm39)	S140T	probably benign	Het
Dnah6	A	T	6: 73,052,833 (GRCm39)	M2897K	probably benign	Het
Dnmt3a	A	G	12: 3,952,666 (GRCm39)	E721G	probably damaging	Het
Esyt3	A	T	9: 99,218,109 (GRCm39)		probably benign	Het
Fat4	G	T	3: 38,943,283 (GRCm39)	K725N	possibly damaging	Het
Fezf1	T	C	6: 23,246,909 (GRCm39)	I308V	probably damaging	Het
Fut2	C	T	7: 45,300,193 (GRCm39)	G193E	possibly damaging	Het
Gapdhs	T	C	7: 30,432,674 (GRCm39)		probably benign	Het
Gm10109	A	T	7: 43,871,126 (GRCm39)		probably benign	Het
Gpd2	G	A	2: 57,245,519 (GRCm39)	V405I	probably damaging	Het
Gtf2e1	T	C	16: 37,356,077 (GRCm39)		probably benign	Het
Iqca1	A	G	1: 90,072,691 (GRCm39)	I63T	possibly damaging	Het
Kcmf1	A	C	6: 72,826,546 (GRCm39)	L161R	probably damaging	Het
Kif19a	G	T	11: 114,670,044 (GRCm39)	V80L	probably damaging	Het
Kif21a	A	T	15: 90,840,579 (GRCm39)	M1179K	probably benign	Het
Krtap19-2	A	G	16: 88,670,774 (GRCm39)		probably benign	Het
Ksr2	T	A	5: 117,840,783 (GRCm39)	I575N	possibly damaging	Het
L3mbtl1	A	T	2: 162,813,077 (GRCm39)		probably benign	Het
Larp1b	A	T	3: 40,978,962 (GRCm39)	H6L	possibly damaging	Het
Map4k2	T	A	19: 6,392,279 (GRCm39)		probably benign	Het
Mdh1b	T	C	1: 63,759,154 (GRCm39)	H146R	possibly damaging	Het
Morc2a	T	C	11: 3,631,813 (GRCm39)		probably benign	Het
Mvd	A	G	8: 123,170,113 (GRCm39)		probably benign	Het
Myo7b	C	T	18: 32,131,654 (GRCm39)	S514N	probably damaging	Het
Nav1	A	T	1: 135,378,641 (GRCm39)	I1610K	probably damaging	Het
Nbas	T	C	12: 13,584,473 (GRCm39)	L2095P	probably damaging	Het
Nrros	T	C	16: 31,963,588 (GRCm39)	N115S	probably damaging	Het
Otud6b	A	C	4: 14,812,519 (GRCm39)	I276R	possibly damaging	Het
P2rx6	G	A	16: 17,385,356 (GRCm39)	E150K	probably damaging	Het
Pan2	T	A	10: 128,150,996 (GRCm39)	L771Q	probably benign	Het
Pbrm1	T	A	14: 30,806,976 (GRCm39)	N1087K	probably benign	Het
Pcdhb5	G	T	18: 37,453,713 (GRCm39)	R31L	probably benign	Het
Proser3	A	C	7: 30,242,993 (GRCm39)	S195A	probably damaging	Het
Rad50	T	C	11: 53,586,121 (GRCm39)	K292E	probably benign	Het
Rbm27	G	A	18: 42,438,781 (GRCm39)	R394H	probably damaging	Het
Samd9l	A	G	6: 3,375,314 (GRCm39)	I649T	probably damaging	Het
Skint3	G	A	4: 112,113,103 (GRCm39)		probably benign	Het
Slc4a4	T	A	5: 89,304,285 (GRCm39)	L576Q	probably damaging	Het
Snx2	A	G	18: 53,349,463 (GRCm39)	D408G	probably damaging	Het
Taar2	T	C	10: 23,817,069 (GRCm39)	V203A	probably benign	Het
Tdrd6	C	T	17: 43,936,459 (GRCm39)	V1530M	probably damaging	Het
Tsc2	A	C	17: 24,838,444 (GRCm39)	L515R	probably damaging	Het
Unc13a	A	T	8: 72,108,353 (GRCm39)	M500K	probably damaging	Het
Vmn1r75	A	G	7: 11,614,496 (GRCm39)	D76G	probably benign	Het
Whrn	T	C	4: 63,336,855 (GRCm39)	D127G	probably damaging	Het

Other mutations in Or5p52

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00225:Or5p52	APN	7	107,502,311 (GRCm39)	missense	probably damaging	1.00
IGL02002:Or5p52	APN	7	107,502,497 (GRCm39)	missense	possibly damaging	0.81
IGL02320:Or5p52	APN	7	107,502,038 (GRCm39)	missense	possibly damaging	0.78
IGL02701:Or5p52	APN	7	107,502,649 (GRCm39)	missense	probably benign	0.42
IGL03022:Or5p52	APN	7	107,502,188 (GRCm39)	missense	probably benign	0.18
IGL03214:Or5p52	APN	7	107,502,173 (GRCm39)	missense	probably benign	0.00
IGL03257:Or5p52	APN	7	107,501,963 (GRCm39)	missense	probably benign	0.01
G1Funyon:Or5p52	UTSW	7	107,502,833 (GRCm39)	missense	probably benign	0.24
R0081:Or5p52	UTSW	7	107,502,212 (GRCm39)	missense	probably benign	0.00
R0669:Or5p52	UTSW	7	107,502,446 (GRCm39)	missense	probably damaging	1.00
R0932:Or5p52	UTSW	7	107,502,397 (GRCm39)	missense	possibly damaging	0.94
R1158:Or5p52	UTSW	7	107,502,130 (GRCm39)	missense	possibly damaging	0.75
R1746:Or5p52	UTSW	7	107,502,093 (GRCm39)	missense	probably benign	0.01
R3777:Or5p52	UTSW	7	107,501,954 (GRCm39)	missense	probably benign
R3778:Or5p52	UTSW	7	107,501,954 (GRCm39)	missense	probably benign
R4605:Or5p52	UTSW	7	107,502,445 (GRCm39)	missense	probably benign	0.24
R4661:Or5p52	UTSW	7	107,502,188 (GRCm39)	missense	probably benign	0.18
R4675:Or5p52	UTSW	7	107,502,567 (GRCm39)	missense	probably damaging	1.00
R5374:Or5p52	UTSW	7	107,502,698 (GRCm39)	missense	possibly damaging	0.52
R5686:Or5p52	UTSW	7	107,502,119 (GRCm39)	missense	probably damaging	0.99
R6030:Or5p52	UTSW	7	107,502,620 (GRCm39)	missense	probably benign	0.06
R6030:Or5p52	UTSW	7	107,502,620 (GRCm39)	missense	probably benign	0.06
R6164:Or5p52	UTSW	7	107,502,595 (GRCm39)	missense	probably benign	0.01
R6347:Or5p52	UTSW	7	107,502,157 (GRCm39)	missense	possibly damaging	0.68
R6995:Or5p52	UTSW	7	107,502,829 (GRCm39)	missense	probably benign	0.13
R7035:Or5p52	UTSW	7	107,502,140 (GRCm39)	missense	probably benign
R7818:Or5p52	UTSW	7	107,502,230 (GRCm39)	missense	probably benign	0.01
R7890:Or5p52	UTSW	7	107,502,250 (GRCm39)	missense	probably benign	0.01
R8189:Or5p52	UTSW	7	107,501,939 (GRCm39)	missense	probably damaging	0.99
R8301:Or5p52	UTSW	7	107,502,833 (GRCm39)	missense	probably benign	0.24
R8965:Or5p52	UTSW	7	107,502,314 (GRCm39)	missense	probably damaging	1.00
R9269:Or5p52	UTSW	7	107,502,527 (GRCm39)	missense	possibly damaging	0.94
R9478:Or5p52	UTSW	7	107,502,238 (GRCm39)	missense	probably damaging	0.99
R9566:Or5p52	UTSW	7	107,502,409 (GRCm39)	missense	possibly damaging	0.52
Z1176:Or5p52	UTSW	7	107,502,265 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02