Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02698:Or52a20'

304000

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or52a20

Ensembl Gene

ENSMUSG00000094822

Gene Name

olfactory receptor family 52 subfamily A member 20

Synonyms

GA_x6K02T2PBJ9-6440320-6440766, GA_x6K02T2L9TJ-1933-2295, Olfr243, Olfr627, MOR22-4

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

IGL02698

Quality Score

Status

Chromosome

Chromosomal Location

103365803-103366753 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103366485 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 228 (V228A)

Ref Sequence

ENSEMBL: ENSMUSP00000150329 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098194] [ENSMUST00000215723]

AlphaFold

E9PV96

Predicted Effect

probably damaging
Transcript: ENSMUST00000098194
AA Change: V228A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000095796
Gene: ENSMUSG00000094822
AA Change: V228A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	313	1.6e-105	PFAM
Pfam:7tm_1	43	295	4.5e-15	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000215723
AA Change: V228A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arpp21	T	A	9: 112,014,812 (GRCm39)		probably benign	Het
Car8	A	T	4: 8,185,598 (GRCm39)	I186N	probably benign	Het
Ccdc174	G	A	6: 91,867,834 (GRCm39)	S183N	probably benign	Het
Ccdc66	T	A	14: 27,212,749 (GRCm39)	K525*	probably null	Het
Cebpz	A	G	17: 79,243,003 (GRCm39)	V217A	probably benign	Het
Cfap36	C	A	11: 29,197,014 (GRCm39)		probably null	Het
Cpne4	T	C	9: 104,909,984 (GRCm39)	V527A	probably damaging	Het
Crh	T	G	3: 19,748,354 (GRCm39)	D96A	possibly damaging	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Dcp1a	A	T	14: 30,227,499 (GRCm39)		probably benign	Het
Ddhd1	A	T	14: 45,842,663 (GRCm39)		probably benign	Het
Dis3l2	C	T	1: 86,976,551 (GRCm39)		probably benign	Het
Dop1a	T	C	9: 86,406,412 (GRCm39)		probably benign	Het
Etv3	A	G	3: 87,443,885 (GRCm39)	T490A	possibly damaging	Het
Fastkd2	A	G	1: 63,787,158 (GRCm39)	T531A	probably benign	Het
Fat1	C	T	8: 45,476,201 (GRCm39)	A1749V	probably benign	Het
Fgfr1	T	A	8: 26,063,624 (GRCm39)	L761*	probably null	Het
Gcc2	A	G	10: 58,107,112 (GRCm39)	K683E	possibly damaging	Het
Gm5117	C	T	8: 32,229,767 (GRCm39)		noncoding transcript	Het
Hif1a	T	C	12: 73,977,545 (GRCm39)		probably null	Het
Inha	A	G	1: 75,486,527 (GRCm39)	E274G	probably damaging	Het
Itih2	G	T	2: 10,135,312 (GRCm39)	P26H	probably damaging	Het
Kif23	G	A	9: 61,832,283 (GRCm39)	T620I	possibly damaging	Het
Klhl30	T	C	1: 91,281,429 (GRCm39)	F10S	probably damaging	Het
Kmt2b	T	C	7: 30,278,118 (GRCm39)		probably benign	Het
Lmf2	A	C	15: 89,238,357 (GRCm39)	L174R	probably damaging	Het
Med13l	T	C	5: 118,900,894 (GRCm39)	L2216P	probably damaging	Het
Mmp1b	T	A	9: 7,384,877 (GRCm39)	L257F	probably damaging	Het
Net1	A	G	13: 3,937,569 (GRCm39)		probably null	Het
Nfasc	A	G	1: 132,562,475 (GRCm39)	V100A	probably benign	Het
Nr4a2	A	G	2: 56,998,172 (GRCm39)	F535S	probably damaging	Het
Ntn4	G	T	10: 93,480,521 (GRCm39)	A45S	probably benign	Het
Or2y1c	T	A	11: 49,361,690 (GRCm39)	F237L	probably benign	Het
Or4a27	T	A	2: 88,559,815 (GRCm39)	I43F	probably damaging	Het
Or5w17	T	A	2: 87,584,188 (GRCm39)	K50*	probably null	Het
Or8c9	A	G	9: 38,241,506 (GRCm39)	T208A	probably benign	Het
Pappa	A	T	4: 65,099,257 (GRCm39)	E592V	probably damaging	Het
Pate10	T	C	9: 35,652,416 (GRCm39)		probably benign	Het
Pi4ka	A	T	16: 17,109,032 (GRCm39)	I1630N	probably damaging	Het
Ptprb	A	G	10: 116,199,185 (GRCm39)	D1997G	probably benign	Het
Rc3h2	A	T	2: 37,295,312 (GRCm39)	S235T	probably damaging	Het
S1pr1	T	A	3: 115,505,746 (GRCm39)	K283*	probably null	Het
Scn5a	T	A	9: 119,350,163 (GRCm39)	T904S	probably damaging	Het
Sema6d	T	C	2: 124,495,643 (GRCm39)	L30P	possibly damaging	Het
Slc26a7	A	C	4: 14,593,867 (GRCm39)	S83A	possibly damaging	Het
Slco1a6	C	A	6: 142,048,737 (GRCm39)	G348*	probably null	Het
Srgap3	C	T	6: 112,723,889 (GRCm39)	V524I	probably damaging	Het
Stxbp3-ps	A	T	19: 9,535,688 (GRCm39)		noncoding transcript	Het
Sv2b	C	T	7: 74,790,726 (GRCm39)		probably null	Het
Sympk	T	C	7: 18,779,559 (GRCm39)	I663T	probably benign	Het
Ttn	C	A	2: 76,775,115 (GRCm39)	V1976L	probably damaging	Het
Uqcrc1	T	C	9: 108,777,011 (GRCm39)		probably null	Het
Vmn2r111	T	C	17: 22,790,226 (GRCm39)	Y260C	probably damaging	Het

Other mutations in Or52a20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01097:Or52a20	APN	7	103,366,328 (GRCm39)	missense	probably benign	0.06
IGL01550:Or52a20	APN	7	103,366,204 (GRCm39)	missense	probably damaging	0.98
IGL02795:Or52a20	APN	7	103,366,090 (GRCm39)	missense	probably benign	0.24
IGL02949:Or52a20	APN	7	103,366,427 (GRCm39)	missense	probably benign	0.00
IGL03326:Or52a20	APN	7	103,366,069 (GRCm39)	missense	probably benign	0.12
R1605:Or52a20	UTSW	7	103,365,858 (GRCm39)	missense	probably damaging	0.99
R1676:Or52a20	UTSW	7	103,366,319 (GRCm39)	missense	probably benign
R1973:Or52a20	UTSW	7	103,365,804 (GRCm39)	start codon destroyed	probably null	0.93
R2897:Or52a20	UTSW	7	103,366,749 (GRCm39)	missense	probably benign
R4667:Or52a20	UTSW	7	103,365,845 (GRCm39)	missense	probably benign	0.00
R4883:Or52a20	UTSW	7	103,365,914 (GRCm39)	missense	probably benign
R4955:Or52a20	UTSW	7	103,365,912 (GRCm39)	missense	probably benign	0.42
R5322:Or52a20	UTSW	7	103,366,319 (GRCm39)	missense	probably benign
R5384:Or52a20	UTSW	7	103,366,562 (GRCm39)	missense	probably benign	0.12
R5386:Or52a20	UTSW	7	103,366,562 (GRCm39)	missense	probably benign	0.12
R5523:Or52a20	UTSW	7	103,366,687 (GRCm39)	nonsense	probably null
R7307:Or52a20	UTSW	7	103,366,173 (GRCm39)	missense	probably damaging	0.96
R7743:Or52a20	UTSW	7	103,366,560 (GRCm39)	missense	possibly damaging	0.49
R8006:Or52a20	UTSW	7	103,366,532 (GRCm39)	missense	probably damaging	0.98
R9106:Or52a20	UTSW	7	103,366,737 (GRCm39)	missense	probably benign
R9581:Or52a20	UTSW	7	103,365,788 (GRCm39)	start gained	probably benign
R9681:Or52a20	UTSW	7	103,366,475 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16