Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01309:Or8b52'

73589

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or8b52

Ensembl Gene

ENSMUSG00000063225

Gene Name

olfactory receptor family 8 subfamily B member 52

Synonyms

MOR168-2P, GA_x6K02T2PVTD-32368166-32367237, Olfr917

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

IGL01309

Quality Score

Status

Chromosome

Chromosomal Location

38576209-38577138 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 38576289 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 284 (I284L)

Ref Sequence

ENSEMBL: ENSMUSP00000075857 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076542] [ENSMUST00000215461]

AlphaFold

Q7TRC3

Predicted Effect

probably benign
Transcript: ENSMUST00000076542
AA Change: I284L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000075857
Gene: ENSMUSG00000063225
AA Change: I284L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	3.2e-42	PFAM
Pfam:7tm_1	41	289	3e-20	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213750

Predicted Effect

probably benign
Transcript: ENSMUST00000215461

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216579

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217596

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
2610318N02Rik	A	G	16: 16,931,410 (GRCm39)	V275A	possibly damaging	Het
Adamts2	A	G	11: 50,694,528 (GRCm39)	D1105G	probably benign	Het
Adgrb3	T	A	1: 25,151,352 (GRCm39)	M195L	possibly damaging	Het
Adrm1	A	G	2: 179,817,756 (GRCm39)		probably benign	Het
Atg13	T	A	2: 91,509,176 (GRCm39)	I457F	possibly damaging	Het
BC034090	T	C	1: 155,102,130 (GRCm39)	N45D	probably damaging	Het
C3	C	T	17: 57,516,652 (GRCm39)		probably benign	Het
Cacna1a	G	A	8: 85,249,657 (GRCm39)	G221D	probably damaging	Het
Calr	A	G	8: 85,573,335 (GRCm39)		probably null	Het
Chd3	C	T	11: 69,248,557 (GRCm39)	V825I	probably damaging	Het
Chdh	T	G	14: 29,757,761 (GRCm39)		probably benign	Het
Ckap5	T	C	2: 91,400,529 (GRCm39)	V627A	probably damaging	Het
Commd3	A	G	2: 18,677,289 (GRCm39)	E5G	probably benign	Het
Ddi1	T	C	9: 6,265,773 (GRCm39)	R199G	probably damaging	Het
Dennd4c	A	G	4: 86,723,724 (GRCm39)		probably benign	Het
Dok7	G	A	5: 35,236,912 (GRCm39)	G293D	possibly damaging	Het
Epm2aip1	T	C	9: 111,102,596 (GRCm39)	V523A	probably benign	Het
Fam171b	C	T	2: 83,709,791 (GRCm39)	Q488*	probably null	Het
Gabbr1	G	A	17: 37,359,499 (GRCm39)		probably null	Het
Gm5965	T	G	16: 88,575,219 (GRCm39)	S131A	possibly damaging	Het
Gpcpd1	T	C	2: 132,392,244 (GRCm39)	D235G	probably damaging	Het
Grip1	A	T	10: 119,767,207 (GRCm39)	K111*	probably null	Het
Itih4	G	T	14: 30,613,706 (GRCm39)	D308Y	probably damaging	Het
Kcnj6	A	G	16: 94,633,314 (GRCm39)	Y266H	probably damaging	Het
Lrrc41	T	C	4: 115,953,663 (GRCm39)	L783P	probably damaging	Het
Map4k5	T	C	12: 69,888,737 (GRCm39)	D298G	probably benign	Het
Mapkbp1	T	C	2: 119,849,423 (GRCm39)	F712L	probably damaging	Het
Mcoln2	T	C	3: 145,869,282 (GRCm39)		probably benign	Het
Megf11	T	A	9: 64,588,698 (GRCm39)	S532R	probably benign	Het
Mkx	T	C	18: 6,937,192 (GRCm39)	D284G	probably benign	Het
Mmp16	A	G	4: 18,116,185 (GRCm39)	I596M	probably damaging	Het
Msto1	C	A	3: 88,820,993 (GRCm39)	R34L	probably benign	Het
Mtmr9	A	G	14: 63,764,254 (GRCm39)	L491P	probably damaging	Het
Or4a66	T	G	2: 88,531,310 (GRCm39)	Y121S	probably damaging	Het
Or9s13	T	C	1: 92,548,057 (GRCm39)	M143T	probably damaging	Het
Otor	T	C	2: 142,920,532 (GRCm39)	V38A	possibly damaging	Het
Pcdhb12	G	T	18: 37,569,207 (GRCm39)	D118Y	probably damaging	Het
Prelp	T	C	1: 133,842,545 (GRCm39)	H200R	probably benign	Het
Prmt5	T	C	14: 54,747,334 (GRCm39)	Y481C	probably damaging	Het
Psg23	T	G	7: 18,348,465 (GRCm39)	D114A	probably damaging	Het
Ptger4	A	T	15: 5,272,239 (GRCm39)	Y127N	probably damaging	Het
Rabgap1l	C	A	1: 160,528,368 (GRCm39)	V385L	probably benign	Het
Rergl	T	A	6: 139,470,256 (GRCm39)	K191*	probably null	Het
Sart3	A	G	5: 113,897,311 (GRCm39)	F252S	probably damaging	Het
Sbno1	A	T	5: 124,519,769 (GRCm39)	S1169T	probably benign	Het
Serpinb8	C	T	1: 107,532,448 (GRCm39)	T180M	probably damaging	Het
Sipa1l1	G	A	12: 82,434,470 (GRCm39)	E747K	probably benign	Het
Sptb	T	A	12: 76,634,237 (GRCm39)	D2158V	probably benign	Het
Sycp2	T	G	2: 177,999,904 (GRCm39)	D1024A	probably benign	Het
Tbr1	T	G	2: 61,636,411 (GRCm39)	N262K	possibly damaging	Het
Tnrc6a	A	T	7: 122,770,717 (GRCm39)	I836F	probably benign	Het
Ttn	T	C	2: 76,769,091 (GRCm39)	E2823G	probably damaging	Het
Uqcrc1	T	A	9: 108,778,026 (GRCm39)	L441Q	possibly damaging	Het
Vmn1r180	T	C	7: 23,652,424 (GRCm39)	F196L	probably damaging	Het
Vmn2r111	T	C	17: 22,787,997 (GRCm39)	I451M	possibly damaging	Het
Zcchc7	A	T	4: 44,926,060 (GRCm39)	H353L	probably damaging	Het

Other mutations in Or8b52

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02704:Or8b52	APN	9	38,577,063 (GRCm39)	missense	possibly damaging	0.84
R0529:Or8b52	UTSW	9	38,576,808 (GRCm39)	missense	probably benign	0.11
R1575:Or8b52	UTSW	9	38,576,573 (GRCm39)	missense	probably damaging	1.00
R1681:Or8b52	UTSW	9	38,576,616 (GRCm39)	missense	probably benign
R2941:Or8b52	UTSW	9	38,576,322 (GRCm39)	missense	probably damaging	0.98
R3083:Or8b52	UTSW	9	38,576,912 (GRCm39)	missense	probably damaging	0.99
R4450:Or8b52	UTSW	9	38,577,050 (GRCm39)	missense	probably benign	0.17
R4755:Or8b52	UTSW	9	38,577,128 (GRCm39)	missense	probably benign
R4774:Or8b52	UTSW	9	38,576,519 (GRCm39)	missense	probably benign	0.21
R5322:Or8b52	UTSW	9	38,576,502 (GRCm39)	missense	probably benign	0.24
R5577:Or8b52	UTSW	9	38,576,297 (GRCm39)	missense	possibly damaging	0.49
R6101:Or8b52	UTSW	9	38,576,916 (GRCm39)	missense	probably damaging	0.99
R6105:Or8b52	UTSW	9	38,576,916 (GRCm39)	missense	probably damaging	0.99
R7084:Or8b52	UTSW	9	38,576,565 (GRCm39)	missense	probably benign	0.04
R8048:Or8b52	UTSW	9	38,577,108 (GRCm39)	missense	probably benign	0.03
R8280:Or8b52	UTSW	9	38,576,783 (GRCm39)	missense	probably damaging	1.00
R8676:Or8b52	UTSW	9	38,577,064 (GRCm39)	missense	probably benign	0.02
R8924:Or8b52	UTSW	9	38,576,780 (GRCm39)	missense	probably damaging	1.00
R9087:Or8b52	UTSW	9	38,576,711 (GRCm39)	missense	probably damaging	1.00
R9117:Or8b52	UTSW	9	38,577,106 (GRCm39)	missense	probably benign	0.03
R9220:Or8b52	UTSW	9	38,576,803 (GRCm39)	nonsense	probably null
R9317:Or8b52	UTSW	9	38,576,655 (GRCm39)	missense	probably benign	0.00
R9318:Or8b52	UTSW	9	38,576,580 (GRCm39)	missense	possibly damaging	0.78

Posted On

2013-10-07