Mutagenetix > Incidental Mutation

Incidental Mutation 'R8676:Or8b52'

661392

Institutional Source

Beutler Lab

Gene Symbol

Or8b52

Ensembl Gene

ENSMUSG00000063225

Gene Name

olfactory receptor family 8 subfamily B member 52

Synonyms

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

MMRRC Submission

068531-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R8676 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38576209-38577138 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 38577064 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 25 (I25M)

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: I25M

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000075857
Gene: ENSMUSG00000063225
AA Change: I25M

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

probably benign
Transcript: ENSMUST00000215461

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

93% (54/58)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm4	G	A	4: 144,396,683 (GRCm39)	R350C	possibly damaging	Het
Acsm3	T	A	7: 119,374,392 (GRCm39)	S281R	probably damaging	Het
Adipor2	G	T	6: 119,340,447 (GRCm39)		probably benign	Het
Alk	T	C	17: 72,204,936 (GRCm39)	S1079G	probably damaging	Het
Ankrd27	T	C	7: 35,302,009 (GRCm39)		probably null	Het
Anxa6	C	A	11: 54,892,108 (GRCm39)	E283*	probably null	Het
Bnc2	T	C	4: 84,194,550 (GRCm39)	H858R	possibly damaging	Het
Btnl6	T	C	17: 34,727,043 (GRCm39)	S496G	probably benign	Het
Ccdc88a	T	C	11: 29,410,860 (GRCm39)	S449P	probably benign	Het
Cdh23	A	T	10: 60,246,689 (GRCm39)	D916E	probably damaging	Het
Cfap43	A	T	19: 47,736,456 (GRCm39)	L1345H	possibly damaging	Het
Cyld	A	T	8: 89,456,138 (GRCm39)	H396L	probably benign	Het
Cyp20a1	A	G	1: 60,418,579 (GRCm39)	T340A	possibly damaging	Het
Czib	A	G	4: 107,752,796 (GRCm39)	N152D	unknown	Het
Dera	A	T	6: 137,807,202 (GRCm39)	I217F	probably damaging	Het
Dnah11	A	G	12: 118,154,539 (GRCm39)	L247P	probably damaging	Het
Eftud2	G	A	11: 102,759,447 (GRCm39)	T152M	probably damaging	Het
Entrep1	T	C	19: 23,965,858 (GRCm39)	K214E	probably damaging	Het
Epb41l2	C	T	10: 25,319,674 (GRCm39)	T169M	probably benign	Het
Fam186a	T	C	15: 99,845,023 (GRCm39)	D407G	unknown	Het
Gli3	T	A	13: 15,889,619 (GRCm39)	C578S	probably damaging	Het
Gm6408	A	G	5: 146,419,237 (GRCm39)	N84S	probably benign	Het
Heatr5a	AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGTGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA	AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA	12: 51,934,702 (GRCm39)		probably benign	Het
Herc2	C	A	7: 55,838,361 (GRCm39)	T3296K	probably damaging	Het
Hnf4g	A	T	3: 3,708,133 (GRCm39)		probably benign	Het
Hyal4	C	A	6: 24,755,826 (GRCm39)	Q15K	probably damaging	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Kcna3	A	G	3: 106,943,908 (GRCm39)	E57G	probably damaging	Het
Kcnc3	C	A	7: 44,241,020 (GRCm39)	D237E	probably benign	Het
Map3k8	A	G	18: 4,343,137 (GRCm39)	V130A	probably benign	Het
Mpp7	A	G	18: 7,440,430 (GRCm39)		probably null	Het
Mtres1	A	G	10: 43,408,933 (GRCm39)	L70S	probably benign	Het
Myh13	T	A	11: 67,233,311 (GRCm39)	L610Q	probably damaging	Het
Or13p5	C	A	4: 118,592,235 (GRCm39)	P170T	probably damaging	Het
Or5ap2	T	A	2: 85,680,246 (GRCm39)	M150K	probably benign	Het
Pcdhb5	A	T	18: 37,454,129 (GRCm39)	T170S	probably benign	Het
Polr3b	T	A	10: 84,516,251 (GRCm39)	H626Q	probably benign	Het
Prkg1	A	T	19: 31,742,146 (GRCm39)	L26Q	probably damaging	Het
Prob1	T	C	18: 35,787,039 (GRCm39)	N405S	possibly damaging	Het
Proz	T	G	8: 13,123,630 (GRCm39)	S300R	probably damaging	Het
Psg19	A	G	7: 18,527,990 (GRCm39)	I251T	probably benign	Het
Rcbtb1	T	C	14: 59,467,401 (GRCm39)	I413T	possibly damaging	Het
Rnf144b	T	A	13: 47,382,452 (GRCm39)	Y103N	probably damaging	Het
Rspry1	G	C	8: 95,358,747 (GRCm39)	G194R	probably benign	Het
Scn2b	A	G	9: 45,036,917 (GRCm39)	I142V	probably damaging	Het
Spata20	A	T	11: 94,372,607 (GRCm39)	L588H	probably damaging	Het
Stk32b	T	A	5: 37,614,503 (GRCm39)	H335L	probably benign	Het
Taar4	A	C	10: 23,836,801 (GRCm39)	D137A	possibly damaging	Het
Tchh	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	3: 93,354,015 (GRCm39)		probably benign	Het
Tek	A	T	4: 94,738,074 (GRCm39)	H708L	probably benign	Het
Tmem89	C	T	9: 108,744,095 (GRCm39)	L132F	unknown	Het
Ugt2b38	T	C	5: 87,559,681 (GRCm39)	I404V	probably benign	Het
Vmn1r16	C	T	6: 57,299,814 (GRCm39)	M269I	probably benign	Het
Vmn1r201	A	G	13: 22,659,422 (GRCm39)	K212R	probably damaging	Het
Vmn2r11	A	C	5: 109,201,626 (GRCm39)	F293V	probably damaging	Het
Zdhhc17	A	T	10: 110,798,240 (GRCm39)		probably benign	Het
Zfp423	C	A	8: 88,509,338 (GRCm39)	M335I	probably benign	Het
Zfp74	T	C	7: 29,634,079 (GRCm39)	Y543C	probably damaging	Het
Zfp975	A	T	7: 42,312,264 (GRCm39)	S116R	probably benign	Het

Other mutations in Or8b52

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01309:Or8b52	APN	9	38,576,289 (GRCm39)	missense	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- TCATTAGCATTTGTGGAGTGAACAC -3'
(R):5'- AACGCTCACCAGCTGATTC -3'

Sequencing Primer
(F):5'- CACAGAAGAATAGCAAAGGTCTAC -3'
(R):5'- GCTCACCAGCTGATTCTGTAAAC -3'

Posted On

2021-03-08