Mutagenetix > Incidental Mutation

Incidental Mutation 'R3081:Or8b42'

265429

Institutional Source

Beutler Lab

Gene Symbol

Or8b42

Ensembl Gene

ENSMUSG00000052058

Gene Name

olfactory receptor family 8 subfamily B member 42

Synonyms

Olfr901, GA_x6K02T2PVTD-32123032-32123967, MOR162-8

MMRRC Submission

040571-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R3081 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38341580-38342515 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 38342352 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 258 (M258K)

Ref Sequence

ENSEMBL: ENSMUSP00000150506 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063716] [ENSMUST00000216502] [ENSMUST00000216644]

AlphaFold

Q7TRD1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000063716
AA Change: M258K

PolyPhen 2 Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000066714
Gene: ENSMUSG00000052058
AA Change: M258K

Domain	Start	End	E-Value	Type
Pfam:7tm_4	32	308	4.2e-47	PFAM
Pfam:7tm_1	42	290	3.2e-23	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216502
AA Change: M258K

PolyPhen 2 Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216644
AA Change: M258K

PolyPhen 2 Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

100% (58/58)

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
Aamdc	T	A	7: 97,214,432 (GRCm39)	T48S	probably benign	Het
Abcc3	T	A	11: 94,247,802 (GRCm39)	L1230F	probably damaging	Het
Abcf3	T	A	16: 20,378,114 (GRCm39)	I542N	probably benign	Het
Als2	A	G	1: 59,226,508 (GRCm39)	L932P	probably damaging	Het
Arhgap45	G	A	10: 79,862,281 (GRCm39)	R583H	probably damaging	Het
Asl	T	C	5: 130,042,245 (GRCm39)	Y277C	probably damaging	Het
Bcl9	A	T	3: 97,112,989 (GRCm39)	N1155K	possibly damaging	Het
Carm1	C	A	9: 21,490,692 (GRCm39)		probably null	Het
Cdkn2aip	T	C	8: 48,164,532 (GRCm39)	K394E	probably damaging	Het
Cfap70	A	G	14: 20,470,830 (GRCm39)	Y472H	probably damaging	Het
Cfap77	T	A	2: 28,852,662 (GRCm39)	K203N	probably damaging	Het
Cldn14	T	C	16: 93,716,192 (GRCm39)	K218R	probably damaging	Het
Coro6	T	C	11: 77,359,738 (GRCm39)	F336S	probably damaging	Het
Derl1	C	A	15: 57,739,007 (GRCm39)		probably benign	Het
Dixdc1	G	A	9: 50,622,259 (GRCm39)	A25V	probably damaging	Het
Dock2	T	A	11: 34,181,610 (GRCm39)	H1651L	probably benign	Het
Dock6	A	G	9: 21,750,496 (GRCm39)	F473L	possibly damaging	Het
Dzip3	T	C	16: 48,747,921 (GRCm39)	H1163R	probably damaging	Het
Efcab9	T	C	11: 32,473,689 (GRCm39)	D35G	probably benign	Het
Evpl	T	C	11: 116,111,678 (GRCm39)	D2004G	probably damaging	Het
Faiml	A	G	9: 99,114,527 (GRCm39)	C121R	probably damaging	Het
Fastkd3	T	C	13: 68,732,987 (GRCm39)	V436A	probably benign	Het
Fbxl5	A	G	5: 43,908,222 (GRCm39)	Y660H	probably damaging	Het
Glt8d1	T	C	14: 30,728,617 (GRCm39)	V15A	probably benign	Het
Gpr25	A	C	1: 136,187,623 (GRCm39)	I330S	possibly damaging	Het
Hdac5	A	T	11: 102,096,436 (GRCm39)	V257E	probably damaging	Het
Lama2	C	T	10: 26,877,231 (GRCm39)	E2652K	probably benign	Het
Lrriq1	T	A	10: 102,980,750 (GRCm39)	S1462C	probably damaging	Het
Mgat3	A	G	15: 80,096,055 (GRCm39)	D294G	probably benign	Het
Mylk2	A	G	2: 152,761,274 (GRCm39)	N459S	probably benign	Het
Myo3b	A	C	2: 70,086,927 (GRCm39)		probably benign	Het
Naip6	T	C	13: 100,436,961 (GRCm39)	T521A	probably benign	Het
Nfxl1	C	T	5: 72,686,378 (GRCm39)	A608T	possibly damaging	Het
Nmd3	A	G	3: 69,631,732 (GRCm39)		probably benign	Het
Nol8	C	T	13: 49,831,868 (GRCm39)		probably benign	Het
Or1e29	A	T	11: 73,668,051 (GRCm39)	M34K	probably damaging	Het
Or8b12i	C	A	9: 20,082,061 (GRCm39)	G269W	probably benign	Het
Or8g34	G	A	9: 39,373,226 (GRCm39)	M166I	probably benign	Het
Pcdhgb2	T	C	18: 37,824,566 (GRCm39)	F519S	probably damaging	Het
Phf11c	A	G	14: 59,618,933 (GRCm39)	V284A	probably benign	Het
Rasl11a	G	T	5: 146,784,113 (GRCm39)	C186F	probably benign	Het
Rps18-ps3	T	C	8: 107,989,469 (GRCm39)		noncoding transcript	Het
Rusc1	A	G	3: 88,999,030 (GRCm39)	S251P	possibly damaging	Het
Rxfp3	T	C	15: 11,037,303 (GRCm39)	E23G	probably benign	Het
Senp6	G	A	9: 80,051,124 (GRCm39)	A1134T	probably benign	Het
Slc22a4	A	G	11: 53,898,615 (GRCm39)	V159A	probably benign	Het
Spata31d1a	T	C	13: 59,850,907 (GRCm39)	N407S	probably benign	Het
Ssc4d	T	C	5: 135,994,578 (GRCm39)	T51A	possibly damaging	Het
Stip1	C	T	19: 7,013,016 (GRCm39)	A23T	probably benign	Het
Tecta	A	T	9: 42,289,290 (GRCm39)	M425K	possibly damaging	Het
Tmed4	T	C	11: 6,224,151 (GRCm39)	H115R	probably benign	Het
Tmem255b	T	A	8: 13,501,048 (GRCm39)	L74H	probably damaging	Het
Trav6n-5	A	T	14: 53,342,741 (GRCm39)	H93L	possibly damaging	Het
Tsen54	T	A	11: 115,710,990 (GRCm39)	D187E	probably benign	Het
Ttc39d	A	G	17: 80,524,982 (GRCm39)	Y547C	probably damaging	Het
Vmn2r88	A	G	14: 51,656,089 (GRCm39)	N775S	probably damaging	Het
Vps13a	G	T	19: 16,642,101 (GRCm39)	N2175K	probably benign	Het
Wnk4	A	G	11: 101,167,717 (GRCm39)		probably benign	Het
Zfp180	A	T	7: 23,804,928 (GRCm39)	Q449L	probably damaging	Het

Other mutations in Or8b42

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01095:Or8b42	APN	9	38,341,811 (GRCm39)	missense	probably benign	0.20
IGL01875:Or8b42	APN	9	38,341,594 (GRCm39)	missense	probably damaging	1.00
R0010:Or8b42	UTSW	9	38,342,216 (GRCm39)	missense	possibly damaging	0.70
R1186:Or8b42	UTSW	9	38,342,397 (GRCm39)	missense	possibly damaging	0.85
R1259:Or8b42	UTSW	9	38,342,169 (GRCm39)	missense	probably damaging	0.99
R1273:Or8b42	UTSW	9	38,341,980 (GRCm39)	missense	probably benign	0.05
R1475:Or8b42	UTSW	9	38,342,160 (GRCm39)	missense	probably benign	0.30
R1530:Or8b42	UTSW	9	38,341,620 (GRCm39)	missense	probably damaging	0.97
R1591:Or8b42	UTSW	9	38,341,707 (GRCm39)	missense	probably damaging	1.00
R1750:Or8b42	UTSW	9	38,341,986 (GRCm39)	missense	probably damaging	1.00
R1756:Or8b42	UTSW	9	38,342,291 (GRCm39)	missense	probably benign
R2080:Or8b42	UTSW	9	38,342,378 (GRCm39)	missense	probably benign	0.01
R4174:Or8b42	UTSW	9	38,342,316 (GRCm39)	missense	probably damaging	0.97
R4299:Or8b42	UTSW	9	38,342,108 (GRCm39)	missense	probably damaging	1.00
R4898:Or8b42	UTSW	9	38,342,111 (GRCm39)	missense	probably benign	0.01
R5068:Or8b42	UTSW	9	38,341,760 (GRCm39)	missense	probably damaging	1.00
R5695:Or8b42	UTSW	9	38,342,472 (GRCm39)	missense	probably benign	0.01
R5973:Or8b42	UTSW	9	38,341,627 (GRCm39)	missense	probably damaging	0.99
R6929:Or8b42	UTSW	9	38,342,444 (GRCm39)	missense	probably benign	0.22
R8265:Or8b42	UTSW	9	38,342,469 (GRCm39)	missense	probably damaging	0.99
R8321:Or8b42	UTSW	9	38,341,850 (GRCm39)	missense	probably damaging	0.97
R9425:Or8b42	UTSW	9	38,342,286 (GRCm39)	missense	possibly damaging	0.60

Predicted Primers

PCR Primer
(F):5'- CACCTCTGTCAATGAGCTGG -3'
(R):5'- ATCTGTGAACGGTTTTGCAC -3'

Sequencing Primer
(F):5'- CTCTGTCAATGAGCTGGTGGTTTTC -3'
(R):5'- GAACGGTTTTGCACAATTAATTTTTG -3'

Posted On

2015-02-05