Mutagenetix > Incidental Mutation

Incidental Mutation 'R1530:Or8b42'

166554

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

039569-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R1530 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

38341580-38342515 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 38341620 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 14 (I14T)

Ref Sequence

ENSEMBL: ENSMUSP00000150506 (fasta)

Gene Model

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

AlphaFold

Q7TRD1

Predicted Effect

probably damaging
Transcript: ENSMUST00000063716
AA Change: I14T

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000066714
Gene: ENSMUSG00000052058
AA Change: I14T

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

probably damaging
Transcript: ENSMUST00000216502
AA Change: I14T

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216644
AA Change: I14T

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.6%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl6b	T	C	5: 137,567,640 (GRCm39)	C425R	probably damaging	Het
Adam15	A	G	3: 89,257,137 (GRCm39)	S20P	probably damaging	Het
Adgra3	G	A	5: 50,118,479 (GRCm39)	T1023I	probably benign	Het
Angel2	T	A	1: 190,671,285 (GRCm39)	V46E	probably damaging	Het
Ankrd13c	T	A	3: 157,697,358 (GRCm39)	M321K	probably damaging	Het
Atad2b	C	T	12: 4,992,018 (GRCm39)	R206*	probably null	Het
Atp10b	T	A	11: 43,088,351 (GRCm39)	F319Y	probably benign	Het
AW554918	A	G	18: 25,533,161 (GRCm39)	R272G	probably damaging	Het
Bpi	T	A	2: 158,103,065 (GRCm39)	I70N	probably damaging	Het
Brca1	T	C	11: 101,415,521 (GRCm39)	D871G	probably damaging	Het
Capn3	G	A	2: 120,312,689 (GRCm39)	A160T	probably damaging	Het
Cenpe	T	C	3: 134,952,663 (GRCm39)	L1451P	possibly damaging	Het
Chmp7	A	G	14: 69,969,937 (GRCm39)	M1T	probably null	Het
Csrnp1	G	C	9: 119,802,612 (GRCm39)	Q200E	possibly damaging	Het
Dscam	G	A	16: 96,621,074 (GRCm39)	P545S	probably damaging	Het
Erap1	A	G	13: 74,794,662 (GRCm39)	E107G	probably benign	Het
Errfi1	A	G	4: 150,949,843 (GRCm39)	I49V	probably benign	Het
Fam171b	T	C	2: 83,710,533 (GRCm39)	L735S	probably damaging	Het
Fancm	T	A	12: 65,139,264 (GRCm39)		probably null	Het
Fbp2	G	C	13: 62,984,973 (GRCm39)	P316R	probably damaging	Het
Fcer2a	C	A	8: 3,732,976 (GRCm39)	G255V	probably damaging	Het
Fhip2a	T	A	19: 57,374,737 (GRCm39)	I704N	probably damaging	Het
Fzd2	T	C	11: 102,496,134 (GRCm39)	S193P	probably benign	Het
Gak	A	G	5: 108,772,059 (GRCm39)	V86A	probably damaging	Het
Gas2l3	A	G	10: 89,269,631 (GRCm39)	I7T	probably benign	Het
Gbp11	T	C	5: 105,475,355 (GRCm39)	H331R	probably damaging	Het
Gpr19	C	T	6: 134,846,961 (GRCm39)	V241M	probably damaging	Het
Grk6	G	A	13: 55,606,612 (GRCm39)	A437T	probably damaging	Het
Hip1	T	C	5: 135,473,634 (GRCm39)	D253G	probably damaging	Het
Ifna9	G	C	4: 88,510,409 (GRCm39)	Q72E	possibly damaging	Het
Il1r1	A	G	1: 40,351,521 (GRCm39)	T384A	probably benign	Het
Ip6k1	C	A	9: 107,922,761 (GRCm39)	C221*	probably null	Het
Kcna1	C	A	6: 126,619,494 (GRCm39)	E275D	probably benign	Het
Kcnt2	C	T	1: 140,411,970 (GRCm39)	Q468*	probably null	Het
Kin	T	C	2: 10,097,150 (GRCm39)	V333A	probably damaging	Het
Leprot	G	T	4: 101,513,484 (GRCm39)	V91L	probably benign	Het
Mettl21c	A	G	1: 44,056,344 (GRCm39)		probably null	Het
Myom2	T	C	8: 15,172,384 (GRCm39)	F1161S	probably damaging	Het
Ndor1	A	G	2: 25,138,921 (GRCm39)	L321P	probably benign	Het
Nipal2	A	T	15: 34,625,168 (GRCm39)	*72K	probably null	Het
Nol3	T	C	8: 106,005,858 (GRCm39)	V84A	probably benign	Het
Or2y16	C	T	11: 49,334,732 (GRCm39)	S18L	probably benign	Het
Or4c101	A	T	2: 88,389,827 (GRCm39)	I5F	probably benign	Het
Pcare	A	G	17: 72,056,473 (GRCm39)	V1068A	probably benign	Het
Pdgfra	T	A	5: 75,349,671 (GRCm39)		probably null	Het
Pik3cb	T	C	9: 98,936,026 (GRCm39)	D802G	probably damaging	Het
Plac8l1	A	T	18: 42,311,996 (GRCm39)	V141E	probably damaging	Het
Plxnb2	A	G	15: 89,051,395 (GRCm39)	S275P	probably benign	Het
Prl3b1	G	A	13: 27,427,848 (GRCm39)	A53T	probably benign	Het
Rapgef6	T	A	11: 54,552,009 (GRCm39)	I959K	probably damaging	Het
Scn5a	T	C	9: 119,324,628 (GRCm39)	K1400R	probably damaging	Het
Sel1l	A	G	12: 91,793,458 (GRCm39)	S263P	probably damaging	Het
Setd5	G	A	6: 113,086,874 (GRCm39)	V34I	probably damaging	Het
Slc34a1	A	G	13: 24,003,052 (GRCm39)	D234G	probably damaging	Het
Spink5	T	A	18: 44,148,738 (GRCm39)	S934T	probably damaging	Het
St18	A	C	1: 6,915,793 (GRCm39)		probably null	Het
St3gal4	T	C	9: 34,963,592 (GRCm39)	I239V	probably benign	Het
Stag3	C	T	5: 138,295,674 (GRCm39)	T399I	probably damaging	Het
Syt11	T	C	3: 88,669,674 (GRCm39)	K6E	probably damaging	Het
Taf15	T	C	11: 83,378,122 (GRCm39)	Y121H	possibly damaging	Het
Tdh	T	C	14: 63,733,504 (GRCm39)	Y113C	probably damaging	Het
Tgfbr1	T	A	4: 47,410,688 (GRCm39)	W406R	probably damaging	Het
Tgm6	A	G	2: 129,993,202 (GRCm39)	I563V	possibly damaging	Het
Tmem131	A	G	1: 36,866,090 (GRCm39)		probably null	Het
Tmub2	T	C	11: 102,178,312 (GRCm39)	S72P	probably benign	Het
Trappc13	G	A	13: 104,286,651 (GRCm39)	T202I	probably damaging	Het
Trim9	T	C	12: 70,319,202 (GRCm39)	E449G	probably damaging	Het
Trip11	C	A	12: 101,879,026 (GRCm39)	G21V	unknown	Het
Ttll12	G	A	15: 83,472,856 (GRCm39)	R127C	probably damaging	Het
Vmn2r125	A	T	4: 156,703,447 (GRCm39)	Y275F	probably damaging	Het
Xrcc5	A	G	1: 72,369,103 (GRCm39)	D319G	probably damaging	Het
Zc3h14	T	G	12: 98,751,262 (GRCm39)	C159W	probably damaging	Het
Zc3h7b	C	T	15: 81,661,289 (GRCm39)	P376L	probably benign	Het
Zfhx3	C	T	8: 109,675,121 (GRCm39)	P2057L	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
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
R3081:Or8b42	UTSW	9	38,342,352 (GRCm39)	missense	possibly damaging	0.82
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'- AGTCTGAGGTCGGAGCTAGGCTAT -3'
(R):5'- CTGTTTCACAAAACCCACCAGCATTTT -3'

Sequencing Primer
(F):5'- tccaggggttcaaaccaag -3'
(R):5'- CCACCAGCATTTTGGGGG -3'

Posted On

2014-04-13