Mutagenetix > Incidental Mutation

Incidental Mutation 'R8265:Or8b42'

639684

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

067690-MU

Accession Numbers

Essential gene?

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

Stock #

R8265 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

38341580-38342515 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 38342469 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 297 (V297A)

Ref Sequence

ENSEMBL: ENSMUSP00000066714 (fasta)

Gene Model

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

AlphaFold

Q7TRD1

Predicted Effect

probably damaging
Transcript: ENSMUST00000063716
AA Change: V297A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000066714
Gene: ENSMUSG00000052058
AA Change: V297A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	A	G	19: 3,766,568 (GRCm39)	T52A	probably benign	Het
Adam9	T	C	8: 25,457,202 (GRCm39)	Y642C	probably damaging	Het
Atp2c1	T	C	9: 105,347,315 (GRCm39)	E47G	probably benign	Het
Btbd9	T	A	17: 30,553,278 (GRCm39)	T395S	possibly damaging	Het
Cacna1s	G	A	1: 136,020,364 (GRCm39)	W800*	probably null	Het
Cdr1	AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC	AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC	X: 60,228,130 (GRCm39)		probably benign	Het
Ceacam20	G	A	7: 19,708,159 (GRCm39)	V255M	probably damaging	Het
Cit	C	A	5: 116,126,236 (GRCm39)	L1610M	probably damaging	Het
Cped1	A	G	6: 22,222,426 (GRCm39)	T729A	probably benign	Het
Ddx19b	A	T	8: 111,735,824 (GRCm39)	V407E	probably damaging	Het
Dst	A	G	1: 34,217,603 (GRCm39)	K1348E	probably benign	Het
E2f4	T	A	8: 106,027,977 (GRCm39)	S302T	probably damaging	Het
Eif1	A	G	11: 100,211,299 (GRCm39)	E31G	probably benign	Het
G530012D18Rik	C	G	1: 85,504,935 (GRCm39)	D113E	unknown	Het
Herc1	C	T	9: 66,293,986 (GRCm39)	Q443*	probably null	Het
Hmgxb3	A	G	18: 61,300,410 (GRCm39)	V222A	possibly damaging	Het
Hnrnpu	A	T	1: 178,159,725 (GRCm39)	I452N	unknown	Het
Ints1	C	G	5: 139,757,919 (GRCm39)	D260H	probably damaging	Het
Kdm5a	T	A	6: 120,383,557 (GRCm39)	M766K	possibly damaging	Het
Lama4	G	A	10: 38,981,200 (GRCm39)	C1720Y	probably damaging	Het
Mei1	C	A	15: 81,987,508 (GRCm39)	Y433*	probably null	Het
Milr1	A	G	11: 106,654,711 (GRCm39)	K188E	probably benign	Het
Myo7a	A	G	7: 97,734,604 (GRCm39)	F630S	probably benign	Het
Myoz2	A	G	3: 122,800,172 (GRCm39)	F219L	probably benign	Het
Nt5c1a	T	C	4: 123,107,953 (GRCm39)	V212A	possibly damaging	Het
Or51f1e	A	G	7: 102,747,304 (GRCm39)	T119A	probably benign	Het
Or51v14	A	T	7: 103,261,048 (GRCm39)	C171S	possibly damaging	Het
Pi16	A	G	17: 29,545,947 (GRCm39)	T242A	probably benign	Het
Pigw	C	A	11: 84,770,847 (GRCm39)		probably benign	Het
Pipox	T	A	11: 77,774,793 (GRCm39)	T97S	probably benign	Het
Plagl1	C	A	10: 13,004,625 (GRCm39)	A631E	unknown	Het
Poteg	T	A	8: 27,984,923 (GRCm39)	H427Q	possibly damaging	Het
Prdm14	A	G	1: 13,184,618 (GRCm39)	S518P	probably damaging	Het
Rabep2	A	G	7: 126,043,423 (GRCm39)	E441G	probably benign	Het
Rasal3	A	G	17: 32,614,794 (GRCm39)		probably null	Het
Rbm33	T	C	5: 28,599,322 (GRCm39)	V90A		Het
Sidt1	C	A	16: 44,088,250 (GRCm39)	R381M	possibly damaging	Het
Sppl2b	TGTCACAGGT	TGT	10: 80,701,903 (GRCm39)		probably null	Het
Srsf5	A	G	12: 80,994,110 (GRCm39)	D51G	possibly damaging	Het
Taar8a	T	A	10: 23,952,839 (GRCm39)	S148T	probably damaging	Het
Tmem59l	A	G	8: 70,938,426 (GRCm39)	S149P	probably damaging	Het
Trafd1	T	A	5: 121,511,340 (GRCm39)	I493F	possibly damaging	Het
Trrap	C	T	5: 144,722,344 (GRCm39)	S289L	possibly damaging	Het
Zfp267	T	C	3: 36,213,677 (GRCm39)		probably benign	Het
Zfp955a	C	T	17: 33,463,087 (GRCm39)	V15M	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
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
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'- ATATCCGTTCCACTGAAGGC -3'
(R):5'- TAATCTGTGAACGGTTTTGCAC -3'

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

Posted On

2020-07-28