Mutagenetix > Incidental Mutation

Incidental Mutation 'R7138:Or8b8'

553202

Institutional Source

Beutler Lab

Gene Symbol

Or8b8

Ensembl Gene

ENSMUSG00000066748

Gene Name

olfactory receptor family 8 subfamily B member 8

Synonyms

GA_x6K02T2PVTD-31578734-31579666, Olfr145, K21, MOR161-6

MMRRC Submission

045249-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.121) question?

Stock #

R7138 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37808020-37814815 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37809360 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 220 (I220T)

Ref Sequence

ENSEMBL: ENSMUSP00000150284 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086062] [ENSMUST00000213688]

AlphaFold

Q60882

Predicted Effect

probably damaging
Transcript: ENSMUST00000086062
AA Change: I220T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000083229
Gene: ENSMUSG00000066748
AA Change: I220T

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	307	4e-51	PFAM
Pfam:7tm_1	40	289	1.4e-23	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213688
AA Change: I220T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Coding Region Coverage

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

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	A	3: 121,899,113 (GRCm39)	C698*	probably null	Het
Acacb	G	A	5: 114,345,387 (GRCm39)	V947M	probably benign	Het
Acadsb	T	G	7: 131,042,968 (GRCm39)	L343R	probably damaging	Het
Adgrf2	C	T	17: 43,021,874 (GRCm39)	E317K	probably damaging	Het
Agap2	A	G	10: 126,923,154 (GRCm39)	T663A	unknown	Het
Akap8	A	T	17: 32,535,515 (GRCm39)	F166L	possibly damaging	Het
Ankrd17	A	T	5: 90,390,836 (GRCm39)	M2278K	probably benign	Het
Avl9	T	C	6: 56,705,242 (GRCm39)	S148P	probably damaging	Het
Brf1	T	C	12: 112,933,835 (GRCm39)	E266G	probably damaging	Het
Cabin1	T	C	10: 75,581,187 (GRCm39)	K380E	probably damaging	Het
Catsper2	T	C	2: 121,227,544 (GRCm39)	D542G	possibly damaging	Het
Cbln4	C	A	2: 171,884,095 (GRCm39)	D42Y	probably damaging	Het
Ccn6	T	A	10: 39,034,473 (GRCm39)	Q43L	possibly damaging	Het
Cd5	C	T	19: 10,697,668 (GRCm39)	R437Q	probably damaging	Het
Ceacam18	G	C	7: 43,288,706 (GRCm39)	E152D	possibly damaging	Het
Chd8	A	G	14: 52,451,955 (GRCm39)	S1347P	possibly damaging	Het
Chodl	T	G	16: 78,738,335 (GRCm39)	I101R	probably damaging	Het
Clk4	T	G	11: 51,168,759 (GRCm39)	F377L	probably damaging	Het
Cntnap3	C	T	13: 64,929,539 (GRCm39)		probably null	Het
Dab2	A	G	15: 6,458,780 (GRCm39)	S231G	probably benign	Het
Disp2	T	A	2: 118,617,361 (GRCm39)	H118Q	probably benign	Het
Dnah10	T	C	5: 124,900,009 (GRCm39)	F3869S	probably damaging	Het
Edil3	C	T	13: 89,279,847 (GRCm39)	T175I	probably damaging	Het
Eif1ad18	T	G	12: 88,050,648 (GRCm39)	I61R	probably damaging	Het
Fap	A	G	2: 62,372,522 (GRCm39)	S319P	probably benign	Het
Frmpd2	T	A	14: 33,293,761 (GRCm39)	V1309E	probably benign	Het
Galntl5	T	A	5: 25,394,842 (GRCm39)	S70T	probably benign	Het
Gm5622	G	T	14: 51,893,339 (GRCm39)	E89*	probably null	Het
Gna15	G	A	10: 81,343,881 (GRCm39)	T260M	probably damaging	Het
Gucy2c	A	G	6: 136,705,342 (GRCm39)	I531T	probably damaging	Het
Heatr5b	A	G	17: 79,135,417 (GRCm39)	V238A	probably damaging	Het
Htr2a	A	G	14: 74,943,182 (GRCm39)	Y254C	probably damaging	Het
Inpp5b	A	G	4: 124,679,065 (GRCm39)	R491G	probably damaging	Het
Kcnt2	C	T	1: 140,523,778 (GRCm39)	L1093F	possibly damaging	Het
Kcp	C	A	6: 29,491,861 (GRCm39)	E922*	probably null	Het
Lrp2	G	A	2: 69,296,089 (GRCm39)	A3340V	possibly damaging	Het
Lrrn1	T	G	6: 107,545,336 (GRCm39)	V378G	probably damaging	Het
Naip5	T	A	13: 100,356,338 (GRCm39)	E1092D	probably benign	Het
Net1	G	A	13: 3,938,510 (GRCm39)	R126C	probably damaging	Het
Nipsnap3a	T	C	4: 52,993,978 (GRCm39)	C20R	probably benign	Het
Nxpe2	C	T	9: 48,232,006 (GRCm39)	C317Y	probably damaging	Het
Or10v9	T	A	19: 11,832,652 (GRCm39)	I222F	probably damaging	Het
Or52h1	T	C	7: 103,829,504 (GRCm39)	Y37C	probably damaging	Het
Or8g54	T	G	9: 39,707,086 (GRCm39)	Y138*	probably null	Het
Orm1	T	A	4: 63,262,949 (GRCm39)	W39R	probably damaging	Het
Pds5b	A	T	5: 150,724,142 (GRCm39)	K1240*	probably null	Het
Pdss1	T	A	2: 22,802,681 (GRCm39)	H173Q	probably damaging	Het
Pebp1	A	G	5: 117,423,882 (GRCm39)	W84R	probably damaging	Het
Pla2g4e	C	T	2: 120,001,759 (GRCm39)	C630Y	probably damaging	Het
Plaat3	T	A	19: 7,556,550 (GRCm39)	V117E	probably damaging	Het
Plekho2	G	T	9: 65,463,635 (GRCm39)	Q405K	probably benign	Het
Plppr2	T	A	9: 21,855,708 (GRCm39)	V227E	probably damaging	Het
Pphln1-ps1	T	A	16: 13,495,589 (GRCm39)	D229E	probably benign	Het
Rapgef4	T	C	2: 72,028,707 (GRCm39)	S393P	probably damaging	Het
Rapgefl1	A	G	11: 98,737,900 (GRCm39)		probably null	Het
Ripk3	C	A	14: 56,025,803 (GRCm39)	R19L	probably benign	Het
Rnase10	G	T	14: 51,247,167 (GRCm39)	V182F	probably damaging	Het
Rsf1	T	A	7: 97,319,002 (GRCm39)	S917R		Het
Sephs2	T	C	7: 126,872,187 (GRCm39)	N302S	possibly damaging	Het
Slc13a2	C	T	11: 78,289,950 (GRCm39)	V455M	possibly damaging	Het
Slc30a2	A	T	4: 134,071,429 (GRCm39)	D54V	probably benign	Het
Slco6c1	T	C	1: 97,047,706 (GRCm39)	E199G	possibly damaging	Het
Snx27	A	T	3: 94,436,247 (GRCm39)	M256K	probably benign	Het
Spag4	T	A	2: 155,908,519 (GRCm39)	S150T	probably benign	Het
Spon1	T	A	7: 113,635,945 (GRCm39)	C720S	probably damaging	Het
Tbc1d22a	T	C	15: 86,123,356 (GRCm39)	S166P	probably benign	Het
Tbc1d9	T	C	8: 83,937,113 (GRCm39)	I65T	probably damaging	Het
Tmem176a	T	A	6: 48,820,953 (GRCm39)	V141D	probably damaging	Het
Tmem268	G	A	4: 63,480,687 (GRCm39)		probably benign	Het
Tonsl	A	G	15: 76,518,976 (GRCm39)	V519A	probably benign	Het
Ttn	G	A	2: 76,612,376 (GRCm39)	P17204S	possibly damaging	Het
Wrap53	T	A	11: 69,454,694 (GRCm39)	D225V	probably benign	Het
Zfhx4	G	A	3: 5,477,107 (GRCm39)	A3241T	possibly damaging	Het
Zfp1002	T	C	2: 150,097,372 (GRCm39)	H47R	probably damaging	Het
Znfx1	T	C	2: 166,898,697 (GRCm39)	R76G	probably benign	Het

Other mutations in Or8b8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01362:Or8b8	APN	9	37,809,359 (GRCm39)	missense	probably benign	0.13
IGL01586:Or8b8	APN	9	37,809,272 (GRCm39)	missense	possibly damaging	0.73
IGL02185:Or8b8	APN	9	37,809,531 (GRCm39)	missense	probably damaging	1.00
IGL02895:Or8b8	APN	9	37,809,278 (GRCm39)	missense	probably benign	0.01
IGL02956:Or8b8	APN	9	37,809,404 (GRCm39)	missense	probably damaging	1.00
R0391:Or8b8	UTSW	9	37,809,138 (GRCm39)	missense	probably benign	0.31
R0513:Or8b8	UTSW	9	37,809,351 (GRCm39)	missense	probably damaging	1.00
R4600:Or8b8	UTSW	9	37,809,622 (GRCm39)	missense	probably benign
R4610:Or8b8	UTSW	9	37,809,622 (GRCm39)	missense	probably benign
R4611:Or8b8	UTSW	9	37,809,622 (GRCm39)	missense	probably benign
R4982:Or8b8	UTSW	9	37,808,811 (GRCm39)	missense	probably damaging	1.00
R5574:Or8b8	UTSW	9	37,808,877 (GRCm39)	missense	probably damaging	1.00
R5608:Or8b8	UTSW	9	37,809,078 (GRCm39)	missense	probably damaging	0.98
R5688:Or8b8	UTSW	9	37,809,359 (GRCm39)	missense	possibly damaging	0.91
R5906:Or8b8	UTSW	9	37,809,174 (GRCm39)	missense	probably damaging	1.00
R6286:Or8b8	UTSW	9	37,809,074 (GRCm39)	missense	probably damaging	0.99
R7145:Or8b8	UTSW	9	37,808,859 (GRCm39)	missense	probably benign	0.01
R7993:Or8b8	UTSW	9	37,808,633 (GRCm39)	intron	probably benign
R8046:Or8b8	UTSW	9	37,808,685 (GRCm39)	splice site	probably benign
R8185:Or8b8	UTSW	9	37,809,531 (GRCm39)	missense	probably damaging	1.00
R9276:Or8b8	UTSW	9	37,809,415 (GRCm39)	missense	probably benign	0.04
R9352:Or8b8	UTSW	9	37,808,712 (GRCm39)	missense	probably benign	0.00
X0012:Or8b8	UTSW	9	37,809,624 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AACTGACCTTCTGTGCTGAC -3'
(R):5'- TCTCAGAGCAACTTTGACATCC -3'

Sequencing Primer
(F):5'- CAAGCTTGTCAATCACTACATGTGTG -3'
(R):5'- AGAGCAACTTTGACATCCTTATTCC -3'

Posted On

2019-05-15