Mutagenetix > Incidental Mutation

Incidental Mutation 'R7166:Or8h8'

557916

Institutional Source

Beutler Lab

Gene Symbol

Or8h8

Ensembl Gene

ENSMUSG00000075169

Gene Name

olfactory receptor family 8 subfamily H member 8

Synonyms

MOR206-1, Olfr1098, GA_x6K02T2Q125-48410458-48409511

MMRRC Submission

045227-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R7166 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86752927-86753874 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 86753092 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 261 (K261N)

Ref Sequence

ENSEMBL: ENSMUSP00000107200 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099872] [ENSMUST00000111574]

AlphaFold

A2AVB0

Predicted Effect

probably damaging
Transcript: ENSMUST00000099872
AA Change: K261N

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000097457
Gene: ENSMUSG00000075169
AA Change: K261N

Domain	Start	End	E-Value	Type
Pfam:7tm_1	41	290	7e-29	PFAM
Pfam:7tm_4	140	283	3.3e-41	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000111574
AA Change: K261N

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000107200
Gene: ENSMUSG00000075169
AA Change: K261N

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	1.8e-52	PFAM
Pfam:7tm_1	41	309	8.1e-20	PFAM

Coding Region Coverage

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

Validation Efficiency

98% (52/53)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ambn	T	C	5: 88,615,387 (GRCm39)	L272P	possibly damaging	Het
Ash2l	C	A	8: 26,317,348 (GRCm39)	G335V	probably damaging	Het
Atp13a1	T	A	8: 70,251,966 (GRCm39)		probably null	Het
Atp13a2	G	A	4: 140,734,295 (GRCm39)	R1139Q	possibly damaging	Het
Atxn2	T	A	5: 121,934,460 (GRCm39)	N886K	possibly damaging	Het
Celsr3	G	T	9: 108,720,150 (GRCm39)	C2512F	probably damaging	Het
Cfap221	A	G	1: 119,875,843 (GRCm39)	V449A	probably benign	Het
Cfhr2	A	T	1: 139,758,839 (GRCm39)	C70*	probably null	Het
Chfr	C	A	5: 110,306,671 (GRCm39)	P472Q	probably benign	Het
Crybg2	G	A	4: 133,788,193 (GRCm39)	R22Q	probably damaging	Het
Eef2k	T	C	7: 120,483,995 (GRCm39)	F244L	probably damaging	Het
Efcab11	A	T	12: 99,849,614 (GRCm39)	M23K		Het
Eif4a3l2	A	G	6: 116,528,329 (GRCm39)	I69V	probably benign	Het
Ercc8	T	A	13: 108,305,967 (GRCm39)	M114K	possibly damaging	Het
Fam217a	T	C	13: 35,094,298 (GRCm39)	Y487C	probably benign	Het
Farsb	T	C	1: 78,447,821 (GRCm39)	N205S	probably benign	Het
Glra1	A	G	11: 55,405,904 (GRCm39)	F370S	probably benign	Het
Gm12258	T	A	11: 58,749,299 (GRCm39)	M158K		Het
Gm14305	T	A	2: 176,412,736 (GRCm39)	H209Q	probably damaging	Het
Gm4924	A	T	10: 82,214,035 (GRCm39)	Q611L	unknown	Het
H4c11	A	G	13: 21,919,321 (GRCm39)	H19R	unknown	Het
Haus6	T	C	4: 86,501,924 (GRCm39)	E649G	possibly damaging	Het
Hlcs	C	T	16: 94,063,585 (GRCm39)	D345N	possibly damaging	Het
Htt	C	A	5: 35,010,238 (GRCm39)	Q1564K	probably benign	Het
Itpr1	G	A	6: 108,355,151 (GRCm39)	V481I	probably benign	Het
Jak3	T	C	8: 72,134,960 (GRCm39)	I531T	probably damaging	Het
Kng1	T	A	16: 22,898,428 (GRCm39)	H609Q	probably benign	Het
Mdn1	T	A	4: 32,746,446 (GRCm39)	S4131T	probably damaging	Het
Npnt	A	G	3: 132,653,889 (GRCm39)	S31P	probably damaging	Het
Or1r1	A	T	11: 73,875,121 (GRCm39)	F104L	possibly damaging	Het
Or4c100	A	T	2: 88,355,990 (GRCm39)	Q21L	possibly damaging	Het
Paxx	A	T	2: 25,350,238 (GRCm39)	L123Q	probably damaging	Het
Prdm13	C	T	4: 21,683,528 (GRCm39)	R144Q	unknown	Het
Rab2b	C	A	14: 52,516,802 (GRCm39)		probably benign	Het
Rnf207	A	G	4: 152,396,237 (GRCm39)	I509T	probably damaging	Het
Ropn1l	T	C	15: 31,453,655 (GRCm39)	Q12R		Het
Ryr3	T	G	2: 112,705,373 (GRCm39)	Y847S	probably damaging	Het
Slc1a6	A	T	10: 78,648,646 (GRCm39)	T456S	possibly damaging	Het
Slc26a2	A	T	18: 61,331,901 (GRCm39)	M510K	possibly damaging	Het
Slc5a9	T	C	4: 111,741,036 (GRCm39)	T537A	probably benign	Het
Slc9b2	T	C	3: 135,031,939 (GRCm39)	Y132H	unknown	Het
Sltm	T	C	9: 70,492,132 (GRCm39)	L725S	probably damaging	Het
Spz1	A	G	13: 92,712,435 (GRCm39)	C14R	probably benign	Het
Srrm4	T	A	5: 116,609,301 (GRCm39)	Q172L	unknown	Het
Synj2bp	T	C	12: 81,551,289 (GRCm39)	D92G	probably benign	Het
Tmem169	A	C	1: 72,340,229 (GRCm39)	T220P	probably benign	Het
Ttn	T	A	2: 76,718,372 (GRCm39)	I7270F	unknown	Het
Txndc16	T	G	14: 45,420,611 (GRCm39)	N137H	probably benign	Het
Ubr5	A	G	15: 37,976,389 (GRCm39)	Y2499H		Het
Ugt2b38	T	C	5: 87,558,305 (GRCm39)	D452G	probably damaging	Het
Zfp12	T	A	5: 143,231,257 (GRCm39)	I560N	possibly damaging	Het
Zfp60	A	G	7: 27,448,937 (GRCm39)	K535R	possibly damaging	Het
Zfp960	T	A	17: 17,308,761 (GRCm39)	C492S	probably damaging	Het

Other mutations in Or8h8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01318:Or8h8	APN	2	86,753,293 (GRCm39)	missense	probably benign
IGL02547:Or8h8	APN	2	86,753,372 (GRCm39)	missense	probably damaging	1.00
IGL02881:Or8h8	APN	2	86,753,057 (GRCm39)	missense	possibly damaging	0.94
IGL03073:Or8h8	APN	2	86,753,697 (GRCm39)	missense	probably damaging	1.00
R0117:Or8h8	UTSW	2	86,753,214 (GRCm39)	missense	probably damaging	1.00
R0808:Or8h8	UTSW	2	86,753,795 (GRCm39)	missense	probably damaging	1.00
R1061:Or8h8	UTSW	2	86,753,126 (GRCm39)	missense	possibly damaging	0.93
R1471:Or8h8	UTSW	2	86,752,922 (GRCm39)	splice site	probably null
R1571:Or8h8	UTSW	2	86,753,789 (GRCm39)	missense	probably benign	0.01
R1680:Or8h8	UTSW	2	86,753,505 (GRCm39)	missense	probably benign	0.10
R2341:Or8h8	UTSW	2	86,752,982 (GRCm39)	missense	possibly damaging	0.63
R2368:Or8h8	UTSW	2	86,753,451 (GRCm39)	missense	probably benign
R3158:Or8h8	UTSW	2	86,752,950 (GRCm39)	missense	probably benign
R3425:Or8h8	UTSW	2	86,752,950 (GRCm39)	missense	probably benign
R3499:Or8h8	UTSW	2	86,753,373 (GRCm39)	missense	possibly damaging	0.94
R4156:Or8h8	UTSW	2	86,753,222 (GRCm39)	missense	probably damaging	1.00
R4526:Or8h8	UTSW	2	86,753,339 (GRCm39)	missense	possibly damaging	0.90
R5743:Or8h8	UTSW	2	86,753,549 (GRCm39)	missense	probably benign	0.01
R5942:Or8h8	UTSW	2	86,753,750 (GRCm39)	missense	probably damaging	1.00
R6372:Or8h8	UTSW	2	86,753,499 (GRCm39)	missense	probably damaging	1.00
R6409:Or8h8	UTSW	2	86,753,515 (GRCm39)	nonsense	probably null
R6517:Or8h8	UTSW	2	86,753,441 (GRCm39)	missense	probably benign	0.05
R6661:Or8h8	UTSW	2	86,753,492 (GRCm39)	missense	probably benign	0.02
R7075:Or8h8	UTSW	2	86,752,990 (GRCm39)	missense	possibly damaging	0.88
R8058:Or8h8	UTSW	2	86,753,151 (GRCm39)	missense	probably benign	0.32
R8234:Or8h8	UTSW	2	86,753,313 (GRCm39)	missense	probably damaging	1.00
R9115:Or8h8	UTSW	2	86,752,998 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTCTTCAGTTTTGTGCCAAGAGC -3'
(R):5'- AGCTGGTTCCACTCTATTGCTG -3'

Sequencing Primer
(F):5'- CCAAGAGCAAAGCTGAAGAAC -3'
(R):5'- GCTGTCGCTAATCACGATATCCG -3'

Posted On

2019-06-26