Mutagenetix > Incidental Mutation

Incidental Mutation 'R6979:Or8h10'

542600

Institutional Source

Beutler Lab

Gene Symbol

Or8h10

Ensembl Gene

ENSMUSG00000070875

Gene Name

olfactory receptor family 8 subfamily H member 10

Synonyms

Olfr1100, GA_x6K02T2Q125-48465387-48464422, MOR206-4

MMRRC Submission

045087-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.101) question?

Stock #

R6979 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86808173-86809138 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86808577 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 188 (S188P)

Ref Sequence

ENSEMBL: ENSMUSP00000151088 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094913] [ENSMUST00000117211]

AlphaFold

Q8VFM1

Predicted Effect

probably damaging
Transcript: ENSMUST00000094913
AA Change: S188P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000092517
Gene: ENSMUSG00000070875
AA Change: S188P

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	1.7e-51	PFAM
Pfam:7tm_1	41	314	2.3e-19	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000117211
AA Change: S188P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.2%

Validation Efficiency

100% (50/50)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadac	C	T	3: 59,947,424 (GRCm39)	T374M	probably benign	Het
Aspg	A	G	12: 112,087,378 (GRCm39)	D278G	possibly damaging	Het
Aspm	C	A	1: 139,408,223 (GRCm39)	A2370E	probably damaging	Het
Ccnt2	T	C	1: 127,702,873 (GRCm39)	M65T	probably damaging	Het
Cd163	A	G	6: 124,294,945 (GRCm39)	T670A	probably benign	Het
Cpne3	G	A	4: 19,533,098 (GRCm39)	T279I	probably benign	Het
Ctdspl	G	A	9: 118,869,598 (GRCm39)	V227M	probably damaging	Het
Ctnnd2	A	G	15: 30,619,376 (GRCm39)	E99G	probably damaging	Het
Dapk1	T	C	13: 60,896,095 (GRCm39)	S728P	probably damaging	Het
Dmxl2	A	G	9: 54,358,163 (GRCm39)	I512T	possibly damaging	Het
Dop1a	A	T	9: 86,403,695 (GRCm39)	T1630S	possibly damaging	Het
Dqx1	A	G	6: 83,037,992 (GRCm39)	D460G	probably damaging	Het
Foxg1	T	C	12: 49,431,567 (GRCm39)		probably benign	Het
H2-Q2	T	A	17: 35,564,623 (GRCm39)		probably null	Het
Hes6	T	C	1: 91,340,810 (GRCm39)	E17G	possibly damaging	Het
Ighv1-42	T	C	12: 114,900,848 (GRCm39)	Y79C	possibly damaging	Het
Itfg2	T	C	6: 128,388,554 (GRCm39)	D311G	probably damaging	Het
Itgb5	T	A	16: 33,740,356 (GRCm39)	C489S	probably damaging	Het
Map4k5	A	T	12: 69,869,622 (GRCm39)	C488S	probably damaging	Het
Mark1	C	T	1: 184,644,825 (GRCm39)	G377D	possibly damaging	Het
Mat2a	A	G	6: 72,412,096 (GRCm39)	V318A	probably damaging	Het
Mpp7	T	G	18: 7,355,049 (GRCm39)	N459T	possibly damaging	Het
Mrc2	C	A	11: 105,239,461 (GRCm39)	N1348K	probably damaging	Het
Mroh5	T	C	15: 73,664,978 (GRCm39)	K264R	probably benign	Het
Mtor	A	G	4: 148,608,930 (GRCm39)	M1529V	possibly damaging	Het
Mtrr	C	T	13: 68,718,122 (GRCm39)		probably null	Het
Nwd1	C	T	8: 73,394,288 (GRCm39)	P517L	probably damaging	Het
Or4a27	T	A	2: 88,559,528 (GRCm39)	R138S	probably benign	Het
Polr1c	A	G	17: 46,557,095 (GRCm39)	F63L	probably damaging	Het
Polrmt	C	T	10: 79,582,400 (GRCm39)		probably null	Het
Pomt2	T	C	12: 87,177,125 (GRCm39)	I287M	probably damaging	Het
Prkar2a	T	A	9: 108,610,342 (GRCm39)	N190K	possibly damaging	Het
Prl3d3	T	A	13: 27,341,545 (GRCm39)	Y59N	possibly damaging	Het
Prl5a1	T	A	13: 28,335,189 (GRCm39)	F199L	probably benign	Het
Prpf38b	A	G	3: 108,818,640 (GRCm39)	V40A	probably benign	Het
Ptchd1	T	A	X: 154,357,708 (GRCm39)	Y499F	probably damaging	Het
Ptgs1	A	G	2: 36,141,311 (GRCm39)	D586G	probably benign	Het
Slx4	T	C	16: 3,802,879 (GRCm39)	K1312E	probably damaging	Het
Smok3c	A	G	5: 138,062,987 (GRCm39)	D158G	probably benign	Het
Spen	A	T	4: 141,205,374 (GRCm39)	D1084E	unknown	Het
Tcp11l1	C	T	2: 104,536,784 (GRCm39)	G27D	probably benign	Het
Tep1	A	G	14: 51,076,094 (GRCm39)	S1679P	possibly damaging	Het
Tmem259	C	T	10: 79,814,391 (GRCm39)	V322I	possibly damaging	Het
Tmpo	A	T	10: 90,988,359 (GRCm39)		probably null	Het
Ttn	C	A	2: 76,555,137 (GRCm39)	A30623S	probably damaging	Het
Ube2l3	G	A	16: 16,977,841 (GRCm39)		probably benign	Het
Unkl	A	G	17: 25,418,890 (GRCm39)	D146G	probably damaging	Het
Vmn1r51	A	T	6: 90,106,186 (GRCm39)	H34L	possibly damaging	Het
Vmn2r17	A	G	5: 109,576,265 (GRCm39)	T379A	possibly damaging	Het
Zfp35	G	T	18: 24,136,927 (GRCm39)	G424C	probably benign	Het
Zfp420	T	A	7: 29,575,446 (GRCm39)	H555Q	probably damaging	Het

Other mutations in Or8h10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02387:Or8h10	APN	2	86,808,193 (GRCm39)	nonsense	probably null
R0102:Or8h10	UTSW	2	86,808,549 (GRCm39)	missense	possibly damaging	0.90
R0477:Or8h10	UTSW	2	86,808,567 (GRCm39)	missense	probably damaging	0.99
R0586:Or8h10	UTSW	2	86,809,126 (GRCm39)	missense	probably damaging	0.99
R0743:Or8h10	UTSW	2	86,808,843 (GRCm39)	missense	probably benign	0.12
R1163:Or8h10	UTSW	2	86,809,020 (GRCm39)	missense	probably damaging	1.00
R1640:Or8h10	UTSW	2	86,808,963 (GRCm39)	missense	probably damaging	1.00
R2865:Or8h10	UTSW	2	86,808,805 (GRCm39)	missense	possibly damaging	0.56
R4478:Or8h10	UTSW	2	86,808,562 (GRCm39)	missense	probably benign
R4548:Or8h10	UTSW	2	86,809,014 (GRCm39)	missense	probably damaging	0.98
R4618:Or8h10	UTSW	2	86,808,618 (GRCm39)	missense	possibly damaging	0.87
R4829:Or8h10	UTSW	2	86,808,918 (GRCm39)	missense	probably damaging	0.99
R4858:Or8h10	UTSW	2	86,808,693 (GRCm39)	missense	probably damaging	1.00
R5071:Or8h10	UTSW	2	86,808,666 (GRCm39)	missense	possibly damaging	0.88
R5072:Or8h10	UTSW	2	86,808,666 (GRCm39)	missense	possibly damaging	0.88
R5073:Or8h10	UTSW	2	86,808,666 (GRCm39)	missense	possibly damaging	0.88
R5074:Or8h10	UTSW	2	86,808,666 (GRCm39)	missense	possibly damaging	0.88
R5574:Or8h10	UTSW	2	86,808,867 (GRCm39)	missense	probably benign	0.00
R5735:Or8h10	UTSW	2	86,809,044 (GRCm39)	missense	probably benign	0.08
R5874:Or8h10	UTSW	2	86,808,786 (GRCm39)	missense	probably damaging	0.99
R6228:Or8h10	UTSW	2	86,809,035 (GRCm39)	missense	probably damaging	1.00
R6689:Or8h10	UTSW	2	86,808,498 (GRCm39)	missense	probably benign	0.36
R7006:Or8h10	UTSW	2	86,808,303 (GRCm39)	missense	probably damaging	0.99
R7274:Or8h10	UTSW	2	86,808,867 (GRCm39)	missense	probably benign	0.00
R7399:Or8h10	UTSW	2	86,808,501 (GRCm39)	missense	probably benign	0.19
R7560:Or8h10	UTSW	2	86,809,122 (GRCm39)	missense	probably benign	0.00
R7765:Or8h10	UTSW	2	86,808,538 (GRCm39)	missense	probably damaging	0.98
R8381:Or8h10	UTSW	2	86,808,373 (GRCm39)	missense	probably benign	0.36
R8390:Or8h10	UTSW	2	86,808,501 (GRCm39)	missense	probably benign	0.19
R8694:Or8h10	UTSW	2	86,808,591 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTCCTAGGAGATGAGAAGCAC -3'
(R):5'- CTCTTGGCTGCTGCTGAATG -3'

Sequencing Primer
(F):5'- CACAAGTGGAGAAGGCTTTGTGC -3'
(R):5'- CAATGGCCTATGATAGATATGTGGC -3'

Posted On

2018-11-28