Mutagenetix > Incidental Mutation

Incidental Mutation 'R6928:Or8d23'

539843

Institutional Source

Beutler Lab

Gene Symbol

Or8d23

Ensembl Gene

ENSMUSG00000063221

Gene Name

olfactory receptor family 8 subfamily D member 23

Synonyms

MOR171-46, Olfr930, GA_x6K02T2PVTD-32626123-32627049

MMRRC Submission

045045-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.324) question?

Stock #

R6928 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38841469-38842395 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 38841862 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 132 (Y132H)

Ref Sequence

ENSEMBL: ENSMUSP00000149230 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058789] [ENSMUST00000217208]

AlphaFold

Q9EQ99

Predicted Effect

probably damaging
Transcript: ENSMUST00000058789
AA Change: Y132H

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

SMART Domains

Protein: ENSMUSP00000080385
Gene: ENSMUSG00000063221
AA Change: Y132H

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	1.3e-45	PFAM
Pfam:7tm_1	41	290	1.4e-19	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000217208
AA Change: Y132H

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

Meta Mutation Damage Score

0.2843

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 97.5%

Validation Efficiency

98% (62/63)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcyap1r1	A	G	6: 55,456,257 (GRCm39)	D215G	possibly damaging	Het
Asb3	A	T	11: 30,948,326 (GRCm39)	M40L	probably damaging	Het
Aspg	G	A	12: 112,093,123 (GRCm39)	V547M	possibly damaging	Het
Aspm	T	A	1: 139,407,944 (GRCm39)	L2277*	probably null	Het
Atp7b	A	G	8: 22,484,828 (GRCm39)	S1295P	probably benign	Het
Cdca2	A	G	14: 67,943,193 (GRCm39)	S199P	probably damaging	Het
Cdh1	A	G	8: 107,387,642 (GRCm39)	E514G	possibly damaging	Het
Cenpk	G	T	13: 104,365,500 (GRCm39)		probably benign	Het
Col6a5	C	A	9: 105,817,118 (GRCm39)	V398L	unknown	Het
Colec10	A	T	15: 54,326,002 (GRCm39)	K277N	probably damaging	Het
Cryzl2	T	G	1: 157,298,357 (GRCm39)	S249A	probably benign	Het
Cspg4	T	A	9: 56,805,164 (GRCm39)	Y1992N	possibly damaging	Het
Drd3	G	T	16: 43,641,683 (GRCm39)	R333L	probably benign	Het
Espl1	C	T	15: 102,207,342 (GRCm39)	R269C	probably benign	Het
Esr2	C	T	12: 76,212,252 (GRCm39)	C188Y	probably damaging	Het
Focad	A	G	4: 88,267,112 (GRCm39)	D1041G	unknown	Het
Frem3	T	C	8: 81,337,911 (GRCm39)	F68S	possibly damaging	Het
Gapdh	A	G	6: 125,139,634 (GRCm39)	V212A	probably damaging	Het
Gzmb	T	C	14: 56,497,734 (GRCm39)	K169E	probably benign	Het
Hexd	T	A	11: 121,102,880 (GRCm39)	F33I	possibly damaging	Het
Hsd3b6	T	C	3: 98,718,269 (GRCm39)	I32V	probably benign	Het
Jcad	T	C	18: 4,673,372 (GRCm39)	V378A	probably benign	Het
Kcnmb2	T	C	3: 32,253,190 (GRCm39)	S177P	probably benign	Het
Lrriq1	A	T	10: 103,050,800 (GRCm39)	S651T	possibly damaging	Het
Map3k2	T	C	18: 32,340,593 (GRCm39)		probably null	Het
Mib1	T	G	18: 10,802,282 (GRCm39)	S870A	probably benign	Het
Moap1	T	A	12: 102,708,871 (GRCm39)	N226I	probably damaging	Het
Moxd1	T	A	10: 24,176,186 (GRCm39)	N547K	probably damaging	Het
Mtmr9	A	G	14: 63,781,042 (GRCm39)	V16A	probably benign	Het
Nme1	T	C	11: 93,850,229 (GRCm39)	Y151C	probably damaging	Het
Nwd1	T	C	8: 73,408,653 (GRCm39)	F879L	probably benign	Het
Nynrin	T	G	14: 56,101,335 (GRCm39)	S335A	probably benign	Het
Or52ac1	A	T	7: 104,245,796 (GRCm39)	Y197*	probably null	Het
Or5ac25	C	A	16: 59,181,826 (GRCm39)	G252C	probably damaging	Het
Or5b102	A	T	19: 13,041,348 (GRCm39)	H191L	probably benign	Het
Or5b99	A	G	19: 12,977,202 (GRCm39)	N284S	probably damaging	Het
Or8g21	T	C	9: 38,905,928 (GRCm39)	M268V	probably benign	Het
Pcdhb21	A	G	18: 37,647,474 (GRCm39)	E201G	probably damaging	Het
Plscr1	T	C	9: 92,152,004 (GRCm39)	V301A	possibly damaging	Het
Psg28	A	T	7: 18,157,003 (GRCm39)	S411T	possibly damaging	Het
Rif1	T	C	2: 51,985,973 (GRCm39)	W653R	probably damaging	Het
Rnd3	T	A	2: 51,022,518 (GRCm39)	I175L	probably benign	Het
Rtn4	A	G	11: 29,656,791 (GRCm39)	E199G	possibly damaging	Het
Sgpp1	T	C	12: 75,763,344 (GRCm39)	Y279C	probably damaging	Het
Slc2a13	A	G	15: 91,160,382 (GRCm39)	I524T	probably damaging	Het
Speer4a2	A	G	5: 26,290,586 (GRCm39)		probably null	Het
Spg11	C	T	2: 121,900,385 (GRCm39)	V1556I	probably benign	Het
Spopfm1	T	A	3: 94,173,855 (GRCm39)	C288S	probably benign	Het
Srebf2	C	T	15: 82,087,924 (GRCm39)	R215*	probably null	Het
Tdpoz8	G	A	3: 92,981,267 (GRCm39)	C95Y	probably damaging	Het
Tmem19	T	C	10: 115,183,179 (GRCm39)	N147S	possibly damaging	Het
Tpr	T	C	1: 150,284,536 (GRCm39)	S408P	possibly damaging	Het
Trav13d-4	C	T	14: 53,310,618 (GRCm39)	T53I	probably damaging	Het
Trf	T	A	9: 103,099,307 (GRCm39)	R168W	possibly damaging	Het
Trim11	A	G	11: 58,879,669 (GRCm39)	K273R	probably damaging	Het
Tsacc	T	A	3: 88,190,247 (GRCm39)	M68L	probably benign	Het
Ttn	T	A	2: 76,584,869 (GRCm39)	M22110L	probably benign	Het
Zfp160	G	T	17: 21,261,724 (GRCm39)	G104V	probably benign	Het
Zfp582	T	C	7: 6,357,266 (GRCm39)	Y360H	probably damaging	Het
Zranb1	G	A	7: 132,568,323 (GRCm39)	R301H	possibly damaging	Het

Other mutations in Or8d23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02074:Or8d23	APN	9	38,841,979 (GRCm39)	missense	probably benign
IGL02309:Or8d23	APN	9	38,842,348 (GRCm39)	missense	probably damaging	1.00
R0104:Or8d23	UTSW	9	38,842,261 (GRCm39)	missense	possibly damaging	0.88
R0285:Or8d23	UTSW	9	38,842,070 (GRCm39)	missense	possibly damaging	0.85
R1557:Or8d23	UTSW	9	38,841,955 (GRCm39)	missense	possibly damaging	0.95
R1804:Or8d23	UTSW	9	38,841,946 (GRCm39)	missense	possibly damaging	0.89
R1989:Or8d23	UTSW	9	38,842,171 (GRCm39)	missense	possibly damaging	0.93
R2158:Or8d23	UTSW	9	38,841,875 (GRCm39)	missense	probably damaging	0.99
R4934:Or8d23	UTSW	9	38,842,129 (GRCm39)	missense	probably damaging	1.00
R5108:Or8d23	UTSW	9	38,842,151 (GRCm39)	missense	probably damaging	1.00
R6036:Or8d23	UTSW	9	38,842,216 (GRCm39)	missense	probably damaging	0.97
R6036:Or8d23	UTSW	9	38,842,216 (GRCm39)	missense	probably damaging	0.97
R6459:Or8d23	UTSW	9	38,841,961 (GRCm39)	missense	probably benign	0.00
R6862:Or8d23	UTSW	9	38,841,772 (GRCm39)	missense	possibly damaging	0.89
R7042:Or8d23	UTSW	9	38,841,622 (GRCm39)	missense	possibly damaging	0.93
R7365:Or8d23	UTSW	9	38,842,072 (GRCm39)	missense	probably damaging	0.99
R8733:Or8d23	UTSW	9	38,841,985 (GRCm39)	missense	probably benign	0.00
R8829:Or8d23	UTSW	9	38,842,190 (GRCm39)	missense	probably damaging	1.00
R9323:Or8d23	UTSW	9	38,841,818 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GTCATTACACCCAAAATGCTGG -3'
(R):5'- ACCAAGGTGTTGATCCCTCC -3'

Sequencing Primer
(F):5'- CCCAAAATGCTGGTGAACTTTC -3'
(R):5'- AAGCTCATTGAGATGTGTGTTAGAGC -3'

Posted On

2018-11-06