Mutagenetix > Incidental Mutation

Incidental Mutation 'R8733:Or8d23'

662864

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

068581-MU

Accession Numbers

Essential gene?

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

Stock #

R8733 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38841469-38842395 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 38841985 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 173 (I173V)

Ref Sequence

ENSEMBL: ENSMUSP00000149230 (fasta)

Gene Model

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

AlphaFold

Q9EQ99

Predicted Effect

probably benign
Transcript: ENSMUST00000058789
AA Change: I173V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000080385
Gene: ENSMUSG00000063221
AA Change: I173V

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 benign
Transcript: ENSMUST00000217208
AA Change: I173V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

100% (52/52)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	A	G	11: 94,249,627 (GRCm39)	L1106P	probably damaging	Het
Alx3	C	G	3: 107,512,135 (GRCm39)	P258A	probably damaging	Het
Bbs9	A	G	9: 22,582,128 (GRCm39)	T607A	probably benign	Het
Catsperg1	A	T	7: 28,891,111 (GRCm39)	V644E	possibly damaging	Het
Cep85	T	C	4: 133,875,472 (GRCm39)	K499E	possibly damaging	Het
Chd5	A	T	4: 152,463,923 (GRCm39)	H1464L	probably damaging	Het
Chrne	A	G	11: 70,507,856 (GRCm39)	L281P	probably damaging	Het
Col3a1	A	G	1: 45,379,472 (GRCm39)		probably benign	Het
Cpsf4l	A	G	11: 113,600,279 (GRCm39)	F13L	possibly damaging	Het
Dgcr8	T	C	16: 18,077,825 (GRCm39)	I603V	probably benign	Het
Dhx16	A	G	17: 36,192,267 (GRCm39)	D102G	probably benign	Het
Dnm1	G	T	2: 32,206,987 (GRCm39)	D564E	probably benign	Het
Dync1li1	T	A	9: 114,534,178 (GRCm39)	Y93N	probably damaging	Het
Esp31	A	G	17: 38,955,509 (GRCm39)	I51V	probably benign	Het
Grap	G	T	11: 61,562,517 (GRCm39)	A163S	possibly damaging	Het
Hgs	G	A	11: 120,360,954 (GRCm39)		probably null	Het
Icosl	A	T	10: 77,909,697 (GRCm39)	N214I	probably damaging	Het
Ints6	G	A	14: 62,934,297 (GRCm39)	P737S	probably benign	Het
Irag1	C	T	7: 110,477,425 (GRCm39)	V564M	probably benign	Het
Lima1	A	G	15: 99,678,699 (GRCm39)	S581P	probably damaging	Het
Lrfn2	G	A	17: 49,403,824 (GRCm39)	R649H	probably damaging	Het
Muc5b	A	G	7: 141,417,532 (GRCm39)	T3493A	possibly damaging	Het
Mup4	A	T	4: 59,958,587 (GRCm39)	N104K	probably damaging	Het
Nedd4	T	C	9: 72,633,766 (GRCm39)	V424A	possibly damaging	Het
Or10ag55-ps1	A	T	2: 87,115,116 (GRCm39)	I161F	probably benign	Het
Or6c88	T	A	10: 129,406,579 (GRCm39)	D18E	possibly damaging	Het
Otop1	G	A	5: 38,457,117 (GRCm39)	R292H	probably damaging	Het
Otop1	T	A	5: 38,457,796 (GRCm39)	C518*	probably null	Het
Parp3	C	T	9: 106,353,150 (GRCm39)	V9M	probably benign	Het
Pcdhb20	C	T	18: 37,638,437 (GRCm39)	A321V	probably damaging	Het
Pik3c2g	C	T	6: 139,714,426 (GRCm39)	Q311*	probably null	Het
Pkd1l1	A	T	11: 8,883,657 (GRCm39)	V855D		Het
Polr2k	T	A	15: 36,176,913 (GRCm39)	D97E	probably benign	Het
Psmd11	A	G	11: 80,325,342 (GRCm39)		probably benign	Het
Ralgapa2	G	A	2: 146,266,683 (GRCm39)	T631M	probably damaging	Het
Ralgps1	C	A	2: 33,174,836 (GRCm39)		probably null	Het
Rbm18	A	G	2: 36,024,211 (GRCm39)	S17P	probably damaging	Het
Rcc1	C	A	4: 132,065,515 (GRCm39)	L49F	probably benign	Het
Rgma	T	C	7: 73,059,036 (GRCm39)	S63P	possibly damaging	Het
Scn1a	T	A	2: 66,154,944 (GRCm39)	I672L	probably benign	Het
Sema4c	T	C	1: 36,591,954 (GRCm39)	T270A	probably damaging	Het
Serac1	A	G	17: 6,100,303 (GRCm39)	L479P	probably damaging	Het
Slc22a16	A	G	10: 40,450,061 (GRCm39)	M187V	probably benign	Het
Slc41a3	A	T	6: 90,610,710 (GRCm39)	T191S	possibly damaging	Het
Slu7	G	A	11: 43,334,167 (GRCm39)	V398M	probably damaging	Het
Sphk1	A	G	11: 116,426,451 (GRCm39)	T136A	probably benign	Het
Sqstm1	G	T	11: 50,101,493 (GRCm39)	P31Q	possibly damaging	Het
Trappc11	A	T	8: 47,954,883 (GRCm39)	V885D	probably damaging	Het
Trav6-1	T	A	14: 52,876,213 (GRCm39)	Y44*	probably null	Het
Trav9-2	T	A	14: 53,828,755 (GRCm39)	C42S	probably damaging	Het
Zc2hc1a	A	G	3: 7,593,168 (GRCm39)	T194A	probably benign	Het
Zfp729a	A	G	13: 67,769,104 (GRCm39)	V375A	probably 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
R6928:Or8d23	UTSW	9	38,841,862 (GRCm39)	missense	probably damaging	1.00
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
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'- ACCTCCTGACTGTTATGGCG -3'
(R):5'- ATGAGATGAGAGCTGCAGGTTC -3'

Sequencing Primer
(F):5'- GTATGATCACTACGTGGCCATCTG -3'
(R):5'- AAAGGCTTTGGACCTGCTC -3'

Posted On

2021-03-08