Mutagenetix > Incidental Mutation

Incidental Mutation 'R5108:Or8d23'

393678

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

042696-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.272) question?

Stock #

R5108 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38841469-38842395 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 38842151 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 228 (I228N)

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: I228N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000080385
Gene: ENSMUSG00000063221
AA Change: I228N

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: I228N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Meta Mutation Damage Score

0.3170

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.5%

Validation Efficiency

99% (79/80)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	T	A	6: 23,094,207 (GRCm39)	N94Y	probably damaging	Het
Ak2	A	G	4: 128,896,034 (GRCm39)	T104A	probably damaging	Het
Alox12b	G	T	11: 69,048,208 (GRCm39)	A46S	probably benign	Het
Ank1	G	T	8: 23,622,571 (GRCm39)	V1662F	probably benign	Het
Anxa3	T	C	5: 96,978,273 (GRCm39)	I219T	possibly damaging	Het
Aoc1l3	C	T	6: 48,965,504 (GRCm39)	T504I	probably damaging	Het
Arhgap40	G	A	2: 158,389,599 (GRCm39)	V588M	probably damaging	Het
Arhgef38	T	C	3: 132,843,029 (GRCm39)	T514A	probably benign	Het
Ascl4	C	A	10: 85,764,422 (GRCm39)	A23E	probably benign	Het
Bcl11b	T	C	12: 107,931,985 (GRCm39)	T196A	probably benign	Het
C1ra	A	T	6: 124,499,881 (GRCm39)	Y689F	probably damaging	Het
Ccr3	A	G	9: 123,828,968 (GRCm39)	N101S	probably benign	Het
Cep70	A	T	9: 99,145,865 (GRCm39)		probably null	Het
Ces1b	A	G	8: 93,798,541 (GRCm39)	V215A	probably damaging	Het
Cndp1	A	T	18: 84,650,186 (GRCm39)	I169N	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Fbxo2	A	G	4: 148,250,486 (GRCm39)	Q275R	probably damaging	Het
Fbxo44	T	C	4: 148,243,020 (GRCm39)	N133S	probably damaging	Het
Fzr1	C	T	10: 81,205,284 (GRCm39)		probably benign	Het
Grn	T	C	11: 102,325,228 (GRCm39)	S213P	probably benign	Het
Ifi203	A	T	1: 173,751,580 (GRCm39)	C414S	probably damaging	Het
Igfn1	C	T	1: 135,910,179 (GRCm39)	R135H	probably benign	Het
Kcnk10	T	C	12: 98,401,560 (GRCm39)	M358V	probably benign	Het
Kcnn2	A	T	18: 45,725,122 (GRCm39)	Y471F	probably damaging	Het
Klhl20	A	T	1: 160,926,820 (GRCm39)	V391E	probably damaging	Het
Krt1c	C	T	15: 101,721,721 (GRCm39)	G440D	possibly damaging	Het
Lpin1	A	T	12: 16,623,716 (GRCm39)	Y223N	probably benign	Het
Luzp2	G	A	7: 54,915,038 (GRCm39)	C321Y	probably damaging	Het
Mcm3ap	T	C	10: 76,338,536 (GRCm39)	V1388A	probably benign	Het
Mdga2	A	T	12: 66,533,515 (GRCm39)	H223Q	probably benign	Het
Mgat4e	G	T	1: 134,468,961 (GRCm39)	P361Q	probably benign	Het
Mylk3	A	T	8: 86,085,721 (GRCm39)	I208N	possibly damaging	Het
Myom2	T	A	8: 15,182,667 (GRCm39)	V1368E	probably damaging	Het
Mypn	C	T	10: 62,972,073 (GRCm39)	D656N	probably damaging	Het
Nat10	C	A	2: 103,562,548 (GRCm39)	R596L	probably damaging	Het
Nek8	T	C	11: 78,063,353 (GRCm39)	D137G	probably damaging	Het
Neurl1a	A	G	19: 47,246,074 (GRCm39)	K552E	probably damaging	Het
Npdc1	C	T	2: 25,298,667 (GRCm39)	H260Y	probably damaging	Het
Nuggc	A	T	14: 65,876,129 (GRCm39)	I581F	probably damaging	Het
P2rx6	T	C	16: 17,380,037 (GRCm39)	Y54H	probably damaging	Het
Pcmtd2	A	G	2: 181,486,216 (GRCm39)	E112G	probably damaging	Het
Pcnx4	G	A	12: 72,620,855 (GRCm39)	V892I	probably benign	Het
Pdss1	T	A	2: 22,796,895 (GRCm39)	V136E	possibly damaging	Het
Pias3	T	C	3: 96,612,253 (GRCm39)	L561P	possibly damaging	Het
Pomgnt1	G	A	4: 116,013,453 (GRCm39)		probably benign	Het
Scn2a	C	T	2: 65,518,974 (GRCm39)	T400I	probably damaging	Het
Sec24d	T	A	3: 123,099,434 (GRCm39)		probably null	Het
Sftpb	T	G	6: 72,281,640 (GRCm39)	L11R	probably damaging	Het
Slc22a19	A	G	19: 7,688,536 (GRCm39)	I8T	probably benign	Het
Slc22a30	A	G	19: 8,363,790 (GRCm39)	S266P	probably damaging	Het
Slc36a2	C	A	11: 55,050,214 (GRCm39)	G465W	probably damaging	Het
Slc4a2	G	A	5: 24,644,331 (GRCm39)	M976I	probably damaging	Het
Smcr8	C	T	11: 60,670,696 (GRCm39)	Q615*	probably null	Het
Sobp	T	C	10: 43,036,815 (GRCm39)	E41G	probably damaging	Het
Spopfm1	C	T	3: 94,173,142 (GRCm39)	S50L	probably damaging	Het
Spz1	A	T	13: 92,711,554 (GRCm39)	C307*	probably null	Het
Sult1d1	C	T	5: 87,711,728 (GRCm39)		probably null	Het
Tas2r110	T	C	6: 132,845,668 (GRCm39)	M233T	probably damaging	Het
Tmc3	C	A	7: 83,269,156 (GRCm39)	S781R	probably damaging	Het
Tmem234	G	T	4: 129,495,730 (GRCm39)		probably benign	Het
Trpm3	A	T	19: 22,882,078 (GRCm39)	Q645L	probably benign	Het
Ttn	C	A	2: 76,565,055 (GRCm39)	V28391F	probably damaging	Het
Txnrd3	G	T	6: 89,650,016 (GRCm39)	A425S	probably benign	Het
Ubr1	C	T	2: 120,793,903 (GRCm39)	G94R	probably benign	Het
Ufl1	A	G	4: 25,269,026 (GRCm39)		probably null	Het
Utp20	T	C	10: 88,604,735 (GRCm39)	D1720G	probably benign	Het
Vmn1r13	T	A	6: 57,186,901 (GRCm39)	M20K	probably benign	Het
Vmn1r61	A	G	7: 5,613,519 (GRCm39)	I265T	probably benign	Het
Zfp120	T	C	2: 149,961,862 (GRCm39)	T29A	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
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
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'- TGCTAGTTGCCTTCACCCTAGG -3'
(R):5'- TTCAGCATGGGGATCACTGTG -3'

Sequencing Primer
(F):5'- CACACAAGTGCTATGATGAGTCTG -3'
(R):5'- GGGATCACTGTGGTGTAGAAC -3'

Posted On

2016-06-15