Mutagenetix > Incidental Mutation

Incidental Mutation 'R7732:Or8d1b'

595916

Institutional Source

Beutler Lab

Gene Symbol

Or8d1b

Ensembl Gene

ENSMUSG00000058515

Gene Name

olfactory receptor family 8 subfamily D member 1B

Synonyms

GA_x6K02T2PVTD-32671531-32672457, Olfr933, MOR171-22

MMRRC Submission

045788-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R7732 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38886974-38887900 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 38887560 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 196 (E196G)

Ref Sequence

ENSEMBL: ENSMUSP00000149292 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075680] [ENSMUST00000214324] [ENSMUST00000216238] [ENSMUST00000216823]

AlphaFold

Q9EQA0

Predicted Effect

probably damaging
Transcript: ENSMUST00000075680
AA Change: E196G

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

SMART Domains

Protein: ENSMUSP00000075102
Gene: ENSMUSG00000058515
AA Change: E196G

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	1.3e-50	PFAM
Pfam:7tm_1	41	290	3.9e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000214324

Predicted Effect

probably damaging
Transcript: ENSMUST00000216238
AA Change: E196G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000216823

Meta Mutation Damage Score

0.3608

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (73/73)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	A	T	15: 91,075,451 (GRCm39)	S121T	possibly damaging	Het
Alpk1	T	C	3: 127,478,041 (GRCm39)	M69V		Het
Ap3m2	G	T	8: 23,287,105 (GRCm39)	D192E	probably benign	Het
Arel1	A	G	12: 84,974,663 (GRCm39)	V493A	probably benign	Het
Arhgap27	T	C	11: 103,230,869 (GRCm39)	H140R	probably benign	Het
Bcat2	C	T	7: 45,234,617 (GRCm39)	T166M	possibly damaging	Het
Brd4	C	A	17: 32,440,386 (GRCm39)	A318S	unknown	Het
Cabp4	T	A	19: 4,185,994 (GRCm39)	T270S	probably benign	Het
Cd22	G	A	7: 30,569,482 (GRCm39)	R545C	probably damaging	Het
Cdc23	C	A	18: 34,769,755 (GRCm39)		probably null	Het
Chst4	G	A	8: 110,756,514 (GRCm39)	Q450*	probably null	Het
Ctsc	G	A	7: 87,946,367 (GRCm39)	R132Q	probably damaging	Het
Cyp2b19	A	G	7: 26,470,769 (GRCm39)	D470G	possibly damaging	Het
Dcc	C	T	18: 71,579,506 (GRCm39)	G689D	probably benign	Het
Disc1	G	T	8: 125,977,714 (GRCm39)	G779*	probably null	Het
Dock1	T	G	7: 134,346,699 (GRCm39)	D210E	probably benign	Het
Dynlt1a	A	G	17: 6,365,220 (GRCm39)	V14A	probably benign	Het
Dynlt2a3	A	G	17: 15,187,947 (GRCm39)	V109A	probably benign	Het
Epha10	A	G	4: 124,809,092 (GRCm39)	D779G		Het
Eprs1	A	G	1: 185,105,136 (GRCm39)	H137R	probably benign	Het
Eps15l1	A	C	8: 73,134,820 (GRCm39)	L447R	probably damaging	Het
Esyt1	A	G	10: 128,357,694 (GRCm39)		probably null	Het
Fam221a	A	G	6: 49,349,563 (GRCm39)	K43E	probably benign	Het
Fanci	A	G	7: 79,062,400 (GRCm39)	S309G	possibly damaging	Het
Fbxo48	T	A	11: 16,903,601 (GRCm39)	W76R	probably damaging	Het
Fgd4	A	G	16: 16,302,459 (GRCm39)	V32A	probably benign	Het
Foxe1	A	T	4: 46,345,287 (GRCm39)	D365V	unknown	Het
Gabrd	C	T	4: 155,470,075 (GRCm39)	R378H	probably benign	Het
Greb1	A	G	12: 16,723,864 (GRCm39)	S1862P	probably damaging	Het
H2al2b	T	C	Y: 2,720,436 (GRCm39)	H80R	possibly damaging	Het
Hectd4	T	C	5: 121,474,692 (GRCm39)	V2771A	probably benign	Het
Hoxa11	A	T	6: 52,220,415 (GRCm39)	F289L	probably damaging	Het
Hsp90aa1	A	G	12: 110,659,852 (GRCm39)	V412A	probably damaging	Het
Igsf11	A	G	16: 38,829,160 (GRCm39)	Q77R	probably damaging	Het
Lrig1	C	A	6: 94,603,358 (GRCm39)	M263I	probably benign	Het
Ms4a14	C	T	19: 11,279,047 (GRCm39)	M1170I	probably benign	Het
Ndufs7	G	A	10: 80,089,618 (GRCm39)		probably null	Het
Nectin4	A	T	1: 171,214,246 (GRCm39)	E467V	probably benign	Het
Otogl	G	A	10: 107,642,525 (GRCm39)	H1302Y	probably benign	Het
Pigg	A	G	5: 108,466,841 (GRCm39)	S241G	probably benign	Het
Pip4p1	C	T	14: 51,168,090 (GRCm39)	G48D	possibly damaging	Het
Pom121l12	T	A	11: 14,549,843 (GRCm39)	V183D	probably damaging	Het
Prickle2	T	A	6: 92,388,205 (GRCm39)	E455V	probably damaging	Het
Ptpn4	A	C	1: 119,620,532 (GRCm39)	V488G	probably benign	Het
Ranbp10	A	G	8: 106,499,723 (GRCm39)	I502T	probably benign	Het
Raph1	T	A	1: 60,572,447 (GRCm39)	Q40L	possibly damaging	Het
Rgs22	A	T	15: 36,026,127 (GRCm39)	C1056S	probably damaging	Het
Serpinb6b	G	A	13: 33,152,590 (GRCm39)	S33N	probably damaging	Het
Serpinb6d	A	G	13: 33,853,082 (GRCm39)	N158S	probably benign	Het
Serping1	A	T	2: 84,600,448 (GRCm39)	V298D	probably damaging	Het
Sgsm1	T	A	5: 113,414,196 (GRCm39)	H637L	probably benign	Het
Sh3rf2	G	T	18: 42,234,753 (GRCm39)	V179L	probably damaging	Het
Slc1a3	T	C	15: 8,680,472 (GRCm39)	T129A	probably benign	Het
Slit1	T	A	19: 41,592,847 (GRCm39)	Y1202F	probably benign	Het
Spsb2	T	C	6: 124,786,656 (GRCm39)	S130P	probably damaging	Het
Sulf1	A	G	1: 12,913,013 (GRCm39)	D749G	probably benign	Het
Taok3	A	G	5: 117,331,813 (GRCm39)	E10G	possibly damaging	Het
Tbl3	G	T	17: 24,923,136 (GRCm39)	A368D	probably benign	Het
Tdh	T	A	14: 63,733,507 (GRCm39)	H127L	probably damaging	Het
Tmem205	C	A	9: 21,838,703 (GRCm39)		probably null	Het
Tmem30a	A	C	9: 79,687,826 (GRCm39)	F114L	possibly damaging	Het
Tmprss15	T	C	16: 78,800,308 (GRCm39)	K607E	probably benign	Het
Tnxb	A	T	17: 34,913,254 (GRCm39)	D1756V	probably damaging	Het
Trhde	A	G	10: 114,623,969 (GRCm39)	F312L	probably benign	Het
Ttn	G	A	2: 76,656,793 (GRCm39)	P12494L	probably null	Het
Vmn2r61	A	G	7: 41,916,097 (GRCm39)	R237G	probably benign	Het
Vps13c	A	T	9: 67,847,798 (GRCm39)	N2187Y	probably damaging	Het
Wdr64	A	G	1: 175,617,495 (GRCm39)	T692A	probably benign	Het
Whamm	A	G	7: 81,221,172 (GRCm39)	N35D	probably damaging	Het
Wnt2	T	C	6: 18,023,335 (GRCm39)	S105G	probably damaging	Het
Zfp108	T	A	7: 23,960,952 (GRCm39)	H514Q	probably benign	Het
Zftraf1	C	T	15: 76,532,386 (GRCm39)	D241N	probably benign	Het
Znfx1	T	C	2: 166,884,589 (GRCm39)	K888E	possibly damaging	Het
Zzz3	T	C	3: 152,154,479 (GRCm39)	Y577H	probably damaging	Het

Other mutations in Or8d1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02040:Or8d1b	APN	9	38,887,910 (GRCm39)	unclassified	probably benign
IGL03057:Or8d1b	APN	9	38,887,514 (GRCm39)	missense	probably benign	0.04
R0225:Or8d1b	UTSW	9	38,887,574 (GRCm39)	missense	probably benign	0.00
R0234:Or8d1b	UTSW	9	38,887,547 (GRCm39)	splice site	probably null
R0234:Or8d1b	UTSW	9	38,887,547 (GRCm39)	splice site	probably null
R1479:Or8d1b	UTSW	9	38,887,058 (GRCm39)	missense	probably benign
R1710:Or8d1b	UTSW	9	38,887,202 (GRCm39)	missense	probably damaging	0.97
R1717:Or8d1b	UTSW	9	38,887,706 (GRCm39)	missense	probably damaging	1.00
R1865:Or8d1b	UTSW	9	38,887,200 (GRCm39)	missense	probably benign	0.01
R2258:Or8d1b	UTSW	9	38,887,296 (GRCm39)	missense	probably benign	0.02
R2259:Or8d1b	UTSW	9	38,887,296 (GRCm39)	missense	probably benign	0.02
R2260:Or8d1b	UTSW	9	38,887,296 (GRCm39)	missense	probably benign	0.02
R4155:Or8d1b	UTSW	9	38,887,451 (GRCm39)	missense	probably damaging	0.99
R4299:Or8d1b	UTSW	9	38,887,055 (GRCm39)	missense	probably damaging	1.00
R4452:Or8d1b	UTSW	9	38,887,382 (GRCm39)	missense	probably benign	0.02
R5379:Or8d1b	UTSW	9	38,887,151 (GRCm39)	missense	possibly damaging	0.81
R6340:Or8d1b	UTSW	9	38,887,062 (GRCm39)	missense	probably damaging	1.00
R6497:Or8d1b	UTSW	9	38,887,490 (GRCm39)	missense	probably benign
R7039:Or8d1b	UTSW	9	38,887,283 (GRCm39)	missense	probably damaging	1.00
R7378:Or8d1b	UTSW	9	38,887,017 (GRCm39)	missense	probably benign
R7453:Or8d1b	UTSW	9	38,887,500 (GRCm39)	missense	probably damaging	1.00
R7762:Or8d1b	UTSW	9	38,887,490 (GRCm39)	missense	probably benign
R9018:Or8d1b	UTSW	9	38,887,687 (GRCm39)	missense	probably benign	0.22
R9062:Or8d1b	UTSW	9	38,887,421 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CCAGACTTTGCTCACTGCTAG -3'
(R):5'- CCTTCTCTTGCTCCAGAGAG -3'

Sequencing Primer
(F):5'- CACTGCTAGTGTTGGTTGCTTTCATC -3'
(R):5'- CTCTTGCTCCAGAGAGTTACTTGAAG -3'

Posted On

2019-11-12