Mutagenetix > Incidental Mutation

Incidental Mutation 'R5379:Or8d1b'

425755

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

042954-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R5379 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38886974-38887900 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 38887151 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 60 (Y60H)

Ref Sequence

ENSEMBL: ENSMUSP00000149292 (fasta)

Gene Model

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

AlphaFold

Q9EQA0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000075680
AA Change: Y60H

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000075102
Gene: ENSMUSG00000058515
AA Change: Y60H

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

possibly damaging
Transcript: ENSMUST00000216238
AA Change: Y60H

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)

Meta Mutation Damage Score

0.1862

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

97% (58/60)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy1	T	A	11: 7,096,532 (GRCm39)	L640Q	probably damaging	Het
Afap1l1	T	C	18: 61,891,721 (GRCm39)	E32G	probably damaging	Het
Atp1a1	T	A	3: 101,489,411 (GRCm39)	M734L	probably benign	Het
B4galt6	T	C	18: 20,822,296 (GRCm39)	D294G	probably damaging	Het
Baz1a	T	G	12: 54,941,133 (GRCm39)	D1539A	probably damaging	Het
Bmper	T	A	9: 23,208,520 (GRCm39)	S141T	probably benign	Het
Camkv	T	C	9: 107,822,545 (GRCm39)	V20A	probably damaging	Het
Chst8	A	G	7: 34,375,279 (GRCm39)	Y187H	probably damaging	Het
Coro1c	A	G	5: 113,983,443 (GRCm39)	Y362H	probably damaging	Het
Csmd3	C	A	15: 47,499,846 (GRCm39)	G3008*	probably null	Het
Dnah17	T	C	11: 118,008,029 (GRCm39)		probably benign	Het
Dnajb1	C	T	8: 84,335,135 (GRCm39)	R59C	possibly damaging	Het
Dpf1	A	G	7: 29,003,533 (GRCm39)	K10E	probably benign	Het
Eif5	T	C	12: 111,509,989 (GRCm39)	L311P	probably damaging	Het
Eqtn	A	G	4: 94,795,825 (GRCm39)	F251S	probably damaging	Het
Fancg	A	G	4: 43,002,998 (GRCm39)	S620P	probably benign	Het
Farp1	T	C	14: 121,494,169 (GRCm39)	V550A	possibly damaging	Het
Fat2	T	C	11: 55,194,767 (GRCm39)	T1091A	probably damaging	Het
Fbxo33	A	G	12: 59,266,246 (GRCm39)		probably benign	Het
Fndc5	A	T	4: 129,035,887 (GRCm39)	I175F	probably damaging	Het
Gtf2ird2	G	C	5: 134,246,310 (GRCm39)	R856P	probably benign	Het
Hc	A	T	2: 34,881,077 (GRCm39)	F1481I	probably damaging	Het
Helz2	T	A	2: 180,876,862 (GRCm39)	T1211S	probably benign	Het
Hmcn2	G	A	2: 31,299,023 (GRCm39)	V2790M	probably damaging	Het
Ighv1-82	T	C	12: 115,916,297 (GRCm39)	Y71C	probably damaging	Het
Itgam	A	G	7: 127,711,560 (GRCm39)	D725G	probably damaging	Het
Kif9	T	C	9: 110,350,371 (GRCm39)	V754A	probably benign	Het
Larp4b	C	A	13: 9,186,945 (GRCm39)	T91K	probably benign	Het
Mki67	T	C	7: 135,299,190 (GRCm39)	E1948G	possibly damaging	Het
Mllt6	G	A	11: 97,560,326 (GRCm39)	S210N	possibly damaging	Het
Mrgprb13	A	T	7: 47,961,496 (GRCm39)		noncoding transcript	Het
Nlrc4	A	T	17: 74,755,078 (GRCm39)	L46*	probably null	Het
Or13c7c	A	G	4: 43,836,010 (GRCm39)	I160T	probably benign	Het
Or7g21	A	T	9: 19,032,373 (GRCm39)	T38S	probably damaging	Het
Orm1	A	G	4: 63,264,230 (GRCm39)		probably null	Het
Parva	A	T	7: 112,178,927 (GRCm39)	H311L	probably benign	Het
Pramel25	A	G	4: 143,521,493 (GRCm39)	I370V	probably benign	Het
Proca1	C	A	11: 78,096,092 (GRCm39)	S154R	probably damaging	Het
R3hdm2	T	C	10: 127,307,771 (GRCm39)	V344A	probably damaging	Het
Rabep1	A	T	11: 70,799,247 (GRCm39)	K293N	probably damaging	Het
Ranbp6	A	G	19: 29,789,083 (GRCm39)	V423A	probably damaging	Het
Rnf20	T	A	4: 49,652,639 (GRCm39)	Y711N	possibly damaging	Het
Sf3b1	A	T	1: 55,042,309 (GRCm39)	M498K	possibly damaging	Het
Sin3a	T	C	9: 57,018,272 (GRCm39)	M897T	probably benign	Het
Sp140	T	A	1: 85,538,549 (GRCm39)	D95E	possibly damaging	Het
Srbd1	A	C	17: 86,308,964 (GRCm39)	I738S	possibly damaging	Het
Srsf11	C	T	3: 157,728,981 (GRCm39)		probably benign	Het
Svep1	A	G	4: 58,072,991 (GRCm39)	V2106A	possibly damaging	Het
Tasor2	T	C	13: 3,638,496 (GRCm39)	R412G	probably benign	Het
Tex47	G	A	5: 7,354,843 (GRCm39)	R8Q	probably null	Het
Trpc7	A	G	13: 56,952,363 (GRCm39)	Y548H	probably damaging	Het
Vmn1r170	A	T	7: 23,306,054 (GRCm39)	H152L	possibly damaging	Het
Zfp184	A	G	13: 22,144,051 (GRCm39)	I586V	probably damaging	Het
Zfp454	T	C	11: 50,774,629 (GRCm39)	T15A	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
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
R7732:Or8d1b	UTSW	9	38,887,560 (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'- TTTCAAAGAATGGGCACTGGG -3'
(R):5'- AGCAATGGTCTACAGATGGCC -3'

Sequencing Primer
(F):5'- GGCACTGGGAATCATTCTGTAAC -3'
(R):5'- TAGCGATCATATGCCATGGC -3'

Posted On

2016-08-04