Mutagenetix > Incidental Mutation

Incidental Mutation 'R5775:Or8b40'

448733

Institutional Source

Beutler Lab

Gene Symbol

Or8b40

Ensembl Gene

ENSMUSG00000096356

Gene Name

olfactory receptor family 8 subfamily B member 40

Synonyms

GA_x6K02T2PVTD-31795028-31795957, Olfr889, MOR162-2

MMRRC Submission

043374-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R5775 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38027094-38028023 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 38027423 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 110 (E110D)

Ref Sequence

ENSEMBL: ENSMUSP00000148913 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072290] [ENSMUST00000211851] [ENSMUST00000217286]

AlphaFold

L7N1Y6

Predicted Effect

probably damaging
Transcript: ENSMUST00000072290
AA Change: E115D

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

SMART Domains

Protein: ENSMUSP00000072137
Gene: ENSMUSG00000096356
AA Change: E115D

Domain	Start	End	E-Value	Type
Pfam:7tm_4	36	311	4.4e-50	PFAM
Pfam:7tm_1	46	293	1e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000211851

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213042
AA Change: E110D

Predicted Effect

probably damaging
Transcript: ENSMUST00000217286
AA Change: E110D

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

97% (59/61)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6a	A	G	12: 113,509,886 (GRCm39)	D753G	possibly damaging	Het
Arpc2	T	A	1: 74,295,108 (GRCm39)		probably null	Het
Atxn2	C	T	5: 121,951,512 (GRCm39)	T619M	probably damaging	Het
Cacna1s	T	C	1: 136,035,860 (GRCm39)	Y1120H	probably damaging	Het
Calm5	T	C	13: 3,904,435 (GRCm39)	L20S	probably damaging	Het
Carmil1	T	C	13: 24,460,520 (GRCm39)	I20V	probably benign	Het
Cd177	T	C	7: 24,451,693 (GRCm39)	E441G	probably damaging	Het
Cd63	T	A	10: 128,746,299 (GRCm39)	C9S	probably damaging	Het
Cep250	A	C	2: 155,811,294 (GRCm39)	D380A	possibly damaging	Het
Col5a3	G	T	9: 20,712,368 (GRCm39)	P509Q	unknown	Het
Cyp11b2	A	G	15: 74,725,327 (GRCm39)	V264A	probably benign	Het
Dennd6a	T	A	14: 26,340,528 (GRCm39)	L214*	probably null	Het
Dna2	A	G	10: 62,785,021 (GRCm39)	N46S	possibly damaging	Het
Elovl1	G	A	4: 118,288,094 (GRCm39)	V77I	probably benign	Het
Eml1	A	T	12: 108,472,813 (GRCm39)	Y207F	probably damaging	Het
Epha6	C	T	16: 59,639,357 (GRCm39)	R839Q	possibly damaging	Het
Erlec1	A	T	11: 30,893,848 (GRCm39)	S105T	probably benign	Het
Esp3	T	A	17: 40,944,468 (GRCm39)	S37T	possibly damaging	Het
Foxh1	G	A	15: 76,554,049 (GRCm39)	A8V	probably benign	Het
Fut1	A	C	7: 45,268,886 (GRCm39)	D280A	probably damaging	Het
Gm13998	G	T	2: 119,708,892 (GRCm39)		noncoding transcript	Het
Gm7247	C	T	14: 51,601,805 (GRCm39)	S26F	probably benign	Het
H2az1	T	C	3: 137,571,380 (GRCm39)	Y61H	probably damaging	Het
Kcns1	T	C	2: 164,006,686 (GRCm39)	I426V	probably damaging	Het
Kdm4c	T	G	4: 74,277,668 (GRCm39)	V774G	probably damaging	Het
Mrc2	G	A	11: 105,228,639 (GRCm39)	V673I	probably benign	Het
Mtnr1b	G	A	9: 15,774,168 (GRCm39)	A297V	possibly damaging	Het
Or5d43	A	T	2: 88,105,045 (GRCm39)	M116K	probably damaging	Het
Osbpl5	A	T	7: 143,258,266 (GRCm39)	V346D	probably benign	Het
Pdzrn4	A	T	15: 92,655,562 (GRCm39)	E485V	probably damaging	Het
Pgpep1	G	A	8: 71,105,101 (GRCm39)	T53M	probably damaging	Het
Pigo	T	C	4: 43,023,475 (GRCm39)	D233G	probably damaging	Het
Pmm1	A	T	15: 81,836,156 (GRCm39)	I152N	probably benign	Het
Pot1a	A	T	6: 25,757,297 (GRCm39)		probably null	Het
Ppp1r12b	G	T	1: 134,803,780 (GRCm39)	L460I	probably benign	Het
Prrc2a	T	C	17: 35,377,463 (GRCm39)	D565G	unknown	Het
Psd	C	A	19: 46,303,211 (GRCm39)	E724*	probably null	Het
Rasa2	C	T	9: 96,459,521 (GRCm39)		probably null	Het
Rsbn1	A	T	3: 103,869,888 (GRCm39)	Q783L	possibly damaging	Het
Ryr2	T	C	13: 11,784,848 (GRCm39)	Y1035C	probably damaging	Het
Sec24d	C	T	3: 123,084,109 (GRCm39)	A96V	probably benign	Het
Sec61a2	A	T	2: 5,887,585 (GRCm39)		probably null	Het
Sec62	A	G	3: 30,847,436 (GRCm39)		probably benign	Het
Tcstv2a	T	A	13: 120,725,475 (GRCm39)	C46*	probably null	Het
Tmem132b	T	A	5: 125,715,394 (GRCm39)		probably null	Het
Tnip3	A	G	6: 65,591,741 (GRCm39)	S247G	probably benign	Het
Traf3	A	G	12: 111,219,162 (GRCm39)	K263R	possibly damaging	Het
Tubgcp3	A	T	8: 12,675,056 (GRCm39)	I713N	probably damaging	Het
Unc5c	A	G	3: 141,534,281 (GRCm39)	E860G	probably damaging	Het
Usp44	A	G	10: 93,681,840 (GRCm39)	S97G	possibly damaging	Het
Vmn2r129	G	T	4: 156,686,692 (GRCm39)		noncoding transcript	Het
Vps37a	A	G	8: 40,982,160 (GRCm39)	H109R	probably damaging	Het
Wfikkn2	G	T	11: 94,129,114 (GRCm39)	D342E	probably benign	Het
Zfp354b	A	T	11: 50,813,647 (GRCm39)	F426Y	probably benign	Het
Zfp462	C	A	4: 55,010,590 (GRCm39)	T852N	probably damaging	Het
Zfp987	T	G	4: 146,061,505 (GRCm39)	S312R	probably benign	Het

Other mutations in Or8b40

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02201:Or8b40	APN	9	38,027,893 (GRCm39)	missense	probably benign	0.02
IGL02604:Or8b40	APN	9	38,027,148 (GRCm39)	nonsense	probably null
IGL02727:Or8b40	APN	9	38,027,808 (GRCm39)	missense	probably damaging	0.99
R0364:Or8b40	UTSW	9	38,027,325 (GRCm39)	missense	probably benign	0.26
R0387:Or8b40	UTSW	9	38,027,066 (GRCm39)	splice site	probably null
R0409:Or8b40	UTSW	9	38,027,547 (GRCm39)	missense	probably benign
R0515:Or8b40	UTSW	9	38,027,313 (GRCm39)	missense	probably damaging	1.00
R0693:Or8b40	UTSW	9	38,027,325 (GRCm39)	missense	probably benign	0.26
R1554:Or8b40	UTSW	9	38,027,230 (GRCm39)	missense	probably benign	0.01
R1972:Or8b40	UTSW	9	38,027,863 (GRCm39)	missense	possibly damaging	0.79
R1973:Or8b40	UTSW	9	38,027,863 (GRCm39)	missense	possibly damaging	0.79
R3815:Or8b40	UTSW	9	38,027,922 (GRCm39)	missense	possibly damaging	0.94
R3816:Or8b40	UTSW	9	38,027,922 (GRCm39)	missense	possibly damaging	0.94
R3817:Or8b40	UTSW	9	38,027,922 (GRCm39)	missense	possibly damaging	0.94
R3819:Or8b40	UTSW	9	38,027,922 (GRCm39)	missense	possibly damaging	0.94
R5532:Or8b40	UTSW	9	38,027,923 (GRCm39)	missense	probably benign	0.12
R5931:Or8b40	UTSW	9	38,027,670 (GRCm39)	missense	probably benign	0.00
R6458:Or8b40	UTSW	9	38,027,350 (GRCm39)	missense	possibly damaging	0.90
R6751:Or8b40	UTSW	9	38,027,271 (GRCm39)	missense	probably damaging	1.00
R7168:Or8b40	UTSW	9	38,027,959 (GRCm39)	missense	probably damaging	1.00
R7673:Or8b40	UTSW	9	38,027,523 (GRCm39)	missense	probably benign	0.00
R7698:Or8b40	UTSW	9	38,027,188 (GRCm39)	nonsense	probably null
R8432:Or8b40	UTSW	9	38,027,272 (GRCm39)	missense	probably damaging	1.00
R9034:Or8b40	UTSW	9	38,027,550 (GRCm39)	missense	possibly damaging	0.83
R9236:Or8b40	UTSW	9	38,027,496 (GRCm39)	missense	possibly damaging	0.47
R9561:Or8b40	UTSW	9	38,028,010 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GATTGTGTTGAATCCTCCCCTG -3'
(R):5'- TTGTGCAGGAGAGCTTCAGG -3'

Sequencing Primer
(F):5'- GTTGAATCCTCCCCTGCACAC -3'
(R):5'- CTTCAGGAGAGGGGGTATGTCAC -3'

Posted On

2016-12-15