Mutagenetix > Incidental Mutation

Incidental Mutation 'R7240:Or8b55'

563147

Institutional Source

Beutler Lab

Gene Symbol

Or8b55

Ensembl Gene

ENSMUSG00000043911

Gene Name

olfactory receptor family 8 subfamily B member 55

Synonyms

MOR161-3, Olfr922, GA_x6K02T2PVTD-32518237-32519172

MMRRC Submission

045347-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R7240 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38726704-38727835 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 38727009 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 70 (D70G)

Ref Sequence

ENSEMBL: ENSMUSP00000149057 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051004] [ENSMUST00000213164]

AlphaFold

Q8VG50

Predicted Effect

probably benign
Transcript: ENSMUST00000051004
AA Change: D70G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000057086
Gene: ENSMUSG00000043911
AA Change: D70G

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	9.3e-52	PFAM
Pfam:7tm_1	41	290	3.4e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213164
AA Change: D70G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

96% (50/52)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210017I01Rik	A	G	3: 92,512,382 (GRCm39)	I59T	unknown	Het
Aspm	C	T	1: 139,406,389 (GRCm39)	Q1759*	probably null	Het
Atn1	A	T	6: 124,724,861 (GRCm39)	I124K	unknown	Het
Catsper2	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	2: 121,228,053 (GRCm39)		probably benign	Het
Ccdc88c	C	T	12: 100,911,198 (GRCm39)	V879M	probably benign	Het
Cd300c	A	G	11: 114,850,609 (GRCm39)	C65R	possibly damaging	Het
Cd69	A	T	6: 129,247,005 (GRCm39)	S112T	possibly damaging	Het
Cdh19	T	C	1: 110,821,137 (GRCm39)	T534A	probably benign	Het
Cdk5rap2	T	A	4: 70,210,145 (GRCm39)	D701V	probably damaging	Het
D130052B06Rik	A	G	11: 33,573,874 (GRCm39)	H157R	possibly damaging	Het
Dpf1	T	A	7: 29,011,052 (GRCm39)	F150L	probably benign	Het
Dsg1c	T	C	18: 20,416,166 (GRCm39)	L689P	probably damaging	Het
Dstyk	G	A	1: 132,381,861 (GRCm39)	M538I	probably benign	Het
E4f1	T	A	17: 24,663,299 (GRCm39)	I669F	probably damaging	Het
Gm7138	T	C	10: 77,612,589 (GRCm39)	T64A	unknown	Het
Gnai2	A	C	9: 107,492,972 (GRCm39)	D310E		Het
Iqca1	A	G	1: 89,998,272 (GRCm39)	V567A	possibly damaging	Het
Iqgap1	A	T	7: 80,409,587 (GRCm39)	N249K	probably benign	Het
Lamc1	A	G	1: 153,110,396 (GRCm39)	V1093A	possibly damaging	Het
Mfap3	A	G	11: 57,420,582 (GRCm39)	K188E	probably damaging	Het
N4bp2	T	A	5: 65,951,888 (GRCm39)	V431D	probably damaging	Het
Notch4	A	G	17: 34,795,445 (GRCm39)	T792A	probably benign	Het
Ntn4	A	G	10: 93,581,603 (GRCm39)	H592R	probably damaging	Het
Ofcc1	A	G	13: 40,362,317 (GRCm39)	C202R	probably benign	Het
Or10j2	T	C	1: 173,098,561 (GRCm39)	I273T	probably benign	Het
Or2a7	A	G	6: 43,151,435 (GRCm39)	K172E	probably benign	Het
Or5p55	T	C	7: 107,567,395 (GRCm39)	S264P	probably benign	Het
Or5p72	A	G	7: 108,022,140 (GRCm39)	M121V	probably damaging	Het
Or8g24	A	T	9: 38,989,906 (GRCm39)	M45K	probably damaging	Het
Parpbp	G	A	10: 87,960,802 (GRCm39)	T228I	probably damaging	Het
Pcdhgb8	G	A	18: 37,896,756 (GRCm39)	V609M	probably damaging	Het
Pla2g4d	T	C	2: 120,100,830 (GRCm39)	N543S	probably damaging	Het
Puf60	A	G	15: 75,944,388 (GRCm39)		probably benign	Het
Rbm6	A	T	9: 107,730,095 (GRCm39)	D184E	probably damaging	Het
Rnase9	A	C	14: 51,276,436 (GRCm39)	S181A	probably benign	Het
Rnpc3	T	A	3: 113,410,480 (GRCm39)	R270S	probably damaging	Het
Rundc1	T	C	11: 101,322,374 (GRCm39)		probably null	Het
Ryr1	T	C	7: 28,751,440 (GRCm39)	S3715G	possibly damaging	Het
Scn3a	A	T	2: 65,299,386 (GRCm39)	D1373E	possibly damaging	Het
Serpina3k	T	G	12: 104,306,861 (GRCm39)	I31S	probably benign	Het
Sipa1l2	A	G	8: 126,196,599 (GRCm39)	F712L	probably damaging	Het
Slc22a29	A	G	19: 8,138,875 (GRCm39)	V529A	probably damaging	Het
Tdrd3	A	G	14: 87,696,239 (GRCm39)	N58S	probably benign	Het
Tmc2	C	T	2: 130,076,724 (GRCm39)	T350I	possibly damaging	Het
Tpst2	T	C	5: 112,455,544 (GRCm39)	C28R	probably benign	Het
Trbv21	A	T	6: 41,179,892 (GRCm39)	K69N	probably benign	Het
Trpm2	A	G	10: 77,771,710 (GRCm39)		probably null	Het
Ttn	A	G	2: 76,679,334 (GRCm39)	V10796A	unknown	Het
Ush2a	A	G	1: 188,643,858 (GRCm39)	T4407A	possibly damaging	Het
Vmn2r95	A	G	17: 18,672,225 (GRCm39)	H726R	probably benign	Het
Zfp777	A	G	6: 48,021,383 (GRCm39)	S80P	probably benign	Het

Other mutations in Or8b55

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01631:Or8b55	APN	9	38,727,335 (GRCm39)	missense	probably damaging	0.99
IGL02445:Or8b55	APN	9	38,726,901 (GRCm39)	missense	possibly damaging	0.57
R1758:Or8b55	UTSW	9	38,726,871 (GRCm39)	missense	probably benign
R1759:Or8b55	UTSW	9	38,727,194 (GRCm39)	missense	probably damaging	1.00
R1809:Or8b55	UTSW	9	38,727,443 (GRCm39)	missense	probably benign
R1938:Or8b55	UTSW	9	38,727,146 (GRCm39)	missense	probably benign	0.33
R2177:Or8b55	UTSW	9	38,727,482 (GRCm39)	missense	possibly damaging	0.82
R3438:Or8b55	UTSW	9	38,727,512 (GRCm39)	missense	probably damaging	0.99
R3815:Or8b55	UTSW	9	38,727,722 (GRCm39)	missense	possibly damaging	0.47
R3816:Or8b55	UTSW	9	38,727,722 (GRCm39)	missense	possibly damaging	0.47
R3817:Or8b55	UTSW	9	38,727,722 (GRCm39)	missense	possibly damaging	0.47
R3819:Or8b55	UTSW	9	38,727,722 (GRCm39)	missense	possibly damaging	0.47
R3859:Or8b55	UTSW	9	38,727,443 (GRCm39)	missense	probably benign
R4768:Or8b55	UTSW	9	38,727,245 (GRCm39)	missense	probably damaging	1.00
R5082:Or8b55	UTSW	9	38,727,441 (GRCm39)	missense	possibly damaging	0.70
R5659:Or8b55	UTSW	9	38,727,072 (GRCm39)	missense	probably benign	0.01
R5813:Or8b55	UTSW	9	38,726,952 (GRCm39)	missense	probably benign	0.00
R6226:Or8b55	UTSW	9	38,727,666 (GRCm39)	missense	probably damaging	0.99
R7966:Or8b55	UTSW	9	38,727,536 (GRCm39)	missense	probably benign	0.11
R8751:Or8b55	UTSW	9	38,727,335 (GRCm39)	missense	probably damaging	0.99
R8868:Or8b55	UTSW	9	38,727,285 (GRCm39)	missense	probably damaging	1.00
R9121:Or8b55	UTSW	9	38,726,976 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CATTACTGAGTTTATCCTGGTTGGC -3'
(R):5'- AGCATACCTGAGGGGACATG -3'

Sequencing Primer
(F):5'- CCTGGTTGGCTTAACAGAATATACAG -3'
(R):5'- CAGTGTACAACAGGGGCTTAC -3'

Posted On

2019-06-26