Mutagenetix > Incidental Mutation

Incidental Mutation 'R7114:Or8g28'

551684

Institutional Source

Beutler Lab

Gene Symbol

Or8g28

Ensembl Gene

ENSMUSG00000063380

Gene Name

olfactory receptor family 8 subfamily G member 28

Synonyms

MOR171-20, Olfr945, GA_x6K02T2PVTD-32955932-32954982

MMRRC Submission

045244-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R7114 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

39169016-39169975 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 39169897 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 24 (Q24K)

Ref Sequence

ENSEMBL: ENSMUSP00000151086 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076903] [ENSMUST00000216698]

AlphaFold

Q9EQB5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000076903
AA Change: Q27K

PolyPhen 2 Score 0.751 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000076169
Gene: ENSMUSG00000063380
AA Change: Q27K

Domain	Start	End	E-Value	Type
Pfam:7tm_4	34	311	1.2e-50	PFAM
Pfam:7tm_1	44	293	2.3e-23	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216698
AA Change: Q24K

PolyPhen 2 Score 0.751 (Sensitivity: 0.85; Specificity: 0.92)

Meta Mutation Damage Score

0.1248

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (59/60)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	C	T	11: 119,900,445 (GRCm39)	A1291T	probably benign	Het
Anks1b	G	A	10: 90,143,560 (GRCm39)	R523Q	probably damaging	Het
Arhgap12	T	A	18: 6,028,056 (GRCm39)	I690F	probably damaging	Het
Caln1	T	C	5: 130,868,124 (GRCm39)	V220A	possibly damaging	Het
Cd79b	T	A	11: 106,202,713 (GRCm39)	T263S	probably damaging	Het
Cep290	A	T	10: 100,379,220 (GRCm39)	K67N	probably damaging	Het
Col19a1	T	C	1: 24,377,017 (GRCm39)	T443A	possibly damaging	Het
Col25a1	A	G	3: 130,389,324 (GRCm39)	I636V	probably benign	Het
Col9a3	C	T	2: 180,245,590 (GRCm39)	P154S	unknown	Het
Cyp3a11	T	A	5: 145,795,593 (GRCm39)	M453L	probably benign	Het
Disp1	C	A	1: 182,869,030 (GRCm39)	R1130L	probably damaging	Het
Eno1b	T	C	18: 48,180,560 (GRCm39)	V246A	possibly damaging	Het
Eogt	T	C	6: 97,092,965 (GRCm39)	Y404C	probably damaging	Het
Ephx3	T	A	17: 32,404,006 (GRCm39)	E380V	possibly damaging	Het
Fancl	T	C	11: 26,357,615 (GRCm39)	L114P	probably damaging	Het
Flad1	C	T	3: 89,314,837 (GRCm39)	G287S	probably benign	Het
Gcm1	G	T	9: 77,967,061 (GRCm39)	K93N	probably damaging	Het
Golga3	T	A	5: 110,350,578 (GRCm39)	D704E	probably benign	Het
Grb14	A	C	2: 64,747,197 (GRCm39)	I451S	probably damaging	Het
Gtf3c3	T	C	1: 54,462,666 (GRCm39)	N366D	probably benign	Het
Hecw1	A	T	13: 14,486,356 (GRCm39)	H376Q	probably benign	Het
Helb	A	T	10: 119,941,161 (GRCm39)	V509E	probably benign	Het
Hephl1	C	T	9: 14,981,111 (GRCm39)	E774K	probably damaging	Het
Hkdc1	T	C	10: 62,229,622 (GRCm39)	E685G	probably damaging	Het
Igfn1	T	C	1: 135,894,519 (GRCm39)	T2016A	probably benign	Het
Igkv5-43	T	G	6: 69,800,515 (GRCm39)	Q57H	probably damaging	Het
Lamc3	T	A	2: 31,820,657 (GRCm39)	V1224E	probably damaging	Het
Lgals3bp	C	T	11: 118,284,309 (GRCm39)	W423*	probably null	Het
Mcm9	G	A	10: 53,414,669 (GRCm39)	T137I	possibly damaging	Het
Mdga1	C	A	17: 30,061,816 (GRCm39)		probably null	Het
Mocos	C	T	18: 24,799,572 (GRCm39)	P269S	probably damaging	Het
Naa40	A	G	19: 7,207,322 (GRCm39)	V134A	probably damaging	Het
Neb	G	A	2: 52,082,571 (GRCm39)	L5680F	probably damaging	Het
Nedd9	A	G	13: 41,492,099 (GRCm39)	V137A	probably benign	Het
Nup133	T	C	8: 124,642,112 (GRCm39)	I784V	probably benign	Het
Nup214	T	C	2: 31,915,256 (GRCm39)	S1147P	possibly damaging	Het
Or10x4	A	T	1: 174,218,805 (GRCm39)	M57L	probably damaging	Het
Plcb4	T	A	2: 135,824,043 (GRCm39)		probably null	Het
Pomt1	C	T	2: 32,143,848 (GRCm39)	T671I	probably benign	Het
Pomt2	G	T	12: 87,157,150 (GRCm39)	P723H	probably damaging	Het
Prpf8	T	A	11: 75,394,181 (GRCm39)	Y1741*	probably null	Het
Ptprs	C	G	17: 56,758,697 (GRCm39)	V175L	probably benign	Het
Slc36a4	T	C	9: 15,633,250 (GRCm39)	F95L	probably benign	Het
Smn1	C	T	13: 100,267,648 (GRCm39)	P225S	probably benign	Het
Snrpa	A	T	7: 26,891,174 (GRCm39)	I99N	probably benign	Het
Tgm5	G	T	2: 120,878,977 (GRCm39)	Y588*	probably null	Het
Tmeff2	T	A	1: 51,224,404 (GRCm39)		probably null	Het
Tmem120b	T	C	5: 123,254,741 (GRCm39)	F314S	probably damaging	Het
Trim43b	C	T	9: 88,967,661 (GRCm39)	R325H	probably benign	Het
Vmn1r26	C	T	6: 57,985,755 (GRCm39)	A145T	probably benign	Het
Wdfy4	T	C	14: 32,693,531 (GRCm39)		probably null	Het
Wnt5a	C	A	14: 28,244,713 (GRCm39)	T320K	probably damaging	Het
Wrn	AGCAGGTAATACATACCG	AG	8: 33,775,149 (GRCm39)		probably null	Het
Zfp398	T	C	6: 47,842,910 (GRCm39)	S321P	probably benign	Het
Zfp959	T	A	17: 56,205,501 (GRCm39)	C513S	possibly damaging	Het
Zfr2	A	G	10: 81,080,559 (GRCm39)	D411G	probably damaging	Het
Zkscan5	T	A	5: 145,147,988 (GRCm39)		probably benign	Het

Other mutations in Or8g28

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01640:Or8g28	APN	9	39,169,559 (GRCm39)	missense	probably damaging	1.00
IGL01773:Or8g28	APN	9	39,169,830 (GRCm39)	missense	probably damaging	0.96
IGL02869:Or8g28	APN	9	39,169,520 (GRCm39)	nonsense	probably null
IGL03245:Or8g28	APN	9	39,169,294 (GRCm39)	missense	probably damaging	0.99
K3955:Or8g28	UTSW	9	39,169,926 (GRCm39)	missense	probably damaging	1.00
R1710:Or8g28	UTSW	9	39,169,867 (GRCm39)	missense	probably benign	0.07
R1746:Or8g28	UTSW	9	39,169,498 (GRCm39)	missense	probably damaging	1.00
R1820:Or8g28	UTSW	9	39,169,695 (GRCm39)	missense	possibly damaging	0.74
R3410:Or8g28	UTSW	9	39,169,897 (GRCm39)	missense	possibly damaging	0.75
R4091:Or8g28	UTSW	9	39,169,330 (GRCm39)	missense	possibly damaging	0.76
R4625:Or8g28	UTSW	9	39,169,614 (GRCm39)	missense	probably damaging	1.00
R6475:Or8g28	UTSW	9	39,169,378 (GRCm39)	missense	probably benign	0.00
R7500:Or8g28	UTSW	9	39,169,762 (GRCm39)	missense	probably benign	0.03
R7545:Or8g28	UTSW	9	39,169,984 (GRCm39)	critical splice acceptor site	probably null
R7850:Or8g28	UTSW	9	39,169,518 (GRCm39)	missense	possibly damaging	0.94
R8263:Or8g28	UTSW	9	39,169,899 (GRCm39)	missense	probably damaging	1.00
R8477:Or8g28	UTSW	9	39,169,099 (GRCm39)	missense	probably damaging	1.00
R9466:Or8g28	UTSW	9	39,169,491 (GRCm39)	missense	possibly damaging	0.57
R9554:Or8g28	UTSW	9	39,169,756 (GRCm39)	missense	possibly damaging	0.81
R9577:Or8g28	UTSW	9	39,169,737 (GRCm39)	missense	possibly damaging	0.81
Z1088:Or8g28	UTSW	9	39,169,167 (GRCm39)	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- CTTCTCCGTCAGAAAGCTCAC -3'
(R):5'- ATTATATACAGGGCAAAGGAGTCC -3'

Sequencing Primer
(F):5'- GCTCACCAGCATTTTAGGGGTAAC -3'
(R):5'- TATACAGGGCAAAGGAGTCCTATGG -3'

Posted On

2019-05-15