Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02016:Or8k28'

183743

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or8k28

Ensembl Gene

ENSMUSG00000075181

Gene Name

olfactory receptor family 8 subfamily K member 28

Synonyms

Olfr1066, MOR188-8, MOR256-52P, GA_x6K02T2Q125-47925557-47924616

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

IGL02016

Quality Score

Status

Chromosome

Chromosomal Location

86285672-86286613 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 86285841 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 258 (M258K)

Ref Sequence

ENSEMBL: ENSMUSP00000097470 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099885] [ENSMUST00000213789] [ENSMUST00000216162] [ENSMUST00000217586]

AlphaFold

A2AK62

Predicted Effect

probably damaging
Transcript: ENSMUST00000099885
AA Change: M258K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000097470
Gene: ENSMUSG00000075181
AA Change: M258K

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	1.1e-50	PFAM
Pfam:7TM_GPCR_Srsx	35	172	1.9e-6	PFAM
Pfam:7tm_1	41	290	1.3e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213789

Predicted Effect

probably benign
Transcript: ENSMUST00000216162

Predicted Effect

probably benign
Transcript: ENSMUST00000217586

Coding Region Coverage

Validation Efficiency

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810024B03Rik	C	A	2: 127,028,875 (GRCm39)	G108V	probably damaging	Het
A2ml1	T	C	6: 128,535,298 (GRCm39)	E804G	probably damaging	Het
Abcg4	G	A	9: 44,198,647 (GRCm39)	T35M	probably damaging	Het
Acad9	A	T	3: 36,142,635 (GRCm39)		probably null	Het
Adgrv1	T	C	13: 81,545,572 (GRCm39)	D5571G	probably damaging	Het
App	T	A	16: 84,853,409 (GRCm39)	D223V	unknown	Het
Arhgap30	A	G	1: 171,235,315 (GRCm39)	E563G	probably damaging	Het
Atp6v1e2	A	T	17: 87,251,822 (GRCm39)	V192D	probably damaging	Het
Atr	G	A	9: 95,809,228 (GRCm39)	V1969I	probably benign	Het
Bean1	T	C	8: 104,937,550 (GRCm39)	L43S	possibly damaging	Het
Cand1	A	G	10: 119,048,473 (GRCm39)	V436A	probably damaging	Het
Card6	T	C	15: 5,137,738 (GRCm39)	I39V	probably damaging	Het
Ccdc73	A	G	2: 104,805,961 (GRCm39)	T300A	probably benign	Het
Ccdc88c	T	C	12: 100,907,466 (GRCm39)	T962A	possibly damaging	Het
Chd6	G	T	2: 160,825,598 (GRCm39)	L1169I	probably damaging	Het
Chrna7	A	T	7: 62,753,583 (GRCm39)	V312E	probably damaging	Het
Dna2	A	G	10: 62,796,191 (GRCm39)	N540S	probably benign	Het
Elavl2	T	C	4: 91,149,172 (GRCm39)	E209G	probably damaging	Het
Elmo2	A	G	2: 165,136,932 (GRCm39)		probably null	Het
Fto	A	T	8: 92,393,034 (GRCm39)	R494*	probably null	Het
Garre1	A	G	7: 33,938,526 (GRCm39)	M791T	possibly damaging	Het
Gm9966	A	T	7: 95,608,014 (GRCm39)	T112S	unknown	Het
Gtf3c1	A	C	7: 125,267,211 (GRCm39)	I940S	probably damaging	Het
Hecw2	C	A	1: 53,870,702 (GRCm39)	Q1426H	possibly damaging	Het
Iars2	A	C	1: 185,035,503 (GRCm39)	L579R	probably damaging	Het
Ifih1	A	C	2: 62,437,328 (GRCm39)	M537R	probably benign	Het
Kcnmb4	A	G	10: 116,282,367 (GRCm39)		probably benign	Het
Large2	A	G	2: 92,199,888 (GRCm39)	V175A	possibly damaging	Het
Mad2l1bp	A	G	17: 46,464,428 (GRCm39)		probably benign	Het
Muc20	A	T	16: 32,617,722 (GRCm39)	F14Y	possibly damaging	Het
Myom2	A	G	8: 15,175,195 (GRCm39)	E1258G	probably benign	Het
Parp1	A	T	1: 180,426,516 (GRCm39)		probably null	Het
Pramel22	T	A	4: 143,381,889 (GRCm39)	E269V	possibly damaging	Het
Prkra	A	T	2: 76,473,653 (GRCm39)		probably null	Het
Ror2	C	T	13: 53,264,764 (GRCm39)	S764N	probably damaging	Het
Scd1	C	T	19: 44,388,746 (GRCm39)	G235S	probably benign	Het
Sdk1	A	G	5: 142,020,184 (GRCm39)	H654R	possibly damaging	Het
Sesn3	A	G	9: 14,231,633 (GRCm39)	Y188C	probably damaging	Het
Slc26a4	T	C	12: 31,585,666 (GRCm39)	M461V	probably damaging	Het
Slc28a2	A	G	2: 122,285,822 (GRCm39)	I439V	probably benign	Het
Smc5	T	A	19: 23,251,076 (GRCm39)	N36I	probably benign	Het
Smurf2	A	G	11: 106,713,504 (GRCm39)	F745S	probably damaging	Het
Spata22	A	G	11: 73,226,857 (GRCm39)	N65S	possibly damaging	Het
Tanc1	A	G	2: 59,673,934 (GRCm39)	T1680A	probably benign	Het
Tnxb	G	A	17: 34,891,249 (GRCm39)	V531M	probably damaging	Het
Trpm3	T	G	19: 22,879,433 (GRCm39)	Y727*	probably null	Het
Tssk1	A	T	16: 17,712,758 (GRCm39)	Y181F	probably damaging	Het
Ucp3	T	A	7: 100,129,766 (GRCm39)	V136E	probably damaging	Het
Uqcrfs1	A	C	13: 30,729,097 (GRCm39)	V45G	probably benign	Het
Uvrag	A	G	7: 98,748,649 (GRCm39)	I101T	probably benign	Het
Vmn1r206	A	T	13: 22,804,334 (GRCm39)	L291Q	probably damaging	Het
Wnk2	T	A	13: 49,210,381 (GRCm39)	I1813F	probably damaging	Het
Zbtb3	T	A	19: 8,780,579 (GRCm39)	V64E	probably damaging	Het
Zeb2	A	G	2: 44,878,886 (GRCm39)	I1115T	possibly damaging	Het
Zfp280b	C	T	10: 75,874,945 (GRCm39)	L275F	possibly damaging	Het

Other mutations in Or8k28

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01661:Or8k28	APN	2	86,285,846 (GRCm39)	missense	possibly damaging	0.92
IGL01668:Or8k28	APN	2	86,285,746 (GRCm39)	missense	probably damaging	1.00
R0396:Or8k28	UTSW	2	86,286,363 (GRCm39)	missense	possibly damaging	0.54
R0980:Or8k28	UTSW	2	86,285,704 (GRCm39)	missense	probably benign	0.01
R0987:Or8k28	UTSW	2	86,285,891 (GRCm39)	nonsense	probably null
R1169:Or8k28	UTSW	2	86,285,931 (GRCm39)	missense	possibly damaging	0.85
R2001:Or8k28	UTSW	2	86,285,817 (GRCm39)	missense	probably benign	0.45
R2002:Or8k28	UTSW	2	86,285,817 (GRCm39)	missense	probably benign	0.45
R2265:Or8k28	UTSW	2	86,286,558 (GRCm39)	missense	possibly damaging	0.77
R3811:Or8k28	UTSW	2	86,285,691 (GRCm39)	missense	probably benign	0.21
R4579:Or8k28	UTSW	2	86,285,859 (GRCm39)	missense	probably damaging	0.99
R4726:Or8k28	UTSW	2	86,286,580 (GRCm39)	missense	possibly damaging	0.90
R4768:Or8k28	UTSW	2	86,285,994 (GRCm39)	nonsense	probably null
R4871:Or8k28	UTSW	2	86,286,153 (GRCm39)	missense	possibly damaging	0.95
R5304:Or8k28	UTSW	2	86,285,779 (GRCm39)	missense	probably damaging	1.00
R6037:Or8k28	UTSW	2	86,286,133 (GRCm39)	missense	probably benign	0.14
R6037:Or8k28	UTSW	2	86,286,133 (GRCm39)	missense	probably benign	0.14
R7080:Or8k28	UTSW	2	86,285,835 (GRCm39)	nonsense	probably null
R7223:Or8k28	UTSW	2	86,286,211 (GRCm39)	missense	possibly damaging	0.78
R7378:Or8k28	UTSW	2	86,286,412 (GRCm39)	missense	probably benign	0.10
R7465:Or8k28	UTSW	2	86,286,150 (GRCm39)	missense	probably benign	0.07
R7598:Or8k28	UTSW	2	86,286,234 (GRCm39)	missense	probably damaging	0.98
R8524:Or8k28	UTSW	2	86,285,961 (GRCm39)	missense	probably damaging	1.00
R8703:Or8k28	UTSW	2	86,286,244 (GRCm39)	missense	possibly damaging	0.95
R8818:Or8k28	UTSW	2	86,286,078 (GRCm39)	missense	probably damaging	1.00
R8954:Or8k28	UTSW	2	86,285,892 (GRCm39)	missense	probably damaging	1.00
R9396:Or8k28	UTSW	2	86,285,845 (GRCm39)	missense	probably benign	0.00
X0025:Or8k28	UTSW	2	86,286,213 (GRCm39)	missense	probably benign	0.16

Posted On

2014-05-07