Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02008:Or8k39'

183241

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or8k39

Ensembl Gene

ENSMUSG00000111711

Gene Name

olfactory receptor family 8 subfamily K member 39

Synonyms

Olfr1089, MOR193-1, GA_x6K02T2Q125-48226321-48225386

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.224) question?

Stock #

IGL02008

Quality Score

Status

Chromosome

Chromosomal Location

86563019-86563954 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 86563521 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Arginine at position 145 (I145R)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000214317]

AlphaFold

A0A1L1SRK6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099876
AA Change: I145R

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000097461
Gene: ENSMUSG00000075173
AA Change: I145R

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	310	4.7e-47	PFAM
Pfam:7tm_1	41	290	2e-20	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214317
AA Change: I145R

PolyPhen 2 Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 121,969,750 (GRCm39)	T2252A	probably benign	Het
Abcc2	C	T	19: 43,810,189 (GRCm39)		probably benign	Het
Abcf1	T	C	17: 36,272,954 (GRCm39)	E231G	probably benign	Het
Astn2	T	C	4: 65,977,390 (GRCm39)	Y379C	probably damaging	Het
Atp8b1	G	T	18: 64,671,766 (GRCm39)		probably benign	Het
Atr	T	A	9: 95,763,473 (GRCm39)		probably benign	Het
Bdp1	A	G	13: 100,160,335 (GRCm39)	S2349P	possibly damaging	Het
Bmp2	T	C	2: 133,402,886 (GRCm39)	S146P	probably damaging	Het
Cacna1c	T	C	6: 118,692,885 (GRCm39)	S218G	probably null	Het
Cand2	T	C	6: 115,780,599 (GRCm39)	V1161A	probably damaging	Het
Clec16a	T	C	16: 10,398,824 (GRCm39)	V330A	probably damaging	Het
Cpsf1	A	T	15: 76,487,291 (GRCm39)	V161D	probably damaging	Het
Ctsh	A	G	9: 89,943,600 (GRCm39)	Y75C	probably damaging	Het
Cyp26c1	C	A	19: 37,677,371 (GRCm39)	L267M	probably damaging	Het
Cyp26c1	T	A	19: 37,677,372 (GRCm39)	L267Q	probably damaging	Het
Cyp2c50	G	A	19: 40,079,543 (GRCm39)	W212*	probably null	Het
Dnah5	T	A	15: 28,343,698 (GRCm39)	M2366K	probably damaging	Het
Ermp1	A	G	19: 29,590,320 (GRCm39)	M794T	probably damaging	Het
F11	G	T	8: 45,703,132 (GRCm39)	S186Y	probably damaging	Het
Fam184b	A	T	5: 45,690,165 (GRCm39)	F815I	possibly damaging	Het
Fezf2	T	C	14: 12,343,705 (GRCm38)	I347V	probably benign	Het
Fip1l1	C	T	5: 74,706,084 (GRCm39)	T114I	possibly damaging	Het
Gbp7	A	C	3: 142,252,211 (GRCm39)	D598A	probably benign	Het
Gm1110	T	A	9: 26,794,526 (GRCm39)	D500V	probably benign	Het
Gm3248	T	A	14: 5,943,928 (GRCm38)	M99L	probably benign	Het
Gpi-ps	A	T	8: 5,689,896 (GRCm39)		noncoding transcript	Het
Hspa9	G	A	18: 35,081,028 (GRCm39)	R218*	probably null	Het
Ikbip	G	A	10: 90,929,119 (GRCm39)		probably null	Het
Kcnb2	C	T	1: 15,781,033 (GRCm39)	T635M	probably benign	Het
Krtap29-1	T	A	11: 99,869,105 (GRCm39)	I259F	possibly damaging	Het
Lnpep	T	C	17: 17,791,219 (GRCm39)	T442A	probably benign	Het
Mgat1	T	A	11: 49,151,562 (GRCm39)	I15N	probably damaging	Het
Nlrp9c	A	T	7: 26,084,576 (GRCm39)	S334R	probably benign	Het
Notch2	A	T	3: 98,054,612 (GRCm39)	D2425V	probably damaging	Het
Ntn1	C	T	11: 68,104,089 (GRCm39)	V520M	probably damaging	Het
Or10d1b	A	G	9: 39,613,549 (GRCm39)	V172A	probably damaging	Het
Or4p18	T	A	2: 88,232,421 (GRCm39)	T286S	possibly damaging	Het
Or5d39	A	T	2: 87,979,922 (GRCm39)	V147E	probably damaging	Het
Or6c3b	T	A	10: 129,527,887 (GRCm39)	T8S	probably benign	Het
Or8g55	A	T	9: 39,784,781 (GRCm39)	D70V	probably damaging	Het
Osr2	A	G	15: 35,302,138 (GRCm39)	H246R	probably damaging	Het
Papolg	T	C	11: 23,829,898 (GRCm39)	R224G	probably damaging	Het
Pax6	T	A	2: 105,522,623 (GRCm39)		probably null	Het
Pcyox1	A	G	6: 86,369,250 (GRCm39)	V192A	probably benign	Het
Phf1	C	T	17: 27,154,260 (GRCm39)	A159V	possibly damaging	Het
Ppfia4	G	A	1: 134,260,129 (GRCm39)	R45W	probably damaging	Het
Psmb9	T	A	17: 34,402,653 (GRCm39)	K109M	probably damaging	Het
Ptprt	T	A	2: 161,769,593 (GRCm39)	Y424F	probably benign	Het
Ptrh2	A	G	11: 86,580,592 (GRCm39)	I70V	probably benign	Het
Rnf213	G	A	11: 119,309,135 (GRCm39)		probably benign	Het
Rom1	T	A	19: 8,905,368 (GRCm39)	I271F	probably benign	Het
Satb2	T	A	1: 56,835,952 (GRCm39)	D731V	possibly damaging	Het
Serpinb7	G	T	1: 107,375,859 (GRCm39)	G159V	possibly damaging	Het
Slit1	T	C	19: 41,634,579 (GRCm39)	I393V	probably damaging	Het
Spata20	T	A	11: 94,374,289 (GRCm39)	D327V	probably damaging	Het
Spata31e3	G	A	13: 50,400,721 (GRCm39)	P535L	probably benign	Het
Spmap2l	A	T	5: 77,208,605 (GRCm39)	I378L	probably benign	Het
Tbc1d32	G	T	10: 56,027,871 (GRCm39)	Q744K	possibly damaging	Het
Tmem108	G	T	9: 103,366,439 (GRCm39)	N517K	possibly damaging	Het
Trp63	T	A	16: 25,681,211 (GRCm39)	N160K	probably damaging	Het
Ttll5	T	C	12: 85,980,385 (GRCm39)	S119P	probably damaging	Het
Ubqln3	T	A	7: 103,791,523 (GRCm39)	Q189L	probably damaging	Het
Vwa5a	G	A	9: 38,649,072 (GRCm39)	R638H	probably benign	Het
Wdr3	A	G	3: 100,058,298 (GRCm39)	S436P	probably damaging	Het
Zfp975	A	T	7: 42,312,215 (GRCm39)	C133S	probably damaging	Het
Zfp976	A	T	7: 42,263,656 (GRCm39)		probably benign	Het
Zmiz1	A	G	14: 25,657,303 (GRCm39)	M860V	probably damaging	Het
Zscan4d	T	C	7: 10,896,296 (GRCm39)	E358G	probably benign	Het

Other mutations in Or8k39

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00332:Or8k39	APN	2	86,563,579 (GRCm39)	missense	possibly damaging	0.90
IGL00944:Or8k39	APN	2	86,563,905 (GRCm39)	missense	possibly damaging	0.80
IGL01478:Or8k39	APN	2	86,563,673 (GRCm39)	nonsense	probably null
IGL01636:Or8k39	APN	2	86,563,945 (GRCm39)	nonsense	probably null
IGL01887:Or8k39	APN	2	86,563,030 (GRCm39)	missense	probably benign	0.03
IGL02470:Or8k39	APN	2	86,563,929 (GRCm39)	missense	probably damaging	0.97
IGL02560:Or8k39	APN	2	86,563,578 (GRCm39)	missense	probably damaging	1.00
R1782:Or8k39	UTSW	2	86,563,026 (GRCm39)	missense	probably benign	0.03
R2234:Or8k39	UTSW	2	86,563,921 (GRCm39)	missense	possibly damaging	0.94
R2866:Or8k39	UTSW	2	86,563,773 (GRCm39)	missense	possibly damaging	0.95
R3027:Or8k39	UTSW	2	86,563,930 (GRCm39)	missense	possibly damaging	0.79
R4275:Or8k39	UTSW	2	86,563,936 (GRCm39)	missense	probably damaging	1.00
R4799:Or8k39	UTSW	2	86,563,018 (GRCm39)	splice site	probably null
R5016:Or8k39	UTSW	2	86,563,090 (GRCm39)	missense	probably benign	0.17
R5154:Or8k39	UTSW	2	86,563,121 (GRCm39)	nonsense	probably null
R5355:Or8k39	UTSW	2	86,563,680 (GRCm39)	missense	probably damaging	1.00
R5624:Or8k39	UTSW	2	86,563,149 (GRCm39)	missense	probably benign	0.45
R6265:Or8k39	UTSW	2	86,563,299 (GRCm39)	missense	probably damaging	0.99
R7382:Or8k39	UTSW	2	86,563,129 (GRCm39)	missense	probably benign	0.02
R8009:Or8k39	UTSW	2	86,563,848 (GRCm39)	missense	probably damaging	0.99
R8850:Or8k39	UTSW	2	86,563,302 (GRCm39)	missense	probably damaging	0.99
R9652:Or8k39	UTSW	2	86,563,636 (GRCm39)	missense	probably damaging	1.00
X0028:Or8k39	UTSW	2	86,563,092 (GRCm39)	missense	probably damaging	0.99

Posted On

2014-05-07