Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02951:Or4k42'

365989

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or4k42

Ensembl Gene

ENSMUSG00000095809

Gene Name

olfactory receptor family 4 subfamily K member 42

Synonyms

Olfr1290, MOR248-9, GA_x6K02T2Q125-72541649-72540711

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.098) question?

Stock #

IGL02951

Quality Score

Status

Chromosome

Chromosomal Location

111319563-111324160 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 111320465 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 13 (I13L)

Ref Sequence

ENSEMBL: ENSMUSP00000150388 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099616] [ENSMUST00000208695] [ENSMUST00000208881] [ENSMUST00000217611]

AlphaFold

Q7TQX8

Predicted Effect

probably benign
Transcript: ENSMUST00000099616
AA Change: I13L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000097211
Gene: ENSMUSG00000095809
AA Change: I13L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	305	3.5e-52	PFAM
Pfam:7tm_1	41	287	1e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207707
AA Change: I13L

Predicted Effect

probably benign
Transcript: ENSMUST00000208695
AA Change: I13L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Predicted Effect

probably benign
Transcript: ENSMUST00000208881
AA Change: I13L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000217611
AA Change: I13L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610028H24Rik	C	A	10: 76,290,536 (GRCm39)		probably benign	Het
Acot10	G	A	15: 20,665,868 (GRCm39)	T291I	probably benign	Het
Adam34l	T	G	8: 44,080,125 (GRCm39)	H33P	possibly damaging	Het
Atp13a3	A	G	16: 30,157,439 (GRCm39)		probably null	Het
Atp2a1	C	T	7: 126,049,399 (GRCm39)	V548M	possibly damaging	Het
Bsn	G	A	9: 107,992,812 (GRCm39)	S980L	probably damaging	Het
Ccdc158	A	G	5: 92,797,865 (GRCm39)	M425T	probably damaging	Het
Cdh23	A	G	10: 60,147,143 (GRCm39)	L2733S	probably damaging	Het
Chd3	C	T	11: 69,251,874 (GRCm39)		probably null	Het
Cimap1d	T	C	10: 79,475,811 (GRCm39)	N251S	probably benign	Het
Dock2	T	C	11: 34,260,448 (GRCm39)		probably benign	Het
Elfn2	T	C	15: 78,556,082 (GRCm39)	K822E	probably damaging	Het
Eps15l1	G	A	8: 73,112,240 (GRCm39)	S764L	probably benign	Het
Etl4	C	A	2: 20,806,348 (GRCm39)		probably benign	Het
Faap24	C	A	7: 35,092,376 (GRCm39)	K180N	probably damaging	Het
Fhod1	G	A	8: 106,057,862 (GRCm39)	R888W	probably damaging	Het
Fus	T	C	7: 127,581,009 (GRCm39)		probably benign	Het
Gm3453	T	C	14: 5,976,168 (GRCm38)	E201G	possibly damaging	Het
Gnpat	G	T	8: 125,597,644 (GRCm39)	D69Y	probably benign	Het
Gpaa1	T	A	15: 76,217,019 (GRCm39)		probably benign	Het
Gsta1	A	T	9: 78,149,819 (GRCm39)	K211*	probably null	Het
Lct	G	T	1: 128,227,948 (GRCm39)	Q1182K	probably damaging	Het
Mroh1	T	C	15: 76,311,836 (GRCm39)	L523P	probably damaging	Het
Mrpl46	A	G	7: 78,425,200 (GRCm39)		probably benign	Het
Mst1r	G	T	9: 107,785,403 (GRCm39)	V354F	possibly damaging	Het
Myo15b	A	G	11: 115,772,127 (GRCm39)	D299G	probably damaging	Het
Myo6	G	A	9: 80,171,516 (GRCm39)	V506I	possibly damaging	Het
Nadk	A	C	4: 155,671,933 (GRCm39)	K271Q	probably benign	Het
Nbas	A	G	12: 13,412,542 (GRCm39)	R954G	probably benign	Het
Nbr1	T	A	11: 101,462,805 (GRCm39)		probably null	Het
Nup88	T	C	11: 70,835,698 (GRCm39)	D587G	possibly damaging	Het
Oas1a	A	T	5: 121,043,727 (GRCm39)	F135Y	probably damaging	Het
Obscn	A	G	11: 58,885,339 (GRCm39)		probably benign	Het
Parp14	G	A	16: 35,678,903 (GRCm39)	T355I	probably benign	Het
Pdgfd	G	T	9: 6,288,494 (GRCm39)	L43F	probably damaging	Het
Pou5f2	T	C	13: 78,173,237 (GRCm39)	S60P	probably benign	Het
Prp2	A	G	6: 132,576,788 (GRCm39)	N25S	unknown	Het
Ptprq	A	T	10: 107,503,321 (GRCm39)	F779Y	probably benign	Het
Rims2	C	T	15: 39,398,334 (GRCm39)	R1078C	probably damaging	Het
Rnf38	G	T	4: 44,129,619 (GRCm39)	S425*	probably null	Het
Rps21	T	A	2: 179,899,840 (GRCm39)	I59N	probably damaging	Het
Scn5a	A	T	9: 119,324,751 (GRCm39)	F1359Y	probably damaging	Het
Slc35b2	A	G	17: 45,875,694 (GRCm39)	E67G	probably damaging	Het
Slc37a2	A	G	9: 37,166,611 (GRCm39)	F15L	probably benign	Het
Snapc4	A	C	2: 26,260,847 (GRCm39)	N465K	probably benign	Het
Spata31f1a	C	T	4: 42,850,696 (GRCm39)	E487K	probably benign	Het
Stxbp2	A	T	8: 3,691,971 (GRCm39)	I538F	probably benign	Het
Taco1	A	G	11: 105,960,353 (GRCm39)	N98S	probably benign	Het
Tcea3	T	C	4: 135,985,299 (GRCm39)		probably null	Het
Thada	T	C	17: 84,751,456 (GRCm39)	S507G	probably benign	Het
Tmem132b	T	A	5: 125,864,611 (GRCm39)	C906S	probably damaging	Het
Trpm2	A	T	10: 77,765,112 (GRCm39)	I963N	possibly damaging	Het
Usp10	A	G	8: 120,673,825 (GRCm39)	T397A	probably benign	Het
Usp3	G	A	9: 66,449,832 (GRCm39)	R160*	probably null	Het
Utp15	T	C	13: 98,394,460 (GRCm39)	Y144C	probably damaging	Het
Xpc	G	A	6: 91,483,831 (GRCm39)	R172W	probably damaging	Het

Other mutations in Or4k42

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00958:Or4k42	APN	2	111,319,565 (GRCm39)	makesense	probably null
IGL01418:Or4k42	APN	2	111,319,984 (GRCm39)	missense	probably benign	0.37
IGL02288:Or4k42	APN	2	111,320,065 (GRCm39)	missense	probably benign	0.09
IGL02507:Or4k42	APN	2	111,319,768 (GRCm39)	missense	possibly damaging	0.87
IGL02508:Or4k42	APN	2	111,320,180 (GRCm39)	missense	probably damaging	1.00
IGL03357:Or4k42	APN	2	111,320,289 (GRCm39)	missense	probably benign	0.01
R1101:Or4k42	UTSW	2	111,319,787 (GRCm39)	missense	probably damaging	1.00
R2256:Or4k42	UTSW	2	111,320,323 (GRCm39)	missense	probably damaging	1.00
R2420:Or4k42	UTSW	2	111,319,602 (GRCm39)	splice site	probably null
R4672:Or4k42	UTSW	2	111,319,902 (GRCm39)	missense	possibly damaging	0.66
R4715:Or4k42	UTSW	2	111,320,089 (GRCm39)	missense	probably benign
R4855:Or4k42	UTSW	2	111,320,293 (GRCm39)	missense	probably damaging	1.00
R6011:Or4k42	UTSW	2	111,320,192 (GRCm39)	missense	probably benign	0.03
R6141:Or4k42	UTSW	2	111,320,464 (GRCm39)	missense	probably benign	0.34
R6156:Or4k42	UTSW	2	111,320,095 (GRCm39)	missense	probably damaging	1.00
R6702:Or4k42	UTSW	2	111,320,454 (GRCm39)	splice site	probably null
R6703:Or4k42	UTSW	2	111,320,454 (GRCm39)	splice site	probably null
R7413:Or4k42	UTSW	2	111,319,933 (GRCm39)	missense	probably benign	0.18
R7861:Or4k42	UTSW	2	111,320,369 (GRCm39)	missense	probably damaging	0.99
R8007:Or4k42	UTSW	2	111,320,068 (GRCm39)	missense	probably damaging	1.00
R8914:Or4k42	UTSW	2	111,320,004 (GRCm39)	missense	probably damaging	1.00
R8947:Or4k42	UTSW	2	111,320,042 (GRCm39)	missense	probably benign	0.02
R9003:Or4k42	UTSW	2	111,320,411 (GRCm39)	missense	probably benign	0.11
R9396:Or4k42	UTSW	2	111,319,864 (GRCm39)	missense	probably benign	0.22
Z1176:Or4k42	UTSW	2	111,320,222 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-12-18