Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02391:Or13p4'

293861

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or13p4

Ensembl Gene

ENSMUSG00000043383

Gene Name

olfactory receptor family 13 subfamily P member 4

Synonyms

GA_x6K02T2QD9B-18856980-18857927, MOR258-3, Olfr1342

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

IGL02391

Quality Score

Status

Chromosome

Chromosomal Location

118546349-118550231 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 118547538 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 37 (L37P)

Ref Sequence

ENSEMBL: ENSMUSP00000149966 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060562] [ENSMUST00000216226]

AlphaFold

Q8VFY3

Predicted Effect

probably damaging
Transcript: ENSMUST00000060562
AA Change: L37P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000053925
Gene: ENSMUSG00000043383
AA Change: L37P

Domain	Start	End	E-Value	Type
low complexity region	10	24	N/A	INTRINSIC
Pfam:7tm_4	34	311	1.5e-55	PFAM
Pfam:7TM_GPCR_Srsx	38	243	1.6e-5	PFAM
Pfam:7tm_1	44	293	4.2e-20	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000216226
AA Change: L37P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	T	A	14: 118,790,764 (GRCm39)	N748Y	probably damaging	Het
Actbl2	A	G	13: 111,391,701 (GRCm39)	D12G	possibly damaging	Het
Adamts10	T	C	17: 33,747,785 (GRCm39)	S74P	probably benign	Het
Adprs	C	T	4: 126,211,701 (GRCm39)		probably benign	Het
Amn1	A	G	6: 149,070,944 (GRCm39)		probably null	Het
Antxr1	A	T	6: 87,264,038 (GRCm39)	I144N	probably damaging	Het
Atp2a3	C	A	11: 72,866,165 (GRCm39)	H262N	probably benign	Het
Cabp5	A	T	7: 13,132,269 (GRCm39)	R13*	probably null	Het
Cacna1e	A	G	1: 154,296,859 (GRCm39)	Y1669H	probably damaging	Het
Ccdc174	A	G	6: 91,875,263 (GRCm39)	E364G	possibly damaging	Het
Ccdc18	C	T	5: 108,283,918 (GRCm39)	P74S	probably damaging	Het
Clec3a	C	T	8: 115,152,240 (GRCm39)	S82L	probably benign	Het
Cnih3	A	G	1: 181,234,078 (GRCm39)	D43G	probably damaging	Het
Dpp10	G	A	1: 123,578,087 (GRCm39)	T128M	probably damaging	Het
Edar	A	T	10: 58,464,403 (GRCm39)	F79I	probably damaging	Het
Eif2ak4	T	A	2: 118,251,272 (GRCm39)	H199Q	probably benign	Het
Fermt1	A	G	2: 132,783,871 (GRCm39)	L46P	probably damaging	Het
Glipr1	A	G	10: 111,824,799 (GRCm39)		probably benign	Het
Gsdmc	T	C	15: 63,675,428 (GRCm39)	N129S	probably damaging	Het
Ift88	T	C	14: 57,718,871 (GRCm39)	S619P	possibly damaging	Het
Itga9	T	A	9: 118,679,873 (GRCm39)	V262E	probably benign	Het
Med17	G	A	9: 15,188,963 (GRCm39)	R101*	probably null	Het
Mta1	T	A	12: 113,100,203 (GRCm39)	I688N	possibly damaging	Het
Muc4	A	T	16: 32,570,894 (GRCm39)	R651S	probably benign	Het
Opcml	A	G	9: 28,586,560 (GRCm39)	I93V	probably damaging	Het
Or12d17	C	T	17: 37,777,477 (GRCm39)	P127S	probably damaging	Het
Or9r7	A	G	10: 129,962,773 (GRCm39)	V51A	possibly damaging	Het
Parg	T	G	14: 31,984,638 (GRCm39)		probably null	Het
Rps3a3	A	G	13: 108,807,417 (GRCm39)		probably benign	Het
Safb	T	A	17: 56,907,813 (GRCm39)		probably benign	Het
Sat2	G	T	11: 69,513,575 (GRCm39)	C54F	probably damaging	Het
Scin	T	A	12: 40,127,530 (GRCm39)	Y420F	probably benign	Het
Slc22a29	A	T	19: 8,146,717 (GRCm39)	S362T	probably benign	Het
Smchd1	T	C	17: 71,738,254 (GRCm39)	D537G	probably null	Het
Spred3	A	G	7: 28,865,830 (GRCm39)	S126P	probably benign	Het
Ssh1	C	T	5: 114,080,578 (GRCm39)	E951K	probably damaging	Het
Ssmem1	A	G	6: 30,512,441 (GRCm39)	E28G	possibly damaging	Het
Stox1	A	T	10: 62,495,455 (GRCm39)		probably benign	Het
Syn3	T	C	10: 85,900,770 (GRCm39)	I373V	probably benign	Het
Tecrl	A	T	5: 83,502,674 (GRCm39)	F58L	probably benign	Het
Trp53bp1	T	C	2: 121,033,191 (GRCm39)	N1655S	possibly damaging	Het
Usp2	G	T	9: 44,002,524 (GRCm39)	Q147H	probably damaging	Het
Usp24	T	A	4: 106,264,326 (GRCm39)	N1751K	possibly damaging	Het
Wipf1	T	A	2: 73,264,487 (GRCm39)	D438V	probably damaging	Het

Other mutations in Or13p4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01823:Or13p4	APN	4	118,546,918 (GRCm39)	missense	probably damaging	1.00
R0648:Or13p4	UTSW	4	118,547,269 (GRCm39)	missense	probably benign
R1565:Or13p4	UTSW	4	118,547,389 (GRCm39)	missense	probably damaging	1.00
R1675:Or13p4	UTSW	4	118,547,145 (GRCm39)	missense	probably benign	0.00
R1823:Or13p4	UTSW	4	118,547,389 (GRCm39)	missense	probably damaging	1.00
R2343:Or13p4	UTSW	4	118,547,384 (GRCm39)	missense	probably benign	0.30
R4618:Or13p4	UTSW	4	118,546,667 (GRCm39)	utr 3 prime	probably benign
R4941:Or13p4	UTSW	4	118,547,089 (GRCm39)	missense	possibly damaging	0.76
R5408:Or13p4	UTSW	4	118,547,641 (GRCm39)	missense	probably benign	0.00
R5587:Or13p4	UTSW	4	118,547,067 (GRCm39)	missense	probably damaging	1.00
R5895:Or13p4	UTSW	4	118,547,314 (GRCm39)	missense	probably damaging	0.97
R6023:Or13p4	UTSW	4	118,547,271 (GRCm39)	missense	probably damaging	1.00
R6307:Or13p4	UTSW	4	118,547,145 (GRCm39)	missense	probably benign	0.00
R6324:Or13p4	UTSW	4	118,547,728 (GRCm39)	start gained	probably benign
R6890:Or13p4	UTSW	4	118,546,728 (GRCm39)	missense	possibly damaging	0.72
R7218:Or13p4	UTSW	4	118,547,215 (GRCm39)	missense	probably benign
R7408:Or13p4	UTSW	4	118,546,859 (GRCm39)	missense	probably damaging	0.98
R7555:Or13p4	UTSW	4	118,546,839 (GRCm39)	missense	possibly damaging	0.94
R7749:Or13p4	UTSW	4	118,547,425 (GRCm39)	missense	probably damaging	1.00
R8098:Or13p4	UTSW	4	118,547,406 (GRCm39)	missense	possibly damaging	0.88
R8493:Or13p4	UTSW	4	118,547,229 (GRCm39)	missense	probably benign	0.01
R9445:Or13p4	UTSW	4	118,547,416 (GRCm39)	missense	probably damaging	0.98
R9500:Or13p4	UTSW	4	118,546,930 (GRCm39)	missense	possibly damaging	0.91
Z1176:Or13p4	UTSW	4	118,547,469 (GRCm39)	missense	probably benign	0.31

Posted On

2015-04-16