Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02427:Or1e19'

292928

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or1e19

Ensembl Gene

ENSMUSG00000055971

Gene Name

olfactory receptor family 1 subfamily E member 19

Synonyms

MOR135-2, GA_x6K02T2P1NL-3586282-3585338, Olfr378

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.267) question?

Stock #

IGL02427

Quality Score

Status

Chromosome

Chromosomal Location

73315863-73319303 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 73316487 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 107 (F107L)

Ref Sequence

ENSEMBL: ENSMUSP00000066971 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069790]

AlphaFold

Q8VGT2

Predicted Effect

probably damaging
Transcript: ENSMUST00000069790
AA Change: F107L

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

SMART Domains

Protein: ENSMUSP00000066971
Gene: ENSMUSG00000055971
AA Change: F107L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	4.3e-55	PFAM
Pfam:7TM_GPCR_Srsx	35	297	7.9e-6	PFAM
Pfam:7tm_1	41	290	3.8e-25	PFAM

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	C	T	5: 99,381,829 (GRCm39)	G311D	probably damaging	Het
Ablim1	A	T	19: 57,068,312 (GRCm39)		probably benign	Het
Adgrg2	T	C	X: 159,274,400 (GRCm39)	F863S	probably damaging	Het
B3galt2	A	T	1: 143,522,254 (GRCm39)	H130L	probably benign	Het
Bbs2	G	A	8: 94,807,746 (GRCm39)	P378S	possibly damaging	Het
Ccdc154	A	T	17: 25,390,731 (GRCm39)		probably null	Het
Ccdc88c	C	T	12: 100,887,851 (GRCm39)	C1543Y	probably damaging	Het
Cdcp3	T	A	7: 130,846,517 (GRCm39)	V647E	probably damaging	Het
Cfap77	A	T	2: 28,845,592 (GRCm39)	C258*	probably null	Het
Cpsf4l	T	G	11: 113,600,324 (GRCm39)		probably benign	Het
Csrnp3	G	A	2: 65,708,380 (GRCm39)		probably benign	Het
Cul9	G	A	17: 46,813,558 (GRCm39)	T2305I	possibly damaging	Het
Cwf19l1	G	A	19: 44,121,462 (GRCm39)	Q29*	probably null	Het
Cwf19l2	G	T	9: 3,456,817 (GRCm39)	V717L	probably benign	Het
Cyp1a1	A	G	9: 57,607,858 (GRCm39)	Y162C	probably damaging	Het
Dlg5	T	C	14: 24,216,275 (GRCm39)	D589G	probably damaging	Het
Dmbt1	G	T	7: 130,689,815 (GRCm39)		probably null	Het
Dtna	T	C	18: 23,784,595 (GRCm39)	Y705H	possibly damaging	Het
Fancd2	T	A	6: 113,526,313 (GRCm39)		probably null	Het
Frem2	T	A	3: 53,443,184 (GRCm39)	N2527Y	probably damaging	Het
Gm7694	T	C	1: 170,130,113 (GRCm39)	D95G	probably benign	Het
Haus5	T	C	7: 30,361,196 (GRCm39)	T115A	probably benign	Het
Kdm3a	A	T	6: 71,569,184 (GRCm39)		probably benign	Het
Klra6	T	C	6: 129,993,680 (GRCm39)	D197G	possibly damaging	Het
Lap3	T	C	5: 45,668,475 (GRCm39)	V429A	probably damaging	Het
Mroh2b	G	T	15: 4,981,042 (GRCm39)		probably benign	Het
Myh9	T	A	15: 77,660,004 (GRCm39)	Q88L	probably damaging	Het
Myo5a	T	C	9: 75,083,900 (GRCm39)		probably benign	Het
Negr1	C	T	3: 156,267,827 (GRCm39)		probably benign	Het
Niban1	A	T	1: 151,593,025 (GRCm39)	D570V	probably damaging	Het
Nlrp9b	T	G	7: 19,776,426 (GRCm39)	C337W	probably damaging	Het
Obscn	A	T	11: 58,957,988 (GRCm39)	C3780S	probably damaging	Het
Piwil2	T	A	14: 70,635,583 (GRCm39)		probably benign	Het
Ppp6r3	T	C	19: 3,516,580 (GRCm39)	S213G	probably null	Het
Pxdn	T	A	12: 30,034,531 (GRCm39)	C39S	probably damaging	Het
Raf1	T	C	6: 115,608,288 (GRCm39)	N241S	probably benign	Het
Rapgef3	A	T	15: 97,645,017 (GRCm39)		probably null	Het
Rhox2h	C	T	X: 36,854,526 (GRCm39)	G72D	probably benign	Het
Sbf1	T	C	15: 89,190,188 (GRCm39)		probably benign	Het
Sema5a	T	C	15: 32,673,690 (GRCm39)		probably benign	Het
Setbp1	T	C	18: 78,900,688 (GRCm39)	D993G	probably damaging	Het
Slc5a4b	A	T	10: 75,894,713 (GRCm39)	C598S	possibly damaging	Het
Sorl1	T	C	9: 41,952,986 (GRCm39)	D685G	probably damaging	Het
Sulf2	C	T	2: 165,931,218 (GRCm39)	R263H	probably damaging	Het
Tbx22	C	A	X: 106,724,777 (GRCm39)	P17T	probably damaging	Het
Tspoap1	A	T	11: 87,653,341 (GRCm39)	T136S	probably benign	Het
Tyw5	T	C	1: 57,427,884 (GRCm39)	E240G	possibly damaging	Het
Umodl1	C	T	17: 31,187,415 (GRCm39)		probably benign	Het
Vmn1r60	T	C	7: 5,547,780 (GRCm39)	T107A	probably damaging	Het
Zbbx	T	C	3: 75,046,905 (GRCm39)	T121A	probably benign	Het
Zbtb11	A	G	16: 55,802,713 (GRCm39)	D241G	possibly damaging	Het
Zfp445	T	C	9: 122,681,295 (GRCm39)	H882R	probably benign	Het
Zscan30	T	C	18: 24,104,533 (GRCm39)		noncoding transcript	Het

Other mutations in Or1e19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01996:Or1e19	APN	11	73,316,794 (GRCm39)	missense	probably damaging	1.00
IGL03089:Or1e19	APN	11	73,316,009 (GRCm39)	missense	probably benign
R0443:Or1e19	UTSW	11	73,316,581 (GRCm39)	missense	probably damaging	1.00
R1497:Or1e19	UTSW	11	73,316,653 (GRCm39)	missense	possibly damaging	0.88
R2005:Or1e19	UTSW	11	73,316,065 (GRCm39)	missense	probably damaging	1.00
R2029:Or1e19	UTSW	11	73,316,188 (GRCm39)	missense	probably benign	0.00
R2140:Or1e19	UTSW	11	73,316,707 (GRCm39)	missense	probably damaging	0.98
R3551:Or1e19	UTSW	11	73,316,678 (GRCm39)	missense	probably benign	0.00
R3552:Or1e19	UTSW	11	73,316,678 (GRCm39)	missense	probably benign	0.00
R4433:Or1e19	UTSW	11	73,316,537 (GRCm39)	missense	possibly damaging	0.50
R4546:Or1e19	UTSW	11	73,316,012 (GRCm39)	missense	probably benign	0.23
R4686:Or1e19	UTSW	11	73,316,264 (GRCm39)	missense	probably benign	0.35
R5168:Or1e19	UTSW	11	73,316,669 (GRCm39)	missense	probably benign	0.01
R5567:Or1e19	UTSW	11	73,316,272 (GRCm39)	missense	probably damaging	1.00
R5755:Or1e19	UTSW	11	73,316,557 (GRCm39)	missense	probably benign	0.22
R7190:Or1e19	UTSW	11	73,315,990 (GRCm39)	missense	probably benign	0.07
R7287:Or1e19	UTSW	11	73,316,669 (GRCm39)	missense	probably benign	0.01
R7404:Or1e19	UTSW	11	73,316,419 (GRCm39)	missense	probably damaging	1.00
R7462:Or1e19	UTSW	11	73,316,296 (GRCm39)	missense	probably benign	0.06
R7544:Or1e19	UTSW	11	73,316,596 (GRCm39)	missense	probably damaging	1.00
R7702:Or1e19	UTSW	11	73,324,175 (GRCm39)	unclassified	probably benign
R8408:Or1e19	UTSW	11	73,316,794 (GRCm39)	missense	probably damaging	1.00
R8977:Or1e19	UTSW	11	73,316,651 (GRCm39)	missense	probably benign	0.02
X0010:Or1e19	UTSW	11	73,315,977 (GRCm39)	missense	possibly damaging	0.59
Z1088:Or1e19	UTSW	11	73,315,931 (GRCm39)	splice site	probably benign	0.00

Posted On

2015-04-16