Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02937:Or51a43'

364365

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or51a43

Ensembl Gene

ENSMUSG00000110012

Gene Name

olfactory receptor family 51 subfamily A member 43

Synonyms

Olfr644, MOR13-1, GA_x6K02T2PBJ9-6803062-6802118

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.240) question?

Stock #

IGL02937

Quality Score

Status

Chromosome

Chromosomal Location

103717292-103718236 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 103718056 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 61 (M61L)

Ref Sequence

ENSEMBL: ENSMUSP00000149600 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077417] [ENSMUST00000138055] [ENSMUST00000213184] [ENSMUST00000213991]

AlphaFold

Q8VH21

Predicted Effect

probably damaging
Transcript: ENSMUST00000077417
AA Change: M61L

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000076633
Gene: ENSMUSG00000110012
AA Change: M61L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	312	2e-122	PFAM
Pfam:7TM_GPCR_Srsx	37	256	5.9e-8	PFAM
Pfam:7tm_1	43	294	1.4e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000138055

SMART Domains

Protein: ENSMUSP00000139240
Gene: ENSMUSG00000109824

Domain	Start	End	E-Value	Type
transmembrane domain	29	51	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000213184
AA Change: M61L

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000213991
AA Change: M61L

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

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
4931406C07Rik	C	T	9: 15,206,049 (GRCm39)	C21Y	probably damaging	Het
4933427D06Rik	T	C	6: 89,085,127 (GRCm39)		noncoding transcript	Het
5730480H06Rik	A	G	5: 48,536,783 (GRCm39)	I160V	probably benign	Het
Arhgap29	G	A	3: 121,767,698 (GRCm39)	E47K	probably damaging	Het
Arhgef12	T	A	9: 42,927,216 (GRCm39)	S303C	probably damaging	Het
Bap1	A	G	14: 30,980,284 (GRCm39)	N644S	probably benign	Het
Cc2d1b	A	G	4: 108,489,091 (GRCm39)	E796G	probably damaging	Het
Cfh	C	A	1: 140,033,180 (GRCm39)	R788L	probably benign	Het
Cldn1	A	G	16: 26,179,623 (GRCm39)	F148S	probably damaging	Het
Cryzl1	A	G	16: 91,487,619 (GRCm39)	M292T	possibly damaging	Het
Cyp11b1	T	C	15: 74,708,408 (GRCm39)	R385G	possibly damaging	Het
Cyp4f37	T	C	17: 32,844,163 (GRCm39)	L89P	probably benign	Het
Dach1	A	G	14: 98,153,231 (GRCm39)		probably null	Het
Dhtkd1	A	G	2: 5,922,716 (GRCm39)	I481T	possibly damaging	Het
Dlx5	A	T	6: 6,881,755 (GRCm39)	D44E	probably damaging	Het
Dsg1a	T	A	18: 20,464,591 (GRCm39)	I362N	possibly damaging	Het
Ecm2	T	A	13: 49,671,952 (GRCm39)	I151N	probably damaging	Het
Far1	T	A	7: 113,139,855 (GRCm39)	I101N	probably damaging	Het
Gm21985	T	C	2: 112,172,207 (GRCm39)	S384P	probably benign	Het
Gnb5	T	C	9: 75,247,471 (GRCm39)	Y247H	probably damaging	Het
Golgb1	A	G	16: 36,736,572 (GRCm39)	K1940E	probably damaging	Het
Gprc5b	A	G	7: 118,583,017 (GRCm39)	V284A	probably benign	Het
Idh2	T	C	7: 79,748,661 (GRCm39)	Y179C	probably damaging	Het
Kalrn	G	A	16: 34,040,500 (GRCm39)	Q737*	probably null	Het
Kcnj13	T	C	1: 87,314,175 (GRCm39)	D349G	probably damaging	Het
Lgsn	A	T	1: 31,243,318 (GRCm39)	T467S	possibly damaging	Het
Map9	T	A	3: 82,270,819 (GRCm39)	S128T	possibly damaging	Het
Mroh5	A	G	15: 73,661,827 (GRCm39)	C455R	probably damaging	Het
Nes	A	G	3: 87,887,186 (GRCm39)	H1771R	probably benign	Het
Nkain2	T	C	10: 32,205,840 (GRCm39)	Y65C	probably damaging	Het
Or51b6b	A	T	7: 103,310,112 (GRCm39)	V115D	probably damaging	Het
Or6aa1	T	C	7: 86,043,798 (GRCm39)	K303E	possibly damaging	Het
Pabpc4l	A	C	3: 46,400,725 (GRCm39)	D306E	probably benign	Het
Parp12	A	T	6: 39,079,515 (GRCm39)	Y332N	probably damaging	Het
Parvb	A	T	15: 84,193,154 (GRCm39)	K316M	probably damaging	Het
Pde8a	T	A	7: 80,945,519 (GRCm39)		probably benign	Het
Polq	A	G	16: 36,833,471 (GRCm39)	T55A	probably benign	Het
Ppp2r5b	T	A	19: 6,281,016 (GRCm39)	K271M	probably damaging	Het
Ralgapb	A	G	2: 158,334,936 (GRCm39)		probably null	Het
Rigi	C	T	4: 40,229,661 (GRCm39)	C86Y	probably benign	Het
Skap2	T	C	6: 51,886,351 (GRCm39)	N175D	probably benign	Het
Slc44a3	A	G	3: 121,303,970 (GRCm39)		probably benign	Het
Smurf2	G	A	11: 106,736,873 (GRCm39)	H318Y	probably damaging	Het
Tbc1d23	T	C	16: 57,004,778 (GRCm39)	T460A	possibly damaging	Het
Tcerg1	T	C	18: 42,657,414 (GRCm39)	S299P	unknown	Het
Tll1	A	C	8: 64,658,319 (GRCm39)	Y33*	probably null	Het
Tmem59	A	T	4: 107,054,782 (GRCm39)	T196S	probably damaging	Het
Ttll4	C	A	1: 74,718,662 (GRCm39)	A171D	possibly damaging	Het
Ttn	T	C	2: 76,641,513 (GRCm39)	T13528A	possibly damaging	Het
Ttn	A	G	2: 76,717,621 (GRCm39)		probably benign	Het
Xpc	C	A	6: 91,477,119 (GRCm39)	G327W	probably damaging	Het
Zbtb7a	A	G	10: 80,980,132 (GRCm39)	S109G	probably benign	Het
Zfyve26	T	C	12: 79,285,794 (GRCm39)	M2328V	probably benign	Het

Other mutations in Or51a43

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01614:Or51a43	APN	7	103,717,576 (GRCm39)	missense	probably benign	0.00
IGL03188:Or51a43	APN	7	103,717,945 (GRCm39)	missense	possibly damaging	0.89
FR4737:Or51a43	UTSW	7	103,720,499 (GRCm39)	start gained	probably benign
R0467:Or51a43	UTSW	7	103,717,332 (GRCm39)	missense	probably benign	0.07
R1310:Or51a43	UTSW	7	103,717,805 (GRCm39)	missense	probably benign
R1457:Or51a43	UTSW	7	103,717,666 (GRCm39)	missense	probably damaging	1.00
R1619:Or51a43	UTSW	7	103,717,738 (GRCm39)	missense	probably damaging	1.00
R1874:Or51a43	UTSW	7	103,717,336 (GRCm39)	missense	probably null	1.00
R2428:Or51a43	UTSW	7	103,717,675 (GRCm39)	nonsense	probably null
R2922:Or51a43	UTSW	7	103,717,794 (GRCm39)	missense	probably benign	0.09
R2923:Or51a43	UTSW	7	103,717,794 (GRCm39)	missense	probably benign	0.09
R3929:Or51a43	UTSW	7	103,717,791 (GRCm39)	missense	probably benign	0.06
R4500:Or51a43	UTSW	7	103,717,402 (GRCm39)	missense	probably damaging	1.00
R5035:Or51a43	UTSW	7	103,717,614 (GRCm39)	missense	possibly damaging	0.95
R5303:Or51a43	UTSW	7	103,718,239 (GRCm39)	utr 5 prime	probably benign
R5464:Or51a43	UTSW	7	103,717,674 (GRCm39)	missense	possibly damaging	0.72
R5722:Or51a43	UTSW	7	103,717,930 (GRCm39)	missense	probably damaging	1.00
R5742:Or51a43	UTSW	7	103,717,412 (GRCm39)	missense	probably damaging	0.97
R6874:Or51a43	UTSW	7	103,717,396 (GRCm39)	missense	possibly damaging	0.50
R6940:Or51a43	UTSW	7	103,717,620 (GRCm39)	missense	possibly damaging	0.82
R7848:Or51a43	UTSW	7	103,717,302 (GRCm39)	missense	probably benign
R8343:Or51a43	UTSW	7	103,717,383 (GRCm39)	missense	probably damaging	1.00
R8714:Or51a43	UTSW	7	103,717,483 (GRCm39)	missense	probably damaging	0.97
R8866:Or51a43	UTSW	7	103,718,119 (GRCm39)	missense	probably damaging	0.99
R8909:Or51a43	UTSW	7	103,718,032 (GRCm39)	missense	probably damaging	1.00
R8966:Or51a43	UTSW	7	103,718,139 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-12-18