Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03242:Or56a5'

414876

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or56a5

Ensembl Gene

ENSMUSG00000044120

Gene Name

olfactory receptor family 56 subfamily A member 5

Synonyms

Olfr683, MOR40-1, GA_x6K02T2PBJ9-7773007-7772066

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

IGL03242

Quality Score

Status

Chromosome

Chromosomal Location

104792557-104793516 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 104793473 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Phenylalanine at position 15 (S15F)

Ref Sequence

ENSEMBL: ENSMUSP00000060527 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061284] [ENSMUST00000209879]

AlphaFold

Q8VGV1

Predicted Effect

probably benign
Transcript: ENSMUST00000061284
AA Change: S15F

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000060527
Gene: ENSMUSG00000044120
AA Change: S15F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	40	318	8.5e-73	PFAM
Pfam:7TM_GPCR_Srsx	44	315	3.5e-8	PFAM
Pfam:7tm_1	50	300	1.3e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000209879
AA Change: S9F

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211388

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	C	16: 4,667,189 (GRCm39)	W221R	unknown	Het
Ank2	A	G	3: 126,722,454 (GRCm39)	F1000L	possibly damaging	Het
Aoc1l2	T	C	6: 48,909,479 (GRCm39)	F575L	possibly damaging	Het
Bahcc1	T	C	11: 120,159,126 (GRCm39)		probably benign	Het
BC024139	T	C	15: 76,004,520 (GRCm39)	M679V	probably benign	Het
Carmil2	A	G	8: 106,417,952 (GRCm39)		probably benign	Het
Catsperg2	A	G	7: 29,424,904 (GRCm39)		probably benign	Het
Chrnb4	A	T	9: 54,942,812 (GRCm39)	I154K	probably damaging	Het
Clec2e	A	C	6: 129,071,989 (GRCm39)	L130W	probably damaging	Het
Coro2b	G	T	9: 62,336,243 (GRCm39)	Y281*	probably null	Het
Dlk2	A	G	17: 46,613,903 (GRCm39)	Y386C	probably benign	Het
Dnah7a	A	T	1: 53,659,882 (GRCm39)	F709I	probably benign	Het
Efcab3	A	C	11: 104,997,230 (GRCm39)	E140A	probably damaging	Het
Exoc1	T	C	5: 76,706,854 (GRCm39)	L467P	probably damaging	Het
Fkbp2	A	G	19: 6,955,980 (GRCm39)	V75A	probably benign	Het
Glud1	T	C	14: 34,056,237 (GRCm39)	F304L	probably benign	Het
Gsr	T	A	8: 34,175,627 (GRCm39)	V291E	probably benign	Het
Itprid2	C	T	2: 79,473,815 (GRCm39)	R189*	probably null	Het
Kap	A	G	6: 133,828,763 (GRCm39)		probably benign	Het
Kmt2a	G	T	9: 44,759,689 (GRCm39)	T720N	probably damaging	Het
Lrrtm4	T	C	6: 79,999,071 (GRCm39)	I161T	probably benign	Het
Lyst	T	A	13: 13,831,466 (GRCm39)	L1630*	probably null	Het
Med13l	A	G	5: 118,885,510 (GRCm39)	S1488G	probably benign	Het
Mlxip	A	G	5: 123,578,124 (GRCm39)	K147E	probably damaging	Het
Nalcn	T	C	14: 123,558,899 (GRCm39)	E810G	possibly damaging	Het
Or2d4	A	G	7: 106,544,125 (GRCm39)	F28L	possibly damaging	Het
Or5p54	T	C	7: 107,554,688 (GRCm39)	V280A	possibly damaging	Het
Pcare	A	G	17: 72,057,266 (GRCm39)	S804P	probably benign	Het
Piezo2	T	C	18: 63,144,609 (GRCm39)		probably benign	Het
Scgb2b7	A	T	7: 31,404,506 (GRCm39)	C65S	probably damaging	Het
Serpina3j	G	A	12: 104,285,960 (GRCm39)	A372T	possibly damaging	Het
Slc28a3	G	A	13: 58,722,063 (GRCm39)	Q274*	probably null	Het
Stk36	T	C	1: 74,662,511 (GRCm39)	F543S	possibly damaging	Het
Tfrc	T	C	16: 32,448,930 (GRCm39)	S690P	probably damaging	Het
Tg	C	A	15: 66,555,647 (GRCm39)	Q780K	probably damaging	Het
Top1	T	A	2: 160,557,653 (GRCm39)	H578Q	probably damaging	Het
Treh	A	G	9: 44,596,634 (GRCm39)	T463A	possibly damaging	Het
Treml1	G	A	17: 48,673,016 (GRCm39)		probably benign	Het
Trpm2	A	G	10: 77,753,568 (GRCm39)	V1312A	probably benign	Het
Ttc41	T	A	10: 86,612,683 (GRCm39)	*1319K	probably null	Het
Tulp2	A	G	7: 45,171,282 (GRCm39)	I354M	probably damaging	Het
Ugt2b35	T	C	5: 87,155,254 (GRCm39)	L363P	probably damaging	Het
Usp13	A	T	3: 32,956,218 (GRCm39)	M496L	probably benign	Het
Virma	T	C	4: 11,527,669 (GRCm39)	S1187P	possibly damaging	Het
Wdr76	T	A	2: 121,372,951 (GRCm39)	C593S	probably damaging	Het
Zfp446	G	A	7: 12,713,252 (GRCm39)	A97T	probably damaging	Het

Other mutations in Or56a5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01814:Or56a5	APN	7	104,792,811 (GRCm39)	missense	possibly damaging	0.48
IGL01984:Or56a5	APN	7	104,792,923 (GRCm39)	missense	probably benign	0.00
IGL02456:Or56a5	APN	7	104,792,966 (GRCm39)	missense	probably damaging	0.99
R0234:Or56a5	UTSW	7	104,793,281 (GRCm39)	missense	probably damaging	1.00
R0234:Or56a5	UTSW	7	104,793,281 (GRCm39)	missense	probably damaging	1.00
R1282:Or56a5	UTSW	7	104,792,859 (GRCm39)	missense	probably benign	0.01
R1485:Or56a5	UTSW	7	104,792,888 (GRCm39)	missense	probably benign	0.00
R1653:Or56a5	UTSW	7	104,793,077 (GRCm39)	missense	possibly damaging	0.80
R2130:Or56a5	UTSW	7	104,792,757 (GRCm39)	missense	probably benign	0.03
R2355:Or56a5	UTSW	7	104,793,020 (GRCm39)	missense	probably benign	0.11
R4491:Or56a5	UTSW	7	104,792,983 (GRCm39)	nonsense	probably null
R4826:Or56a5	UTSW	7	104,793,175 (GRCm39)	missense	probably damaging	0.99
R4980:Or56a5	UTSW	7	104,793,431 (GRCm39)	missense	probably benign
R5934:Or56a5	UTSW	7	104,792,867 (GRCm39)	missense	probably benign	0.12
R6354:Or56a5	UTSW	7	104,792,915 (GRCm39)	missense	probably benign	0.04
R7371:Or56a5	UTSW	7	104,793,086 (GRCm39)	missense	possibly damaging	0.82
R7463:Or56a5	UTSW	7	104,793,144 (GRCm39)	missense	probably benign	0.00
R7753:Or56a5	UTSW	7	104,793,007 (GRCm39)	missense	probably benign	0.07
R8208:Or56a5	UTSW	7	104,792,625 (GRCm39)	missense	probably damaging	0.99
R8909:Or56a5	UTSW	7	104,793,249 (GRCm39)	missense	probably benign	0.39
R8946:Or56a5	UTSW	7	104,792,832 (GRCm39)	missense	probably damaging	1.00
R9415:Or56a5	UTSW	7	104,793,498 (GRCm39)	missense	probably benign	0.00
R9493:Or56a5	UTSW	7	104,793,497 (GRCm39)	missense	possibly damaging	0.47
R9632:Or56a5	UTSW	7	104,793,165 (GRCm39)	missense	probably benign	0.00

Posted On

2016-08-02