Mutagenetix > Incidental Mutation

Incidental Mutation 'R8208:Or56a5'

636012

Institutional Source

Beutler Lab

Gene Symbol

Or56a5

Ensembl Gene

ENSMUSG00000044120

Gene Name

olfactory receptor family 56 subfamily A member 5

Synonyms

Olfr683, MOR40-1, GA_x6K02T2PBJ9-7773007-7772066

MMRRC Submission

067631-MU

Accession Numbers

Essential gene?

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

Stock #

R8208 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104792557-104793516 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 104792625 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 298 (I298F)

Ref Sequence

ENSEMBL: ENSMUSP00000060527 (fasta)

Gene Model

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

AlphaFold

Q8VGV1

Predicted Effect

probably damaging
Transcript: ENSMUST00000061284
AA Change: I298F

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000060527
Gene: ENSMUSG00000044120
AA Change: I298F

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 damaging
Transcript: ENSMUST00000209879
AA Change: I292F

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

98% (47/48)

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
Abcg2	G	A	6: 58,642,227 (GRCm39)	V172I	possibly damaging	Het
Agbl1	T	A	7: 76,369,916 (GRCm39)	C924S	unknown	Het
Arhgap11a	T	C	2: 113,673,284 (GRCm39)	S100G	probably benign	Het
Chd9	T	A	8: 91,763,891 (GRCm39)		probably null	Het
Col1a2	T	A	6: 4,515,260 (GRCm39)		probably null	Het
Colec10	C	G	15: 54,325,696 (GRCm39)	H175Q	possibly damaging	Het
Cyp46a1	A	T	12: 108,318,171 (GRCm39)		probably null	Het
Dennd4b	T	A	3: 90,178,278 (GRCm39)	I501N	possibly damaging	Het
Dnah2	A	G	11: 69,411,678 (GRCm39)	F315L	probably benign	Het
Emilin1	A	G	5: 31,074,860 (GRCm39)	E367G	probably damaging	Het
Flvcr2	GTAGTGTATA	GTA	12: 85,849,922 (GRCm39)		probably null	Het
Folh1	A	T	7: 86,375,125 (GRCm39)	H620Q	probably damaging	Het
Galnt10	A	T	11: 57,536,398 (GRCm39)	E5V	possibly damaging	Het
Gmcl1	A	G	6: 86,698,381 (GRCm39)	V172A	probably damaging	Het
Greb1l	T	C	18: 10,510,703 (GRCm39)	L599P	probably damaging	Het
Hcn2	T	A	10: 79,566,778 (GRCm39)	M485K	possibly damaging	Het
Hirip3	G	T	7: 126,463,595 (GRCm39)	C494F	probably damaging	Het
Hsfy2	A	G	1: 56,676,310 (GRCm39)	F76L	probably benign	Het
Lamc3	A	G	2: 31,777,426 (GRCm39)	H24R	possibly damaging	Het
Laptm4b	G	A	15: 34,277,591 (GRCm39)	S174N	probably damaging	Het
Lgals8	A	G	13: 12,468,255 (GRCm39)	Y125H	probably damaging	Het
Mapk14	A	T	17: 28,943,807 (GRCm39)	Y132F	probably damaging	Het
Mxd4	A	T	5: 34,335,070 (GRCm39)	I115N	probably benign	Het
Ndufaf1	T	C	2: 119,490,827 (GRCm39)	T80A	probably benign	Het
Or10ag53	A	G	2: 87,083,007 (GRCm39)	K242R	probably benign	Het
Or11h6	T	C	14: 50,880,088 (GRCm39)	F117L	probably benign	Het
Or5k3	C	A	16: 58,969,382 (GRCm39)	H56Q	probably benign	Het
Pcf11	G	T	7: 92,298,731 (GRCm39)	N1268K	probably damaging	Het
Plcl2	T	C	17: 50,915,343 (GRCm39)	V784A	probably damaging	Het
Ptp4a2	C	T	4: 129,736,485 (GRCm39)	T40I	probably benign	Het
Rab2b	C	T	14: 52,502,224 (GRCm39)	A159T	possibly damaging	Het
Sec61a2	G	T	2: 5,881,809 (GRCm39)	T207K	probably benign	Het
Serpina5	A	G	12: 104,071,532 (GRCm39)	I380V	probably benign	Het
Slc26a2	C	T	18: 61,331,806 (GRCm39)	V542M	probably damaging	Het
Snd1	C	T	6: 28,526,054 (GRCm39)	P144L	possibly damaging	Het
Spop	C	T	11: 95,382,650 (GRCm39)	R370C	probably damaging	Het
Sptbn1	T	C	11: 30,074,972 (GRCm39)	D1300G	probably damaging	Het
Sptbn5	T	A	2: 119,878,326 (GRCm39)	K891*	noncoding transcript	Het
Tnrc6b	G	A	15: 80,742,901 (GRCm39)	E45K	possibly damaging	Het
Tpst1	A	G	5: 130,130,751 (GRCm39)	I74V	probably benign	Het
Ttn	T	C	2: 76,556,192 (GRCm39)	H30271R	probably damaging	Het
Ush2a	G	T	1: 188,606,990 (GRCm39)	A3962S	possibly damaging	Het
Vmn1r200	G	A	13: 22,579,470 (GRCm39)	R91H	probably damaging	Het
Vmn2r22	T	A	6: 123,614,444 (GRCm39)	N382I	probably damaging	Het
Vmn2r53	A	G	7: 12,335,322 (GRCm39)	S113P	probably damaging	Het
Zfp335	C	A	2: 164,735,536 (GRCm39)		probably null	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
IGL03242:Or56a5	APN	7	104,793,473 (GRCm39)	missense	probably benign	0.00
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
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

Predicted Primers

PCR Primer
(F):5'- CCAGGTCCCATTTCAACATGATTAC -3'
(R):5'- TGAAGGCTGTGCTCAGGATC -3'

Sequencing Primer
(F):5'- CCATTTCAACATGATTACTTAACACC -3'
(R):5'- GCTGTGCTCAGGATCAAAGC -3'

Posted On

2020-07-13