Mutagenetix > Incidental Mutation

Incidental Mutation 'R4826:Or56a5'

374149

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

042442-MU

Accession Numbers

Essential gene?

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

Stock #

R4826 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104792557-104793516 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 104793175 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 108 (N108K)

Ref Sequence

ENSEMBL: ENSMUSP00000148110 (fasta)

Gene Model

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

AlphaFold

Q8VGV1

Predicted Effect

probably damaging
Transcript: ENSMUST00000061284
AA Change: N114K

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000060527
Gene: ENSMUSG00000044120
AA Change: N114K

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: N108K

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211388

Meta Mutation Damage Score

0.1326

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

100% (72/72)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	T	7: 119,815,470 (GRCm39)	R239S	probably damaging	Het
Acin1	A	G	14: 54,902,074 (GRCm39)	S573P	probably damaging	Het
Acta2	A	T	19: 34,229,223 (GRCm39)	Y55*	probably null	Het
Aifm2	T	C	10: 61,561,768 (GRCm39)	M38T	probably benign	Het
Ank2	C	A	3: 126,749,650 (GRCm39)	V460L	probably benign	Het
Ap1b1	T	C	11: 4,968,043 (GRCm39)	S185P	probably benign	Het
Arsj	A	G	3: 126,232,451 (GRCm39)	Y399C	probably damaging	Het
Ciao3	A	G	17: 25,999,306 (GRCm39)	H240R	probably damaging	Het
Clec2d	T	C	6: 129,161,122 (GRCm39)	V73A	probably benign	Het
Cntln	T	G	4: 84,923,281 (GRCm39)	M582R	probably benign	Het
Cyp4a10	C	T	4: 115,375,541 (GRCm39)	P8L	probably benign	Het
Dip2b	A	G	15: 100,067,162 (GRCm39)	N555D	probably damaging	Het
Dusp4	T	A	8: 35,285,671 (GRCm39)	F311I	probably damaging	Het
Eif4g3	T	C	4: 137,905,256 (GRCm39)	V1245A	possibly damaging	Het
Ephb3	G	A	16: 21,033,745 (GRCm39)	R23H	possibly damaging	Het
Ext2	T	C	2: 93,592,975 (GRCm39)	T410A	probably benign	Het
Fam193a	A	G	5: 34,593,875 (GRCm39)	E124G	probably damaging	Het
Fat4	T	A	3: 39,037,106 (GRCm39)	V3586E	probably damaging	Het
Frmd4a	T	C	2: 4,606,108 (GRCm39)	S611P	probably damaging	Het
Gcn1	A	G	5: 115,731,752 (GRCm39)	T956A	probably benign	Het
Gm10549	C	A	18: 33,603,838 (GRCm39)	T107K	unknown	Het
Herc6	T	A	6: 57,624,072 (GRCm39)	M614K	probably benign	Het
Hspg2	T	C	4: 137,292,706 (GRCm39)	C4095R	probably damaging	Het
Hyal5	T	C	6: 24,891,575 (GRCm39)	I463T	possibly damaging	Het
Icam5	C	T	9: 20,949,099 (GRCm39)	A817V	possibly damaging	Het
Igf2r	A	T	17: 12,920,240 (GRCm39)	D1366E	probably damaging	Het
Ints7	G	A	1: 191,344,018 (GRCm39)	V553I	probably damaging	Het
Iqgap2	T	A	13: 95,899,783 (GRCm39)	I92F	probably damaging	Het
Itgb1	T	A	8: 129,446,789 (GRCm39)	C435S	probably damaging	Het
Lrrc71	T	C	3: 87,650,615 (GRCm39)	M216V	probably benign	Het
Mgam	T	C	6: 40,657,582 (GRCm39)	V979A	possibly damaging	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Myh9	A	T	15: 77,673,146 (GRCm39)	Y400*	probably null	Het
Nbeal1	A	G	1: 60,290,501 (GRCm39)	R1033G	possibly damaging	Het
Nit1	T	C	1: 171,173,166 (GRCm39)		probably benign	Het
Nlrp1c-ps	A	G	11: 71,133,343 (GRCm39)		noncoding transcript	Het
Nt5c1a	T	C	4: 123,102,365 (GRCm39)	V97A	probably damaging	Het
Or12k5	A	G	2: 36,895,345 (GRCm39)	Y94H	probably damaging	Het
Or13a18	T	A	7: 140,190,232 (GRCm39)	M51K	probably benign	Het
Or1a1b	A	G	11: 74,097,157 (GRCm39)	M295T	possibly damaging	Het
Or9m1	T	A	2: 87,733,693 (GRCm39)	D109V	probably damaging	Het
Pde4a	T	A	9: 21,103,676 (GRCm39)		probably null	Het
Pkn2	T	C	3: 142,515,270 (GRCm39)	K640R	probably damaging	Het
Pla2g6	A	G	15: 79,192,879 (GRCm39)	S263P	possibly damaging	Het
Prkg1	A	G	19: 31,742,006 (GRCm39)	S73P	possibly damaging	Het
Prr27	A	C	5: 87,998,825 (GRCm39)		probably benign	Het
Rad54b	G	T	4: 11,599,753 (GRCm39)	W319L	probably damaging	Het
Rassf8	T	A	6: 145,762,276 (GRCm39)	L349H	probably damaging	Het
Rmc1	G	T	18: 12,318,836 (GRCm39)		probably benign	Het
Rnf113a2	T	A	12: 84,464,388 (GRCm39)	N93K	probably benign	Het
Sapcd2	C	T	2: 25,262,768 (GRCm39)	A109V	probably benign	Het
Slamf9	C	A	1: 172,304,008 (GRCm39)	H118N	probably benign	Het
Slc37a1	A	G	17: 31,541,147 (GRCm39)	Y213C	probably damaging	Het
Slc5a1	A	G	5: 33,316,494 (GRCm39)	D580G	probably benign	Het
Slc7a2	T	A	8: 41,364,083 (GRCm39)	I432N	probably damaging	Het
Tas2r114	A	T	6: 131,666,800 (GRCm39)	L76Q	probably damaging	Het
Tcerg1	C	T	18: 42,668,180 (GRCm39)	P391L	unknown	Het
Tdrd12	A	C	7: 35,203,582 (GRCm39)	V314G	probably benign	Het
Zbtb7b	A	G	3: 89,288,080 (GRCm39)	L246S	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- ACAGACATGTTAGTGCAGATGC -3'
(R):5'- CCTTCTCATCACCATCAGGATG -3'

Sequencing Primer
(F):5'- CTTGCACAATATCTCAGTTGGG -3'
(R):5'- ATCAGGATGGAGGCCTCTCTG -3'

Posted On

2016-03-01