Mutagenetix > Incidental Mutation

Incidental Mutation 'R1653:Or56a5'

188853

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

039689-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R1653 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

104792557-104793516 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 104793077 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 141 (D141V)

Ref Sequence

ENSEMBL: ENSMUSP00000148110 (fasta)

Gene Model

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

AlphaFold

Q8VGV1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000061284
AA Change: D147V

PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000060527
Gene: ENSMUSG00000044120
AA Change: D147V

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

possibly damaging
Transcript: ENSMUST00000209879
AA Change: D141V

PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211388

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.7%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34	A	T	8: 44,103,682 (GRCm39)	C654*	probably null	Het
Adamts19	T	A	18: 59,023,365 (GRCm39)	N253K	probably benign	Het
Adgrb3	A	G	1: 25,140,584 (GRCm39)	L1162S	probably benign	Het
Ap2b1	T	A	11: 83,237,657 (GRCm39)	Y574N	probably damaging	Het
Atrn	A	G	2: 130,777,544 (GRCm39)	I198V	probably benign	Het
Bcan	T	A	3: 87,901,503 (GRCm39)	I400F	probably damaging	Het
Capn10	A	G	1: 92,874,620 (GRCm39)	Y617C	probably damaging	Het
Capn8	A	G	1: 182,451,516 (GRCm39)	N578D	probably benign	Het
Casd1	T	C	6: 4,624,134 (GRCm39)	L309P	probably benign	Het
Ccser1	T	A	6: 61,288,449 (GRCm39)	I204K	probably benign	Het
Cd276	T	C	9: 58,444,732 (GRCm39)	T80A	probably benign	Het
Cdh3	T	C	8: 107,265,700 (GRCm39)	S248P	probably damaging	Het
Celsr2	T	C	3: 108,320,836 (GRCm39)	T659A	possibly damaging	Het
Col6a4	C	T	9: 105,949,608 (GRCm39)	V676I	probably damaging	Het
Crmp1	T	A	5: 37,443,812 (GRCm39)	V575D	probably damaging	Het
Ep400	G	A	5: 110,841,040 (GRCm39)	Q1795*	probably null	Het
Gcnt3	A	G	9: 69,942,359 (GRCm39)	C70R	probably damaging	Het
Gm12258	T	C	11: 58,749,113 (GRCm39)	I96T	possibly damaging	Het
Gpr183	A	G	14: 122,191,675 (GRCm39)	F282S	probably damaging	Het
Igfals	T	C	17: 25,100,052 (GRCm39)	V381A	probably benign	Het
Irs3	C	A	5: 137,642,783 (GRCm39)	L218F	probably damaging	Het
Kdm5b	T	C	1: 134,530,219 (GRCm39)	F410S	probably damaging	Het
Klc4	T	C	17: 46,942,785 (GRCm39)	Y593C	possibly damaging	Het
Lce1h	T	A	3: 92,670,750 (GRCm39)	Q134L	unknown	Het
Lyst	T	C	13: 13,809,811 (GRCm39)	S494P	probably damaging	Het
Marchf3	A	G	18: 56,944,967 (GRCm39)	M42T	probably benign	Het
Myh7	A	G	14: 55,228,246 (GRCm39)	I250T	probably benign	Het
N4bp1	G	T	8: 87,571,576 (GRCm39)	H807Q	probably benign	Het
Ndn	C	T	7: 61,998,256 (GRCm39)	P34L	probably benign	Het
Nfs1	C	T	2: 155,967,256 (GRCm39)	G44D	probably damaging	Het
Nrg1	C	T	8: 32,308,681 (GRCm39)	R445H	probably damaging	Het
Or14c43	T	C	7: 86,115,420 (GRCm39)	V267A	probably benign	Het
Or4e5	A	T	14: 52,728,229 (GRCm39)	F64Y	probably damaging	Het
Pak5	C	T	2: 135,958,807 (GRCm39)	V94M	probably damaging	Het
Pdk1	G	A	2: 71,719,339 (GRCm39)		probably null	Het
Sin3b	G	T	8: 73,468,147 (GRCm39)	V290L	probably benign	Het
Sirt1	T	C	10: 63,157,588 (GRCm39)	T609A	probably benign	Het
Skint5	A	T	4: 113,347,875 (GRCm39)	S1289T	unknown	Het
Slc32a1	A	T	2: 158,456,809 (GRCm39)	H488L	probably benign	Het
Slc35b3	A	G	13: 39,139,774 (GRCm39)	S18P	probably benign	Het
Spaca7	T	A	8: 12,636,501 (GRCm39)	I109K	possibly damaging	Het
Tmem204	A	G	17: 25,299,501 (GRCm39)	L6P	possibly damaging	Het
Tubgcp6	G	A	15: 88,991,645 (GRCm39)	R651C	probably damaging	Het
Vps13b	T	A	15: 35,607,418 (GRCm39)	L1117*	probably null	Het
Wdcp	T	C	12: 4,901,815 (GRCm39)	L557P	probably damaging	Het
Wwp2	T	C	8: 108,210,042 (GRCm39)	F140S	possibly damaging	Het
Zfp429	C	T	13: 67,538,043 (GRCm39)	R467H	possibly damaging	Het
Zfp747l1	G	T	7: 126,983,652 (GRCm39)	H483Q	possibly damaging	Het
Zfp839	T	A	12: 110,821,684 (GRCm39)	M166K	probably benign	Het
Zfyve9	G	A	4: 108,517,774 (GRCm39)	Q1106*	probably null	Het
Zrsr2-ps1	T	A	11: 22,924,158 (GRCm39)	C311S	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
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
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

Predicted Primers

PCR Primer
(F):5'- TGCTTTGATCCTGAGCACAGCC -3'
(R):5'- TGCCTCACTGTCATACCTAAGGTCC -3'

Sequencing Primer
(F):5'- TGAGCACAGCCTTCAGAATG -3'
(R):5'- ACAGTTTCCTGACGATGGAG -3'

Posted On

2014-05-09