Mutagenetix > Incidental Mutation

Incidental Mutation 'R8909:Or56a5'

678511

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

068700-MU

Accession Numbers

Essential gene?

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

Stock #

R8909 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

104792557-104793516 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 104793249 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 84 (V84I)

Ref Sequence

ENSEMBL: ENSMUSP00000148110 (fasta)

Gene Model

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

AlphaFold

Q8VGV1

Predicted Effect

probably benign
Transcript: ENSMUST00000061284
AA Change: V90I

PolyPhen 2 Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000060527
Gene: ENSMUSG00000044120
AA Change: V90I

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: V84I

PolyPhen 2 Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)

Coding Region Coverage

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

Validation Efficiency

96% (47/49)

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
Aopep	G	T	13: 63,388,111 (GRCm39)	R698L	possibly damaging	Het
Btnl10	T	C	11: 58,813,198 (GRCm39)	C276R	probably benign	Het
Calcoco2	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	11: 95,990,808 (GRCm39)		probably benign	Het
Cavin4	G	A	4: 48,672,421 (GRCm39)	G289R	probably benign	Het
Cdh9	T	C	15: 16,848,610 (GRCm39)	F430S	probably damaging	Het
Cfh	A	G	1: 140,014,086 (GRCm39)	I1246T	possibly damaging	Het
Chd8	C	T	14: 52,450,389 (GRCm39)	V1490M	possibly damaging	Het
Clec2g	A	G	6: 128,958,195 (GRCm39)	N137S	probably benign	Het
Cntn6	T	A	6: 104,825,093 (GRCm39)	S878T	probably benign	Het
Cryga	G	T	1: 65,142,173 (GRCm39)	S73R	probably benign	Het
Dach1	T	C	14: 98,406,120 (GRCm39)	D209G	probably damaging	Het
Dnai4	T	G	4: 102,944,607 (GRCm39)	E248A	possibly damaging	Het
Duox2	A	G	2: 122,126,862 (GRCm39)	S218P	probably benign	Het
Fbn2	T	A	18: 58,192,508 (GRCm39)	Q1491L	possibly damaging	Het
Foxg1	CCAGCAGCAGCAGCAGCAGC	CCAGCAGCAGCAGCAGC	12: 49,431,475 (GRCm39)		probably benign	Het
Glra3	A	T	8: 56,444,159 (GRCm39)		probably null	Het
Helz	A	G	11: 107,556,834 (GRCm39)	D1284G	possibly damaging	Het
Iqsec3	G	A	6: 121,390,118 (GRCm39)	A451V	unknown	Het
Kat6b	A	G	14: 21,719,214 (GRCm39)	T1189A	probably benign	Het
Lama1	T	A	17: 68,079,736 (GRCm39)	F1203Y		Het
Lingo2	A	G	4: 35,708,349 (GRCm39)	S544P	probably damaging	Het
Llcfc1	T	C	6: 41,661,525 (GRCm39)	V25A	probably benign	Het
Map1a	A	C	2: 121,129,391 (GRCm39)	H143P	probably damaging	Het
Mbd5	T	C	2: 49,169,233 (GRCm39)	V1468A	probably benign	Het
Meis3	T	A	7: 15,919,385 (GRCm39)	M367K	possibly damaging	Het
Myo3b	G	A	2: 70,083,440 (GRCm39)	A698T	probably damaging	Het
Nbn	A	T	4: 15,970,833 (GRCm39)	D272V	probably damaging	Het
Or51a43	A	G	7: 103,718,032 (GRCm39)	S69P	probably damaging	Het
Or7g20	G	T	9: 18,946,888 (GRCm39)	M156I	probably benign	Het
Or8k27	C	T	2: 86,276,082 (GRCm39)	M81I	possibly damaging	Het
Os9	C	A	10: 126,956,825 (GRCm39)		probably null	Het
Pard3b	A	G	1: 62,383,294 (GRCm39)	D796G	probably benign	Het
Peg10	T	TCCG	6: 4,756,451 (GRCm39)		probably benign	Het
Pkp4	A	G	2: 59,184,758 (GRCm39)	E1180G	possibly damaging	Het
Plod1	T	A	4: 148,011,563 (GRCm39)	K221*	probably null	Het
Ppp6r3	T	C	19: 3,509,461 (GRCm39)	T795A	probably benign	Het
Pramel15	T	C	4: 144,103,553 (GRCm39)	Q191R	probably benign	Het
Prokr2	T	C	2: 132,215,723 (GRCm39)	E246G	probably damaging	Het
Psmb7	A	G	2: 38,503,481 (GRCm39)	M178T	probably damaging	Het
Rbm39	C	T	2: 156,019,697 (GRCm39)		probably benign	Het
Saa1	T	C	7: 46,390,773 (GRCm39)	N46S	probably benign	Het
Samd12	A	G	15: 53,521,853 (GRCm39)	L119P	probably damaging	Het
Sdc3	A	G	4: 130,546,094 (GRCm39)	E151G	unknown	Het
Serpina1a	T	C	12: 103,820,938 (GRCm39)	K370E	probably damaging	Het
Slc49a3	C	T	5: 108,592,432 (GRCm39)	V253I	probably benign	Het
Tnrc18	C	A	5: 142,762,131 (GRCm39)	S681I		Het
Ulk2	C	T	11: 61,690,380 (GRCm39)	G636R	probably benign	Het
V1ra8	T	C	6: 90,179,938 (GRCm39)	L47P	possibly damaging	Het
Wasf3	T	C	5: 146,392,410 (GRCm39)	L160P		Het
Zbtb34	A	C	2: 33,301,701 (GRCm39)	V280G	possibly damaging	Het
Zfp646	T	C	7: 127,478,515 (GRCm39)	Y231H	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
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
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'- CTGCTACAAAGATGGCAGCC -3'
(R):5'- AGCAACACTTCCTCTATCCTGG -3'

Sequencing Primer
(F):5'- CCACAAACTGATCAGTGATGATG -3'
(R):5'- CCAGACCTGGCAGCATTG -3'

Posted On

2021-08-02