Mutagenetix > Incidental Mutation

Incidental Mutation 'R0959:Or2a56'

81767

Institutional Source

Beutler Lab

Gene Symbol

Or2a56

Ensembl Gene

ENSMUSG00000073110

Gene Name

olfactory receptor family 2 subfamily A member 56

Synonyms

Olfr444, MOR261-2, GA_x6K02T2P3E9-4602571-4601639

MMRRC Submission

039088-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R0959 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

42932434-42933366 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 42932686 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 85 (V85L)

Ref Sequence

ENSEMBL: ENSMUSP00000144691 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095955] [ENSMUST00000204092]

AlphaFold

Q8VFS6

Predicted Effect

probably benign
Transcript: ENSMUST00000095955
AA Change: V85L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000093649
Gene: ENSMUSG00000073110
AA Change: V85L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	307	1e-60	PFAM
Pfam:7tm_1	40	289	6.1e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000204092
AA Change: V85L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000144691
Gene: ENSMUSG00000073110
AA Change: V85L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	307	8.6e-60	PFAM
Pfam:7tm_1	40	289	3.5e-26	PFAM

Coding Region Coverage

1x: 99.6%
3x: 98.7%
10x: 95.8%
20x: 89.6%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl11	T	C	9: 107,808,434 (GRCm39)	V919A	probably damaging	Het
Adam28	G	A	14: 68,845,387 (GRCm39)	P761L	possibly damaging	Het
Aoc1l3	T	A	6: 48,965,566 (GRCm39)	C525S	possibly damaging	Het
Aplf	G	A	6: 87,623,065 (GRCm39)	P338L	probably benign	Het
Arl5b	T	A	2: 15,077,942 (GRCm39)	I89N	probably damaging	Het
Asap2	T	C	12: 21,297,320 (GRCm39)	V596A	probably damaging	Het
Baz1b	T	G	5: 135,273,076 (GRCm39)	F1400C	probably damaging	Het
Ccdc149	A	T	5: 52,542,497 (GRCm39)	L365Q	probably damaging	Het
Ccdc60	A	G	5: 116,318,870 (GRCm39)	S149P	probably damaging	Het
Ces1b	A	G	8: 93,794,775 (GRCm39)	C275R	probably damaging	Het
Creb3	T	C	4: 43,563,509 (GRCm39)	L163P	probably damaging	Het
Dhx37	T	G	5: 125,500,496 (GRCm39)	N570T	probably benign	Het
Epc1	T	C	18: 6,453,657 (GRCm39)	N223D	probably damaging	Het
Gbp5	C	T	3: 142,208,885 (GRCm39)	H143Y	possibly damaging	Het
Gfod1	A	T	13: 43,456,905 (GRCm39)	D23E	probably benign	Het
Gm7361	A	T	5: 26,467,051 (GRCm39)	E223D	possibly damaging	Het
Izumo1	A	G	7: 45,274,415 (GRCm39)	K161E	probably damaging	Het
Kcnh2	C	T	5: 24,527,670 (GRCm39)	R894H	probably damaging	Het
Lrp1b	T	C	2: 41,158,366 (GRCm39)	N1617S	possibly damaging	Het
Med13l	A	T	5: 118,892,350 (GRCm39)	E1924D	possibly damaging	Het
Mroh2a	GCCC	GC	1: 88,159,979 (GRCm39)		probably null	Het
Mtg2	T	G	2: 179,725,221 (GRCm39)	S145A	probably benign	Het
Mug2	G	A	6: 122,062,454 (GRCm39)	S1442N	probably benign	Het
Myo1b	A	T	1: 51,836,246 (GRCm39)	I315N	probably damaging	Het
Naip2	G	A	13: 100,291,386 (GRCm39)	T1184M	probably benign	Het
Naip2	T	A	13: 100,291,419 (GRCm39)	H1173L	probably benign	Het
Nsrp1	G	A	11: 76,937,285 (GRCm39)	R304*	probably null	Het
Oxtr	C	T	6: 112,454,138 (GRCm39)	R42Q	probably benign	Het
Parp4	T	C	14: 56,885,576 (GRCm39)	F1552L	unknown	Het
Pigw	G	A	11: 84,769,033 (GRCm39)	H99Y	probably benign	Het
Ppp6r2	G	A	15: 89,158,379 (GRCm39)	M444I	possibly damaging	Het
Rchy1	A	G	5: 92,105,476 (GRCm39)	F82L	probably damaging	Het
Reln	A	C	5: 22,432,626 (GRCm39)	F125V	probably damaging	Het
Riok1	G	A	13: 38,241,149 (GRCm39)	E435K	probably damaging	Het
Rnf213	A	G	11: 119,343,407 (GRCm39)	R3590G	probably damaging	Het
Scart2	A	G	7: 139,874,704 (GRCm39)	E394G	probably damaging	Het
Scrib	G	C	15: 75,923,310 (GRCm39)	P1249A	probably benign	Het
Shc4	C	T	2: 125,520,607 (GRCm39)		probably null	Het
Slc12a2	T	A	18: 58,037,450 (GRCm39)	I520N	probably damaging	Het
Slc26a5	A	G	5: 22,021,959 (GRCm39)	I484T	probably benign	Het
Slc39a11	G	T	11: 113,354,899 (GRCm39)	T110K	probably benign	Het
Snd1	T	A	6: 28,884,970 (GRCm39)	S774T	probably benign	Het
Spata31d1c	C	T	13: 65,184,129 (GRCm39)	P557L	probably damaging	Het
Tada1	A	G	1: 166,216,198 (GRCm39)	D133G	probably benign	Het
Tg	A	T	15: 66,579,859 (GRCm39)	T1555S	probably damaging	Het
Thra	A	G	11: 98,644,455 (GRCm39)	E15G	possibly damaging	Het
Timd5	A	T	11: 46,427,247 (GRCm39)	R187*	probably null	Het
Ttn	T	A	2: 76,625,440 (GRCm39)	I15128F	probably damaging	Het
Ube2r2	A	G	4: 41,174,066 (GRCm39)	Y68C	probably damaging	Het
Uncx	A	T	5: 139,532,442 (GRCm39)	N169I	probably damaging	Het
Vmn2r100	A	G	17: 19,743,786 (GRCm39)	Y483C	possibly damaging	Het
Xkr4	T	C	1: 3,286,897 (GRCm39)	D431G	probably damaging	Het
Xylb	C	A	9: 119,209,091 (GRCm39)	A311E	possibly damaging	Het
Zbtb39	C	G	10: 127,578,175 (GRCm39)	Q250E	probably benign	Het
Zbtb39	C	A	10: 127,578,931 (GRCm39)	H502N	probably damaging	Het
Zfp82	A	G	7: 29,755,876 (GRCm39)	L402P	probably damaging	Het
Zpbp2	G	A	11: 98,448,451 (GRCm39)	R256Q	probably benign	Het

Other mutations in Or2a56

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00926:Or2a56	APN	6	42,933,370 (GRCm39)	utr 3 prime	probably benign
IGL02135:Or2a56	APN	6	42,932,585 (GRCm39)	missense	probably damaging	0.99
IGL02323:Or2a56	APN	6	42,932,917 (GRCm39)	missense	probably benign	0.02
IGL02398:Or2a56	APN	6	42,933,046 (GRCm39)	missense	probably benign	0.02
IGL02622:Or2a56	APN	6	42,932,663 (GRCm39)	missense	probably damaging	0.99
R0077:Or2a56	UTSW	6	42,932,707 (GRCm39)	missense	probably benign	0.13
R0416:Or2a56	UTSW	6	42,932,504 (GRCm39)	missense	probably benign
R1181:Or2a56	UTSW	6	42,932,492 (GRCm39)	missense	probably benign	0.23
R1347:Or2a56	UTSW	6	42,932,639 (GRCm39)	missense	probably damaging	1.00
R1347:Or2a56	UTSW	6	42,932,639 (GRCm39)	missense	probably damaging	1.00
R1604:Or2a56	UTSW	6	42,932,650 (GRCm39)	missense	possibly damaging	0.73
R3021:Or2a56	UTSW	6	42,933,118 (GRCm39)	missense	possibly damaging	0.91
R4226:Or2a56	UTSW	6	42,932,689 (GRCm39)	missense	probably benign
R4227:Or2a56	UTSW	6	42,932,648 (GRCm39)	missense	possibly damaging	0.95
R4776:Or2a56	UTSW	6	42,932,455 (GRCm39)	missense	probably benign	0.00
R5941:Or2a56	UTSW	6	42,932,650 (GRCm39)	missense	possibly damaging	0.86
R7539:Or2a56	UTSW	6	42,933,037 (GRCm39)	missense	possibly damaging	0.95
R7763:Or2a56	UTSW	6	42,932,723 (GRCm39)	missense	probably benign	0.00
R9800:Or2a56	UTSW	6	42,933,091 (GRCm39)	missense	probably damaging	1.00
X0063:Or2a56	UTSW	6	42,932,953 (GRCm39)	missense	possibly damaging	0.64
Z1176:Or2a56	UTSW	6	42,933,232 (GRCm39)	missense	probably benign	0.14
Z1176:Or2a56	UTSW	6	42,932,624 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGATTCCAAGCAGACCTGAGTGTG -3'
(R):5'- CCAGCTTGAGGACAGACAGGATTTC -3'

Sequencing Primer
(F):5'- CAGACCTGAGTGTGGAGTG -3'
(R):5'- AGCTGCCAGGATGGTACAC -3'

Posted On

2013-11-08