Mutagenetix > Incidental Mutation

Incidental Mutation 'R0735:Or56b2'

68231

Institutional Source

Beutler Lab

Gene Symbol

Or56b2

Ensembl Gene

ENSMUSG00000073920

Gene Name

olfactory receptor family 56 subfamily B member 2

Synonyms

Olfr661, MOR40-4, GA_x6K02T2PBJ9-7316375-7317334

MMRRC Submission

038916-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R0735 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104337224-104338183 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 104338026 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 268 (H268L)

Ref Sequence

ENSEMBL: ENSMUSP00000151208 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098168] [ENSMUST00000214876]

AlphaFold

Q99NH4

Predicted Effect

probably damaging
Transcript: ENSMUST00000098168
AA Change: H268L

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000095770
Gene: ENSMUSG00000073920
AA Change: H268L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	37	314	5.9e-74	PFAM
Pfam:7TM_GPCR_Srsx	41	312	2e-9	PFAM
Pfam:7tm_1	47	297	1.1e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211165

Predicted Effect

probably damaging
Transcript: ENSMUST00000214876
AA Change: H268L

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215864

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.5%
3x: 98.7%
10x: 96.7%
20x: 91.8%

Validation Efficiency

95% (73/77)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr8	T	A	14: 29,711,669 (GRCm39)	M405K	probably benign	Het
Adam10	G	A	9: 70,655,533 (GRCm39)	V334I	possibly damaging	Het
Adgra2	G	T	8: 27,607,346 (GRCm39)	G686C	probably damaging	Het
Akap11	A	T	14: 78,747,518 (GRCm39)	I1623N	probably damaging	Het
Astn1	A	T	1: 158,299,959 (GRCm39)	T100S	possibly damaging	Het
B3galt1	A	C	2: 67,948,923 (GRCm39)	I213L	possibly damaging	Het
B4galnt4	A	G	7: 140,644,236 (GRCm39)	K101E	probably benign	Het
Brd10	A	T	19: 29,695,038 (GRCm39)	I1552K	possibly damaging	Het
Camsap2	A	G	1: 136,220,626 (GRCm39)	S324P	probably damaging	Het
Chrnb4	A	G	9: 54,951,084 (GRCm39)	S60P	probably damaging	Het
Cpne1	A	G	2: 155,920,670 (GRCm39)		probably null	Het
Cubn	G	A	2: 13,496,500 (GRCm39)		probably benign	Het
Cul7	T	A	17: 46,974,116 (GRCm39)	L1467H	probably damaging	Het
Cxcl15	T	C	5: 90,949,153 (GRCm39)	M106T	probably benign	Het
Cyp2c23	A	T	19: 44,005,249 (GRCm39)	M140K	probably damaging	Het
Dgke	A	G	11: 88,950,901 (GRCm39)	F104S	probably benign	Het
Dhx36	T	A	3: 62,380,150 (GRCm39)	M849L	probably benign	Het
Dnah7a	C	T	1: 53,583,670 (GRCm39)	E1522K	possibly damaging	Het
Edil3	G	T	13: 89,325,297 (GRCm39)	V219F	probably damaging	Het
Egln1	A	G	8: 125,675,234 (GRCm39)	V187A	possibly damaging	Het
Fam193a	T	C	5: 34,596,722 (GRCm39)	I455T	possibly damaging	Het
Fdft1	A	T	14: 63,400,869 (GRCm39)	I88N	probably damaging	Het
Fem1c	G	A	18: 46,638,227 (GRCm39)	R592C	probably benign	Het
Frs2	T	A	10: 116,910,487 (GRCm39)	S292C	probably damaging	Het
Gpr107	T	A	2: 31,062,006 (GRCm39)	F145I	probably benign	Het
Gpr153	T	A	4: 152,363,830 (GRCm39)	C83*	probably null	Het
H2-Q7	T	G	17: 35,659,162 (GRCm39)		probably null	Het
Hsp90b1	A	T	10: 86,531,612 (GRCm39)		probably benign	Het
Kcnk1	C	A	8: 126,752,028 (GRCm39)	N211K	probably damaging	Het
Klb	T	C	5: 65,537,070 (GRCm39)	V800A	probably benign	Het
Lat2	T	C	5: 134,635,637 (GRCm39)	Y59C	probably damaging	Het
Mlkl	A	T	8: 112,054,433 (GRCm39)		probably benign	Het
Mroh2a	G	A	1: 88,171,672 (GRCm39)	R770Q	probably damaging	Het
Mtbp	T	A	15: 55,426,338 (GRCm39)	C93*	probably null	Het
Myo7a	A	G	7: 97,730,387 (GRCm39)		probably benign	Het
Myt1	G	A	2: 181,449,180 (GRCm39)		probably benign	Het
Ogfrl1	T	C	1: 23,414,835 (GRCm39)	Q224R	possibly damaging	Het
Or10j2	A	G	1: 173,098,569 (GRCm39)	T276A	probably benign	Het
Osbpl2	A	G	2: 179,792,083 (GRCm39)		probably benign	Het
Pira13	T	C	7: 3,824,781 (GRCm39)	T533A	possibly damaging	Het
Plb1	C	T	5: 32,442,264 (GRCm39)	T252M	possibly damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rbsn	T	C	6: 92,166,674 (GRCm39)	T657A	probably benign	Het
Rims4	C	T	2: 163,705,849 (GRCm39)	V262M	possibly damaging	Het
Rps6kb2	C	A	19: 4,207,882 (GRCm39)	S348I	probably benign	Het
Rsrp1	C	T	4: 134,651,568 (GRCm39)	R111W	unknown	Het
Ryr3	T	C	2: 112,563,327 (GRCm39)	T2933A	probably benign	Het
Scara5	A	G	14: 65,968,468 (GRCm39)	D247G	possibly damaging	Het
Slc7a11	C	T	3: 50,378,545 (GRCm39)	S231N	probably benign	Het
Sod2	A	T	17: 13,229,451 (GRCm39)	N91Y	probably damaging	Het
Spesp1	A	T	9: 62,179,967 (GRCm39)	S314T	probably benign	Het
St3gal1	C	A	15: 66,985,536 (GRCm39)	M39I	probably benign	Het
Stat6	A	T	10: 127,494,110 (GRCm39)	I646F	probably damaging	Het
Tdrd1	A	T	19: 56,854,410 (GRCm39)	K1119*	probably null	Het
Thbs2	A	G	17: 14,900,077 (GRCm39)	I600T	probably benign	Het
Tor1a	A	G	2: 30,853,850 (GRCm39)	V160A	probably damaging	Het
Trdmt1	T	G	2: 13,528,249 (GRCm39)	D104A	probably benign	Het
Trim58	T	C	11: 58,542,219 (GRCm39)	V393A	probably benign	Het
Trip4	C	T	9: 65,792,200 (GRCm39)		probably benign	Het
Trip6	T	C	5: 137,309,083 (GRCm39)	E341G	probably benign	Het
Ttn	T	A	2: 76,545,539 (GRCm39)	I32595F	probably damaging	Het
Ubr4	T	A	4: 139,155,339 (GRCm39)		probably null	Het
Ush2a	G	A	1: 188,596,890 (GRCm39)	V3877I	probably benign	Het
Vmn1r29	G	T	6: 58,284,717 (GRCm39)	G146C	probably damaging	Het
Vmn2r53	A	G	7: 12,315,707 (GRCm39)	V704A	probably benign	Het
Vmn2r7	C	T	3: 64,623,788 (GRCm39)	M268I	probably benign	Het
Wnt7b	G	A	15: 85,421,696 (GRCm39)	T248M	probably damaging	Het
Xab2	G	A	8: 3,663,649 (GRCm39)	P394S	possibly damaging	Het
Zfp663	A	G	2: 165,200,995 (GRCm39)	V13A	probably damaging	Het

Other mutations in Or56b2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01161:Or56b2	APN	7	104,337,588 (GRCm39)	missense	probably benign	0.00
IGL01578:Or56b2	APN	7	104,338,052 (GRCm39)	missense	probably benign	0.01
IGL01595:Or56b2	APN	7	104,337,285 (GRCm39)	missense	possibly damaging	0.78
IGL01732:Or56b2	APN	7	104,337,543 (GRCm39)	missense	possibly damaging	0.64
IGL02086:Or56b2	APN	7	104,337,634 (GRCm39)	missense	probably benign	0.38
IGL02421:Or56b2	APN	7	104,337,740 (GRCm39)	missense	probably benign	0.00
IGL02874:Or56b2	APN	7	104,337,230 (GRCm39)	missense	probably benign	0.16
IGL03120:Or56b2	APN	7	104,337,609 (GRCm39)	missense	probably benign	0.28
R1246:Or56b2	UTSW	7	104,337,371 (GRCm39)	missense	possibly damaging	0.69
R1654:Or56b2	UTSW	7	104,337,420 (GRCm39)	missense	probably benign	0.12
R1994:Or56b2	UTSW	7	104,337,690 (GRCm39)	missense	probably benign	0.12
R3686:Or56b2	UTSW	7	104,337,599 (GRCm39)	missense	probably benign	0.00
R5140:Or56b2	UTSW	7	104,338,107 (GRCm39)	missense	probably benign	0.01
R5627:Or56b2	UTSW	7	104,337,377 (GRCm39)	missense	probably benign	0.02
R6338:Or56b2	UTSW	7	104,337,378 (GRCm39)	missense	possibly damaging	0.53
R8810:Or56b2	UTSW	7	104,337,387 (GRCm39)	missense	probably damaging	0.97
R8954:Or56b2	UTSW	7	104,337,900 (GRCm39)	nonsense	probably null
R9261:Or56b2	UTSW	7	104,337,260 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCCATCAGAAATTTTGTGGCTCCC -3'
(R):5'- TTTGACATCCAGCCTGAGCACC -3'

Sequencing Primer
(F):5'- CTTGCCTGTGATGACAGGAAAATC -3'
(R):5'- ACATTGTGCAGCACGTTCAG -3'

Posted On

2013-09-03