Mutagenetix > Incidental Mutation

Incidental Mutation 'R0727:Or56b1b'

200643

Institutional Source

Beutler Lab

Gene Symbol

Or56b1b

Ensembl Gene

ENSMUSG00000060105

Gene Name

olfactory receptor family 56 subfamily B member 1B

Synonyms

MOR40-15, MOR40-7P, Olfr504, GA_x6K02T2PBJ9-10895499-10894543

MMRRC Submission

038909-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R0727 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108164044-108165000 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 108164315 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 229 (R229H)

Ref Sequence

ENSEMBL: ENSMUSP00000075025 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075595]

AlphaFold

Q7TRU7

Predicted Effect

probably benign
Transcript: ENSMUST00000075595
AA Change: R229H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000075025
Gene: ENSMUSG00000060105
AA Change: R229H

Domain	Start	End	E-Value	Type
Pfam:7tm_4	37	314	3.9e-70	PFAM
Pfam:7TM_GPCR_Srsx	40	311	5.1e-10	PFAM
Pfam:7tm_1	47	296	3.1e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207199

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207240

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.2%
20x: 92.1%

Validation Efficiency

99% (70/71)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr3b	T	C	5: 26,016,937 (GRCm39)	V83A	possibly damaging	Het
Adam2	A	G	14: 66,267,180 (GRCm39)	I693T	probably damaging	Het
Adamts1	T	C	16: 85,595,536 (GRCm39)	D214G	possibly damaging	Het
Atp6v1h	T	A	1: 5,154,781 (GRCm39)	Y36*	probably null	Het
Cacna1d	A	G	14: 29,852,072 (GRCm39)		probably null	Het
Catsperb	G	T	12: 101,560,614 (GRCm39)		probably null	Het
Ccdc88b	T	C	19: 6,831,582 (GRCm39)	M482V	probably benign	Het
Cemip	T	C	7: 83,610,786 (GRCm39)	K723E	probably benign	Het
Cep112	G	A	11: 108,397,380 (GRCm39)	R375H	probably damaging	Het
Cpne7	T	C	8: 123,853,025 (GRCm39)	S211P	probably damaging	Het
Csde1	A	G	3: 102,950,954 (GRCm39)	T191A	probably benign	Het
Dapk3	A	G	10: 81,026,096 (GRCm39)	Y129C	probably damaging	Het
Dlc1	A	G	8: 37,039,828 (GRCm39)	V1027A	probably damaging	Het
Ergic2	T	A	6: 148,100,898 (GRCm39)		probably benign	Het
Evpl	T	C	11: 116,123,311 (GRCm39)	H307R	probably damaging	Het
Faah	A	G	4: 115,862,257 (GRCm39)	I242T	probably damaging	Het
Farsa	T	A	8: 85,587,933 (GRCm39)		probably null	Het
Fat3	A	C	9: 15,907,995 (GRCm39)	L2669R	probably damaging	Het
Fgfr4	C	A	13: 55,304,041 (GRCm39)		probably null	Het
Gnl3	A	G	14: 30,739,034 (GRCm39)	S55P	probably damaging	Het
Grhl3	T	A	4: 135,273,565 (GRCm39)	K562N	possibly damaging	Het
H2bl1	A	G	13: 99,120,735 (GRCm39)	V97A	probably benign	Het
Hoxa9	A	G	6: 52,201,294 (GRCm39)	V249A	probably damaging	Het
Hyal1	T	C	9: 107,455,601 (GRCm39)	S304P	possibly damaging	Het
Igf1r	T	C	7: 67,861,906 (GRCm39)		probably null	Het
Kif3c	A	G	12: 3,416,776 (GRCm39)	T266A	probably benign	Het
Lrp1b	T	C	2: 40,640,956 (GRCm39)	D3496G	probably benign	Het
Man2b1	T	G	8: 85,818,155 (GRCm39)	V442G	probably damaging	Het
Mast1	T	C	8: 85,648,044 (GRCm39)	Y479C	probably damaging	Het
Mei1	A	G	15: 81,954,350 (GRCm39)	T52A	probably benign	Het
Micall1	A	G	15: 79,004,978 (GRCm39)	D150G	probably benign	Het
Muc4	A	G	16: 32,590,221 (GRCm39)	M2927V	probably benign	Het
Obi1	G	C	14: 104,717,624 (GRCm39)	L250V	probably damaging	Het
Or11h6	G	T	14: 50,880,460 (GRCm39)	V241L	probably damaging	Het
Or5an10	T	C	19: 12,276,458 (GRCm39)	I13V	probably benign	Het
Or5w22	T	A	2: 87,363,245 (GRCm39)	Y289*	probably null	Het
Or8k27	T	C	2: 86,276,282 (GRCm39)	M15V	probably benign	Het
Or8k35	A	T	2: 86,424,724 (GRCm39)	Y149*	probably null	Het
Pabpc2	A	C	18: 39,908,187 (GRCm39)	Q484P	probably benign	Het
Pbld2	T	A	10: 62,903,298 (GRCm39)	V125D	probably benign	Het
Pkhd1l1	A	G	15: 44,399,184 (GRCm39)	T2083A	possibly damaging	Het
Pum2	A	G	12: 8,794,465 (GRCm39)	E785G	probably damaging	Het
Qser1	A	G	2: 104,607,656 (GRCm39)		probably benign	Het
R3hcc1l	A	G	19: 42,564,514 (GRCm39)	D29G	probably damaging	Het
Rabep1	T	A	11: 70,791,318 (GRCm39)	Y180*	probably null	Het
Rassf5	T	C	1: 131,109,002 (GRCm39)	S140G	probably damaging	Het
Rbpms2	ACTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGCTGC	9: 65,558,948 (GRCm39)		probably benign	Het
Resf1	A	G	6: 149,227,320 (GRCm39)	N122S	possibly damaging	Het
Rfpl4	T	A	7: 5,118,292 (GRCm39)	I93L	probably benign	Het
Ryr2	C	T	13: 11,581,771 (GRCm39)	G4798D	probably damaging	Het
Scaf11	G	A	15: 96,317,324 (GRCm39)	P747S	probably damaging	Het
Sgo2b	T	G	8: 64,380,816 (GRCm39)	K672T	probably damaging	Het
Smg1	T	C	7: 117,765,645 (GRCm39)		probably benign	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Ssh3	G	T	19: 4,314,019 (GRCm39)	H439Q	probably damaging	Het
Steap3	T	A	1: 120,155,547 (GRCm39)	T471S	possibly damaging	Het
Stk33	T	A	7: 108,920,725 (GRCm39)	I208L	probably damaging	Het
Sucnr1	A	G	3: 59,994,081 (GRCm39)	Y203C	probably benign	Het
Tlr11	T	C	14: 50,598,926 (GRCm39)	I304T	possibly damaging	Het
Top2a	A	T	11: 98,902,974 (GRCm39)	C404*	probably null	Het
Trim43a	G	A	9: 88,464,199 (GRCm39)	E37K	probably benign	Het
Zcwpw1	T	C	5: 137,809,069 (GRCm39)		probably benign	Het
Zfhx4	A	T	3: 5,466,133 (GRCm39)	H2097L	probably damaging	Het
Zfp874b	T	C	13: 67,622,831 (GRCm39)	K156E	probably damaging	Het
Zfyve16	T	C	13: 92,630,386 (GRCm39)	K1413E	possibly damaging	Het

Other mutations in Or56b1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01358:Or56b1b	APN	7	108,164,409 (GRCm39)	missense	probably benign	0.02
IGL01447:Or56b1b	APN	7	108,164,216 (GRCm39)	missense	possibly damaging	0.75
IGL01845:Or56b1b	APN	7	108,164,343 (GRCm39)	missense	possibly damaging	0.76
IGL02110:Or56b1b	APN	7	108,164,286 (GRCm39)	missense	probably damaging	1.00
IGL03196:Or56b1b	APN	7	108,164,061 (GRCm39)	missense	probably benign
R0282:Or56b1b	UTSW	7	108,164,684 (GRCm39)	missense	probably damaging	1.00
R0359:Or56b1b	UTSW	7	108,164,721 (GRCm39)	missense	probably benign	0.01
R0514:Or56b1b	UTSW	7	108,164,879 (GRCm39)	missense	probably damaging	1.00
R0744:Or56b1b	UTSW	7	108,164,205 (GRCm39)	missense	possibly damaging	0.57
R0836:Or56b1b	UTSW	7	108,164,205 (GRCm39)	missense	possibly damaging	0.57
R0840:Or56b1b	UTSW	7	108,164,823 (GRCm39)	missense	probably benign	0.00
R0883:Or56b1b	UTSW	7	108,164,483 (GRCm39)	missense	probably benign	0.01
R1750:Or56b1b	UTSW	7	108,164,564 (GRCm39)	nonsense	probably null
R1827:Or56b1b	UTSW	7	108,164,282 (GRCm39)	missense	probably benign	0.35
R1933:Or56b1b	UTSW	7	108,164,730 (GRCm39)	missense	possibly damaging	0.57
R3004:Or56b1b	UTSW	7	108,164,151 (GRCm39)	missense	probably benign	0.42
R3766:Or56b1b	UTSW	7	108,164,402 (GRCm39)	missense	probably benign	0.00
R5179:Or56b1b	UTSW	7	108,164,433 (GRCm39)	missense	probably benign
R5408:Or56b1b	UTSW	7	108,164,376 (GRCm39)	missense	probably damaging	0.99
R5493:Or56b1b	UTSW	7	108,164,774 (GRCm39)	missense	probably benign	0.24
R5569:Or56b1b	UTSW	7	108,164,772 (GRCm39)	missense	probably benign	0.01
R6520:Or56b1b	UTSW	7	108,164,046 (GRCm39)	makesense	probably null
R6798:Or56b1b	UTSW	7	108,164,967 (GRCm39)	nonsense	probably null
R6803:Or56b1b	UTSW	7	108,164,620 (GRCm39)	missense	probably damaging	1.00
R7242:Or56b1b	UTSW	7	108,164,919 (GRCm39)	missense	probably benign	0.03
R7559:Or56b1b	UTSW	7	108,164,763 (GRCm39)	missense	probably damaging	0.99
R7644:Or56b1b	UTSW	7	108,164,649 (GRCm39)	missense	possibly damaging	0.78
R8498:Or56b1b	UTSW	7	108,164,833 (GRCm39)	nonsense	probably null
R8970:Or56b1b	UTSW	7	108,164,997 (GRCm39)	missense	probably benign	0.00
R9014:Or56b1b	UTSW	7	108,164,882 (GRCm39)	missense	possibly damaging	0.63
R9093:Or56b1b	UTSW	7	108,164,454 (GRCm39)	missense	probably damaging	1.00
R9103:Or56b1b	UTSW	7	108,164,780 (GRCm39)	missense	probably benign	0.02
R9548:Or56b1b	UTSW	7	108,164,334 (GRCm39)	missense	possibly damaging	0.75

Predicted Primers

PCR Primer
(F):5'- TTTGGAAGCCCTGCCTGAGTTG -3'
(R):5'- AGCCACACTGTTTATGGTGCTGAG -3'

Sequencing Primer
(F):5'- GTCTGGTCCTAAGTGCATACAC -3'
(R):5'- GCATCCCAGTGGAATTATTGTTC -3'

Posted On

2014-05-23