Mutagenetix > Incidental Mutation

Incidental Mutation 'R0744:Or56b1b'

70850

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

038925-MU

Accession Numbers

Essential gene?

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

Stock #

R0744 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108164044-108165000 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 108164205 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 266 (T266A)

Ref Sequence

ENSEMBL: ENSMUSP00000075025 (fasta)

Gene Model

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

AlphaFold

Q7TRU7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000075595
AA Change: T266A

PolyPhen 2 Score 0.572 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000075025
Gene: ENSMUSG00000060105
AA Change: T266A

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

0.3321

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 94.8%

Validation Efficiency

98% (91/93)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	T	C	10: 87,000,931 (GRCm39)	L41P	probably damaging	Het
A930003A15Rik	T	C	16: 19,702,622 (GRCm39)		noncoding transcript	Het
Abca8a	A	T	11: 109,931,390 (GRCm39)	D1253E	possibly damaging	Het
Acsm3	T	C	7: 119,376,323 (GRCm39)	I350T	possibly damaging	Het
Adcy9	T	C	16: 4,237,135 (GRCm39)	D92G	possibly damaging	Het
Aebp2	T	G	6: 140,588,090 (GRCm39)		probably null	Het
AI987944	T	C	7: 41,026,283 (GRCm39)	Y6C	probably damaging	Het
Ascc3	T	C	10: 50,721,762 (GRCm39)	W2072R	probably benign	Het
Asxl3	A	G	18: 22,649,097 (GRCm39)	D362G	probably damaging	Het
Baiap2l1	T	A	5: 144,203,451 (GRCm39)	D479V	probably benign	Het
Bdp1	A	T	13: 100,172,333 (GRCm39)	H2094Q	probably benign	Het
Bptf	C	A	11: 107,001,638 (GRCm39)		probably null	Het
Camk4	G	T	18: 33,072,507 (GRCm39)	S20I	unknown	Het
Ccdc85a	T	A	11: 28,533,296 (GRCm39)	I83F	probably damaging	Het
Ccnt2	T	A	1: 127,730,131 (GRCm39)	M336K	probably benign	Het
Cd209e	G	T	8: 3,903,205 (GRCm39)	D62E	probably benign	Het
Cd226	A	C	18: 89,225,144 (GRCm39)		probably benign	Het
Clip1	T	C	5: 123,768,784 (GRCm39)	D605G	probably benign	Het
Crtc1	A	G	8: 70,845,663 (GRCm39)	V306A	probably benign	Het
D130043K22Rik	G	A	13: 25,047,563 (GRCm39)		probably benign	Het
Dmxl1	T	C	18: 49,966,215 (GRCm39)	V20A	probably damaging	Het
Dzip3	A	G	16: 48,780,038 (GRCm39)	Y301H	probably damaging	Het
Ephb4	T	A	5: 137,363,929 (GRCm39)	N600K	probably damaging	Het
Erich6	T	A	3: 58,543,543 (GRCm39)		probably benign	Het
Fbn1	T	C	2: 125,156,734 (GRCm39)		probably benign	Het
Fryl	A	T	5: 73,246,424 (GRCm39)		probably benign	Het
Galnt17	T	A	5: 131,179,754 (GRCm39)	D131V	probably damaging	Het
Gm6619	T	A	6: 131,467,297 (GRCm39)	L54Q	probably damaging	Het
Herc2	T	C	7: 55,855,784 (GRCm39)		probably benign	Het
Hic1	T	A	11: 75,056,627 (GRCm39)	Q754L	possibly damaging	Het
Hnf4g	A	T	3: 3,716,689 (GRCm39)	D286V	possibly damaging	Het
Iho1	A	T	9: 108,282,000 (GRCm39)	C563S	probably benign	Het
Itgb5	A	G	16: 33,720,953 (GRCm39)	K339R	probably damaging	Het
Itih1	A	T	14: 30,663,512 (GRCm39)	V164E	probably damaging	Het
Jak3	A	C	8: 72,136,622 (GRCm39)	N643T	probably damaging	Het
Lamp1	T	A	8: 13,222,654 (GRCm39)	F279L	probably damaging	Het
Lrfn5	A	C	12: 61,886,454 (GRCm39)	T81P	probably damaging	Het
Lrrc58	A	G	16: 37,698,935 (GRCm39)		probably benign	Het
Marchf6	T	C	15: 31,480,437 (GRCm39)	Y562C	probably benign	Het
Mark1	T	A	1: 184,653,805 (GRCm39)	I166F	probably damaging	Het
Mark2	A	G	19: 7,263,189 (GRCm39)	Y193H	probably damaging	Het
Mast4	C	G	13: 102,873,895 (GRCm39)	Q1632H	probably damaging	Het
Mcrs1	T	C	15: 99,141,330 (GRCm39)		probably benign	Het
Mgst3	A	G	1: 167,201,374 (GRCm39)	Y104H	probably damaging	Het
Mlxipl	C	T	5: 135,161,329 (GRCm39)	T416I	possibly damaging	Het
Mthfd2l	T	C	5: 91,094,801 (GRCm39)	V90A	probably damaging	Het
Mtnr1a	A	T	8: 45,540,974 (GRCm39)	I312F	probably benign	Het
Muc1	C	A	3: 89,137,635 (GRCm39)	P159Q	possibly damaging	Het
Myom2	A	T	8: 15,182,924 (GRCm39)	K1454*	probably null	Het
Myt1	TGAGGAGGAGGAGGAGGAGG	TGAGGAGGAGGAGGAGG	2: 181,439,298 (GRCm39)		probably benign	Het
Or10g3b	T	C	14: 52,586,835 (GRCm39)	I223V	probably benign	Het
Or2t29	T	A	11: 58,433,988 (GRCm39)	M105L	possibly damaging	Het
Or52ae9	T	C	7: 103,390,132 (GRCm39)	H105R	probably damaging	Het
Or8b1c	A	T	9: 38,384,081 (GRCm39)	I13F	probably benign	Het
Pdcd6	A	G	13: 74,464,443 (GRCm39)		probably benign	Het
Ppp1r16a	C	T	15: 76,577,869 (GRCm39)	Q328*	probably null	Het
Pramel23	A	T	4: 143,425,056 (GRCm39)	M129K	probably benign	Het
Pzp	A	G	6: 128,493,158 (GRCm39)		probably benign	Het
Rab27b	T	C	18: 70,120,112 (GRCm39)		probably benign	Het
Rapgef3	G	A	15: 97,659,466 (GRCm39)		probably benign	Het
Rapsn	T	C	2: 90,867,153 (GRCm39)	Y152H	probably damaging	Het
Rgs11	T	A	17: 26,422,292 (GRCm39)	M29K	probably damaging	Het
Rictor	A	G	15: 6,793,759 (GRCm39)		probably null	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rims1	T	C	1: 22,497,709 (GRCm39)		probably null	Het
Samd9l	T	C	6: 3,372,725 (GRCm39)	E1512G	possibly damaging	Het
Sgsm1	C	T	5: 113,427,050 (GRCm39)	A127T	probably benign	Het
Slc22a28	T	C	19: 8,094,197 (GRCm39)	Y245C	possibly damaging	Het
Slc25a1	T	A	16: 17,745,300 (GRCm39)	H78L	probably benign	Het
Slc26a1	T	A	5: 108,821,389 (GRCm39)	T167S	probably benign	Het
Slc2a12	T	C	10: 22,577,915 (GRCm39)		probably benign	Het
Slc44a5	T	C	3: 153,971,111 (GRCm39)	S654P	probably damaging	Het
Slc51a	T	A	16: 32,294,667 (GRCm39)	T306S	probably benign	Het
Slc6a13	T	G	6: 121,279,826 (GRCm39)	W67G	probably damaging	Het
Sowahc	GGGAGGAGGAGGAGGAGGAGGAGGAGGA	GGGAGGAGGAGGAGGAGGAGGAGGA	10: 59,059,313 (GRCm39)		probably benign	Het
Sp100	A	T	1: 85,627,465 (GRCm39)	I86L	probably damaging	Het
Spata31e5	A	G	1: 28,816,902 (GRCm39)	S377P	possibly damaging	Het
Supt20	T	A	3: 54,622,122 (GRCm39)	Y409N	probably damaging	Het
Synrg	C	T	11: 83,915,131 (GRCm39)	Q1046*	probably null	Het
Tab2	T	C	10: 7,783,345 (GRCm39)		probably benign	Het
Tcof1	T	C	18: 60,978,904 (GRCm39)	D48G	probably damaging	Het
Tex24	A	T	8: 27,834,748 (GRCm39)	H92L	possibly damaging	Het
Tgm6	T	C	2: 129,993,681 (GRCm39)	V640A	probably benign	Het
Tle2	T	C	10: 81,424,781 (GRCm39)	F667L	probably damaging	Het
Tnfaip3	C	A	10: 18,878,697 (GRCm39)	A704S	probably benign	Het
Tomm34	T	C	2: 163,912,896 (GRCm39)	N22D	probably benign	Het
Trabd2b	A	G	4: 114,437,519 (GRCm39)	Q232R	probably benign	Het
Trim62	A	G	4: 128,778,008 (GRCm39)	S16G	probably damaging	Het
Ttc28	T	A	5: 111,378,947 (GRCm39)	I1144N	probably damaging	Het
Unc5a	C	A	13: 55,151,746 (GRCm39)	N56K	possibly damaging	Het
Ush2a	C	T	1: 188,546,603 (GRCm39)		probably benign	Het
Wrn	A	G	8: 33,785,034 (GRCm39)	I446T	possibly damaging	Het
Zbed5	T	A	5: 129,931,113 (GRCm39)	V354E	possibly damaging	Het
Zfp266	G	A	9: 20,411,095 (GRCm39)	H361Y	probably 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
R0727:Or56b1b	UTSW	7	108,164,315 (GRCm39)	missense	probably benign	0.00
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'- GAAGGCACTTCAATTCCCCTCCATC -3'
(R):5'- TTGCCTGTGCTCTAACCTTGGAATC -3'

Sequencing Primer
(F):5'- GCTACCATACATTTAGGAGATGCTG -3'
(R):5'- CAAGCCTGGCATGTGATGAC -3'

Posted On

2013-09-30