Mutagenetix > Incidental Mutation

Incidental Mutation 'R9548:Or56b1b'

720241

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

Accession Numbers

Essential gene?

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

Stock #

R9548 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

108164044-108165000 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 108164334 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 223 (S223T)

Ref Sequence

ENSEMBL: ENSMUSP00000075025 (fasta)

Gene Model

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

AlphaFold

Q7TRU7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000075595
AA Change: S223T

PolyPhen 2 Score 0.753 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000075025
Gene: ENSMUSG00000060105
AA Change: S223T

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.5%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankfy1	G	A	11: 72,641,005 (GRCm39)		probably null	Het
Arid1b	A	G	17: 5,385,262 (GRCm39)	Y1340C	probably damaging	Het
Bcl2	C	A	1: 106,640,508 (GRCm39)	A35S	probably benign	Het
Brf2	A	T	8: 27,614,623 (GRCm39)	S188T	probably benign	Het
Carmil1	C	A	13: 24,460,516 (GRCm39)	G21V	probably damaging	Het
Cavin4	T	C	4: 48,663,956 (GRCm39)	V112A	probably benign	Het
Cd300lf	T	C	11: 115,007,858 (GRCm39)	E319G	probably benign	Het
Cd44	A	T	2: 102,661,832 (GRCm39)	D587E	possibly damaging	Het
Cfap53	A	T	18: 74,438,040 (GRCm39)	T239S	possibly damaging	Het
Cma2	A	C	14: 56,211,256 (GRCm39)	I239L	probably damaging	Het
Cnot1	A	T	8: 96,482,854 (GRCm39)	M733K	probably benign	Het
Cyp2f2	A	G	7: 26,829,170 (GRCm39)	D225G	probably benign	Het
Cyp4f40	G	A	17: 32,890,158 (GRCm39)	R276H	probably benign	Het
Cytip	A	T	2: 58,041,141 (GRCm39)	F88L	probably damaging	Het
Dnaaf2	T	C	12: 69,244,776 (GRCm39)	N95S	probably damaging	Het
Dnah5	C	A	15: 28,328,025 (GRCm39)	T2133K	possibly damaging	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 72,684,217 (GRCm39)		probably benign	Het
Elapor2	G	A	5: 9,490,859 (GRCm39)	G623D	probably damaging	Het
Epn2	A	T	11: 61,436,988 (GRCm39)	S195T	probably benign	Het
Exoc3	A	T	13: 74,330,285 (GRCm39)	Y521N	possibly damaging	Het
Fbxo10	C	A	4: 45,058,970 (GRCm39)	V256L	probably damaging	Het
Fis1	A	T	5: 136,991,907 (GRCm39)	T34S	probably benign	Het
Gm10309	A	T	17: 86,806,161 (GRCm39)	C118S	unknown	Het
Grip1	G	A	10: 119,874,569 (GRCm39)	E778K	possibly damaging	Het
Hook1	T	A	4: 95,891,808 (GRCm39)	V340E	probably damaging	Het
Ifng	C	A	10: 118,277,128 (GRCm39)	H23Q	probably benign	Het
Lect2	C	T	13: 56,694,660 (GRCm39)	E32K	probably benign	Het
Lrp1	T	G	10: 127,388,733 (GRCm39)	T3239P	probably damaging	Het
Lrrc14b	T	A	13: 74,511,996 (GRCm39)	Y28F	probably benign	Het
Maml3	A	T	3: 51,763,791 (GRCm39)	V391E	possibly damaging	Het
Map3k8	C	T	18: 4,349,141 (GRCm39)	R59H	probably benign	Het
Med1	G	T	11: 98,070,884 (GRCm39)	L120I	possibly damaging	Het
Muc5b	C	A	7: 141,421,648 (GRCm39)	H4349N	possibly damaging	Het
Myo1h	C	T	5: 114,499,154 (GRCm39)	P110S	probably benign	Het
Nol10	T	G	12: 17,466,144 (GRCm39)	I513S	possibly damaging	Het
Nphs1	C	T	7: 30,180,875 (GRCm39)	S1093F	probably benign	Het
Or12e10	A	T	2: 87,641,097 (GRCm39)	N311I	probably damaging	Het
Or4b1b	T	C	2: 90,111,991 (GRCm39)	*309W	probably null	Het
Or5p72	A	T	7: 108,022,416 (GRCm39)	T213S	possibly damaging	Het
Or5w8	A	T	2: 87,688,040 (GRCm39)	I174F	probably damaging	Het
Pcdh17	A	T	14: 84,685,402 (GRCm39)	Y623F	possibly damaging	Het
Pdzd8	T	A	19: 59,289,826 (GRCm39)	I525F	probably benign	Het
Peak1	G	T	9: 56,113,917 (GRCm39)	Q1675K	probably benign	Het
Perm1	T	C	4: 156,302,290 (GRCm39)	V278A	probably benign	Het
Ppp2r5d	G	A	17: 46,998,527 (GRCm39)	R115C	probably damaging	Het
Rnf169	A	T	7: 99,574,690 (GRCm39)	L635Q	probably damaging	Het
Sacs	A	G	14: 61,440,692 (GRCm39)	T913A	probably benign	Het
Sh3bp1	A	T	15: 78,788,673 (GRCm39)	I233F	possibly damaging	Het
Skint9	T	G	4: 112,276,346 (GRCm39)	L8F	probably benign	Het
Slc1a4	A	T	11: 20,258,041 (GRCm39)	N360K	probably damaging	Het
Slc22a16	T	A	10: 40,460,865 (GRCm39)	Y243*	probably null	Het
Slc22a19	C	A	19: 7,659,219 (GRCm39)		probably null	Het
Smarcal1	T	C	1: 72,671,999 (GRCm39)	I840T	possibly damaging	Het
Spata13	A	G	14: 60,991,303 (GRCm39)	K1019E	possibly damaging	Het
Steap1	A	G	5: 5,790,700 (GRCm39)	S83P	possibly damaging	Het
Synj2bp	T	C	12: 81,551,382 (GRCm39)	H78R	probably damaging	Het
Tcstv7a	T	A	13: 120,289,924 (GRCm39)	I91F	probably benign	Het
Tjp3	T	C	10: 81,113,833 (GRCm39)	E475G	probably damaging	Het
Top3a	A	G	11: 60,644,768 (GRCm39)	V312A	probably benign	Het
Traip	C	A	9: 107,833,099 (GRCm39)	T45N	probably damaging	Het
Ttn	T	C	2: 76,573,691 (GRCm39)	Y25734C	probably damaging	Het
Unc79	T	A	12: 102,977,495 (GRCm39)	V166D	probably damaging	Het
Urgcp	C	A	11: 5,667,622 (GRCm39)	V282F	possibly damaging	Het
Vmn1r184	G	A	7: 25,966,734 (GRCm39)	S160N	probably benign	Het
Wdfy3	T	C	5: 102,033,059 (GRCm39)	D2231G	probably damaging	Het
Zan	C	T	5: 137,401,323 (GRCm39)	G4132D	unknown	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
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

Predicted Primers

PCR Primer
(F):5'- ATCACATTGAGCAAAACTGGG -3'
(R):5'- AGCCACACTGTTTATGGTGC -3'

Sequencing Primer
(F):5'- ACTGGGATCAAGGTGGCC -3'
(R):5'- CACACTGTTTATGGTGCTGAGAAATG -3'

Posted On

2022-07-18