Mutagenetix > Incidental Mutation

Incidental Mutation 'R9063:Or55b4'

689085

Institutional Source

Beutler Lab

Gene Symbol

Or55b4

Ensembl Gene

ENSMUSG00000043925

Gene Name

olfactory receptor family 55 subfamily B member 4

Synonyms

Olfr544, MOR42-3, GA_x6K02T2PBJ9-5206624-5205620

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R9063 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

102133321-102137514 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 102133931 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 132 (Y132C)

Ref Sequence

ENSEMBL: ENSMUSP00000051280 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051201] [ENSMUST00000219647]

AlphaFold

E9PX47

Predicted Effect

probably damaging
Transcript: ENSMUST00000051201
AA Change: Y132C

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000051280
Gene: ENSMUSG00000043925
AA Change: Y132C

Domain	Start	End	E-Value	Type
Pfam:7tm_4	35	314	1.2e-73	PFAM
Pfam:7TM_GPCR_Srsx	39	311	6.3e-8	PFAM
Pfam:7tm_1	45	296	2.4e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000219647

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110004F10Rik	T	G	7: 115,703,660 (GRCm39)	S178A	probably benign	Het
Add3	T	C	19: 53,222,302 (GRCm39)	L303P	probably damaging	Het
Agr2	T	A	12: 36,053,898 (GRCm39)	*176K	probably null	Het
Apobr	C	T	7: 126,185,920 (GRCm39)	T477I	probably benign	Het
Cdca7l	G	A	12: 117,838,536 (GRCm39)	V336M	probably damaging	Het
Cep63	T	G	9: 102,496,227 (GRCm39)	H18P	unknown	Het
Copa	A	G	1: 171,944,529 (GRCm39)	D838G	probably benign	Het
Cspg4	G	T	9: 56,795,687 (GRCm39)	V1141L	probably benign	Het
D930020B18Rik	A	G	10: 121,497,002 (GRCm39)	T146A	probably benign	Het
Dapk1	A	T	13: 60,866,264 (GRCm39)	I206L	probably benign	Het
Emsy	C	T	7: 98,295,684 (GRCm39)	D73N	probably damaging	Het
Esr2	A	T	12: 76,168,590 (GRCm39)	Y540N	probably benign	Het
Exoc7	C	A	11: 116,180,101 (GRCm39)	V668L	probably benign	Het
Fcgbp	C	T	7: 27,791,277 (GRCm39)	T846I	probably damaging	Het
Fhod3	A	G	18: 25,153,772 (GRCm39)	E418G	probably damaging	Het
Fryl	G	A	5: 73,238,346 (GRCm39)	R1467C	possibly damaging	Het
Gas2l3	A	G	10: 89,249,558 (GRCm39)	I520T	probably benign	Het
Gfod1	A	G	13: 43,354,280 (GRCm39)	C232R	probably benign	Het
Gpr61	T	C	3: 108,057,555 (GRCm39)	R369G	probably benign	Het
Hk1	T	C	10: 62,122,429 (GRCm39)	Y423C	probably damaging	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Jmy	T	C	13: 93,635,580 (GRCm39)	R79G	probably benign	Het
Kcnn4	T	A	7: 24,076,934 (GRCm39)	V161E	probably damaging	Het
Kif15	T	A	9: 122,833,706 (GRCm39)	I1040N	probably damaging	Het
Kif2b	A	G	11: 91,466,654 (GRCm39)	L543S	probably damaging	Het
Kpna2	A	G	11: 106,883,489 (GRCm39)	I81T	probably benign	Het
Krt12	A	G	11: 99,307,757 (GRCm39)	S444P	probably benign	Het
Lmnb2	C	T	10: 80,742,005 (GRCm39)	V29M	probably benign	Het
Lmod2	T	C	6: 24,603,364 (GRCm39)	V113A	probably benign	Het
Lrp1b	T	C	2: 41,231,838 (GRCm39)	T1211A		Het
Lrrc8d	T	C	5: 105,961,959 (GRCm39)	S790P	probably damaging	Het
Map3k4	A	G	17: 12,482,878 (GRCm39)	V613A	probably damaging	Het
Marveld2	T	C	13: 100,748,653 (GRCm39)	N142S	probably benign	Het
Mgll	G	A	6: 88,802,690 (GRCm39)	V282I	possibly damaging	Het
Mief2	G	A	11: 60,622,314 (GRCm39)	E295K	probably damaging	Het
Mmrn2	A	T	14: 34,120,567 (GRCm39)	H479L	probably benign	Het
Myh15	T	A	16: 48,913,118 (GRCm39)	N358K	probably benign	Het
Mzf1	T	G	7: 12,787,005 (GRCm39)	K101Q	probably damaging	Het
Ncbp3	T	A	11: 72,964,253 (GRCm39)	L401Q	probably damaging	Het
Nck2	T	C	1: 43,593,503 (GRCm39)	C237R	possibly damaging	Het
Nlrp9a	T	G	7: 26,273,291 (GRCm39)	N976K	possibly damaging	Het
Nol11	A	G	11: 107,064,240 (GRCm39)	V524A	probably benign	Het
Nol11	T	C	11: 107,069,857 (GRCm39)	Y331C	possibly damaging	Het
Nsmf	A	T	2: 24,952,622 (GRCm39)	H149L	probably benign	Het
Olfm3	T	C	3: 114,914,582 (GRCm39)	V231A	probably benign	Het
Or1l4b	A	T	2: 37,036,646 (GRCm39)	M141L	probably benign	Het
Or51a6	A	G	7: 102,604,446 (GRCm39)	S121P	probably benign	Het
Pcdhgb5	T	A	18: 37,864,739 (GRCm39)	F178Y	probably damaging	Het
Plk2	T	A	13: 110,532,920 (GRCm39)	S160R	possibly damaging	Het
Plk5	C	G	10: 80,193,830 (GRCm39)	R40G	probably damaging	Het
Ppp1cc	A	G	5: 122,306,279 (GRCm39)	N33D	probably benign	Het
Ptpn23	T	C	9: 110,218,693 (GRCm39)	E499G	possibly damaging	Het
Pwp1	A	G	10: 85,720,431 (GRCm39)	H356R	probably benign	Het
Rbsn	G	T	6: 92,171,000 (GRCm39)	T307K	probably benign	Het
Rnf19a	G	A	15: 36,265,615 (GRCm39)	Q161*	probably null	Het
Scin	T	C	12: 40,134,336 (GRCm39)	D236G	possibly damaging	Het
Setd1a	G	A	7: 127,385,558 (GRCm39)	R755H	possibly damaging	Het
Sik3	C	T	9: 46,123,735 (GRCm39)	T1178I	probably benign	Het
Slc49a3	A	G	5: 108,590,103 (GRCm39)	L433P	probably damaging	Het
Tex26	C	T	5: 149,393,826 (GRCm39)	R272C	probably damaging	Het
Trim60	T	A	8: 65,453,465 (GRCm39)	K261N	possibly damaging	Het
Tspan9	A	G	6: 127,944,072 (GRCm39)	I76T	probably damaging	Het
Ttn	T	A	2: 76,588,833 (GRCm39)	Y21412F	probably damaging	Het
Ttn	A	T	2: 76,710,907 (GRCm39)	I8409N	unknown	Het
Unc80	T	C	1: 66,645,816 (GRCm39)		probably null	Het
Ush2a	A	T	1: 187,995,457 (GRCm39)	Q76L	probably benign	Het
Usp1	G	A	4: 98,819,389 (GRCm39)	V284I	probably benign	Het
Usp31	A	G	7: 121,306,466 (GRCm39)	V4A	probably benign	Het
Vmn2r88	G	A	14: 51,648,329 (GRCm39)		probably benign	Het
Zfp959	G	A	17: 56,204,221 (GRCm39)	R86K	probably benign	Het

Other mutations in Or55b4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01099:Or55b4	APN	7	102,133,685 (GRCm39)	missense	probably damaging	1.00
IGL01380:Or55b4	APN	7	102,133,592 (GRCm39)	missense	probably damaging	1.00
IGL01594:Or55b4	APN	7	102,134,254 (GRCm39)	missense	probably benign
R0732:Or55b4	UTSW	7	102,133,650 (GRCm39)	missense	probably benign	0.15
R1061:Or55b4	UTSW	7	102,133,321 (GRCm39)	makesense	probably null
R1387:Or55b4	UTSW	7	102,133,911 (GRCm39)	missense	probably benign	0.01
R2760:Or55b4	UTSW	7	102,133,583 (GRCm39)	missense	probably damaging	1.00
R5151:Or55b4	UTSW	7	102,134,192 (GRCm39)	missense	probably benign	0.00
R5916:Or55b4	UTSW	7	102,133,586 (GRCm39)	missense	probably damaging	1.00
R6084:Or55b4	UTSW	7	102,133,596 (GRCm39)	missense	probably damaging	1.00
R7069:Or55b4	UTSW	7	102,133,979 (GRCm39)	missense	possibly damaging	0.85
R7195:Or55b4	UTSW	7	102,133,574 (GRCm39)	missense	probably damaging	1.00
R7738:Or55b4	UTSW	7	102,133,818 (GRCm39)	missense	probably damaging	0.99
R8299:Or55b4	UTSW	7	102,133,409 (GRCm39)	missense	probably benign	0.01
R8433:Or55b4	UTSW	7	102,133,991 (GRCm39)	missense	probably benign	0.00
R9396:Or55b4	UTSW	7	102,134,180 (GRCm39)	missense	possibly damaging	0.95
R9698:Or55b4	UTSW	7	102,133,377 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GAGTCCCACCGTCTTATTCAG -3'
(R):5'- CTGGCTGTCAATATCTGCGC -3'

Sequencing Primer
(F):5'- ACCGTCTTATTCAGCGAGATG -3'
(R):5'- GTCAATATCTGCGCTGCCAC -3'

Posted On

2021-11-19