Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01099:Or55b4'

51527

Institutional Source

Australian Phenomics Network (link to record)

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: 0.089) question?

Stock #

IGL01099

Quality Score

Status

Chromosome

Chromosomal Location

102133321-102137514 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 102133685 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 214 (D214V)

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: D214V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000051280
Gene: ENSMUSG00000043925
AA Change: D214V

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

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	G	A	11: 109,965,031 (GRCm39)		probably benign	Het
Adam28	A	G	14: 68,874,778 (GRCm39)		probably null	Het
Adcy10	A	G	1: 165,367,411 (GRCm39)	I560M	probably benign	Het
Alpl	G	A	4: 137,470,624 (GRCm39)		probably benign	Het
Ank1	G	A	8: 23,598,265 (GRCm39)	G753D	probably damaging	Het
Arhgef28	A	T	13: 98,090,480 (GRCm39)		probably benign	Het
Bmp7	A	T	2: 172,717,055 (GRCm39)	C329S	probably damaging	Het
Capn13	T	C	17: 73,658,504 (GRCm39)	D188G	probably damaging	Het
Car10	G	A	11: 93,469,516 (GRCm39)	E164K	possibly damaging	Het
Cfhr1	T	A	1: 139,475,497 (GRCm39)		probably benign	Het
Col11a1	C	T	3: 113,905,690 (GRCm39)	R562*	probably null	Het
Colec12	C	T	18: 9,848,826 (GRCm39)	R335C	probably damaging	Het
Cyb561d2	C	T	9: 107,417,488 (GRCm39)		probably null	Het
Epb41l3	A	G	17: 69,517,188 (GRCm39)	D72G	possibly damaging	Het
Etl4	T	C	2: 20,811,922 (GRCm39)	L1335P	probably benign	Het
F5	T	G	1: 164,021,903 (GRCm39)	N1459K	probably damaging	Het
Fam161a	T	C	11: 22,965,894 (GRCm39)		probably benign	Het
Flnc	G	A	6: 29,433,617 (GRCm39)	V54M	probably damaging	Het
Fndc3b	T	C	3: 27,517,966 (GRCm39)	I607V	probably benign	Het
Fscb	A	G	12: 64,518,875 (GRCm39)	S864P	unknown	Het
Glod4	T	A	11: 76,130,376 (GRCm39)	K36*	probably null	Het
Gm6619	G	A	6: 131,467,393 (GRCm39)	R86Q	possibly damaging	Het
Gm7052	T	C	17: 22,258,706 (GRCm39)		probably benign	Het
Gyg1	A	T	3: 20,205,211 (GRCm39)	M119K	probably benign	Het
Ifit2	A	T	19: 34,550,702 (GRCm39)	I81F	probably damaging	Het
Insr	T	C	8: 3,308,682 (GRCm39)	Y118C	probably damaging	Het
Katnip	T	A	7: 125,464,492 (GRCm39)	H1286Q	probably damaging	Het
Kcnh3	T	C	15: 99,137,617 (GRCm39)	S771P	probably benign	Het
Kndc1	C	A	7: 139,500,700 (GRCm39)	H688Q	probably damaging	Het
Mybpc2	A	G	7: 44,165,591 (GRCm39)	C330R	probably damaging	Het
Naa50	A	T	16: 43,976,832 (GRCm39)	N23I	probably damaging	Het
Nt5el	A	T	13: 105,245,868 (GRCm39)	H143L	probably benign	Het
Or5a1	A	G	19: 12,097,240 (GRCm39)	S279P	probably damaging	Het
Or8b48	T	C	9: 38,493,373 (GRCm39)	S267P	probably benign	Het
Or8c16	T	C	9: 38,131,039 (GRCm39)	S307P	probably benign	Het
Pfkp	A	T	13: 6,653,426 (GRCm39)		probably benign	Het
Phlda2	G	A	7: 143,055,876 (GRCm39)		probably null	Het
Plxnd1	C	A	6: 115,946,906 (GRCm39)	V823L	probably benign	Het
Prpf40a	T	A	2: 53,031,847 (GRCm39)	H794L	probably benign	Het
Ripor2	A	T	13: 24,885,190 (GRCm39)	H436L	probably benign	Het
Rnf138	T	A	18: 21,153,970 (GRCm39)	C159S	possibly damaging	Het
Scn7a	A	T	2: 66,514,582 (GRCm39)	V1064D	probably damaging	Het
Slc12a2	T	A	18: 58,039,092 (GRCm39)	C557*	probably null	Het
Slc1a6	T	C	10: 78,624,831 (GRCm39)	S79P	possibly damaging	Het
Snapin	G	A	3: 90,397,909 (GRCm39)		probably benign	Het
Tdp1	A	T	12: 99,881,704 (GRCm39)		probably benign	Het
Tigar	G	T	6: 127,065,108 (GRCm39)	A180E	probably benign	Het
Trav6-2	A	T	14: 52,905,122 (GRCm39)	T48S	probably benign	Het
Ttn	A	G	2: 76,558,776 (GRCm39)	Y29702H	probably damaging	Het
Ush1c	A	G	7: 45,854,686 (GRCm39)	S689P	probably damaging	Het
Vmn1r40	A	T	6: 89,691,578 (GRCm39)	I132F	probably damaging	Het
Vmn1r85	T	A	7: 12,818,461 (GRCm39)	K228*	probably null	Het
Wdr33	C	A	18: 32,039,842 (GRCm39)		probably benign	Het
Ybx2	A	T	11: 69,831,556 (GRCm39)	Q136L	probably damaging	Het
Ypel1	T	A	16: 16,909,076 (GRCm39)	M368L	probably damaging	Het

Other mutations in Or55b4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R9063:Or55b4	UTSW	7	102,133,931 (GRCm39)	missense	probably damaging	0.98
R9396:Or55b4	UTSW	7	102,134,180 (GRCm39)	missense	possibly damaging	0.95
R9698:Or55b4	UTSW	7	102,133,377 (GRCm39)	nonsense	probably null

Posted On

2013-06-21