Mutagenetix > Incidental Mutation

Incidental Mutation 'R1927:Or55b10'

214950

Institutional Source

Beutler Lab

Gene Symbol

Or55b10

Ensembl Gene

ENSMUSG00000044824

Gene Name

olfactory receptor family 55 subfamily B member 10

Synonyms

S50, GA_x6K02T2PBJ9-5216160-5215210, MOR42-1, Olfr545

MMRRC Submission

039945-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.145) question?

Stock #

R1927 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

102143030-102143980 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 102143266 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 239 (S239P)

Ref Sequence

ENSEMBL: ENSMUSP00000150232 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058750] [ENSMUST00000216116]

AlphaFold

Q9WU94

Predicted Effect

possibly damaging
Transcript: ENSMUST00000058750
AA Change: S239P

PolyPhen 2 Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000052396
Gene: ENSMUSG00000044824
AA Change: S239P

Domain	Start	End	E-Value	Type
Pfam:7tm_4	35	314	1.8e-73	PFAM
Pfam:7TM_GPCR_Srsx	39	311	4.3e-8	PFAM
Pfam:7tm_1	45	296	4.6e-15	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211697
AA Change: S239P

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216116
AA Change: S239P

PolyPhen 2 Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217464

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.5%

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]
PHENOTYPE: Mice carrying a knock-out allele display a normal pattern of axonal projections to a large subset of glomeruli in the dorsal-medial and anterior-medial olfactory bulb, but also show abnormal innervation of glomeruli at the caudal margins of the olfactorybulb. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	C	6: 121,613,338 (GRCm39)	S31P	probably damaging	Het
Abca12	G	T	1: 71,283,999 (GRCm39)	H2524Q	probably damaging	Het
Acsl5	T	C	19: 55,266,586 (GRCm39)	V135A	probably benign	Het
Actl11	T	G	9: 107,806,736 (GRCm39)	L353R	possibly damaging	Het
Adcy6	G	T	15: 98,496,379 (GRCm39)		probably null	Het
B230104I21Rik	A	G	4: 154,425,694 (GRCm39)	I697T	probably damaging	Het
BC061237	G	A	14: 44,738,700 (GRCm39)	R33K	possibly damaging	Het
Brf1	C	A	12: 112,963,964 (GRCm39)	V5F	possibly damaging	Het
Chmp2a	C	T	7: 12,767,863 (GRCm39)	A21T	possibly damaging	Het
Cwh43	A	G	5: 73,610,417 (GRCm39)	N607S	probably benign	Het
Ddhd2	G	A	8: 26,231,688 (GRCm39)	L445F	possibly damaging	Het
Dicer1	C	A	12: 104,669,143 (GRCm39)	D1180Y	possibly damaging	Het
Dnaaf4	A	T	9: 72,867,909 (GRCm39)	I57L	probably damaging	Het
Dock5	A	T	14: 68,083,511 (GRCm39)	S133T	possibly damaging	Het
Efs	A	T	14: 55,154,620 (GRCm39)	C540S	possibly damaging	Het
Ehd4	C	T	2: 119,921,973 (GRCm39)	G428S	probably benign	Het
Eml1	C	T	12: 108,504,476 (GRCm39)	R812*	probably null	Het
Enpp1	C	T	10: 24,530,786 (GRCm39)	D557N	possibly damaging	Het
Fn3krp	A	G	11: 121,315,803 (GRCm39)	T65A	probably damaging	Het
Galnt5	A	G	2: 57,888,615 (GRCm39)	R72G	probably benign	Het
Gfod1	C	T	13: 43,354,336 (GRCm39)	R213H	possibly damaging	Het
Gm10518	A	G	1: 179,631,210 (GRCm39)		probably benign	Het
Gm5431	A	G	11: 48,780,082 (GRCm39)	F558S	probably damaging	Het
Got1	C	T	19: 43,504,119 (GRCm39)		probably null	Het
Gucy2g	C	T	19: 55,226,191 (GRCm39)	V242I	probably benign	Het
Hdgfl2	T	A	17: 56,406,874 (GRCm39)	V606E	possibly damaging	Het
Hoxa3	T	C	6: 52,146,979 (GRCm39)		probably benign	Het
Iqub	T	A	6: 24,491,670 (GRCm39)	I339L	probably benign	Het
Kdm4c	C	T	4: 74,263,720 (GRCm39)	T668I	probably benign	Het
Klhl32	T	C	4: 24,617,474 (GRCm39)	I592V	probably benign	Het
Mfsd12	G	T	10: 81,197,921 (GRCm39)	M296I	probably benign	Het
Mfsd4b4	C	T	10: 39,768,437 (GRCm39)	A219T	probably damaging	Het
Mrpl52	T	C	14: 54,664,414 (GRCm39)	S9P	possibly damaging	Het
Nbr1	A	G	11: 101,458,040 (GRCm39)	Y273C	possibly damaging	Het
Ncf4	G	T	15: 78,144,846 (GRCm39)	G217V	probably damaging	Het
Neo1	T	C	9: 58,897,668 (GRCm39)	E96G	probably benign	Het
Nid2	T	A	14: 19,818,344 (GRCm39)	N279K	probably damaging	Het
Nr5a2	A	G	1: 136,872,732 (GRCm39)	Y56H	probably damaging	Het
Ntn4	C	T	10: 93,543,215 (GRCm39)	R314W	probably damaging	Het
Nynrin	A	G	14: 56,101,049 (GRCm39)	T280A	probably benign	Het
Or1o2	A	G	17: 37,542,434 (GRCm39)	Y276H	probably damaging	Het
Or2b28	T	A	13: 21,531,116 (GRCm39)	I6N	probably benign	Het
Or2w2	A	G	13: 21,758,426 (GRCm39)	F67L	probably benign	Het
Or5b109	T	C	19: 13,212,393 (GRCm39)	Y260H	probably damaging	Het
Otog	G	A	7: 45,895,707 (GRCm39)	C107Y	probably damaging	Het
Ptprn	A	G	1: 75,230,766 (GRCm39)	V565A	probably benign	Het
Rbm6	T	G	9: 107,730,102 (GRCm39)	D182A	probably damaging	Het
Rhbg	A	G	3: 88,151,859 (GRCm39)	F400L	probably benign	Het
Rpl22l1	T	A	3: 28,860,738 (GRCm39)	N33K	possibly damaging	Het
Rtp1	T	A	16: 23,249,959 (GRCm39)	I108N	probably damaging	Het
Sema6b	A	T	17: 56,439,797 (GRCm39)	F15I	probably benign	Het
Sirpa	C	T	2: 129,458,296 (GRCm39)	T304I	possibly damaging	Het
Slc22a29	A	G	19: 8,184,430 (GRCm39)	I257T	probably benign	Het
Slc41a1	T	C	1: 131,768,938 (GRCm39)	I256T	probably damaging	Het
Smg6	A	G	11: 75,033,674 (GRCm39)	K1208R	probably damaging	Het
Sorcs1	G	T	19: 50,210,633 (GRCm39)	P744Q	probably damaging	Het
Sptbn5	T	C	2: 119,900,943 (GRCm39)	T213A	probably benign	Het
St18	A	G	1: 6,872,936 (GRCm39)	T224A	probably benign	Het
Stat3	T	C	11: 100,785,655 (GRCm39)	N465S	probably damaging	Het
Stmn2	T	A	3: 8,610,636 (GRCm39)	M40K	probably benign	Het
Tespa1	A	G	10: 130,184,108 (GRCm39)	D63G	probably benign	Het
Thrb	T	A	14: 18,008,674 (GRCm38)	C133S	probably damaging	Het
Tmem25	C	T	9: 44,707,780 (GRCm39)	V172M	possibly damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Trhde	T	A	10: 114,636,754 (GRCm39)	Y151F	probably damaging	Het
Trp53bp2	A	G	1: 182,280,229 (GRCm39)	T912A	probably damaging	Het
Unc79	C	A	12: 103,135,951 (GRCm39)	A2269E	probably damaging	Het
Zfp507	C	T	7: 35,493,150 (GRCm39)	R631Q	probably damaging	Het
Zfp758	T	G	17: 22,594,823 (GRCm39)	S436R	probably damaging	Het
Zfp791	G	T	8: 85,837,312 (GRCm39)	T184K	probably benign	Het
Znrf3	A	G	11: 5,231,062 (GRCm39)	V817A	probably benign	Het

Other mutations in Or55b10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02001:Or55b10	APN	7	102,143,746 (GRCm39)	missense	probably benign	0.31
R1732:Or55b10	UTSW	7	102,143,247 (GRCm39)	missense	probably damaging	1.00
R2570:Or55b10	UTSW	7	102,143,106 (GRCm39)	missense	probably damaging	0.99
R4693:Or55b10	UTSW	7	102,143,659 (GRCm39)	missense	probably damaging	0.98
R5777:Or55b10	UTSW	7	102,143,178 (GRCm39)	missense	probably benign	0.01
R6481:Or55b10	UTSW	7	102,143,346 (GRCm39)	missense	probably damaging	0.97
R6597:Or55b10	UTSW	7	102,143,628 (GRCm39)	missense	probably damaging	1.00
R7562:Or55b10	UTSW	7	102,143,227 (GRCm39)	missense	possibly damaging	0.90
R7715:Or55b10	UTSW	7	102,143,668 (GRCm39)	missense	possibly damaging	0.91
R8027:Or55b10	UTSW	7	102,143,629 (GRCm39)	missense	probably damaging	0.98
R8238:Or55b10	UTSW	7	102,143,827 (GRCm39)	missense	possibly damaging	0.65
R9094:Or55b10	UTSW	7	102,143,568 (GRCm39)	missense	possibly damaging	0.71
R9320:Or55b10	UTSW	7	102,144,084 (GRCm39)	start gained	probably benign
R9427:Or55b10	UTSW	7	102,143,206 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- ATGATGGGGTTGACCAGACAC -3'
(R):5'- CAGGAGCACAAGCATTGTTG -3'

Sequencing Primer
(F):5'- TTGACCAGACACGGGAGC -3'
(R):5'- AGATGTGATCCGCCACTTTG -3'

Posted On

2014-07-14