Mutagenetix > Incidental Mutation

Incidental Mutation 'R6597:Or55b10'

524937

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

044721-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.147) question?

Stock #

R6597 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

102143030-102143980 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 102143628 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 118 (I118N)

Ref Sequence

ENSEMBL: ENSMUSP00000150232 (fasta)

Gene Model

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

AlphaFold

Q9WU94

Predicted Effect

probably damaging
Transcript: ENSMUST00000058750
AA Change: I118N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000052396
Gene: ENSMUSG00000044824
AA Change: I118N

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

probably damaging
Transcript: ENSMUST00000216116
AA Change: I118N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217464

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.2%

Validation Efficiency

100% (50/50)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	G	6: 121,625,080 (GRCm39)	Y486C	probably damaging	Het
Asb17	A	T	3: 153,550,321 (GRCm39)	T118S	probably damaging	Het
Atl2	T	A	17: 80,160,195 (GRCm39)	D293V	possibly damaging	Het
Bbs1	T	A	19: 4,949,334 (GRCm39)	M242L	probably benign	Het
Btg1	T	A	10: 96,454,182 (GRCm39)	S65T	probably damaging	Het
Cfap54	T	C	10: 92,834,902 (GRCm39)	D1101G	possibly damaging	Het
Cmpk2	G	T	12: 26,524,144 (GRCm39)	V314L	possibly damaging	Het
Fbxl8	A	C	8: 105,995,523 (GRCm39)	D345A	probably benign	Het
Gys2	T	A	6: 142,402,035 (GRCm39)	H268L	probably benign	Het
Hecw1	T	A	13: 14,491,403 (GRCm39)	R117*	probably null	Het
Hoxd10	G	A	2: 74,522,984 (GRCm39)	A221T	probably benign	Het
Hspa13	A	T	16: 75,562,085 (GRCm39)	L38Q	probably damaging	Het
Inava	G	T	1: 136,153,927 (GRCm39)	A87E	probably damaging	Het
Ipo11	A	G	13: 107,002,371 (GRCm39)		probably null	Het
Itgb8	A	G	12: 119,137,133 (GRCm39)	V390A	possibly damaging	Het
Kalrn	T	A	16: 34,003,117 (GRCm39)	I1370F	probably damaging	Het
Macf1	T	C	4: 123,276,485 (GRCm39)	N6086S	probably damaging	Het
Ms4a13	T	C	19: 11,170,303 (GRCm39)	T14A	probably benign	Het
Or11g26	T	A	14: 50,753,008 (GRCm39)	C116S	probably benign	Het
Or5ac22	C	T	16: 59,135,713 (GRCm39)	R19H	probably benign	Het
Or5d37	A	G	2: 87,923,413 (GRCm39)	F289S	probably damaging	Het
Or8b47	A	T	9: 38,435,300 (GRCm39)	I91F	probably benign	Het
Or9q1	T	A	19: 13,805,821 (GRCm39)		probably benign	Het
Patl2	T	A	2: 122,016,645 (GRCm39)		probably benign	Het
Pcdhga7	T	C	18: 37,850,059 (GRCm39)	S689P	probably benign	Het
Pitpnc1	G	T	11: 107,117,058 (GRCm39)	Y227*	probably null	Het
Pla2g2e	T	C	4: 138,607,984 (GRCm39)	V22A	unknown	Het
Ppil1	C	A	17: 29,480,852 (GRCm39)	V24F	probably benign	Het
Prl3b1	G	A	13: 27,431,957 (GRCm39)		probably null	Het
Rabgef1	G	A	5: 130,219,885 (GRCm39)		probably null	Het
Rhot2	A	T	17: 26,059,886 (GRCm39)	W341R	probably damaging	Het
Rps6kc1	A	T	1: 190,482,381 (GRCm39)	W286R	probably benign	Het
Rrs1	A	G	1: 9,616,601 (GRCm39)	T285A	probably damaging	Het
Shc3	T	A	13: 51,597,009 (GRCm39)	D338V	possibly damaging	Het
Siglech	A	T	7: 55,418,211 (GRCm39)	M60L	probably benign	Het
Slc12a6	G	T	2: 112,183,280 (GRCm39)	V756F	probably damaging	Het
Slc43a2	G	A	11: 75,462,681 (GRCm39)	G507D	probably damaging	Het
Slf1	A	G	13: 77,197,248 (GRCm39)	S789P	probably benign	Het
Spata31d1d	C	A	13: 59,873,871 (GRCm39)	M1221I	probably benign	Het
Srgap1	T	C	10: 121,628,276 (GRCm39)	N899D	probably benign	Het
Stag1	G	A	9: 100,769,473 (GRCm39)	M529I	probably benign	Het
Tekt3	A	G	11: 62,972,085 (GRCm39)	D247G	probably benign	Het
Tmppe	A	T	9: 114,234,312 (GRCm39)	M204L	probably benign	Het
Tpsg1	G	A	17: 25,588,271 (GRCm39)		probably benign	Het
Ttn	A	G	2: 76,628,315 (GRCm39)	V6288A	probably benign	Het
Ttn	A	T	2: 76,723,444 (GRCm39)		probably benign	Het
Twsg1	C	A	17: 66,244,799 (GRCm39)	V73F	probably damaging	Het
Vmn2r102	A	G	17: 19,914,450 (GRCm39)	T672A	probably damaging	Het
Vps36	A	G	8: 22,692,320 (GRCm39)	I66V	probably benign	Het
Xrcc4	A	T	13: 90,149,048 (GRCm39)	D157E	probably benign	Het
Zbbx	T	A	3: 75,043,761 (GRCm39)	Q162L	probably damaging	Het
Zfp560	T	A	9: 20,259,297 (GRCm39)	I522L	probably benign	Het
Zscan20	T	C	4: 128,479,539 (GRCm39)	N984S	probably damaging	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
R1927:Or55b10	UTSW	7	102,143,266 (GRCm39)	missense	possibly damaging	0.89
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
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'- CCACAGGAAAGCTTCATCAGG -3'
(R):5'- AGCCCATGTACCTGCTCATTG -3'

Sequencing Primer
(F):5'- AAGCTTCATCAGGGCCATGTG -3'
(R):5'- ATGTACCTGCTCATTGCCCTG -3'

Posted On

2018-06-22