Mutagenetix > Incidental Mutation

Incidental Mutation 'R6242:Or5b106'

505341

Institutional Source

Beutler Lab

Gene Symbol

Or5b106

Ensembl Gene

ENSMUSG00000057503

Gene Name

olfactory receptor family 5 subfamily B member 106

Synonyms

MOR202-17, GA_x6K02T2RE5P-3473421-3472498, Olfr1459

MMRRC Submission

044434-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R6242 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

13123098-13124021 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 13123450 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 191 (H191L)

Ref Sequence

ENSEMBL: ENSMUSP00000150886 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078299] [ENSMUST00000213493]

AlphaFold

Q8VFV9

Predicted Effect

probably benign
Transcript: ENSMUST00000078299
AA Change: H191L

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000077414
Gene: ENSMUSG00000057503
AA Change: H191L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	8e-50	PFAM
Pfam:7tm_1	39	288	1.5e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213493
AA Change: H191L

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215405

Meta Mutation Damage Score

0.2503

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.9%

Validation Efficiency

99% (75/76)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy6	G	T	15: 98,501,896 (GRCm39)	C239*	probably null	Het
Akr1c6	A	G	13: 4,486,361 (GRCm39)	Q56R	probably benign	Het
Apaf1	T	A	10: 90,898,025 (GRCm39)	D244V	probably damaging	Het
Araf	G	T	X: 20,726,339 (GRCm39)	R601L	probably damaging	Homo
Arhgef11	C	A	3: 87,635,385 (GRCm39)	A898E	probably benign	Het
Asxl3	A	T	18: 22,655,433 (GRCm39)	N1148Y	probably damaging	Het
Atf6	T	A	1: 170,621,545 (GRCm39)	Q492L	possibly damaging	Het
Atrnl1	G	T	19: 57,630,910 (GRCm39)	V226F	probably benign	Het
Cfap68	C	T	9: 50,675,215 (GRCm39)	E148K	probably benign	Het
Cntnap1	A	T	11: 101,073,364 (GRCm39)	Y615F	probably damaging	Het
Crybg3	T	C	16: 59,376,053 (GRCm39)	T1734A	probably benign	Het
Ctdp1	A	C	18: 80,502,427 (GRCm39)	V161G	probably damaging	Het
Cyp4a30b	T	A	4: 115,311,587 (GRCm39)	V85E	possibly damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Homo
Epha6	A	T	16: 59,503,025 (GRCm39)	W961R	probably damaging	Het
Fam114a1	A	G	5: 65,188,695 (GRCm39)	E475G	probably damaging	Het
Fam186a	A	G	15: 99,837,788 (GRCm39)	Y2819H	unknown	Het
Fancm	A	T	12: 65,163,216 (GRCm39)	Q1460L	probably benign	Het
Fancm	C	A	12: 65,163,223 (GRCm39)	N1462K	probably benign	Het
Fgf14	T	C	14: 124,913,940 (GRCm39)	K64E	probably benign	Het
Fndc5	T	C	4: 129,033,688 (GRCm39)	V152A	probably benign	Het
Garem1	C	G	18: 21,262,229 (GRCm39)	V862L	possibly damaging	Het
Grin3b	G	A	10: 79,812,013 (GRCm39)	G814R	probably damaging	Het
Hacd4	A	G	4: 88,332,524 (GRCm39)	S226P	probably benign	Het
Htt	A	G	5: 35,003,356 (GRCm39)	Y1277C	probably damaging	Het
Igkv1-131	T	A	6: 67,743,062 (GRCm39)	D107V	probably damaging	Het
Iqcc	T	C	4: 129,510,639 (GRCm39)	D292G	probably damaging	Het
Krtap13	C	T	16: 88,548,384 (GRCm39)	V35I	probably damaging	Het
Liat1	T	C	11: 75,890,981 (GRCm39)	S32P	probably damaging	Het
Lrrc59	G	T	11: 94,525,809 (GRCm39)	L132F	possibly damaging	Het
Mcub	T	C	3: 129,709,444 (GRCm39)	S290G	probably benign	Het
Mettl4	A	G	17: 95,042,802 (GRCm39)	W345R	probably damaging	Het
Msgn1	G	A	12: 11,258,526 (GRCm39)	R142W	probably damaging	Het
Myo5c	A	G	9: 75,180,893 (GRCm39)	I761V	probably benign	Het
Neb	T	A	2: 52,066,824 (GRCm39)	K5879M	probably damaging	Het
Nkd2	C	T	13: 73,970,905 (GRCm39)	V226M	probably damaging	Het
Nt5el	T	A	13: 105,246,048 (GRCm39)	V203E	probably benign	Het
Or51a24	T	G	7: 103,733,771 (GRCm39)	H172P	possibly damaging	Het
Parp4	T	A	14: 56,832,856 (GRCm39)	L393*	probably null	Het
Pcdhgb6	G	A	18: 37,876,608 (GRCm39)	V439I	probably benign	Het
Pde1a	T	A	2: 79,959,136 (GRCm39)	T15S	probably benign	Het
Pgr	T	A	9: 8,900,980 (GRCm39)	I171N	probably benign	Het
Podxl	T	A	6: 31,503,180 (GRCm39)	D296V	probably benign	Het
Polr3e	A	T	7: 120,539,690 (GRCm39)	E479V	possibly damaging	Het
Prdm10	A	T	9: 31,252,548 (GRCm39)	H427L	possibly damaging	Het
Prl5a1	A	T	13: 28,326,538 (GRCm39)	K5*	probably null	Het
Prph	A	G	15: 98,955,004 (GRCm39)	S325G	probably damaging	Het
Rabl2	C	A	15: 89,468,555 (GRCm39)	W49L	probably benign	Het
Rbbp8nl	T	A	2: 179,922,767 (GRCm39)	I209F	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Homo
Scn7a	T	C	2: 66,531,110 (GRCm39)	D589G	probably benign	Het
Sdr42e1	A	T	8: 118,389,936 (GRCm39)	L235Q	possibly damaging	Het
Serpina3a	T	C	12: 104,082,260 (GRCm39)	M11T	probably benign	Het
Slc6a4	A	T	11: 76,909,184 (GRCm39)	K399*	probably null	Het
Slco4c1	T	A	1: 96,767,008 (GRCm39)	T337S	probably damaging	Het
Spc25	A	T	2: 69,027,555 (GRCm39)	F112L	probably damaging	Het
Swt1	A	G	1: 151,283,365 (GRCm39)	S331P	probably benign	Het
Tab1	A	T	15: 80,039,971 (GRCm39)	K264*	probably null	Het
Tagln3	T	A	16: 45,544,701 (GRCm39)		probably benign	Het
Tbc1d2	C	T	4: 46,629,912 (GRCm39)	G252R	probably benign	Het
Tbck	A	G	3: 132,400,189 (GRCm39)	D80G	probably benign	Het
Tcim	A	T	8: 24,928,911 (GRCm39)	M1K	probably null	Het
Thap2	A	G	10: 115,208,831 (GRCm39)	S37P	unknown	Het
Tjp2	A	T	19: 24,076,967 (GRCm39)		probably null	Het
Tln1	G	A	4: 43,533,145 (GRCm39)	S2390L	probably damaging	Het
Trpm5	T	G	7: 142,626,919 (GRCm39)	I1101L	probably benign	Het
Ttc3	T	G	16: 94,243,554 (GRCm39)	M831R	probably benign	Het
Tulp3	A	G	6: 128,300,050 (GRCm39)	C459R	probably damaging	Het
Uaca	G	A	9: 60,777,326 (GRCm39)	R571Q	probably damaging	Het
Unc13b	A	T	4: 43,165,800 (GRCm39)	T195S	possibly damaging	Het
Urgcp	A	G	11: 5,666,691 (GRCm39)	L549P	probably benign	Het
Usp10	G	T	8: 120,668,577 (GRCm39)	A293S	probably benign	Het
Vmn2r23	A	G	6: 123,681,359 (GRCm39)	E89G	possibly damaging	Het
Vmn2r75	A	C	7: 85,814,592 (GRCm39)	D300E	probably damaging	Het
Wif1	T	C	10: 120,870,366 (GRCm39)	I40T	possibly damaging	Het
Zmynd8	G	A	2: 165,740,867 (GRCm39)	R6C	possibly damaging	Het

Other mutations in Or5b106

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01371:Or5b106	APN	19	13,123,192 (GRCm39)	missense	possibly damaging	0.82
IGL01618:Or5b106	APN	19	13,123,614 (GRCm39)	missense	probably benign	0.00
IGL01800:Or5b106	APN	19	13,123,993 (GRCm39)	missense	probably damaging	1.00
IGL02224:Or5b106	APN	19	13,123,120 (GRCm39)	missense	probably damaging	1.00
BB009:Or5b106	UTSW	19	13,123,345 (GRCm39)	missense	probably benign	0.10
BB019:Or5b106	UTSW	19	13,123,345 (GRCm39)	missense	probably benign	0.10
PIT4651001:Or5b106	UTSW	19	13,123,991 (GRCm39)	missense	probably benign	0.02
R0617:Or5b106	UTSW	19	13,123,727 (GRCm39)	missense	probably benign	0.28
R2041:Or5b106	UTSW	19	13,124,041 (GRCm39)	start gained	probably benign
R2878:Or5b106	UTSW	19	13,123,771 (GRCm39)	missense	probably benign	0.38
R3742:Or5b106	UTSW	19	13,123,258 (GRCm39)	missense	probably damaging	0.98
R4905:Or5b106	UTSW	19	13,123,541 (GRCm39)	missense	probably benign	0.07
R4914:Or5b106	UTSW	19	13,123,355 (GRCm39)	missense	possibly damaging	0.64
R4915:Or5b106	UTSW	19	13,123,355 (GRCm39)	missense	possibly damaging	0.64
R4916:Or5b106	UTSW	19	13,123,355 (GRCm39)	missense	possibly damaging	0.64
R4917:Or5b106	UTSW	19	13,123,355 (GRCm39)	missense	possibly damaging	0.64
R4918:Or5b106	UTSW	19	13,123,355 (GRCm39)	missense	possibly damaging	0.64
R5367:Or5b106	UTSW	19	13,123,865 (GRCm39)	missense	probably damaging	0.98
R6632:Or5b106	UTSW	19	13,123,552 (GRCm39)	missense	probably benign	0.02
R6893:Or5b106	UTSW	19	13,123,106 (GRCm39)	missense	probably benign	0.00
R7932:Or5b106	UTSW	19	13,123,345 (GRCm39)	missense	probably benign	0.10
R9572:Or5b106	UTSW	19	13,123,928 (GRCm39)	missense	possibly damaging	0.78
R9730:Or5b106	UTSW	19	13,123,747 (GRCm39)	missense	possibly damaging	0.80

Predicted Primers

PCR Primer
(F):5'- CAGTGTCCATGGAGTGATGG -3'
(R):5'- CCACCATGACAAAACGTGTG -3'

Sequencing Primer
(F):5'- CTGGGCTGTAAGTACATGAATATG -3'
(R):5'- CATGACAAAACGTGTGTGTGCATC -3'

Posted On

2018-02-28