Mutagenetix > Incidental Mutation

Incidental Mutation 'R8489:Or8b50'

657895

Institutional Source

Beutler Lab

Gene Symbol

Or8b50

Ensembl Gene

ENSMUSG00000047050

Gene Name

olfactory receptor family 8 subfamily B member 50

Synonyms

Olfr914, MOR165-7, GA_x6K02T2PVTD-32308823-32309773

MMRRC Submission

067932-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R8489 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

38517763-38518713 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 38518232 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 157 (M157T)

Ref Sequence

ENSEMBL: ENSMUSP00000150241 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057755] [ENSMUST00000217057]

AlphaFold

E9PW59

Predicted Effect

probably benign
Transcript: ENSMUST00000057755
AA Change: M157T

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000053405
Gene: ENSMUSG00000047050
AA Change: M157T

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	310	1.1e-48	PFAM
Pfam:7tm_1	41	290	5.2e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000217057
AA Change: M157T

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AI661453	C	A	17: 47,777,254 (GRCm39)		probably benign	Het
Apc2	T	G	10: 80,143,298 (GRCm39)	L466R	probably damaging	Het
Baz1b	C	A	5: 135,245,709 (GRCm39)	P386H	probably damaging	Het
Ccdc149	T	C	5: 52,533,999 (GRCm39)	D389G	probably benign	Het
Cit	T	A	5: 116,083,962 (GRCm39)		probably null	Het
Cmas	C	A	6: 142,702,596 (GRCm39)	A33E	probably benign	Het
Dcaf7	A	G	11: 105,942,743 (GRCm39)	N230S	probably damaging	Het
Dcun1d5	C	A	9: 7,206,837 (GRCm39)		probably benign	Het
Dennd5b	T	A	6: 148,986,389 (GRCm39)	D58V	probably benign	Het
Dmrt2	C	A	19: 25,655,831 (GRCm39)	Q477K	probably damaging	Het
Eva1c	A	G	16: 90,672,999 (GRCm39)	N90S	probably damaging	Het
Fcgbp	A	T	7: 27,804,435 (GRCm39)	I1848F	possibly damaging	Het
Fgfr2	T	G	7: 129,769,534 (GRCm39)	M522L	probably benign	Het
Fshr	C	A	17: 89,293,795 (GRCm39)	K294N	probably benign	Het
Gja10	T	C	4: 32,601,866 (GRCm39)	I173V	probably benign	Het
Gmnn	A	G	13: 24,941,614 (GRCm39)	S32P	probably damaging	Het
Hdac9	T	C	12: 34,487,180 (GRCm39)	N95D	probably damaging	Het
Ipo13	T	C	4: 117,758,219 (GRCm39)	T715A	probably damaging	Het
Klrc2	A	G	6: 129,635,787 (GRCm39)	S97P	probably benign	Het
Lrrn4	G	A	2: 132,721,364 (GRCm39)	S151L	probably benign	Het
Man2a1	G	T	17: 64,908,765 (GRCm39)	S12I	possibly damaging	Het
Mplkipl1	T	C	19: 61,164,085 (GRCm39)	T117A	probably damaging	Het
Mrgprb8	T	A	7: 48,038,701 (GRCm39)	V124E	possibly damaging	Het
Myo5c	T	C	9: 75,180,128 (GRCm39)	W690R	probably damaging	Het
Ncapd2	T	C	6: 125,150,745 (GRCm39)	K817E	probably damaging	Het
Or51k2	T	C	7: 103,596,328 (GRCm39)	I185T	probably damaging	Het
Or5h27	A	G	16: 59,006,400 (GRCm39)	*149Q	probably null	Het
Or5p60	T	A	7: 107,724,372 (GRCm39)	I33F	probably benign	Het
Pcdh18	A	T	3: 49,709,038 (GRCm39)	I759N	probably damaging	Het
Pcdhac2	A	T	18: 37,278,207 (GRCm39)	N396Y	probably damaging	Het
Pcm1	T	A	8: 41,766,437 (GRCm39)	C1542S	probably benign	Het
Pcsk1	T	A	13: 75,274,121 (GRCm39)	V450E	probably damaging	Het
Pld2	A	G	11: 70,445,121 (GRCm39)	K574E	probably damaging	Het
Pramel52-ps	T	C	5: 94,531,551 (GRCm39)	L145P	probably damaging	Het
Psmc1	C	T	12: 100,089,356 (GRCm39)	R410C	probably benign	Het
Rad51b	C	T	12: 79,374,024 (GRCm39)	S201L	probably benign	Het
Rgs3	T	A	4: 62,544,733 (GRCm39)	L200Q	probably damaging	Het
Rims2	A	G	15: 39,479,846 (GRCm39)	M1293V	probably damaging	Het
Scin	C	T	12: 40,131,019 (GRCm39)	G298D	probably damaging	Het
Scn8a	C	A	15: 100,867,014 (GRCm39)	F123L	probably damaging	Het
Snapc3	G	A	4: 83,369,531 (GRCm39)	C353Y	probably damaging	Het
Sned1	C	A	1: 93,210,978 (GRCm39)	S231*	probably null	Het
Tex15	A	G	8: 34,067,574 (GRCm39)	T2335A	probably benign	Het
Tigd4	G	A	3: 84,502,526 (GRCm39)	G481D	probably benign	Het
Trank1	T	G	9: 111,219,343 (GRCm39)	F2027V	probably benign	Het
Ubr1	C	T	2: 120,711,548 (GRCm39)	A1449T	probably benign	Het
Ulk1	G	T	5: 110,947,002 (GRCm39)	Y89*	probably null	Het
Usp54	A	G	14: 20,611,604 (GRCm39)	F1071L	probably benign	Het
Utrn	C	T	10: 12,587,190 (GRCm39)	E949K	probably benign	Het
Vmn2r65	T	A	7: 84,589,964 (GRCm39)	T651S	possibly damaging	Het
Wdfy1	A	G	1: 79,739,368 (GRCm39)	L17P	probably damaging	Het
Zfp672	G	A	11: 58,220,681 (GRCm39)		probably benign	Het

Other mutations in Or8b50

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01613:Or8b50	APN	9	38,517,850 (GRCm39)	missense	probably null	0.00
IGL01758:Or8b50	APN	9	38,518,589 (GRCm39)	missense	probably damaging	0.99
IGL02003:Or8b50	APN	9	38,518,136 (GRCm39)	missense	probably damaging	1.00
IGL02203:Or8b50	APN	9	38,518,719 (GRCm39)	utr 3 prime	probably benign
IGL02233:Or8b50	APN	9	38,518,538 (GRCm39)	missense	probably damaging	1.00
IGL02408:Or8b50	APN	9	38,518,417 (GRCm39)	missense	possibly damaging	0.62
IGL02882:Or8b50	APN	9	38,518,234 (GRCm39)	missense	probably benign	0.04
IGL03081:Or8b50	APN	9	38,518,166 (GRCm39)	missense	probably benign	0.01
IGL03088:Or8b50	APN	9	38,518,597 (GRCm39)	missense	probably damaging	0.99
IGL03177:Or8b50	APN	9	38,517,867 (GRCm39)	nonsense	probably null
IGL03219:Or8b50	APN	9	38,518,247 (GRCm39)	missense	probably benign	0.28
P0023:Or8b50	UTSW	9	38,517,941 (GRCm39)	missense	probably damaging	1.00
R0630:Or8b50	UTSW	9	38,518,192 (GRCm39)	missense	probably benign	0.01
R0948:Or8b50	UTSW	9	38,517,787 (GRCm39)	missense	possibly damaging	0.65
R1451:Or8b50	UTSW	9	38,518,234 (GRCm39)	missense	probably benign	0.04
R1681:Or8b50	UTSW	9	38,518,244 (GRCm39)	missense	probably damaging	0.99
R2402:Or8b50	UTSW	9	38,518,397 (GRCm39)	missense	probably benign	0.02
R5854:Or8b50	UTSW	9	38,517,959 (GRCm39)	missense	probably damaging	1.00
R6857:Or8b50	UTSW	9	38,518,307 (GRCm39)	missense	probably benign	0.07
R7452:Or8b50	UTSW	9	38,518,384 (GRCm39)	missense	probably benign	0.34
R7838:Or8b50	UTSW	9	38,517,708 (GRCm39)	start gained	probably benign
R8039:Or8b50	UTSW	9	38,518,685 (GRCm39)	missense	probably benign
R8768:Or8b50	UTSW	9	38,518,441 (GRCm39)	missense	probably benign	0.01
R9373:Or8b50	UTSW	9	38,518,142 (GRCm39)	missense	possibly damaging	0.91
R9380:Or8b50	UTSW	9	38,518,415 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGATCACACCCAAAATGCTGATG -3'
(R):5'- ATCACAGTGGGCACAATGATG -3'

Sequencing Primer
(F):5'- CTTACATGGGGTGCATGACTCAG -3'
(R):5'- ACAGTGGGCACAATGATGTCTTTTC -3'

Posted On

2021-01-18