Mutagenetix > Incidental Mutation

Incidental Mutation 'R1505:Or8k41'

169100

Institutional Source

Beutler Lab

Gene Symbol

Or8k41

Ensembl Gene

ENSMUSG00000111772

Gene Name

olfactory receptor family 8 subfamily K member 41

Synonyms

Olfr228, Olfr1071, GA_x6K02T0101M-139-669, MOR189-3, GA_x6K02T2Q125-47962802-47962551

MMRRC Submission

040868-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.149) question?

Stock #

R1505 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

86313143-86314084 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 86313557 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 176 (H176Q)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000216534] [ENSMUST00000217292]

AlphaFold

A0A1L1SR98

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099883
AA Change: H176Q

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000097468
Gene: ENSMUSG00000075180
AA Change: H176Q

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	306	1.5e-54	PFAM
Pfam:7tm_1	41	290	5.6e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000117635

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215705

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216534
AA Change: H176Q

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000217292
AA Change: H176Q

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.5%
20x: 86.3%

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	T	A	5: 105,099,431 (GRCm39)	R444W	probably damaging	Het
Adnp	A	G	2: 168,025,661 (GRCm39)	S545P	possibly damaging	Het
Ankrd17	T	C	5: 90,447,885 (GRCm39)	R219G	possibly damaging	Het
Ap2m1	C	G	16: 20,361,447 (GRCm39)	P372A	probably benign	Het
Calml3	T	A	13: 3,854,071 (GRCm39)	T45S	probably benign	Het
Casp8	A	G	1: 58,868,081 (GRCm39)	E174G	probably damaging	Het
Ces4a	G	A	8: 105,864,729 (GRCm39)	G69S	probably damaging	Het
Cfap221	A	C	1: 119,881,358 (GRCm39)	L368R	probably benign	Het
Chd9	A	G	8: 91,733,123 (GRCm39)		probably null	Het
Cnot1	A	T	8: 96,455,295 (GRCm39)	I2035N	probably damaging	Het
Cyp2c67	T	C	19: 39,637,408 (GRCm39)	R23G	probably benign	Het
Dnah10	A	C	5: 124,831,303 (GRCm39)	H777P	possibly damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fam162b	G	A	10: 51,463,298 (GRCm39)	A123V	probably damaging	Het
Golgb1	T	A	16: 36,740,005 (GRCm39)	N2781K	possibly damaging	Het
Hs2st1	C	A	3: 144,140,322 (GRCm39)	R333L	probably benign	Het
Kmt2e	A	G	5: 23,705,533 (GRCm39)	H1319R	probably null	Het
Necab1	A	T	4: 14,960,047 (GRCm39)	M300K	probably benign	Het
Ntrk3	T	A	7: 78,110,272 (GRCm39)	I321F	probably damaging	Het
Or5p60	A	G	7: 107,724,200 (GRCm39)	V90A	probably benign	Het
Or7e169	A	T	9: 19,757,084 (GRCm39)	M277K	probably benign	Het
Or8g52	A	G	9: 39,630,774 (GRCm39)	N84D	probably damaging	Het
Osbpl6	T	C	2: 76,409,586 (GRCm39)	S483P	probably damaging	Het
Pcdhb17	A	C	18: 37,619,875 (GRCm39)	N555T	probably damaging	Het
Pdgfc	G	A	3: 81,116,543 (GRCm39)	R299H	possibly damaging	Het
Ptpn7	A	T	1: 135,062,302 (GRCm39)	T83S	probably benign	Het
Rapgef5	T	C	12: 117,652,354 (GRCm39)	V79A	possibly damaging	Het
Rexo5	T	A	7: 119,398,826 (GRCm39)	C54*	probably null	Het
Riok3	A	G	18: 12,285,935 (GRCm39)	K418R	probably benign	Het
Robo4	G	A	9: 37,314,523 (GRCm39)	G170D	probably damaging	Het
Rpl8	A	G	15: 76,788,610 (GRCm39)	D33G	possibly damaging	Het
Rspo2	T	C	15: 42,939,239 (GRCm39)	T184A	probably damaging	Het
Ryr2	A	T	13: 11,569,478 (GRCm39)	M4942K	possibly damaging	Het
Sel1l	T	C	12: 91,780,736 (GRCm39)	Y585C	probably damaging	Het
Slc25a11	G	T	11: 70,537,650 (GRCm39)	D13E	probably benign	Het
Slc5a6	G	T	5: 31,194,455 (GRCm39)	H584N	probably benign	Het
Snrpf	A	G	10: 93,419,381 (GRCm39)	V69A	possibly damaging	Het
Sorbs3	T	A	14: 70,428,251 (GRCm39)	K475*	probably null	Het
Speg	G	A	1: 75,352,186 (GRCm39)	V35I	probably benign	Het
Tlk2	T	G	11: 105,151,121 (GRCm39)	V468G	probably damaging	Het
Trim6	T	A	7: 103,881,771 (GRCm39)	W341R	probably damaging	Het
Ttll5	T	A	12: 85,926,184 (GRCm39)	I326N	probably damaging	Het
Vipas39	T	C	12: 87,292,934 (GRCm39)	Y318C	probably damaging	Het
Vmn1r185	T	A	7: 26,310,903 (GRCm39)	I201F	probably damaging	Het
Vwce	A	G	19: 10,641,608 (GRCm39)	H778R	probably benign	Het
Zbtb14	C	G	17: 69,694,759 (GRCm39)	I152M	probably benign	Het

Other mutations in Or8k41

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00157:Or8k41	APN	2	86,313,562 (GRCm39)	missense	probably benign	0.05
IGL02136:Or8k41	APN	2	86,313,809 (GRCm39)	missense	probably damaging	1.00
IGL02419:Or8k41	APN	2	86,313,259 (GRCm39)	missense	probably damaging	0.99
IGL03008:Or8k41	APN	2	86,313,678 (GRCm39)	missense	probably damaging	1.00
R0240:Or8k41	UTSW	2	86,313,730 (GRCm39)	missense	possibly damaging	0.78
R0240:Or8k41	UTSW	2	86,313,730 (GRCm39)	missense	possibly damaging	0.78
R1073:Or8k41	UTSW	2	86,313,984 (GRCm39)	missense	probably damaging	0.98
R1163:Or8k41	UTSW	2	86,313,582 (GRCm39)	missense	probably damaging	1.00
R1806:Or8k41	UTSW	2	86,313,483 (GRCm39)	missense	probably damaging	0.99
R1940:Or8k41	UTSW	2	86,313,703 (GRCm39)	nonsense	probably null
R3025:Or8k41	UTSW	2	86,314,083 (GRCm39)	start codon destroyed	probably null	1.00
R3037:Or8k41	UTSW	2	86,313,987 (GRCm39)	missense	probably damaging	0.96
R5156:Or8k41	UTSW	2	86,313,362 (GRCm39)	nonsense	probably null
R6459:Or8k41	UTSW	2	86,313,573 (GRCm39)	missense	probably benign	0.23
R6472:Or8k41	UTSW	2	86,313,534 (GRCm39)	nonsense	probably null
R6493:Or8k41	UTSW	2	86,313,565 (GRCm39)	missense	possibly damaging	0.59
R6880:Or8k41	UTSW	2	86,314,069 (GRCm39)	missense	probably benign
R7283:Or8k41	UTSW	2	86,313,483 (GRCm39)	missense	probably damaging	0.99
R8113:Or8k41	UTSW	2	86,313,412 (GRCm39)	missense	probably damaging	1.00
R9799:Or8k41	UTSW	2	86,313,732 (GRCm39)	missense	probably damaging	1.00
X0028:Or8k41	UTSW	2	86,313,234 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGCCTGCCTTCAGCAGAGTTCATC -3'
(R):5'- AGACACCTCGCTACTACTGACCTTG -3'

Sequencing Primer
(F):5'- GAGTTCATCCTGAGAATAGCTCTGAG -3'
(R):5'- ACTGACCTTGGTTATTCAACAGC -3'

Posted On

2014-04-13