Mutagenetix > Incidental Mutation

Incidental Mutation 'R1806:Or8k41'

203434

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

039835-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.130) question?

Stock #

R1806 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86313143-86314084 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 86313483 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 201 (I201N)

Gene Model

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

AlphaFold

A0A1L1SR98

Predicted Effect

probably damaging
Transcript: ENSMUST00000099883
AA Change: I201N

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000097468
Gene: ENSMUSG00000075180
AA Change: I201N

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

probably damaging
Transcript: ENSMUST00000216534
AA Change: I201N

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000217292
AA Change: I201N

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

Meta Mutation Damage Score

0.2206

Coding Region Coverage

1x: 97.5%
3x: 96.8%
10x: 94.9%
20x: 91.2%

Validation Efficiency

96% (77/80)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm3	T	C	3: 59,784,571 (GRCm39)	L348P	probably damaging	Het
Adamts15	C	A	9: 30,816,111 (GRCm39)	C616F	probably damaging	Het
Adarb1	T	C	10: 77,158,099 (GRCm39)	N116S	probably damaging	Het
Add2	C	T	6: 86,095,639 (GRCm39)	S437L	probably damaging	Het
Adra1d	T	A	2: 131,388,069 (GRCm39)	R495S	probably benign	Het
Agk	C	T	6: 40,364,429 (GRCm39)	T309I	probably damaging	Het
Aqr	T	C	2: 113,992,133 (GRCm39)	Y81C	probably damaging	Het
Bak1	G	A	17: 27,240,242 (GRCm39)	Q142*	probably null	Het
Bckdha	A	G	7: 25,330,845 (GRCm39)	V307A	probably damaging	Het
Camk2n2	C	A	16: 20,438,948 (GRCm39)	G72V	probably benign	Het
Cd276	A	T	9: 58,434,845 (GRCm39)		probably benign	Het
Cd2ap	G	A	17: 43,149,649 (GRCm39)	Q122*	probably null	Het
Cdan1	T	A	2: 120,561,907 (GRCm39)		probably benign	Het
Cdh3	T	C	8: 107,263,547 (GRCm39)	S156P	probably benign	Het
Chil4	T	A	3: 106,117,959 (GRCm39)		probably benign	Het
Col11a1	C	T	3: 113,951,791 (GRCm39)	R1074C	probably damaging	Het
Depp1	G	A	6: 116,628,683 (GRCm39)	V9M	possibly damaging	Het
Fcrlb	T	C	1: 170,735,096 (GRCm39)	T344A	probably benign	Het
Fras1	T	A	5: 96,861,829 (GRCm39)		probably benign	Het
Fras1	G	T	5: 96,912,835 (GRCm39)	V3380F	possibly damaging	Het
Galnt9	A	G	5: 110,767,119 (GRCm39)	D530G	possibly damaging	Het
Gja10	A	T	4: 32,601,135 (GRCm39)	S416R	probably benign	Het
Gm10549	T	A	18: 33,603,841 (GRCm39)	V108E	unknown	Het
Hook3	A	T	8: 26,558,687 (GRCm39)	L59Q	probably damaging	Het
Hpf1	T	A	8: 61,353,154 (GRCm39)	D178E	probably benign	Het
Hsd17b7	T	C	1: 169,788,698 (GRCm39)	N173S	possibly damaging	Het
Hsph1	A	G	5: 149,553,454 (GRCm39)	F236L	probably damaging	Het
Kcnk12	G	T	17: 88,053,537 (GRCm39)	T375K	probably benign	Het
Klra3	A	T	6: 130,304,033 (GRCm39)	S220T	probably damaging	Het
Lhx1	A	T	11: 84,414,967 (GRCm39)	L12Q	probably damaging	Het
Lnx1	A	G	5: 74,766,710 (GRCm39)	L468P	probably damaging	Het
Ltbp3	T	A	19: 5,803,970 (GRCm39)	C827*	probably null	Het
Mical1	C	T	10: 41,354,210 (GRCm39)	A53V	probably damaging	Het
Mmp10	A	T	9: 7,506,502 (GRCm39)	H326L	probably benign	Het
Mpl	A	T	4: 118,300,729 (GRCm39)	M600K	possibly damaging	Het
Muc5b	T	A	7: 141,419,230 (GRCm39)	D4004E	possibly damaging	Het
Myo5b	A	T	18: 74,710,680 (GRCm39)	H98L	possibly damaging	Het
Nbeal1	A	G	1: 60,323,251 (GRCm39)	T2110A	probably damaging	Het
Nedd4l	C	A	18: 65,345,862 (GRCm39)	R825S	probably damaging	Het
Ntn4	C	T	10: 93,543,215 (GRCm39)	R314W	probably damaging	Het
Or4k35	A	T	2: 111,100,622 (GRCm39)	I30N	possibly damaging	Het
Or52e19	T	A	7: 102,959,432 (GRCm39)	L168Q	probably damaging	Het
Otog	A	T	7: 45,940,361 (GRCm39)		probably null	Het
Parp2	T	A	14: 51,056,836 (GRCm39)	L320H	probably damaging	Het
Poglut3	T	C	9: 53,307,150 (GRCm39)	Y365H	probably damaging	Het
Pola2	C	T	19: 5,993,250 (GRCm39)		probably null	Het
Poln	A	T	5: 34,264,494 (GRCm39)		probably benign	Het
Pomt1	T	A	2: 32,131,680 (GRCm39)	V123E	probably damaging	Het
Prom2	T	C	2: 127,374,802 (GRCm39)	Y578C	probably damaging	Het
Prss23	T	C	7: 89,159,599 (GRCm39)	T157A	probably damaging	Het
Sdk1	T	A	5: 141,598,950 (GRCm39)	V205E	probably damaging	Het
Sdk1	A	G	5: 142,147,681 (GRCm39)	K1771R	probably benign	Het
Sidt1	A	T	16: 44,102,234 (GRCm39)	S309T	possibly damaging	Het
Sirpa	T	A	2: 129,457,432 (GRCm39)	F169I	probably damaging	Het
Slc8a1	T	C	17: 81,955,916 (GRCm39)	N374S	probably damaging	Het
Sp110	C	T	1: 85,523,831 (GRCm39)		probably null	Het
Stard9	A	G	2: 120,509,934 (GRCm39)		probably null	Het
Synpr	A	G	14: 13,563,082 (GRCm38)	N105S	probably damaging	Het
Tbc1d16	T	C	11: 119,046,927 (GRCm39)	Y440C	probably damaging	Het
Trabd	A	G	15: 88,969,824 (GRCm39)	I313V	possibly damaging	Het
Trappc10	T	C	10: 78,046,610 (GRCm39)	R430G	probably damaging	Het
Trim50	A	G	5: 135,387,743 (GRCm39)	E145G	probably benign	Het
Uba2	A	T	7: 33,862,624 (GRCm39)	F105I	probably damaging	Het
Uba3	A	G	6: 97,176,230 (GRCm39)	V92A	possibly damaging	Het
Uhmk1	T	C	1: 170,038,628 (GRCm39)	K153R	probably damaging	Het
Vmn2r3	T	C	3: 64,194,810 (GRCm39)	K8R	possibly damaging	Het
Vmn2r3	T	A	3: 64,182,893 (GRCm39)	M269L	probably benign	Het
Xpot	G	T	10: 121,443,543 (GRCm39)		probably benign	Het
Zfp128	A	G	7: 12,624,949 (GRCm39)	Y439C	probably benign	Het
Zfy1	T	A	Y: 725,620 (GRCm39)	H715L	possibly damaging	Het
Zmym1	A	C	4: 126,941,872 (GRCm39)	L839V	probably damaging	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
R1505:Or8k41	UTSW	2	86,313,557 (GRCm39)	missense	possibly damaging	0.94
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'- AGATAGAAGCCACCTTGTCAG -3'
(R):5'- TGGGTTCTAGTGGCCATTCC -3'

Sequencing Primer
(F):5'- GTCACTGGACTTAGGTTGCACATAC -3'
(R):5'- AGTGGCCATTCCTTACATTTACAG -3'

Posted On

2014-06-23