Mutagenetix > Incidental Mutation

Incidental Mutation 'R7283:Or8k41'

565776

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

045361-MU

Accession Numbers

Essential gene?

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

Stock #

R7283 (G1)

Quality Score

225.009

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

100% (72/72)

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
4833439L19Rik	A	G	13: 54,700,504 (GRCm39)	V278A	probably benign	Het
Abcc3	C	T	11: 94,247,873 (GRCm39)	A1207T	probably benign	Het
Abce1	C	A	8: 80,411,885 (GRCm39)	G592*	probably null	Het
Acad10	A	C	5: 121,787,538 (GRCm39)	V137G	possibly damaging	Het
Adcy3	A	G	12: 4,253,563 (GRCm39)	I672V	not run	Het
Adgrb1	A	T	15: 74,452,512 (GRCm39)	Q1166L	possibly damaging	Het
Ankrd44	A	T	1: 54,768,955 (GRCm39)	N465K	probably damaging	Het
Avpr1b	A	G	1: 131,537,469 (GRCm39)	T418A	probably benign	Het
Azin1	G	A	15: 38,501,652 (GRCm39)	T33I	probably damaging	Het
Bicra	T	C	7: 15,706,425 (GRCm39)	T1339A	probably damaging	Het
Bltp2	A	G	11: 78,165,654 (GRCm39)	Q1346R	probably damaging	Het
Cacna1s	A	G	1: 136,001,446 (GRCm39)	Y299C	probably damaging	Het
Clip1	A	C	5: 123,751,857 (GRCm39)	C641W		Het
Clip3	T	C	7: 30,005,237 (GRCm39)	S524P	probably damaging	Het
Cnpy4	A	T	5: 138,191,144 (GRCm39)	H240L	probably benign	Het
Cyp2b19	T	C	7: 26,466,339 (GRCm39)	Y381H	probably damaging	Het
Cyp3a13	T	A	5: 137,903,818 (GRCm39)	N280I	probably benign	Het
Diaph3	A	G	14: 87,104,020 (GRCm39)	F788S	probably damaging	Het
Drc7	A	G	8: 95,798,207 (GRCm39)	N484S	probably damaging	Het
Erap1	G	A	13: 74,821,903 (GRCm39)		probably null	Het
Fat4	A	T	3: 38,943,842 (GRCm39)	I912F	probably damaging	Het
Hsd3b3	T	A	3: 98,649,673 (GRCm39)	K217*	probably null	Het
Igkv12-89	A	G	6: 68,812,061 (GRCm39)	V36A	probably damaging	Het
Invs	T	A	4: 48,392,526 (GRCm39)		probably null	Het
Ipo8	T	A	6: 148,725,979 (GRCm39)	Y30F	possibly damaging	Het
Kctd14	T	C	7: 97,100,693 (GRCm39)	M1T	probably null	Het
Klrb1c	A	T	6: 128,761,220 (GRCm39)	C136S	probably benign	Het
Morn2	A	G	17: 80,604,688 (GRCm39)	E48G	probably damaging	Het
Myh1	A	T	11: 67,092,670 (GRCm39)		probably null	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Nfxl1	A	G	5: 72,686,393 (GRCm39)	S603P	probably benign	Het
Nlrc3	G	A	16: 3,765,741 (GRCm39)	A351V	probably benign	Het
Nlrp4f	G	A	13: 65,343,352 (GRCm39)	R76*	probably null	Het
Or1e1f	T	C	11: 73,855,634 (GRCm39)	S67P	probably damaging	Het
Or52n1	G	T	7: 104,382,800 (GRCm39)	T257K	probably damaging	Het
Or5h22	A	T	16: 58,894,555 (GRCm39)	M296K	probably benign	Het
Or7e176	A	C	9: 20,171,555 (GRCm39)	I140L	probably damaging	Het
Papolg	A	G	11: 23,817,394 (GRCm39)	V601A	not run	Het
Pde4dip	T	C	3: 97,666,198 (GRCm39)	T349A	probably benign	Het
Pdlim5	T	C	3: 142,017,741 (GRCm39)		probably null	Het
Pkhd1l1	A	G	15: 44,366,676 (GRCm39)	N718S	probably benign	Het
Plcxd3	A	G	15: 4,546,401 (GRCm39)	H135R	probably damaging	Het
Plxna2	A	T	1: 194,327,191 (GRCm39)	Y375F	probably damaging	Het
Prkca	C	T	11: 108,231,471 (GRCm39)		probably null	Het
Prkdc	A	G	16: 15,535,628 (GRCm39)	S1663G	probably benign	Het
Ptbp3	T	C	4: 59,514,384 (GRCm39)	T80A	probably benign	Het
Ptpn4	C	T	1: 119,610,261 (GRCm39)	V696I	possibly damaging	Het
Pygl	A	T	12: 70,263,342 (GRCm39)	W175R	possibly damaging	Het
Rftn1	A	G	17: 50,354,469 (GRCm39)	Y298H	probably damaging	Het
Rit2	A	G	18: 31,449,892 (GRCm39)		probably null	Het
Runx1t1	G	A	4: 13,846,935 (GRCm39)	G240R	probably damaging	Het
Scn10a	A	G	9: 119,493,845 (GRCm39)		probably null	Het
Serpina16	A	C	12: 103,638,691 (GRCm39)		probably null	Het
Slc17a3	A	T	13: 24,039,831 (GRCm39)	M290L		Het
Slc6a4	A	T	11: 76,901,522 (GRCm39)	M86L	probably benign	Het
Spag7	A	T	11: 70,556,139 (GRCm39)	V46E	probably benign	Het
Spata31h1	G	A	10: 82,127,131 (GRCm39)	R1960W	possibly damaging	Het
Sptlc1	T	C	13: 53,498,914 (GRCm39)	I271V	probably benign	Het
Stk17b	A	C	1: 53,796,674 (GRCm39)	H364Q	probably benign	Het
Strc	T	C	2: 121,209,933 (GRCm39)	H130R	probably damaging	Het
Stxbp1	T	A	2: 32,705,026 (GRCm39)	D148V	probably damaging	Het
Tirap	G	A	9: 35,100,225 (GRCm39)	P153L	probably damaging	Het
Tmco3	G	A	8: 13,369,605 (GRCm39)		probably null	Het
Tmem51	T	A	4: 141,759,094 (GRCm39)	D218V	probably damaging	Het
Trim40	A	T	17: 37,193,554 (GRCm39)	D218E	probably benign	Het
Ttc21b	T	C	2: 66,039,062 (GRCm39)	D934G	probably damaging	Het
Vmn2r26	T	C	6: 124,002,914 (GRCm39)	L108P	probably damaging	Het
Washc2	C	A	6: 116,204,379 (GRCm39)	P429Q	probably damaging	Het
Wipi1	A	G	11: 109,502,137 (GRCm39)	M1T	probably null	Het
Zfp438	A	G	18: 5,214,712 (GRCm39)	V82A	probably damaging	Het
Zfp853	G	C	5: 143,273,493 (GRCm39)	A724G	unknown	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
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
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'- AAGATAGAAGCCACCTTGTCAG -3'
(R):5'- TGGGTTCTAGTGGCCATTCC -3'

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

Posted On

2019-06-26