Mutagenetix > Incidental Mutation

Incidental Mutation 'R9396:Or8k28'

710812

Institutional Source

Beutler Lab

Gene Symbol

Or8k28

Ensembl Gene

ENSMUSG00000075181

Gene Name

olfactory receptor family 8 subfamily K member 28

Synonyms

Olfr1066, MOR188-8, MOR256-52P, GA_x6K02T2Q125-47925557-47924616

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R9396 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86285672-86286613 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 86285845 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 257 (C257S)

Ref Sequence

ENSEMBL: ENSMUSP00000097470 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099885] [ENSMUST00000213789] [ENSMUST00000216162] [ENSMUST00000217586]

AlphaFold

A2AK62

Predicted Effect

probably benign
Transcript: ENSMUST00000099885
AA Change: C257S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000097470
Gene: ENSMUSG00000075181
AA Change: C257S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	1.1e-50	PFAM
Pfam:7TM_GPCR_Srsx	35	172	1.9e-6	PFAM
Pfam:7tm_1	41	290	1.3e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213789

Predicted Effect

probably benign
Transcript: ENSMUST00000216162

Predicted Effect

probably benign
Transcript: ENSMUST00000217586

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (56/57)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg8	T	A	17: 85,000,282 (GRCm39)	F281I	probably damaging	Het
Acad8	A	G	9: 26,887,041 (GRCm39)	M402T	probably damaging	Het
Apcdd1	C	T	18: 63,055,731 (GRCm39)		probably benign	Het
Apol7a	T	C	15: 77,273,925 (GRCm39)	E179G	possibly damaging	Het
Asmt	A	G	X: 169,110,141 (GRCm39)	T217A	probably benign	Het
Cadm2	T	C	16: 66,544,102 (GRCm39)	Y318C	probably damaging	Het
Cckar	G	A	5: 53,864,623 (GRCm39)	T26M	probably damaging	Het
Cd300ld	G	A	11: 114,878,230 (GRCm39)	T94I	probably damaging	Het
Cdk5rap2	A	G	4: 70,172,903 (GRCm39)	Y1390H	possibly damaging	Het
Cdk5rap2	C	T	4: 70,182,895 (GRCm39)	S1268N	probably damaging	Het
Csrnp3	C	T	2: 65,832,841 (GRCm39)	R127C	probably damaging	Het
Dsc2	T	A	18: 20,174,773 (GRCm39)	R501*	probably null	Het
Dusp2	C	T	2: 127,179,638 (GRCm39)	R294C	probably damaging	Het
Edrf1	A	G	7: 133,261,838 (GRCm39)	K878E	possibly damaging	Het
Evc	T	C	5: 37,476,434 (GRCm39)	T372A	possibly damaging	Het
Fcgr1	T	A	3: 96,194,390 (GRCm39)	K166*	probably null	Het
Fstl4	C	A	11: 52,664,778 (GRCm39)	P36Q	probably benign	Het
Gas2l2	A	T	11: 83,313,659 (GRCm39)	I551N	probably benign	Het
Hc	G	T	2: 34,927,615 (GRCm39)	S333*	probably null	Het
Ibsp	A	G	5: 104,458,297 (GRCm39)	Y278C	probably damaging	Het
Ifitm10	A	T	7: 141,924,704 (GRCm39)	V45D	probably damaging	Het
Kcnc3	T	C	7: 44,240,937 (GRCm39)	S210P	possibly damaging	Het
Klhl3	T	G	13: 58,161,662 (GRCm39)	T531P	probably damaging	Het
Mapt	C	A	11: 104,189,555 (GRCm39)	P191Q	possibly damaging	Het
Myh9	T	C	15: 77,647,496 (GRCm39)	T1840A	probably benign	Het
Myof	A	T	19: 37,923,294 (GRCm39)	C1320S	probably damaging	Het
Myom3	G	T	4: 135,513,199 (GRCm39)	V626L	probably benign	Het
Nalf2	C	T	X: 98,889,097 (GRCm39)	R321W	probably damaging	Het
Ndor1	A	G	2: 25,138,921 (GRCm39)	L321P	probably benign	Het
Nhsl1	T	A	10: 18,399,749 (GRCm39)	M291K	probably damaging	Het
Nubp2	C	T	17: 25,103,476 (GRCm39)	V134I	probably benign	Het
Nuf2	T	C	1: 169,337,917 (GRCm39)	I287V	probably benign	Het
Or1d2	T	A	11: 74,256,089 (GRCm39)	M198K	probably benign	Het
Or2n1	T	A	17: 38,486,421 (GRCm39)	W149R	probably damaging	Het
Or4k42	A	G	2: 111,319,864 (GRCm39)	L213P	probably benign	Het
Or51i2	A	G	7: 103,689,720 (GRCm39)	N239S	probably benign	Het
Or55b4	A	C	7: 102,134,180 (GRCm39)	V49G	possibly damaging	Het
Or5k3	G	A	16: 58,969,302 (GRCm39)	V30M	probably damaging	Het
Pals1	G	T	12: 78,871,521 (GRCm39)	R367L	possibly damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Ppp1r12a	A	G	10: 108,100,571 (GRCm39)	E863G	probably damaging	Het
Pskh1	C	T	8: 106,640,091 (GRCm39)	T257M	possibly damaging	Het
Rasgef1b	T	C	5: 99,377,188 (GRCm39)	I334V	probably benign	Het
Rnf180	T	A	13: 105,318,027 (GRCm39)	K462*	probably null	Het
Sin3a	A	G	9: 57,008,445 (GRCm39)	D455G	probably benign	Het
Slc15a4	A	G	5: 127,694,463 (GRCm39)		probably benign	Het
Slc2a13	T	C	15: 91,227,915 (GRCm39)	T426A	probably benign	Het
Smarca5	T	C	8: 81,463,358 (GRCm39)	K70R	probably benign	Het
Smg1	A	G	7: 117,807,303 (GRCm39)	V182A	unknown	Het
Stim1	G	A	7: 102,064,592 (GRCm39)	V221I	possibly damaging	Het
Tbx18	T	C	9: 87,609,432 (GRCm39)	D201G	probably damaging	Het
Tcf25	A	G	8: 124,127,831 (GRCm39)	E630G	probably benign	Het
Tm7sf3	T	C	6: 146,523,472 (GRCm39)	N135S	possibly damaging	Het
Togaram1	A	G	12: 65,014,429 (GRCm39)	N560S	probably damaging	Het
Unc13d	A	G	11: 115,966,529 (GRCm39)		probably null	Het
Zfp445	A	C	9: 122,681,581 (GRCm39)	S787A	probably benign	Het
Zfp949	T	C	9: 88,449,260 (GRCm39)	W22R	probably damaging	Het

Other mutations in Or8k28

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01661:Or8k28	APN	2	86,285,846 (GRCm39)	missense	possibly damaging	0.92
IGL01668:Or8k28	APN	2	86,285,746 (GRCm39)	missense	probably damaging	1.00
IGL02016:Or8k28	APN	2	86,285,841 (GRCm39)	missense	probably damaging	0.99
R0396:Or8k28	UTSW	2	86,286,363 (GRCm39)	missense	possibly damaging	0.54
R0980:Or8k28	UTSW	2	86,285,704 (GRCm39)	missense	probably benign	0.01
R0987:Or8k28	UTSW	2	86,285,891 (GRCm39)	nonsense	probably null
R1169:Or8k28	UTSW	2	86,285,931 (GRCm39)	missense	possibly damaging	0.85
R2001:Or8k28	UTSW	2	86,285,817 (GRCm39)	missense	probably benign	0.45
R2002:Or8k28	UTSW	2	86,285,817 (GRCm39)	missense	probably benign	0.45
R2265:Or8k28	UTSW	2	86,286,558 (GRCm39)	missense	possibly damaging	0.77
R3811:Or8k28	UTSW	2	86,285,691 (GRCm39)	missense	probably benign	0.21
R4579:Or8k28	UTSW	2	86,285,859 (GRCm39)	missense	probably damaging	0.99
R4726:Or8k28	UTSW	2	86,286,580 (GRCm39)	missense	possibly damaging	0.90
R4768:Or8k28	UTSW	2	86,285,994 (GRCm39)	nonsense	probably null
R4871:Or8k28	UTSW	2	86,286,153 (GRCm39)	missense	possibly damaging	0.95
R5304:Or8k28	UTSW	2	86,285,779 (GRCm39)	missense	probably damaging	1.00
R6037:Or8k28	UTSW	2	86,286,133 (GRCm39)	missense	probably benign	0.14
R6037:Or8k28	UTSW	2	86,286,133 (GRCm39)	missense	probably benign	0.14
R7080:Or8k28	UTSW	2	86,285,835 (GRCm39)	nonsense	probably null
R7223:Or8k28	UTSW	2	86,286,211 (GRCm39)	missense	possibly damaging	0.78
R7378:Or8k28	UTSW	2	86,286,412 (GRCm39)	missense	probably benign	0.10
R7465:Or8k28	UTSW	2	86,286,150 (GRCm39)	missense	probably benign	0.07
R7598:Or8k28	UTSW	2	86,286,234 (GRCm39)	missense	probably damaging	0.98
R8524:Or8k28	UTSW	2	86,285,961 (GRCm39)	missense	probably damaging	1.00
R8703:Or8k28	UTSW	2	86,286,244 (GRCm39)	missense	possibly damaging	0.95
R8818:Or8k28	UTSW	2	86,286,078 (GRCm39)	missense	probably damaging	1.00
R8954:Or8k28	UTSW	2	86,285,892 (GRCm39)	missense	probably damaging	1.00
X0025:Or8k28	UTSW	2	86,286,213 (GRCm39)	missense	probably benign	0.16

Predicted Primers

PCR Primer
(F):5'- CACACAGAATTTAACCTTGGTGTTC -3'
(R):5'- TTGGCCTGCTCAAACACAC -3'

Sequencing Primer
(F):5'- CAGAATTTAACCTTGGTGTTCTTTTC -3'
(R):5'- TGCTCAAACACACATGAAATTGAGG -3'

Posted On

2022-04-18