Mutagenetix > Incidental Mutation

Incidental Mutation 'R7208:Or12k8'

560842

Institutional Source

Beutler Lab

Gene Symbol

Or12k8

Ensembl Gene

ENSMUSG00000075378

Gene Name

olfactory receptor family 12 subfamily K member 8

Synonyms

GA_x6K02T2NLDC-33777519-33776551, MOR159-3, Olfr361

MMRRC Submission

045285-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

R7208 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36974790-36975758 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36975670 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 30 (V30A)

Ref Sequence

ENSEMBL: ENSMUSP00000149770 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100145] [ENSMUST00000214969] [ENSMUST00000216663]

AlphaFold

Q8VF16

Predicted Effect

probably benign
Transcript: ENSMUST00000100145
AA Change: V30A

PolyPhen 2 Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000097723
Gene: ENSMUSG00000075378
AA Change: V30A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	1.5e-44	PFAM
Pfam:7tm_1	41	289	2.3e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000214969
AA Change: V30A

PolyPhen 2 Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000216663
AA Change: V30A

PolyPhen 2 Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.4%

Validation Efficiency

99% (76/77)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	T	C	6: 23,074,629 (GRCm39)	K854E	probably damaging	Het
Abcd2	G	T	15: 91,074,885 (GRCm39)	Y309*	probably null	Het
Ache	G	A	5: 137,289,751 (GRCm39)	G360D	probably damaging	Het
Acot12	T	C	13: 91,929,361 (GRCm39)	L396P	probably benign	Het
Acox2	T	G	14: 8,241,303 (GRCm38)	D603A	probably benign	Het
Adam3	C	A	8: 25,201,417 (GRCm39)	K245N	probably damaging	Het
Ankhd1	T	C	18: 36,758,081 (GRCm39)	I925T	probably benign	Het
Arhgap27	C	T	11: 103,251,585 (GRCm39)	V48M	probably damaging	Het
Atm	A	T	9: 53,423,308 (GRCm39)		probably null	Het
B4galt4	T	A	16: 38,574,302 (GRCm39)	F92Y	probably damaging	Het
Brwd1	C	T	16: 95,837,159 (GRCm39)	R891Q	probably damaging	Het
Calcr	T	C	6: 3,687,612 (GRCm39)	Q462R	probably benign	Het
Ccdc112	T	C	18: 46,420,698 (GRCm39)	R351G	probably damaging	Het
Ccdc80	T	G	16: 44,917,073 (GRCm39)	S610A	probably benign	Het
Cdh20	C	A	1: 104,881,796 (GRCm39)	N420K	possibly damaging	Het
Cntn3	G	A	6: 102,255,383 (GRCm39)	R172*	probably null	Het
Ctnnd1	G	T	2: 84,452,390 (GRCm39)	Q78K	possibly damaging	Het
D16Ertd472e	A	T	16: 78,372,814 (GRCm39)	L41H	probably damaging	Het
Dclk2	A	T	3: 86,706,909 (GRCm39)		probably null	Het
Dmwd	C	T	7: 18,814,234 (GRCm39)	H295Y	probably benign	Het
Dnai2	T	C	11: 114,647,988 (GRCm39)	V588A	unknown	Het
Dnai4	T	G	4: 102,923,549 (GRCm39)	I427L	probably benign	Het
Dtx4	C	T	19: 12,459,437 (GRCm39)		probably null	Het
Dync2h1	C	A	9: 7,141,059 (GRCm39)	D1323Y	probably damaging	Het
Fcgbp	T	A	7: 27,803,446 (GRCm39)	H1683Q	probably benign	Het
Fndc3c1	G	C	X: 105,478,679 (GRCm39)	L724V	possibly damaging	Het
Gm9195	A	G	14: 72,689,192 (GRCm39)	S1876P	possibly damaging	Het
Grhl2	A	C	15: 37,335,980 (GRCm39)	K431T	probably damaging	Het
Grm7	T	G	6: 111,335,530 (GRCm39)	I647S	possibly damaging	Het
Gtf2ird1	T	C	5: 134,439,948 (GRCm39)	N94S	probably benign	Het
Gvin2	A	C	7: 105,551,386 (GRCm39)	S555R	possibly damaging	Het
Hmgcs1	G	T	13: 120,162,620 (GRCm39)	G195W	probably damaging	Het
Hrc	A	T	7: 44,985,989 (GRCm39)	Y380F	possibly damaging	Het
Kcnu1	C	T	8: 26,409,665 (GRCm39)	Q863*	probably null	Het
Lemd2	G	A	17: 27,415,165 (GRCm39)	P300L	probably damaging	Het
Lnpep	A	T	17: 17,773,172 (GRCm39)	Y665*	probably null	Het
Lrfn1	A	G	7: 28,166,564 (GRCm39)	T653A	probably benign	Het
Ly6g6c	A	G	17: 35,286,387 (GRCm39)	T8A	unknown	Het
Mcm5	T	C	8: 75,848,344 (GRCm39)		probably null	Het
Med28	A	T	5: 45,680,794 (GRCm39)	D86V	probably damaging	Het
Mup11	A	G	4: 60,615,725 (GRCm39)	S171P	possibly damaging	Het
Nckap1	A	G	2: 80,370,542 (GRCm39)	F383L	probably benign	Het
Nid1	G	C	13: 13,642,970 (GRCm39)	G303R	probably benign	Het
Nkain3	A	G	4: 20,282,892 (GRCm39)	V147A	probably benign	Het
Pde9a	G	A	17: 31,639,258 (GRCm39)	V63I	possibly damaging	Het
Pdlim2	T	A	14: 70,411,826 (GRCm39)	I69F	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Phf20l1	T	C	15: 66,476,638 (GRCm39)	I245T	probably benign	Het
Prmt8	C	T	6: 127,666,792 (GRCm39)	R394H	possibly damaging	Het
Prorp	A	G	12: 55,355,430 (GRCm39)		probably null	Het
Prpf4b	T	A	13: 35,067,994 (GRCm39)	D274E	unknown	Het
Psmd6	A	T	14: 14,112,225 (GRCm38)		probably null	Het
Rgs16	T	C	1: 153,617,416 (GRCm39)	L69P	probably damaging	Het
Robo3	A	T	9: 37,336,020 (GRCm39)	I482N	probably damaging	Het
Scara3	C	T	14: 66,168,715 (GRCm39)	V301I	possibly damaging	Het
Serpina1b	T	A	12: 103,694,553 (GRCm39)	H397L	probably benign	Het
Skint11	T	A	4: 114,088,944 (GRCm39)	L246Q	probably damaging	Het
Skint5	T	A	4: 113,396,536 (GRCm39)	R1212S	unknown	Het
Slc11a2	T	C	15: 100,300,213 (GRCm39)	D348G	probably benign	Het
Slc15a2	T	C	16: 36,576,643 (GRCm39)	K495E	probably benign	Het
Son	T	G	16: 91,458,990 (GRCm39)	D2072E	unknown	Het
Stau1	A	G	2: 166,805,494 (GRCm39)	V34A	probably damaging	Het
Stk3	G	T	15: 35,073,262 (GRCm39)	L153I	possibly damaging	Het
Swi5	A	T	2: 32,177,922 (GRCm39)	V13E	probably benign	Het
Syne2	A	T	12: 76,078,172 (GRCm39)		probably null	Het
Synm	T	C	7: 67,384,663 (GRCm39)	M558V	probably benign	Het
Tep1	T	A	14: 51,062,013 (GRCm39)		probably null	Het
Tmc6	A	G	11: 117,667,151 (GRCm39)	V149A	probably benign	Het
Tmem214	T	A	5: 31,028,065 (GRCm39)	V95E	possibly damaging	Het
Tnnt2	T	A	1: 135,778,114 (GRCm39)		probably null	Het
Txlna	A	G	4: 129,525,071 (GRCm39)		probably null	Het
Vmn2r26	T	C	6: 124,038,948 (GRCm39)	I841T	probably damaging	Het
Wasf2	G	A	4: 132,923,045 (GRCm39)	V452I	probably damaging	Het
Wdr62	C	T	7: 29,951,761 (GRCm39)	D673N	probably damaging	Het
Wdr95	C	T	5: 149,518,836 (GRCm39)	T559I	probably benign	Het
Zbtb40	A	T	4: 136,726,937 (GRCm39)		probably null	Het
Zfat	T	C	15: 68,051,856 (GRCm39)	E646G	probably benign	Het

Other mutations in Or12k8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01531:Or12k8	APN	2	36,975,407 (GRCm39)	missense	possibly damaging	0.94
IGL02210:Or12k8	APN	2	36,975,631 (GRCm39)	missense	possibly damaging	0.54
IGL03180:Or12k8	APN	2	36,975,722 (GRCm39)	missense	possibly damaging	0.58
R0571:Or12k8	UTSW	2	36,975,346 (GRCm39)	missense	probably benign	0.00
R1715:Or12k8	UTSW	2	36,975,188 (GRCm39)	missense	probably damaging	1.00
R1853:Or12k8	UTSW	2	36,975,232 (GRCm39)	missense	probably damaging	1.00
R2403:Or12k8	UTSW	2	36,974,986 (GRCm39)	missense	probably benign	0.34
R3009:Or12k8	UTSW	2	36,975,089 (GRCm39)	missense	probably benign	0.00
R3713:Or12k8	UTSW	2	36,975,517 (GRCm39)	missense	possibly damaging	0.73
R4355:Or12k8	UTSW	2	36,974,942 (GRCm39)	missense	probably benign	0.44
R4476:Or12k8	UTSW	2	36,975,073 (GRCm39)	missense	probably damaging	1.00
R5191:Or12k8	UTSW	2	36,974,990 (GRCm39)	missense	probably benign	0.00
R5387:Or12k8	UTSW	2	36,975,731 (GRCm39)	missense	possibly damaging	0.58
R5529:Or12k8	UTSW	2	36,974,921 (GRCm39)	missense	possibly damaging	0.67
R5891:Or12k8	UTSW	2	36,974,990 (GRCm39)	missense	probably benign	0.00
R7078:Or12k8	UTSW	2	36,975,608 (GRCm39)	missense	possibly damaging	0.93
R7793:Or12k8	UTSW	2	36,974,933 (GRCm39)	missense	possibly damaging	0.81
R8007:Or12k8	UTSW	2	36,974,855 (GRCm39)	missense	probably damaging	1.00
R8843:Or12k8	UTSW	2	36,975,307 (GRCm39)	missense	probably damaging	1.00
R8970:Or12k8	UTSW	2	36,975,478 (GRCm39)	missense	probably benign	0.00
R9155:Or12k8	UTSW	2	36,975,016 (GRCm39)	missense	probably benign	0.01
R9595:Or12k8	UTSW	2	36,975,204 (GRCm39)	missense	possibly damaging	0.78
Z1176:Or12k8	UTSW	2	36,975,648 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CTGTTTACAGAAAGTGTGTGCACC -3'
(R):5'- GCACAGGTTTCACAAGTTCCC -3'

Sequencing Primer
(F):5'- CAGCATCTGGGGAACAATGATAGTTG -3'
(R):5'- CCAATCTGGGATGCAGATACCTG -3'

Posted On

2019-06-26