Mutagenetix > Incidental Mutation

Incidental Mutation 'R1973:Or10k2'

221253

Institutional Source

Beutler Lab

Gene Symbol

Or10k2

Ensembl Gene

ENSMUSG00000047286

Gene Name

olfactory receptor family 10 subfamily K member 2

Synonyms

Olfr370, GA_x6K02T2NUPS-11609807-11610751, MOR267-16

MMRRC Submission

039986-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.136) question?

Stock #

R1973 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

84267722-84268817 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 84268421 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 216 (V216A)

Ref Sequence

ENSEMBL: ENSMUSP00000149251 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058609] [ENSMUST00000209408] [ENSMUST00000214156]

AlphaFold

E9Q848

Predicted Effect

probably benign
Transcript: ENSMUST00000058609
AA Change: V216A

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

SMART Domains

Protein: ENSMUSP00000055435
Gene: ENSMUSG00000047286
AA Change: V216A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	1.6e-44	PFAM
Pfam:7tm_1	41	290	6.2e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000209408
AA Change: V216A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212153

Predicted Effect

probably benign
Transcript: ENSMUST00000214156
AA Change: V216A

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.9%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	A	C	5: 8,862,746 (GRCm39)	I143L	probably benign	Het
Acp7	T	A	7: 28,307,414 (GRCm39)	D481V	probably damaging	Het
AI597479	T	A	1: 43,150,286 (GRCm39)	I132K	probably benign	Het
Anxa13	T	C	15: 58,228,030 (GRCm39)		noncoding transcript	Het
Brca1	A	T	11: 101,417,229 (GRCm39)	C302S	probably benign	Het
Brd8	T	A	18: 34,741,066 (GRCm39)	D420V	probably damaging	Het
Cacna1g	A	T	11: 94,350,603 (GRCm39)	V414E	possibly damaging	Het
Ccdc142	T	A	6: 83,079,544 (GRCm39)	C294S	probably benign	Het
Cdh20	G	A	1: 109,988,862 (GRCm39)	V255I	probably benign	Het
Chat	C	T	14: 32,146,148 (GRCm39)	V342I	probably benign	Het
Chd6	A	G	2: 160,808,307 (GRCm39)	S1636P	probably damaging	Het
Clec4a1	A	G	6: 122,901,793 (GRCm39)		probably null	Het
Col6a3	A	T	1: 90,731,897 (GRCm39)	I1452N	probably damaging	Het
Dennd2c	T	C	3: 103,039,014 (GRCm39)	V54A	probably benign	Het
Dnah1	C	T	14: 30,987,348 (GRCm39)	W3550*	probably null	Het
Efl1	T	C	7: 82,412,085 (GRCm39)	S825P	probably damaging	Het
Entrep2	A	T	7: 64,425,516 (GRCm39)	I192N	possibly damaging	Het
Faxc	G	A	4: 21,993,405 (GRCm39)	E350K	probably benign	Het
Frem2	T	A	3: 53,559,653 (GRCm39)	Y1618F	probably benign	Het
Fubp3	A	G	2: 31,493,298 (GRCm39)	T6A	probably benign	Het
Gm5814	A	T	17: 47,721,474 (GRCm39)	M63L	probably benign	Het
Gpr149	T	C	3: 62,438,216 (GRCm39)	K647R	probably benign	Het
Iqgap3	T	A	3: 87,991,235 (GRCm39)		probably null	Het
Kcnh3	T	C	15: 99,127,281 (GRCm39)	V359A	probably damaging	Het
Kit	G	A	5: 75,776,102 (GRCm39)	A295T	probably damaging	Het
Krt77	G	T	15: 101,769,679 (GRCm39)	A397E	probably damaging	Het
Mis18bp1	G	C	12: 65,195,850 (GRCm39)	S638*	probably null	Het
Neurl4	C	T	11: 69,800,118 (GRCm39)	P1091S	probably benign	Het
Nod2	A	T	8: 89,379,501 (GRCm39)	M8L	probably damaging	Het
Nos1	A	G	5: 118,074,491 (GRCm39)	T1046A	possibly damaging	Het
Nsfl1c	G	T	2: 151,347,334 (GRCm39)	S202I	probably damaging	Het
Nuak2	A	T	1: 132,258,340 (GRCm39)	H257L	probably damaging	Het
Nwd1	T	C	8: 73,431,590 (GRCm39)	V1195A	possibly damaging	Het
Or2ag12	T	C	7: 106,277,426 (GRCm39)	D89G	probably benign	Het
Or52a20	T	A	7: 103,365,804 (GRCm39)	M1K	probably null	Het
Or8b40	T	A	9: 38,027,863 (GRCm39)	M257K	possibly damaging	Het
Or8g51	A	G	9: 38,609,164 (GRCm39)	V170A	probably damaging	Het
Pclo	G	T	5: 14,726,073 (GRCm39)		probably null	Het
Pnpla7	A	G	2: 24,906,629 (GRCm39)	D664G	probably damaging	Het
Prl8a1	G	A	13: 27,760,917 (GRCm39)	T105I	probably benign	Het
Ptger1	C	A	8: 84,396,083 (GRCm39)	T380K	probably benign	Het
Ptk7	G	A	17: 46,897,733 (GRCm39)	Q282*	probably null	Het
Ptpn18	G	T	1: 34,502,190 (GRCm39)	D45Y	probably damaging	Het
Rab11fip3	T	C	17: 26,243,365 (GRCm39)	D589G	probably damaging	Het
Rara	A	G	11: 98,862,496 (GRCm39)	N299S	possibly damaging	Het
Rpl13a	T	A	7: 44,775,419 (GRCm39)	K368*	probably null	Het
Rslcan18	T	C	13: 67,256,087 (GRCm39)		probably benign	Het
Rtel1	A	G	2: 180,993,419 (GRCm39)	Y731C	probably benign	Het
Sec16a	A	T	2: 26,316,501 (GRCm39)	S1666R	probably damaging	Het
Sis	A	G	3: 72,828,337 (GRCm39)	F1217S	probably damaging	Het
Slc10a7	T	A	8: 79,423,962 (GRCm39)		probably null	Het
Slc22a7	A	G	17: 46,748,016 (GRCm39)	V214A	probably damaging	Het
Slc26a8	T	C	17: 28,882,579 (GRCm39)	I249V	probably benign	Het
Slc38a4	T	C	15: 96,897,478 (GRCm39)	K446E	probably benign	Het
Sned1	G	A	1: 93,192,795 (GRCm39)	G361S	probably damaging	Het
Spef2	T	G	15: 9,663,152 (GRCm39)	*876C	probably null	Het
Spink11	A	G	18: 44,329,205 (GRCm39)	C14R	unknown	Het
Stk4	C	T	2: 163,942,448 (GRCm39)	T360M	probably benign	Het
Tnfaip3	T	C	10: 18,880,252 (GRCm39)	N605S	probably damaging	Het
Trpc1	A	G	9: 95,605,308 (GRCm39)	M283T	probably benign	Het
Ttn	A	G	2: 76,544,706 (GRCm39)	S32799P	probably damaging	Het
Ttn	A	G	2: 76,550,443 (GRCm39)	I31613T	probably damaging	Het
Ugt1a10	A	T	1: 87,983,769 (GRCm39)	Y189F	probably damaging	Het
Usp32	G	T	11: 84,994,757 (GRCm39)	L52I	probably benign	Het
Usp33	A	G	3: 152,065,923 (GRCm39)	T68A	possibly damaging	Het
Vmn1r7	A	G	6: 57,002,011 (GRCm39)	F83S	probably benign	Het
Vmn2r5	C	T	3: 64,411,642 (GRCm39)	E309K	probably damaging	Het
Vps26c	T	C	16: 94,302,405 (GRCm39)	N267S	probably damaging	Het
Wdr43	A	G	17: 71,947,235 (GRCm39)	N364D	probably benign	Het
Zdbf2	C	A	1: 63,348,860 (GRCm39)	P2413Q	unknown	Het

Other mutations in Or10k2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01621:Or10k2	APN	8	84,268,247 (GRCm39)	missense	probably benign	0.00
IGL02481:Or10k2	APN	8	84,268,015 (GRCm39)	missense	possibly damaging	0.70
IGL02499:Or10k2	APN	8	84,267,812 (GRCm39)	missense	possibly damaging	0.83
IGL02832:Or10k2	APN	8	84,268,100 (GRCm39)	missense	probably damaging	1.00
R0315:Or10k2	UTSW	8	84,268,001 (GRCm39)	missense	possibly damaging	0.90
R0330:Or10k2	UTSW	8	84,268,142 (GRCm39)	missense	probably damaging	1.00
R1737:Or10k2	UTSW	8	84,268,045 (GRCm39)	missense	probably benign	0.05
R2157:Or10k2	UTSW	8	84,268,250 (GRCm39)	missense	probably benign	0.00
R4687:Or10k2	UTSW	8	84,268,489 (GRCm39)	missense	probably damaging	1.00
R5639:Or10k2	UTSW	8	84,267,973 (GRCm39)	missense	probably damaging	1.00
R6150:Or10k2	UTSW	8	84,267,782 (GRCm39)	missense	probably benign	0.02
R6590:Or10k2	UTSW	8	84,267,904 (GRCm39)	missense	probably benign	0.08
R6682:Or10k2	UTSW	8	84,268,187 (GRCm39)	missense	probably benign	0.00
R6690:Or10k2	UTSW	8	84,267,904 (GRCm39)	missense	probably benign	0.08
R7846:Or10k2	UTSW	8	84,268,526 (GRCm39)	missense	probably damaging	1.00
R7886:Or10k2	UTSW	8	84,268,576 (GRCm39)	missense	possibly damaging	0.95
R8349:Or10k2	UTSW	8	84,268,301 (GRCm39)	missense	probably damaging	1.00
R8361:Or10k2	UTSW	8	84,268,715 (GRCm39)	missense	possibly damaging	0.86
R8449:Or10k2	UTSW	8	84,268,301 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AATCACATCCCTGGTGTTTCG -3'
(R):5'- GCTGTAGATGACTGGATTGAATAACG -3'

Sequencing Primer
(F):5'- AATCACATCCCTGGTGTTTCGTCTAC -3'
(R):5'- CGGAGTTAGGATAGTGTAGGATAC -3'

Posted On

2014-08-25