Mutagenetix > Incidental Mutation

Incidental Mutation 'R6020:Or14j10'

478905

Institutional Source

Beutler Lab

Gene Symbol

Or14j10

Ensembl Gene

ENSMUSG00000061336

Gene Name

olfactory receptor family 14 subfamily J member 10

Synonyms

Olfr116, MOR218-2, GA_x6K02T2PSCP-2084102-2083137

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R6020 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37934559-37935524 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 37934858 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 223 (S223T)

Ref Sequence

ENSEMBL: ENSMUSP00000150977 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072265] [ENSMUST00000216128] [ENSMUST00000223366]

AlphaFold

Q923Q6

Predicted Effect

probably benign
Transcript: ENSMUST00000072265
AA Change: S223T

PolyPhen 2 Score 0.382 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000072115
Gene: ENSMUSG00000061336
AA Change: S223T

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	1.9e-45	PFAM
Pfam:7TM_GPCR_Srsx	35	305	2.1e-6	PFAM
Pfam:7tm_1	41	290	6.1e-20	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216128
AA Change: S223T

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000223366

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.8%
20x: 93.4%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	C	A	11: 110,036,439 (GRCm39)	V557F	possibly damaging	Het
Abi3	A	T	11: 95,732,851 (GRCm39)	L41*	probably null	Het
Actn1	C	A	12: 80,221,229 (GRCm39)		probably null	Het
Adamts15	G	T	9: 30,813,358 (GRCm39)	R936S	probably benign	Het
Angel2	T	C	1: 190,665,068 (GRCm39)	S22P	probably benign	Het
Ank2	T	G	3: 126,740,470 (GRCm39)		probably benign	Het
Astn1	A	G	1: 158,337,563 (GRCm39)	D423G	probably damaging	Het
Casp9	A	G	4: 141,523,849 (GRCm39)	D78G	probably damaging	Het
Cbr4	A	G	8: 61,940,887 (GRCm39)	D2G	probably benign	Het
Ccdc8	T	A	7: 16,730,506 (GRCm39)	L665H	probably damaging	Het
Cdh23	T	A	10: 60,167,105 (GRCm39)	N1847I	probably damaging	Het
Cnst	T	C	1: 179,437,440 (GRCm39)	W335R	probably benign	Het
Ddr2	T	A	1: 169,832,671 (GRCm39)	I130F	probably benign	Het
Dnah2	C	T	11: 69,391,665 (GRCm39)	A677T	probably benign	Het
Dzip3	C	A	16: 48,772,205 (GRCm39)	W488L	probably damaging	Het
Ephb3	T	G	16: 21,040,763 (GRCm39)	I637S	probably damaging	Het
Etv3	A	G	3: 87,436,671 (GRCm39)	D142G	probably benign	Het
Fabp5	C	T	3: 10,081,149 (GRCm39)	T126I	probably benign	Het
Fam13b	A	C	18: 34,627,827 (GRCm39)	Y125D	probably damaging	Het
Fsip2	C	A	2: 82,822,471 (GRCm39)	P6068Q	probably damaging	Het
Gm11232	A	G	4: 71,674,905 (GRCm39)	F199S	possibly damaging	Het
Gm5493	A	G	17: 22,967,034 (GRCm39)	K57E	probably benign	Het
Gm7334	A	G	17: 51,006,265 (GRCm39)	M184V	probably benign	Het
Gm9894	T	C	13: 67,911,954 (GRCm39)		noncoding transcript	Het
Gpd2	T	A	2: 57,254,525 (GRCm39)	N674K	probably benign	Het
H2-M10.6	A	G	17: 37,123,959 (GRCm39)	Y141C	probably damaging	Het
Heatr5a	C	T	12: 51,931,110 (GRCm39)	E1796K	probably benign	Het
Hexim2	A	G	11: 103,029,118 (GRCm39)	T57A	probably benign	Het
Hrg	A	T	16: 22,773,268 (GRCm39)	N134Y	probably damaging	Het
Hsd17b12	T	C	2: 93,864,322 (GRCm39)	T262A	probably damaging	Het
Irak3	G	T	10: 119,979,042 (GRCm39)	P470T	probably damaging	Het
Itgbl1	A	T	14: 124,083,977 (GRCm39)	D285V	probably damaging	Het
Kcp	A	T	6: 29,502,863 (GRCm39)	V164E	probably benign	Het
Klhdc7b	T	A	15: 89,272,589 (GRCm39)	M1157K	probably damaging	Het
Lcor	G	A	19: 41,571,986 (GRCm39)	G247D	possibly damaging	Het
Mdc1	G	A	17: 36,159,525 (GRCm39)	G635D	probably benign	Het
Mdc1	A	G	17: 36,168,464 (GRCm39)	K1690R	probably benign	Het
Mpp3	A	T	11: 101,909,365 (GRCm39)		probably benign	Het
Ncor2	G	T	5: 125,097,075 (GRCm39)	H2285N	probably benign	Het
Neb	T	A	2: 52,147,839 (GRCm39)	T2727S	probably benign	Het
Nkx6-2	T	C	7: 139,161,483 (GRCm39)	D234G	possibly damaging	Het
Nlrp9c	T	C	7: 26,084,150 (GRCm39)	I476M	probably benign	Het
Nrsn1	T	G	13: 25,437,355 (GRCm39)	Q191P	probably damaging	Het
Or1e30	C	T	11: 73,678,378 (GRCm39)	L205F	probably benign	Het
Or51ag1	T	A	7: 103,156,006 (GRCm39)	H49L	probably benign	Het
Patl1	T	G	19: 11,914,718 (GRCm39)	L623R	probably damaging	Het
Pdc	T	C	1: 150,209,117 (GRCm39)	I200T	probably benign	Het
Pdzk1	A	G	3: 96,775,742 (GRCm39)	D370G	probably benign	Het
Pglyrp3	A	T	3: 91,938,841 (GRCm39)	I339F	probably damaging	Het
Plxnb1	T	C	9: 108,945,679 (GRCm39)	V2070A	probably damaging	Het
Poln	G	A	5: 34,266,775 (GRCm39)	R461C	probably damaging	Het
Prl2b1	C	A	13: 27,567,491 (GRCm39)	V218L	probably damaging	Het
Pygl	T	C	12: 70,263,428 (GRCm39)	D55G	probably damaging	Het
Rif1	C	G	2: 51,985,856 (GRCm39)	L614V	probably damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rsrp1	T	C	4: 134,651,692 (GRCm39)	F152S	probably damaging	Het
Sim2	T	C	16: 93,898,110 (GRCm39)	S115P	probably damaging	Het
Slc17a1	T	A	13: 24,059,593 (GRCm39)	I108K	possibly damaging	Het
Slc30a8	A	G	15: 52,189,054 (GRCm39)	D223G	probably damaging	Het
Slc39a4	A	T	15: 76,500,342 (GRCm39)	N69K	probably benign	Het
Slc51a	T	G	16: 32,298,584 (GRCm39)	T58P	probably damaging	Het
Slc7a14	T	C	3: 31,278,261 (GRCm39)	H448R	probably benign	Het
Smc3	G	A	19: 53,613,594 (GRCm39)		probably null	Het
Sox6	A	T	7: 115,085,863 (GRCm39)	D659E	probably damaging	Het
Stard9	GCCC	GCC	2: 120,524,196 (GRCm39)		probably null	Het
Tsr1	C	T	11: 74,791,119 (GRCm39)		probably null	Het
Ttc12	T	C	9: 49,354,422 (GRCm39)	K565E	probably damaging	Het
Ube4b	A	T	4: 149,452,768 (GRCm39)	V386E	probably benign	Het
Ush2a	T	A	1: 188,460,293 (GRCm39)		probably null	Het
Usp5	C	A	6: 124,794,576 (GRCm39)		probably benign	Het
Vmn1r216	T	C	13: 23,284,105 (GRCm39)	F263L	probably benign	Het
Vmn2r88	T	A	14: 51,655,606 (GRCm39)	L606*	probably null	Het
Wee2	T	A	6: 40,426,554 (GRCm39)		probably null	Het
Zfhx3	T	C	8: 109,519,159 (GRCm39)	Y94H	probably damaging	Het
Zfp385c	G	A	11: 100,523,594 (GRCm39)	P120L	probably benign	Het
Zscan4-ps3	T	C	7: 11,344,228 (GRCm39)	F62S	probably damaging	Het

Other mutations in Or14j10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02434:Or14j10	APN	17	37,935,467 (GRCm39)	missense	possibly damaging	0.86
IGL02639:Or14j10	APN	17	37,934,878 (GRCm39)	missense	probably benign	0.01
IGL02663:Or14j10	APN	17	37,934,935 (GRCm39)	missense	probably benign	0.37
R0049:Or14j10	UTSW	17	37,935,024 (GRCm39)	missense	probably benign	0.02
R1260:Or14j10	UTSW	17	37,934,594 (GRCm39)	missense	probably benign	0.00
R1531:Or14j10	UTSW	17	37,935,243 (GRCm39)	nonsense	probably null
R3236:Or14j10	UTSW	17	37,935,127 (GRCm39)	missense	possibly damaging	0.65
R4083:Or14j10	UTSW	17	37,935,316 (GRCm39)	missense	probably damaging	1.00
R4308:Or14j10	UTSW	17	37,934,627 (GRCm39)	missense	possibly damaging	0.46
R4887:Or14j10	UTSW	17	37,934,782 (GRCm39)	missense	probably damaging	0.99
R5167:Or14j10	UTSW	17	37,934,642 (GRCm39)	nonsense	probably null
R5323:Or14j10	UTSW	17	37,935,046 (GRCm39)	missense	probably benign	0.22
R5496:Or14j10	UTSW	17	37,935,469 (GRCm39)	missense	probably benign	0.01
R5530:Or14j10	UTSW	17	37,934,698 (GRCm39)	missense	possibly damaging	0.72
R5643:Or14j10	UTSW	17	37,935,323 (GRCm39)	missense	probably benign	0.00
R5644:Or14j10	UTSW	17	37,935,323 (GRCm39)	missense	probably benign	0.00
R5798:Or14j10	UTSW	17	37,934,881 (GRCm39)	missense	probably benign	0.01
R7058:Or14j10	UTSW	17	37,934,597 (GRCm39)	missense	probably benign	0.00
R7453:Or14j10	UTSW	17	37,935,276 (GRCm39)	missense	probably benign	0.00
R7474:Or14j10	UTSW	17	37,935,277 (GRCm39)	missense	probably benign	0.30
R7565:Or14j10	UTSW	17	37,935,392 (GRCm39)	missense	probably damaging	0.99
R7646:Or14j10	UTSW	17	37,935,295 (GRCm39)	missense	probably damaging	1.00
Z1088:Or14j10	UTSW	17	37,935,320 (GRCm39)	missense	probably damaging	0.98
Z1187:Or14j10	UTSW	17	37,934,735 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TCAGTCAGTAGCAACAGGGC -3'
(R):5'- TACGTGGGCAGTGACAAGTG -3'

Sequencing Primer
(F):5'- TCAGTAGCAACAGGGCAAATAATTC -3'
(R):5'- TGGCTAAGCAGTGTAATTCCAG -3'

Posted On

2017-06-26