Mutagenetix > Incidental Mutation

Incidental Mutation 'R8350:Or1j14'

660199

Institutional Source

Beutler Lab

Gene Symbol

Or1j14

Ensembl Gene

ENSMUSG00000111869

Gene Name

olfactory receptor family 1 subfamily J member 14

Synonyms

GA_x6K02T2NLDC-33222024-33222962, MOR136-4, Olfr342

MMRRC Submission

067868-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.355) question?

Stock #

R8350 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36415010-36420802 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 36418176 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 251 (Y251N)

Ref Sequence

ENSEMBL: ENSMUSP00000149751 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074192] [ENSMUST00000216275]

AlphaFold

Q8VGK7

Predicted Effect

probably damaging
Transcript: ENSMUST00000074192
AA Change: Y251N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000073818
Gene: ENSMUSG00000111869
AA Change: Y251N

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	4.7e-56	PFAM
Pfam:7tm_1	41	290	2e-23	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000216275
AA Change: Y251N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (59/59)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	G	T	5: 8,978,578 (GRCm39)		probably null	Het
Adam29	A	G	8: 56,325,224 (GRCm39)	V410A	possibly damaging	Het
Adamts3	T	C	5: 89,850,815 (GRCm39)	T575A	probably damaging	Het
Ankmy1	T	C	1: 92,804,353 (GRCm39)	K877E	possibly damaging	Het
Arpin	A	T	7: 79,581,615 (GRCm39)	I35N	possibly damaging	Het
BC030500	T	C	8: 59,365,388 (GRCm39)	I13T	unknown	Het
Bcas1	T	C	2: 170,248,220 (GRCm39)	N234D	possibly damaging	Het
Clca3a2	C	T	3: 144,783,668 (GRCm39)	G649E	probably benign	Het
Cnot2	A	T	10: 116,322,181 (GRCm39)	L516Q	probably damaging	Het
Ctdp1	C	A	18: 80,512,494 (GRCm39)	V90L	probably benign	Het
Cyb5b	A	G	8: 107,896,552 (GRCm39)	Y91C	possibly damaging	Het
Cystm1	T	C	18: 36,526,303 (GRCm39)		probably benign	Het
Dnhd1	C	A	7: 105,327,231 (GRCm39)	Q727K	probably damaging	Het
Dpf3	G	A	12: 83,397,625 (GRCm39)	R80C	probably damaging	Het
Ehmt2	C	T	17: 35,127,667 (GRCm39)	T882M	probably damaging	Het
Fam136a	A	G	6: 86,345,795 (GRCm39)	K104R	probably benign	Het
Fcgbp	T	C	7: 27,793,614 (GRCm39)	V1172A	probably benign	Het
Foxc1	C	T	13: 31,991,548 (GRCm39)	Q120*	probably null	Het
Grin1	G	A	2: 25,188,323 (GRCm39)	R448C	probably damaging	Het
Igsf10	G	A	3: 59,238,949 (GRCm39)	P411S	probably damaging	Het
Irgq	T	A	7: 24,233,165 (GRCm39)	D335E	probably benign	Het
Kndc1	A	G	7: 139,503,960 (GRCm39)	Y1088C	probably damaging	Het
Llgl1	A	G	11: 60,602,947 (GRCm39)	E874G	probably damaging	Het
Lrp8	A	G	4: 107,704,661 (GRCm39)	N168D	probably benign	Het
Lyst	T	A	13: 13,824,973 (GRCm39)	C1529*	probably null	Het
Mau2	A	T	8: 70,495,242 (GRCm39)	Y32N	probably damaging	Het
Mios	T	A	6: 8,227,998 (GRCm39)	N638K	probably benign	Het
Mki67	A	T	7: 135,300,200 (GRCm39)	D1611E	possibly damaging	Het
Mroh2a	G	A	1: 88,171,805 (GRCm39)		probably null	Het
Nek5	A	G	8: 22,603,688 (GRCm39)	V138A	probably damaging	Het
Opcml	A	T	9: 28,813,463 (GRCm39)	E251D	probably benign	Het
Or13c7e-ps1	T	A	4: 43,782,175 (GRCm39)	I52F	probably benign	Het
Or1o1	A	T	17: 37,717,260 (GRCm39)	M274L	probably benign	Het
Pde1b	A	T	15: 103,411,901 (GRCm39)	M1L	probably benign	Het
Pias1	G	A	9: 62,859,266 (GRCm39)	H72Y	probably damaging	Het
Postn	G	A	3: 54,277,679 (GRCm39)	V225I	probably damaging	Het
Prickle2	A	G	6: 92,353,483 (GRCm39)	V661A	probably benign	Het
Ptpn1	T	A	2: 167,816,161 (GRCm39)	F225Y	probably damaging	Het
Ptprd	C	T	4: 75,868,898 (GRCm39)	V1425M	probably damaging	Het
Rbfox1	C	A	16: 7,094,954 (GRCm39)	S111R	probably benign	Het
Rbm24	T	C	13: 46,572,676 (GRCm39)		probably null	Het
Rlf	T	G	4: 121,027,954 (GRCm39)	K224T	probably damaging	Het
Scgb2b3	G	A	7: 31,061,485 (GRCm39)	L5F	probably damaging	Het
Sdr42e2	T	C	7: 120,419,873 (GRCm39)	L206P	probably damaging	Het
Serpinb9g	A	G	13: 33,676,854 (GRCm39)	E212G	probably damaging	Het
Sh3pxd2a	T	C	19: 47,257,146 (GRCm39)	Y524C	probably damaging	Het
Sh3pxd2a	C	A	19: 47,258,277 (GRCm39)	E475D	probably null	Het
Skil	A	G	3: 31,151,603 (GRCm39)	T42A	probably benign	Het
Sorcs2	A	G	5: 36,311,207 (GRCm39)	V203A	probably damaging	Het
Sugp2	C	T	8: 70,695,641 (GRCm39)	R205*	probably null	Het
Tle1	C	A	4: 72,057,203 (GRCm39)		probably benign	Het
Tmem63c	T	A	12: 87,119,660 (GRCm39)	L318Q	probably damaging	Het
Txnrd1	A	G	10: 82,717,759 (GRCm39)	I248V	probably benign	Het
Vmn2r79	T	A	7: 86,686,741 (GRCm39)	C707*	probably null	Het
Xdh	C	T	17: 74,241,837 (GRCm39)	G154D	probably damaging	Het
Xirp2	T	A	2: 67,355,713 (GRCm39)	D3491E	probably benign	Het
Yjefn3	A	G	8: 70,341,869 (GRCm39)	L77P	probably damaging	Het
Zer1	C	T	2: 29,991,862 (GRCm39)	E653K	probably damaging	Het
Zfyve27	T	C	19: 42,167,911 (GRCm39)	V151A	probably benign	Het
Zim1	T	A	7: 6,685,064 (GRCm39)	S129C	probably damaging	Het

Other mutations in Or1j14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00990:Or1j14	APN	2	36,418,005 (GRCm39)	missense	probably benign	0.22
IGL01372:Or1j14	APN	2	36,417,463 (GRCm39)	missense	probably benign	0.00
IGL01747:Or1j14	APN	2	36,417,844 (GRCm39)	missense	probably damaging	1.00
IGL01836:Or1j14	APN	2	36,417,837 (GRCm39)	nonsense	probably null
IGL02409:Or1j14	APN	2	36,418,165 (GRCm39)	missense	probably damaging	1.00
IGL02578:Or1j14	APN	2	36,418,156 (GRCm39)	missense	probably damaging	1.00
IGL03344:Or1j14	APN	2	36,418,140 (GRCm39)	missense	probably damaging	1.00
IGL03396:Or1j14	APN	2	36,417,692 (GRCm39)	missense	probably benign	0.00
R0086:Or1j14	UTSW	2	36,417,462 (GRCm39)	missense	possibly damaging	0.69
R0427:Or1j14	UTSW	2	36,417,994 (GRCm39)	missense	probably damaging	1.00
R0973:Or1j14	UTSW	2	36,418,020 (GRCm39)	missense	probably benign	0.13
R0973:Or1j14	UTSW	2	36,418,020 (GRCm39)	missense	probably benign	0.13
R0974:Or1j14	UTSW	2	36,418,020 (GRCm39)	missense	probably benign	0.13
R2183:Or1j14	UTSW	2	36,417,723 (GRCm39)	nonsense	probably null
R2437:Or1j14	UTSW	2	36,418,258 (GRCm39)	missense	probably damaging	1.00
R4060:Or1j14	UTSW	2	36,417,426 (GRCm39)	start codon destroyed	probably null	0.01
R4982:Or1j14	UTSW	2	36,417,409 (GRCm39)	critical splice acceptor site	probably null
R5070:Or1j14	UTSW	2	36,417,778 (GRCm39)	missense	probably damaging	1.00
R6244:Or1j14	UTSW	2	36,418,353 (GRCm39)	missense	probably benign	0.00
R8690:Or1j14	UTSW	2	36,418,207 (GRCm39)	missense	probably benign	0.22
R9105:Or1j14	UTSW	2	36,418,294 (GRCm39)	missense	probably damaging	1.00
R9224:Or1j14	UTSW	2	36,417,838 (GRCm39)	missense	probably benign	0.00
R9249:Or1j14	UTSW	2	36,417,559 (GRCm39)	missense	probably damaging	1.00
R9274:Or1j14	UTSW	2	36,417,559 (GRCm39)	missense	probably damaging	1.00
R9465:Or1j14	UTSW	2	36,417,898 (GRCm39)	missense	probably benign	0.02
R9644:Or1j14	UTSW	2	36,417,777 (GRCm39)	missense	probably damaging	1.00
R9700:Or1j14	UTSW	2	36,418,313 (GRCm39)	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- CCATGCTGAAACTCTCCAGCTC -3'
(R):5'- CATGCCCATCATTGTGAGCAC -3'

Sequencing Primer
(F):5'- TCAGACACCACCATCAATGAGTTG -3'
(R):5'- ATCATTGTGAGCACAGTCTCC -3'

Posted On

2021-01-18