Mutagenetix > Incidental Mutation

Incidental Mutation 'R2437:Or1j14'

249623

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

040398-MU

Accession Numbers

Essential gene?

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

Stock #

R2437 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36415010-36420802 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 36418258 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 278 (Y278F)

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: Y278F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000073818
Gene: ENSMUSG00000111869
AA Change: Y278F

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

noncoding transcript
Transcript: ENSMUST00000213794

Predicted Effect

probably damaging
Transcript: ENSMUST00000216275
AA Change: Y278F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.1491

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.0%

Validation Efficiency

100% (75/75)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	A	G	4: 148,031,075 (GRCm39)	*635W	probably null	Het
Anxa2	A	G	9: 69,397,046 (GRCm39)	Y317C	probably damaging	Het
Arhgef26	T	C	3: 62,340,002 (GRCm39)	S675P	probably damaging	Het
Bltp1	T	A	3: 37,012,834 (GRCm39)		probably null	Het
Camk2d	A	G	3: 126,628,277 (GRCm39)	N53S	probably damaging	Het
Carns1	A	T	19: 4,215,782 (GRCm39)	M800K	possibly damaging	Het
Ces1f	A	T	8: 93,996,767 (GRCm39)		probably null	Het
Chrne	T	A	11: 70,506,086 (GRCm39)	D426V	possibly damaging	Het
Cntfr	T	C	4: 41,671,035 (GRCm39)	T43A	probably damaging	Het
Cntn5	A	T	9: 10,048,758 (GRCm39)	C63*	probably null	Het
Col12a1	G	A	9: 79,599,501 (GRCm39)	T884I	probably damaging	Het
Dnah5	T	C	15: 28,307,537 (GRCm39)		probably null	Het
Dnajc2	A	T	5: 21,965,389 (GRCm39)	S537R	probably benign	Het
Dnajc25	T	C	4: 59,020,234 (GRCm39)	I100T	probably damaging	Het
Ephx1	C	A	1: 180,823,661 (GRCm39)	G149C	probably damaging	Het
Fam163b	G	T	2: 27,002,698 (GRCm39)	P100T	probably damaging	Het
Fbxl9	A	G	8: 106,039,675 (GRCm39)		probably null	Het
Fgd5	A	T	6: 92,039,850 (GRCm39)	R1017*	probably null	Het
Fibin	A	T	2: 110,192,848 (GRCm39)	L98Q	probably damaging	Het
Fndc3b	A	T	3: 27,505,481 (GRCm39)	L929H	probably damaging	Het
Frem1	T	A	4: 82,918,410 (GRCm39)	S512C	probably damaging	Het
Gm4922	T	A	10: 18,659,829 (GRCm39)	M298L	probably benign	Het
Gstm2	G	A	3: 107,891,369 (GRCm39)		probably benign	Het
Gtf3c2	A	G	5: 31,317,042 (GRCm39)		probably null	Het
Ibtk	A	C	9: 85,590,178 (GRCm39)	L1026V	probably benign	Het
Il9	T	A	13: 56,629,684 (GRCm39)		probably benign	Het
Inpp4a	T	C	1: 37,432,037 (GRCm39)	S146P	probably damaging	Het
Kcnab1	G	T	3: 65,264,435 (GRCm39)		probably benign	Het
Mgat4c	T	C	10: 102,224,436 (GRCm39)	S217P	probably damaging	Het
Mr1	T	C	1: 155,008,277 (GRCm39)	M233V	probably benign	Het
Ncoa2	G	A	1: 13,218,584 (GRCm39)	T1415I	probably damaging	Het
Oasl2	G	A	5: 115,049,357 (GRCm39)	D486N	probably benign	Het
Or9a7	G	A	6: 40,521,856 (GRCm39)	T19I	probably benign	Het
Or9s27	T	C	1: 92,516,688 (GRCm39)	I212T	possibly damaging	Het
Pcnx4	T	C	12: 72,588,587 (GRCm39)	F132L	probably damaging	Het
Pde5a	T	A	3: 122,636,702 (GRCm39)	L717Q	probably damaging	Het
Peli2	A	T	14: 48,465,389 (GRCm39)		probably benign	Het
Phf14	A	G	6: 11,962,657 (GRCm39)	S435G	probably damaging	Het
Plekhg1	T	A	10: 3,913,564 (GRCm39)	H1095Q	probably damaging	Het
Plekhh2	A	G	17: 84,893,907 (GRCm39)		probably null	Het
Plekho1	T	G	3: 95,899,497 (GRCm39)	N99H	probably damaging	Het
Plxnc1	T	A	10: 94,742,395 (GRCm39)	K457N	probably benign	Het
Ppp1r3a	T	C	6: 14,718,322 (GRCm39)	E864G	probably benign	Het
Prkab2	T	A	3: 97,574,715 (GRCm39)	L237Q	probably damaging	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Ptger3	T	A	3: 157,273,207 (GRCm39)	C185S	probably damaging	Het
Ptprk	T	C	10: 28,230,709 (GRCm39)	Y267H	probably damaging	Het
Pum2	A	G	12: 8,794,654 (GRCm39)	I715V	probably benign	Het
R3hdm1	T	C	1: 128,114,573 (GRCm39)	V518A	probably damaging	Het
Rab3d	T	C	9: 21,827,147 (GRCm39)	I28V	probably damaging	Het
Rad54b	T	C	4: 11,606,272 (GRCm39)	L560P	probably damaging	Het
Rgs20	A	G	1: 5,140,370 (GRCm39)		probably null	Het
Sesn1	T	A	10: 41,781,315 (GRCm39)	L460H	probably damaging	Het
Slc39a14	A	G	14: 70,553,885 (GRCm39)		probably null	Het
Slco6c1	T	A	1: 96,990,201 (GRCm39)	H663L	probably benign	Het
Snx13	T	A	12: 35,132,926 (GRCm39)	C63S	probably benign	Het
Spmip4	T	A	6: 50,560,959 (GRCm39)	D212V	probably damaging	Het
Strip2	T	C	6: 29,941,940 (GRCm39)		probably null	Het
Syncrip	A	G	9: 88,361,620 (GRCm39)		probably benign	Het
Taf15	A	G	11: 83,395,579 (GRCm39)		probably benign	Het
Tbc1d8	T	C	1: 39,444,368 (GRCm39)		probably null	Het
Tgm4	T	A	9: 122,877,614 (GRCm39)	C205*	probably null	Het
Tmem212	A	T	3: 27,940,628 (GRCm39)	L63Q	possibly damaging	Het
Tmem63a	G	A	1: 180,790,054 (GRCm39)		probably null	Het
Trpm5	C	A	7: 142,636,298 (GRCm39)	V525L	probably benign	Het
Ttn	A	G	2: 76,537,171 (GRCm39)	L34919P	probably damaging	Het
Ttn	T	C	2: 76,694,619 (GRCm39)		probably benign	Het
Tuba4a	T	C	1: 75,194,069 (GRCm39)	I4V	possibly damaging	Het
Ubr4	A	G	4: 139,200,853 (GRCm39)	D4679G	possibly damaging	Het
Usp2	T	G	9: 44,003,445 (GRCm39)	V448G	probably damaging	Het
Usp3	A	G	9: 66,453,024 (GRCm39)		probably null	Het
Zfp341	T	A	2: 154,470,721 (GRCm39)	V246E	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
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
R8350:Or1j14	UTSW	2	36,418,176 (GRCm39)	missense	probably damaging	1.00
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'- CCACCATTCATATGCATTCTGG -3'
(R):5'- CCATGTGGAGATTCCCTGACAG -3'

Sequencing Primer
(F):5'- TATGTCCGTATAGGTGTCACAATTC -3'
(R):5'- TGTGGAGATTCCCTGACAGAGAAC -3'

Posted On

2014-11-12