Mutagenetix > Incidental Mutation

Incidental Mutation 'R9224:Or1j14'

699636

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

Accession Numbers

Essential gene?

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

Stock #

R9224 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

36415010-36420802 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 36417838 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 138 (Q138L)

Ref Sequence

ENSEMBL: ENSMUSP00000149751 (fasta)

Gene Model

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

AlphaFold

Q8VGK7

Predicted Effect

probably benign
Transcript: ENSMUST00000074192
AA Change: Q138L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000073818
Gene: ENSMUSG00000111869
AA Change: Q138L

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 benign
Transcript: ENSMUST00000216275
AA Change: Q138L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 112 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	C	T	19: 3,767,100 (GRCm39)	S229L	possibly damaging	Het
Actc1	TGA	T	2: 113,879,710 (GRCm39)		probably null	Het
Actl9	G	A	17: 33,653,004 (GRCm39)	A355T	probably benign	Het
Adamts8	A	G	9: 30,854,188 (GRCm39)	Q19R	probably benign	Het
Akr1c14	A	T	13: 4,130,695 (GRCm39)	Y216F	possibly damaging	Het
Alms1	T	C	6: 85,598,770 (GRCm39)	C1199R	possibly damaging	Het
Apc2	T	C	10: 80,150,111 (GRCm39)	S1722P	probably damaging	Het
Arid1a	T	C	4: 133,409,167 (GRCm39)	E1395G	unknown	Het
Atp6v0e2	T	C	6: 48,516,190 (GRCm39)	V46A	possibly damaging	Het
Bcar3	A	G	3: 122,319,091 (GRCm39)	R743G	probably damaging	Het
Bhmt2	A	G	13: 93,805,854 (GRCm39)	V56A	probably damaging	Het
Bsn	C	A	9: 107,982,686 (GRCm39)	R917L		Het
Cabyr	T	G	18: 12,887,278 (GRCm39)	V303G	possibly damaging	Het
Carmil1	A	T	13: 24,292,512 (GRCm39)	I429N	probably damaging	Het
Ccdc27	T	C	4: 154,122,174 (GRCm39)	N235D	unknown	Het
Ccdc61	T	C	7: 18,637,746 (GRCm39)	M37V	probably benign	Het
Cd40	A	T	2: 164,898,716 (GRCm39)	I48F	unknown	Het
Cdk13	A	T	13: 17,941,071 (GRCm39)	S664R	probably damaging	Het
Cel	TTA	TTATA	2: 28,449,441 (GRCm39)		probably null	Het
Cfap46	T	A	7: 139,258,416 (GRCm39)	R286*	probably null	Het
Ckap2	A	C	8: 22,659,954 (GRCm39)	I509S	possibly damaging	Het
Clptm1l	A	T	13: 73,752,344 (GRCm39)		probably benign	Het
Col11a1	T	G	3: 114,001,929 (GRCm39)	M1591R	unknown	Het
Col6a5	C	A	9: 105,814,594 (GRCm39)	A473S	unknown	Het
Cxcr2	T	A	1: 74,197,756 (GRCm39)	D83E	probably damaging	Het
Cyp2c39	G	A	19: 39,527,332 (GRCm39)	C226Y	probably benign	Het
Ddr1	A	C	17: 36,000,609 (GRCm39)	F352C	probably damaging	Het
Defb22	T	A	2: 152,327,721 (GRCm39)	T155S	unknown	Het
Dennd4c	G	T	4: 86,738,170 (GRCm39)	E935*	probably null	Het
Dst	A	C	1: 34,330,879 (GRCm39)	E4889D	probably damaging	Het
Efcab3	A	G	11: 104,661,801 (GRCm39)	Q1314R	probably benign	Het
Emilin1	T	A	5: 31,074,823 (GRCm39)	C355S	probably damaging	Het
Enpp3	C	T	10: 24,650,716 (GRCm39)	V807I	probably benign	Het
Fcnb	T	A	2: 27,969,160 (GRCm39)	D179V	probably damaging	Het
Ficd	T	A	5: 113,875,196 (GRCm39)	D88E	probably benign	Het
Fndc3b	T	C	3: 27,524,450 (GRCm39)	K437E	possibly damaging	Het
Fyb2	T	A	4: 104,853,105 (GRCm39)	W566R	probably benign	Het
Gm14403	A	G	2: 177,200,336 (GRCm39)	Q94R	probably benign	Het
Gm32687	T	A	10: 81,714,866 (GRCm39)	I86N	probably benign	Het
Gpam	T	G	19: 55,075,907 (GRCm39)	D235A	probably damaging	Het
Gstt4	T	C	10: 75,651,046 (GRCm39)	E192G	probably damaging	Het
H2-Q6	T	G	17: 35,644,309 (GRCm39)	V97G	probably benign	Het
Hcn1	G	A	13: 118,062,254 (GRCm39)	G507S	unknown	Het
Hydin	T	C	8: 111,259,516 (GRCm39)	I2496T	probably benign	Het
Jund	A	G	8: 71,151,864 (GRCm39)	D53G	probably damaging	Het
Kat6b	T	A	14: 21,720,031 (GRCm39)	M1461K	probably benign	Het
Lnx1	T	G	5: 74,766,810 (GRCm39)	K435Q	probably benign	Het
Lpcat1	C	A	13: 73,658,161 (GRCm39)	L316M	probably damaging	Het
Lrrtm3	ATTTT	ATTTTT	10: 63,925,035 (GRCm39)		probably null	Het
Ly6c1	T	A	15: 74,916,465 (GRCm39)	T126S	probably benign	Het
Macf1	A	G	4: 123,326,690 (GRCm39)	S4938P	probably damaging	Het
Map2k2	T	C	10: 80,954,008 (GRCm39)	V158A	possibly damaging	Het
Map3k4	A	G	17: 12,456,973 (GRCm39)	V1323A	probably damaging	Het
Map4k5	A	T	12: 69,939,467 (GRCm39)	V23E	possibly damaging	Het
Med30	T	G	15: 52,582,839 (GRCm39)	L92R	probably damaging	Het
Mroh8	C	T	2: 157,063,069 (GRCm39)	G851S	possibly damaging	Het
Msmb	T	A	14: 31,880,060 (GRCm39)	C83*	probably null	Het
Mtif2	A	T	11: 29,494,364 (GRCm39)	R655S	probably benign	Het
Myo10	C	T	15: 25,808,081 (GRCm39)	S1901L	probably benign	Het
Myom2	A	T	8: 15,178,804 (GRCm39)	I1279F	possibly damaging	Het
Nat9	T	C	11: 115,075,441 (GRCm39)	I67V	probably damaging	Het
Ncam1	A	G	9: 49,419,995 (GRCm39)	S774P	probably damaging	Het
Ndufaf6	T	C	4: 11,062,089 (GRCm39)	T181A	probably damaging	Het
Nlrp4f	T	A	13: 65,332,829 (GRCm39)	K110*	probably null	Het
Nlrp9b	T	C	7: 19,753,217 (GRCm39)	S41P	probably benign	Het
Nlrp9b	A	G	7: 19,757,476 (GRCm39)	T238A	probably benign	Het
Noxo1	A	T	17: 24,919,305 (GRCm39)	E342D	probably benign	Het
Nt5dc2	T	C	14: 30,857,665 (GRCm39)	M55T	probably benign	Het
Or2ag18	T	C	7: 106,405,489 (GRCm39)	Y60C	probably damaging	Het
Or2f1	T	C	6: 42,721,904 (GRCm39)	F311S	probably benign	Het
Or2h2c	T	C	17: 37,422,767 (GRCm39)	T36A	possibly damaging	Het
Or5al6	T	A	2: 85,976,220 (GRCm39)	N286I	probably damaging	Het
Or6c210	C	A	10: 129,496,007 (GRCm39)	L111M	probably damaging	Het
Or6c6	T	A	10: 129,186,450 (GRCm39)	M6K	probably benign	Het
Or9s18	C	T	13: 65,300,203 (GRCm39)	T55I	probably damaging	Het
P4ha2	C	T	11: 54,009,963 (GRCm39)	P240L	possibly damaging	Het
Pcdha11	T	A	18: 37,139,073 (GRCm39)	L234Q	probably damaging	Het
Pgm3	C	T	9: 86,438,415 (GRCm39)	A457T	probably benign	Het
Pira12	T	C	7: 3,900,234 (GRCm39)	T123A	probably benign	Het
Pkp4	T	C	2: 59,144,738 (GRCm39)	V533A	probably benign	Het
Plac8l1	T	C	18: 42,325,702 (GRCm39)	T68A	possibly damaging	Het
Pou2f3	A	T	9: 43,050,694 (GRCm39)	I222N	probably damaging	Het
Ppp1r14d	T	C	2: 119,060,222 (GRCm39)	D20G	probably benign	Het
Ppp1r37	C	A	7: 19,265,729 (GRCm39)	G679V	probably damaging	Het
Ppp6r2	T	A	15: 89,146,599 (GRCm39)	I199N	probably damaging	Het
Prune2	A	G	19: 17,097,393 (GRCm39)	T966A	probably damaging	Het
Ptdss2	T	C	7: 140,734,798 (GRCm39)	V375A	probably benign	Het
Rara	TGCCCCGC	TGCCCCGCCCCGC	11: 98,857,236 (GRCm39)		probably null	Het
Rin2	T	A	2: 145,720,822 (GRCm39)	C718*	probably null	Het
Rptor	C	T	11: 119,785,113 (GRCm39)	T1170I	probably benign	Het
Samd5	T	C	10: 9,550,259 (GRCm39)	Y150C	probably damaging	Het
Setd1b	T	C	5: 123,296,773 (GRCm39)	S1245P	unknown	Het
Sipa1l2	T	C	8: 126,218,716 (GRCm39)	E207G	probably damaging	Het
Slc29a1	C	A	17: 45,897,153 (GRCm39)	V378L	probably damaging	Het
Slc2a12	T	G	10: 22,541,261 (GRCm39)	I372S	possibly damaging	Het
Slc7a10	T	A	7: 34,894,639 (GRCm39)	Y99*	probably null	Het
Smco3	A	G	6: 136,808,517 (GRCm39)	V119A	probably damaging	Het
Sptlc3	C	T	2: 139,336,154 (GRCm39)	T10I	probably benign	Het
Sri	T	A	5: 8,113,323 (GRCm39)	W105R	probably damaging	Het
Stk35	T	C	2: 129,652,491 (GRCm39)	Y331H	probably damaging	Het
Tipin	T	C	9: 64,195,430 (GRCm39)	I12T	probably benign	Het
Tlr5	A	G	1: 182,802,693 (GRCm39)	T666A	probably benign	Het
Tmprss11g	C	A	5: 86,640,003 (GRCm39)	V222L	probably benign	Het
Tnfrsf11b	T	A	15: 54,115,556 (GRCm39)	Y347F	possibly damaging	Het
Traf6	A	G	2: 101,527,512 (GRCm39)	T421A	probably benign	Het
Trrap	T	A	5: 144,708,049 (GRCm39)	D30E	possibly damaging	Het
Ube2k	T	A	5: 65,751,847 (GRCm39)	Y162N	probably damaging	Het
Uck2	A	T	1: 167,065,171 (GRCm39)	V49E	probably damaging	Het
Vcam1	A	T	3: 115,904,592 (GRCm39)	Y718*	probably null	Het
Zan	T	C	5: 137,472,269 (GRCm39)	N159S	probably damaging	Het
Zfp438	A	G	18: 5,210,788 (GRCm39)	L750P	probably damaging	Het
Zfp54	A	T	17: 21,654,037 (GRCm39)	Y177F	probably benign	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
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
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'- CAGCCCCAAAGATGCTCATG -3'
(R):5'- CCAGAATGCATATGAATGGTGG -3'

Sequencing Primer
(F):5'- GCTCATGAATATGCTGACACATAGC -3'
(R):5'- ATAAGCAACTCATTGATGGTGGTGTC -3'

Posted On

2022-02-07