Mutagenetix > Incidental Mutation

Incidental Mutation 'R8874:Or14j5'

676494

Institutional Source

Beutler Lab

Gene Symbol

Or14j5

Ensembl Gene

ENSMUSG00000109212

Gene Name

olfactory receptor family 14 subfamily J member 5

Synonyms

Olfr126, GA_x6K02T2PSCP-2307164-2308123, MOR218-1

MMRRC Submission

068744-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.198) question?

Stock #

R8874 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38161485-38162444 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 38161675 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Methionine at position 64 (K64M)

Ref Sequence

ENSEMBL: ENSMUSP00000149896 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000174139] [ENSMUST00000213844] [ENSMUST00000217487]

AlphaFold

Q8VGF0

Predicted Effect

probably damaging
Transcript: ENSMUST00000174139
AA Change: K64M

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

SMART Domains

Protein: ENSMUSP00000134080
Gene: ENSMUSG00000109212
AA Change: K64M

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	3.7e-46	PFAM
Pfam:7TM_GPCR_Srx	32	307	3.4e-7	PFAM
Pfam:7TM_GPCR_Srsx	35	305	4.2e-6	PFAM
Pfam:7tm_1	41	290	2.9e-20	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213844
AA Change: K64M

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000217487
AA Change: K64M

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (53/54)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	A	G	5: 8,875,671 (GRCm39)	M615V	possibly damaging	Het
Bud31	T	C	5: 145,079,379 (GRCm39)		probably null	Het
Calhm4	A	G	10: 33,920,264 (GRCm39)	M1T	probably null	Het
Ccdc42	A	G	11: 68,485,396 (GRCm39)	K105E	probably damaging	Het
Cenpq	A	G	17: 41,242,551 (GRCm39)	S93P	probably damaging	Het
Cfh	A	G	1: 140,014,159 (GRCm39)	F1222L	probably damaging	Het
Cpxm2	A	T	7: 131,708,010 (GRCm39)		probably null	Het
Cubn	T	C	2: 13,365,157 (GRCm39)	D1627G	possibly damaging	Het
Diras2	T	C	13: 52,661,737 (GRCm39)	E190G	possibly damaging	Het
Dpyd	G	C	3: 118,792,981 (GRCm39)	A563P	probably damaging	Het
Efcab8	T	A	2: 153,640,569 (GRCm39)	N343K		Het
Gbp2b	A	G	3: 142,314,040 (GRCm39)	E440G	probably benign	Het
Ghrhr	T	C	6: 55,355,891 (GRCm39)	F30L	probably benign	Het
Gm3404	T	A	5: 146,464,953 (GRCm39)	V231E	possibly damaging	Het
Gramd4	A	G	15: 85,985,093 (GRCm39)	H143R	probably damaging	Het
Greb1l	A	T	18: 10,544,896 (GRCm39)	E1408V	probably benign	Het
Hdgfl1	T	G	13: 26,954,007 (GRCm39)	Y22S	probably damaging	Het
Heatr1	T	A	13: 12,445,793 (GRCm39)	V1590D	probably damaging	Het
Hecw2	A	T	1: 53,943,608 (GRCm39)		probably benign	Het
Igkv8-30	C	A	6: 70,094,150 (GRCm39)	R87L	probably damaging	Het
Il18rap	T	A	1: 40,564,506 (GRCm39)	C179S	probably damaging	Het
Itprid2	A	G	2: 79,487,684 (GRCm39)	K589R	probably benign	Het
Jph4	T	C	14: 55,351,534 (GRCm39)	T161A	possibly damaging	Het
Klhdc7a	A	T	4: 139,694,896 (GRCm39)	M17K	probably damaging	Het
Kpnb1	T	C	11: 97,056,209 (GRCm39)	N699S	probably benign	Het
Lama3	T	C	18: 12,582,643 (GRCm39)		probably null	Het
Lca5	A	G	9: 83,277,503 (GRCm39)	F614L	probably damaging	Het
Lyst	T	C	13: 13,812,147 (GRCm39)	V853A	probably benign	Het
Map2	A	T	1: 66,455,523 (GRCm39)	T1406S	probably damaging	Het
Med23	A	G	10: 24,771,617 (GRCm39)	I552V	possibly damaging	Het
Myo1h	A	T	5: 114,472,163 (GRCm39)	I414L		Het
Myom1	A	G	17: 71,413,199 (GRCm39)	K1271E	probably damaging	Het
Or2n1b	T	A	17: 38,459,623 (GRCm39)	V48E	possibly damaging	Het
Or7e177	T	C	9: 20,212,069 (GRCm39)	F192S	possibly damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Prdm2	A	T	4: 142,859,785 (GRCm39)	D1168E	possibly damaging	Het
Prr5	T	C	15: 84,583,916 (GRCm39)	M181T	probably damaging	Het
Ptpdc1	A	G	13: 48,744,168 (GRCm39)	I151T	probably damaging	Het
Ptpn7	T	C	1: 135,067,004 (GRCm39)	V287A	possibly damaging	Het
Ptprz1	T	C	6: 23,042,747 (GRCm39)	V2057A		Het
Rad17	G	T	13: 100,754,327 (GRCm39)	A631E	probably benign	Het
Sf3a2	ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT	ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT	10: 80,640,271 (GRCm39)		probably benign	Het
Slc22a2	A	T	17: 12,828,866 (GRCm39)	D324V	probably benign	Het
Strc	C	T	2: 121,205,353 (GRCm39)		probably null	Het
Taf4b	T	G	18: 14,963,127 (GRCm39)	D622E	probably benign	Het
Tgfbrap1	A	C	1: 43,114,973 (GRCm39)	N42K	probably benign	Het
Uvrag	A	G	7: 98,628,943 (GRCm39)	F375L	probably benign	Het
Vmn2r76	A	G	7: 85,877,999 (GRCm39)	I466T	probably damaging	Het
Vmn2r8	T	C	5: 108,956,617 (GRCm39)	K2E	probably damaging	Het
Vps13d	T	C	4: 144,881,772 (GRCm39)	T1274A		Het
Vwa3b	C	T	1: 37,074,839 (GRCm39)	A2V	possibly damaging	Het
Ylpm1	T	C	12: 85,116,394 (GRCm39)	V2092A	probably damaging	Het
Zfp638	T	C	6: 83,946,135 (GRCm39)	S1055P	probably damaging	Het
Zzef1	A	G	11: 72,754,815 (GRCm39)	T982A	probably benign	Het

Other mutations in Or14j5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01082:Or14j5	APN	17	38,161,514 (GRCm39)	missense	probably benign	0.01
IGL01656:Or14j5	APN	17	38,162,029 (GRCm39)	missense	possibly damaging	0.60
IGL01674:Or14j5	APN	17	37,920,853 (GRCm39)	missense	probably damaging	0.99
IGL01903:Or14j5	APN	17	37,920,758 (GRCm39)	missense	possibly damaging	0.64
IGL02262:Or14j5	APN	17	38,162,154 (GRCm39)	missense	probably damaging	1.00
IGL02445:Or14j5	APN	17	38,162,008 (GRCm39)	missense	probably damaging	0.97
R0559:Or14j5	UTSW	17	38,161,746 (GRCm39)	nonsense	probably null
R1164:Or14j5	UTSW	17	38,161,575 (GRCm39)	missense	probably damaging	0.99
R1828:Or14j5	UTSW	17	38,161,966 (GRCm39)	missense	probably benign	0.11
R1840:Or14j5	UTSW	17	38,161,639 (GRCm39)	missense	probably damaging	1.00
R1882:Or14j5	UTSW	17	38,161,839 (GRCm39)	missense	probably damaging	1.00
R2368:Or14j5	UTSW	17	38,161,509 (GRCm39)	missense	probably benign	0.00
R2377:Or14j5	UTSW	17	38,161,498 (GRCm39)	missense	probably damaging	1.00
R3832:Or14j5	UTSW	17	38,162,071 (GRCm39)	missense	probably benign	0.00
R6589:Or14j5	UTSW	17	38,161,727 (GRCm39)	nonsense	probably null
R7794:Or14j5	UTSW	17	38,161,678 (GRCm39)	missense	probably benign	0.10
R7853:Or14j5	UTSW	17	38,161,714 (GRCm39)	missense	probably damaging	1.00
R8009:Or14j5	UTSW	17	38,161,693 (GRCm39)	missense	probably damaging	1.00
R8501:Or14j5	UTSW	17	38,161,756 (GRCm39)	missense	probably damaging	1.00
R8902:Or14j5	UTSW	17	38,162,101 (GRCm39)	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- CAACAATGAGTGGATTCCTCCTC -3'
(R):5'- CACTTTCTGGGACTCATTATGACC -3'

Sequencing Primer
(F):5'- CATGGGGTTCTCTGACAACCATG -3'
(R):5'- GGGACTCATTATGACCTCATAGTGC -3'

Posted On

2021-07-15