Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02713:Jph2'

304639

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Jph2

Ensembl Gene

ENSMUSG00000017817

Gene Name

junctophilin 2

Synonyms

1110002E14Rik, JP-2

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02713

Quality Score

Status

Chromosome

Chromosomal Location

163336242-163397993 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 163375917 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 280 (T280A)

Ref Sequence

ENSEMBL: ENSMUSP00000105052 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017961] [ENSMUST00000109425]

AlphaFold

Q9ET78

Predicted Effect

probably damaging
Transcript: ENSMUST00000017961
AA Change: T280A

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

SMART Domains

Protein: ENSMUSP00000017961
Gene: ENSMUSG00000017817
AA Change: T280A

Domain	Start	End	E-Value	Type
MORN	12	33	7.12e0	SMART
MORN	58	79	3.01e0	SMART
Pfam:MORN	82	103	1.2e-2	PFAM
MORN	104	125	4.99e-5	SMART
MORN	127	148	3.67e-3	SMART
low complexity region	153	168	N/A	INTRINSIC
low complexity region	198	208	N/A	INTRINSIC
low complexity region	212	234	N/A	INTRINSIC
low complexity region	246	279	N/A	INTRINSIC
MORN	283	304	3.61e-2	SMART
MORN	306	327	6.23e-6	SMART
low complexity region	367	382	N/A	INTRINSIC
low complexity region	388	402	N/A	INTRINSIC
low complexity region	432	448	N/A	INTRINSIC
low complexity region	473	487	N/A	INTRINSIC
low complexity region	568	587	N/A	INTRINSIC
low complexity region	588	612	N/A	INTRINSIC
low complexity region	656	671	N/A	INTRINSIC
transmembrane domain	673	695	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000109425
AA Change: T280A

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

SMART Domains

Protein: ENSMUSP00000105052
Gene: ENSMUSG00000017817
AA Change: T280A

Domain	Start	End	E-Value	Type
MORN	12	33	7.12e0	SMART
MORN	58	79	3.01e0	SMART
MORN	104	125	4.99e-5	SMART
MORN	127	148	3.67e-3	SMART
low complexity region	153	168	N/A	INTRINSIC
low complexity region	198	208	N/A	INTRINSIC
low complexity region	212	234	N/A	INTRINSIC
low complexity region	246	279	N/A	INTRINSIC
MORN	283	304	3.61e-2	SMART
MORN	306	327	6.23e-6	SMART
low complexity region	367	382	N/A	INTRINSIC
low complexity region	388	402	N/A	INTRINSIC
low complexity region	432	448	N/A	INTRINSIC
low complexity region	473	487	N/A	INTRINSIC
low complexity region	568	587	N/A	INTRINSIC
low complexity region	588	612	N/A	INTRINSIC
low complexity region	656	671	N/A	INTRINSIC
transmembrane domain	673	695	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of all excitable cell types and mediate cross talk between cell surface and intracellular ion channels. The protein encoded by this gene is a component of junctional complexes and is composed of a C-terminal hydrophobic segment spanning the endoplasmic/sarcoplasmic reticulum membrane and a remaining cytoplasmic domain that shows specific affinity for the plasma membrane. This gene is a member of the junctophilin gene family. Alternative splicing has been observed at this locus and two variants encoding distinct isoforms are described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit a deficiency of junctional membrane complexes in cardiac myocytes and die by embryonic day 10.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010300C02Rik	C	A	1: 37,624,137	K893N	possibly damaging	Het
Acan	A	G	7: 79,100,244	T1588A	possibly damaging	Het
Apeh	A	T	9: 108,085,672	L700Q	probably damaging	Het
Arid1b	T	C	17: 5,343,011	I2272T	probably damaging	Het
Best3	T	G	10: 117,024,529	F565V	probably benign	Het
Birc6	A	G	17: 74,579,324	N521S	probably benign	Het
Cd209f	T	A	8: 4,103,732	R191S	probably benign	Het
Clec4e	A	T	6: 123,286,304	Y63*	probably null	Het
Cyp26c1	C	T	19: 37,693,219	T490M	probably damaging	Het
Cyp2b9	T	A	7: 26,173,520	H29Q	probably benign	Het
Cyp2d10	A	C	15: 82,406,082		probably benign	Het
Dgat1	C	A	15: 76,503,534	R291L	probably damaging	Het
Dyrk1a	C	A	16: 94,685,345		probably benign	Het
Esp4	T	C	17: 40,602,406	F55L	probably benign	Het
Fam227a	G	A	15: 79,636,796		probably benign	Het
Ggt1	T	C	10: 75,574,344	Y37H	probably damaging	Het
Grsf1	A	T	5: 88,672,730	I64K	probably damaging	Het
Itga6	C	T	2: 71,816,713	T89I	possibly damaging	Het
Lipm	A	G	19: 34,101,170	M1V	probably null	Het
Nbeal1	C	T	1: 60,235,237	A513V	possibly damaging	Het
Olfr1491	A	T	19: 13,705,189	I121F	possibly damaging	Het
Olfr514	A	T	7: 108,825,594	M135K	probably damaging	Het
Olfr518	G	A	7: 108,880,853	T251I	probably damaging	Het
Olfr61	A	T	7: 140,637,916	I72F	probably damaging	Het
Olfr888	C	T	9: 38,109,327	P214S	probably damaging	Het
Olfr995	T	A	2: 85,438,637	I174F	probably damaging	Het
Orc6	A	G	8: 85,307,586	E146G	probably benign	Het
Patl2	A	G	2: 122,125,847	S179P	probably benign	Het
Pdzd8	C	A	19: 59,345,458	G44C	probably damaging	Het
Phox2b	A	G	5: 67,096,595		probably benign	Het
Ppp4r3b	T	G	11: 29,188,445	H264Q	probably damaging	Het
Ptprk	T	C	10: 28,592,811	I1409T	possibly damaging	Het
Pum1	T	A	4: 130,766,012	I842N	probably damaging	Het
Rnf123	G	A	9: 108,068,302	R390*	probably null	Het
Sgca	T	A	11: 94,971,305	N174Y	probably damaging	Het
Slc7a14	A	T	3: 31,257,763	L36Q	probably damaging	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Stard13	G	A	5: 151,042,186	Q935*	probably null	Het
Suds3	C	T	5: 117,094,905		probably null	Het
Sv2b	A	T	7: 75,124,163	L520Q	possibly damaging	Het
Tmem26	T	C	10: 68,751,295	F191S	probably damaging	Het

Other mutations in Jph2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01395:Jph2	APN	2	163339927	missense	probably benign	0.07
IGL02314:Jph2	APN	2	163397353	missense	probably damaging	1.00
IGL02565:Jph2	APN	2	163397345	missense	probably damaging	1.00
IGL02593:Jph2	APN	2	163397246	missense	probably damaging	1.00
IGL02742:Jph2	APN	2	163375779	missense	probably damaging	1.00
R1479:Jph2	UTSW	2	163339271	missense	possibly damaging	0.62
R2069:Jph2	UTSW	2	163339685	missense	possibly damaging	0.81
R3848:Jph2	UTSW	2	163339412	missense	probably benign	0.22
R4961:Jph2	UTSW	2	163375748	missense	probably damaging	1.00
R6084:Jph2	UTSW	2	163375680	missense	probably damaging	1.00
R6377:Jph2	UTSW	2	163339712	missense	probably benign
R6667:Jph2	UTSW	2	163376286	missense	probably damaging	1.00
R6874:Jph2	UTSW	2	163339487	missense	probably benign	0.24
R7112:Jph2	UTSW	2	163375784	missense	probably damaging	1.00
R7874:Jph2	UTSW	2	163375842	missense	probably damaging	1.00
R8109:Jph2	UTSW	2	163339286	missense	probably benign	0.00
R8196:Jph2	UTSW	2	163338701	critical splice acceptor site	probably null
R8802:Jph2	UTSW	2	163397264	missense	probably damaging	1.00
R9098:Jph2	UTSW	2	163339553	missense	probably damaging	1.00
R9228:Jph2	UTSW	2	163338686	missense	probably benign	0.11
R9274:Jph2	UTSW	2	163397627	start gained	probably benign
Z1088:Jph2	UTSW	2	163397332	missense	possibly damaging	0.94
Z1177:Jph2	UTSW	2	163376377	critical splice acceptor site	probably null

Posted On

2015-04-16