Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02742:Jph2'

305939

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 #

IGL02742

Quality Score

Status

Chromosome

Chromosomal Location

163336242-163397993 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 163375779 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 326 (P326S)

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: P326S

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

SMART Domains

Protein: ENSMUSP00000017961
Gene: ENSMUSG00000017817
AA Change: P326S

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: P326S

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

SMART Domains

Protein: ENSMUSP00000105052
Gene: ENSMUSG00000017817
AA Change: P326S

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad11	A	G	9: 104,095,625	T506A	probably damaging	Het
AI314180	A	G	4: 58,840,757	V667A	probably damaging	Het
Ankib1	A	C	5: 3,693,479	D845E	probably benign	Het
Atxn2	T	C	5: 121,781,336	V369A	possibly damaging	Het
Ccdc50	T	A	16: 27,406,784		probably benign	Het
Clec2g	A	G	6: 128,980,261	I61V	possibly damaging	Het
Col16a1	G	A	4: 130,061,379		probably benign	Het
Dapk2	A	G	9: 66,231,814	Y139C	probably damaging	Het
Fnip1	T	C	11: 54,493,351	L334P	probably damaging	Het
Igf1r	A	G	7: 68,189,991	E682G	possibly damaging	Het
Ints8	T	C	4: 11,241,627	E272G	possibly damaging	Het
Krtap1-4	T	C	11: 99,583,114		probably benign	Het
Lrp5	A	G	19: 3,604,022	I1135T	probably damaging	Het
Lrrk1	A	G	7: 66,308,691	V320A	probably benign	Het
Myh6	A	C	14: 54,953,924	I820S	possibly damaging	Het
Napg	A	T	18: 62,986,248	T110S	probably damaging	Het
Nova1	G	A	12: 46,720,692	Q56*	probably null	Het
Phyhip	A	G	14: 70,461,927		probably null	Het
Pkd2l2	C	A	18: 34,416,917	S205*	probably null	Het
Ppp2r1a	G	T	17: 20,959,003	C101F	probably benign	Het
Serpinb3c	G	A	1: 107,273,142	R182*	probably null	Het
St18	A	C	1: 6,802,316		probably benign	Het
St6galnac4	C	T	2: 32,597,084	R264C	possibly damaging	Het
Tmem168	T	C	6: 13,603,262	Y35C	probably benign	Het
Tmem219	A	G	7: 126,897,048	L74P	probably damaging	Het
Trpc4	T	A	3: 54,299,246	N622K	probably damaging	Het
Trpm6	A	C	19: 18,830,012		probably benign	Het
Ttl	C	A	2: 129,066,293	F49L	possibly damaging	Het
Vmn1r123	A	T	7: 21,163,043	I287F	possibly damaging	Het
Vmn2r97	T	G	17: 18,929,170	I273M	probably damaging	Het
Wdr5	C	A	2: 27,520,425		probably benign	Het
Zcchc6	C	T	13: 59,816,342	D250N	probably damaging	Het
Zfp37	C	A	4: 62,192,311	C172F	possibly 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
IGL02713:Jph2	APN	2	163375917	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