Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02565:Jph2'

298771

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 #

IGL02565

Quality Score

Status

Chromosome

Chromosomal Location

163178162-163239913 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 163239265 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 61 (E61G)

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: E61G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000017961
Gene: ENSMUSG00000017817
AA Change: E61G

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: E61G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000105052
Gene: ENSMUSG00000017817
AA Change: E61G

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921511C20Rik	T	A	X: 126,302,677 (GRCm39)	S205R	probably benign	Het
Adora3	A	G	3: 105,815,128 (GRCm39)	T293A	probably benign	Het
App	T	C	16: 84,822,308 (GRCm39)		probably null	Het
Asap1	A	G	15: 64,001,014 (GRCm39)		probably benign	Het
Brinp3	T	A	1: 146,777,770 (GRCm39)	V739E	probably damaging	Het
Bsn	A	G	9: 107,990,487 (GRCm39)	V1755A	probably damaging	Het
Clmp	A	C	9: 40,683,711 (GRCm39)	D147A	probably damaging	Het
Cntn5	A	T	9: 10,145,343 (GRCm39)	C122*	probably null	Het
Ctsb	T	G	14: 63,375,859 (GRCm39)	C198G	probably null	Het
Cyld	A	T	8: 89,467,919 (GRCm39)	R702S	probably damaging	Het
Cyp4v3	A	G	8: 45,773,674 (GRCm39)	V165A	possibly damaging	Het
Dpy19l4	C	A	4: 11,309,440 (GRCm39)	V59F	probably benign	Het
Eml1	A	T	12: 108,472,779 (GRCm39)	T196S	probably damaging	Het
Fam111a	T	A	19: 12,564,318 (GRCm39)	D22E	probably damaging	Het
Gigyf2	A	G	1: 87,369,858 (GRCm39)	H1150R	probably damaging	Het
Grk5	T	G	19: 61,057,809 (GRCm39)	F170V	probably damaging	Het
Heatr5a	A	C	12: 51,997,882 (GRCm39)	V339G	possibly damaging	Het
Hgd	T	A	16: 37,435,749 (GRCm39)	D153E	possibly damaging	Het
Ift70b	A	G	2: 75,768,247 (GRCm39)	Y169H	probably benign	Het
Igdcc3	T	A	9: 65,087,470 (GRCm39)	L336Q	probably damaging	Het
Ktn1	A	T	14: 47,910,391 (GRCm39)		probably benign	Het
Lrch3	T	A	16: 32,826,084 (GRCm39)	D634E	probably benign	Het
Marchf6	T	C	15: 31,490,712 (GRCm39)		probably benign	Het
Misp	T	A	10: 79,662,177 (GRCm39)	I198N	probably benign	Het
Mmp14	C	T	14: 54,678,014 (GRCm39)	P545L	probably benign	Het
Mon1b	G	T	8: 114,365,455 (GRCm39)	R261L	possibly damaging	Het
Muc5b	T	C	7: 141,411,604 (GRCm39)	S1517P	unknown	Het
Nae1	A	T	8: 105,237,841 (GRCm39)	N518K	probably damaging	Het
Pglyrp4	A	T	3: 90,642,794 (GRCm39)	D225V	probably benign	Het
Pgpep1	A	G	8: 71,105,119 (GRCm39)	I47T	probably damaging	Het
Pip5k1c	C	A	10: 81,153,155 (GRCm39)		probably null	Het
Pitpnc1	G	A	11: 107,187,059 (GRCm39)	T88I	probably damaging	Het
Poldip2	T	C	11: 78,408,678 (GRCm39)	I181T	probably damaging	Het
Ppfia2	T	C	10: 106,699,247 (GRCm39)		probably null	Het
Rasal1	A	G	5: 120,814,845 (GRCm39)		probably benign	Het
Rbms1	A	G	2: 60,590,123 (GRCm39)	Y305H	probably benign	Het
Rnf123	A	C	9: 107,929,411 (GRCm39)		probably null	Het
Sec14l3	G	A	11: 4,026,237 (GRCm39)		probably benign	Het
Slc2a10	A	C	2: 165,357,000 (GRCm39)	D220A	probably damaging	Het
Slc38a8	T	C	8: 120,212,300 (GRCm39)	T348A	probably damaging	Het
Slc4a5	T	C	6: 83,276,487 (GRCm39)	V1104A	probably benign	Het
Snrpe	T	C	1: 133,536,704 (GRCm39)		probably benign	Het
Th	C	A	7: 142,453,647 (GRCm39)	V18F	probably damaging	Het
Ubqln5	G	A	7: 103,778,279 (GRCm39)	Q182*	probably null	Het
Unc5c	T	C	3: 141,509,680 (GRCm39)	V646A	probably damaging	Het
Wasf1	A	G	10: 40,812,128 (GRCm39)	N306D	possibly damaging	Het

Other mutations in Jph2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01395:Jph2	APN	2	163,181,847 (GRCm39)	missense	probably benign	0.07
IGL02314:Jph2	APN	2	163,239,273 (GRCm39)	missense	probably damaging	1.00
IGL02593:Jph2	APN	2	163,239,166 (GRCm39)	missense	probably damaging	1.00
IGL02713:Jph2	APN	2	163,217,837 (GRCm39)	missense	probably damaging	1.00
IGL02742:Jph2	APN	2	163,217,699 (GRCm39)	missense	probably damaging	1.00
R1479:Jph2	UTSW	2	163,181,191 (GRCm39)	missense	possibly damaging	0.62
R2069:Jph2	UTSW	2	163,181,605 (GRCm39)	missense	possibly damaging	0.81
R3848:Jph2	UTSW	2	163,181,332 (GRCm39)	missense	probably benign	0.22
R4961:Jph2	UTSW	2	163,217,668 (GRCm39)	missense	probably damaging	1.00
R6084:Jph2	UTSW	2	163,217,600 (GRCm39)	missense	probably damaging	1.00
R6377:Jph2	UTSW	2	163,181,632 (GRCm39)	missense	probably benign
R6667:Jph2	UTSW	2	163,218,206 (GRCm39)	missense	probably damaging	1.00
R6874:Jph2	UTSW	2	163,181,407 (GRCm39)	missense	probably benign	0.24
R7112:Jph2	UTSW	2	163,217,704 (GRCm39)	missense	probably damaging	1.00
R7874:Jph2	UTSW	2	163,217,762 (GRCm39)	missense	probably damaging	1.00
R8109:Jph2	UTSW	2	163,181,206 (GRCm39)	missense	probably benign	0.00
R8196:Jph2	UTSW	2	163,180,621 (GRCm39)	critical splice acceptor site	probably null
R8802:Jph2	UTSW	2	163,239,184 (GRCm39)	missense	probably damaging	1.00
R9098:Jph2	UTSW	2	163,181,473 (GRCm39)	missense	probably damaging	1.00
R9228:Jph2	UTSW	2	163,180,606 (GRCm39)	missense	probably benign	0.11
R9274:Jph2	UTSW	2	163,239,547 (GRCm39)	start gained	probably benign
Z1088:Jph2	UTSW	2	163,239,252 (GRCm39)	missense	possibly damaging	0.94
Z1177:Jph2	UTSW	2	163,218,297 (GRCm39)	critical splice acceptor site	probably null

Posted On

2015-04-16