Mutagenetix > Incidental Mutation

Incidental Mutation 'R4961:Jph2'

381743

Institutional Source

Beutler Lab

Gene Symbol

Jph2

Ensembl Gene

ENSMUSG00000017817

Gene Name

junctophilin 2

Synonyms

1110002E14Rik, JP-2

MMRRC Submission

042558-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4961 (G1)

Quality Score

189

Status

Validated

Chromosome

Chromosomal Location

163178162-163239913 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 163217668 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Proline at position 336 (R336P)

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: R336P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000017961
Gene: ENSMUSG00000017817
AA Change: R336P

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: R336P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000105052
Gene: ENSMUSG00000017817
AA Change: R336P

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

Meta Mutation Damage Score

0.2702

Coding Region Coverage

1x: 98.9%
3x: 98.1%
10x: 95.3%
20x: 88.3%

Validation Efficiency

95% (62/65)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110082I17Rik	T	C	5: 139,349,855 (GRCm39)	K65E	probably damaging	Het
Acp5	C	A	9: 22,041,233 (GRCm39)	A65S	probably benign	Het
Adad2	G	A	8: 120,342,397 (GRCm39)	R345H	probably damaging	Het
Adamts7	G	T	9: 90,067,793 (GRCm39)	G428W	probably damaging	Het
Amy1	A	G	3: 113,355,498 (GRCm39)	S326P	probably damaging	Het
Ankrd44	C	T	1: 54,703,071 (GRCm39)	D482N	probably damaging	Het
Anks6	C	T	4: 47,030,795 (GRCm39)	G601S	probably damaging	Het
Ano8	G	C	8: 71,935,640 (GRCm39)	P326R	probably damaging	Het
Arhgef26	A	G	3: 62,367,046 (GRCm39)	E793G	probably damaging	Het
Cd9	A	T	6: 125,440,703 (GRCm39)	V96E	probably damaging	Het
Cdh9	A	G	15: 16,850,914 (GRCm39)	N561S	probably benign	Het
Col16a1	G	A	4: 129,948,272 (GRCm39)		probably null	Het
Cpne7	G	A	8: 123,860,498 (GRCm39)	G484R	probably damaging	Het
Dcun1d4	A	T	5: 73,701,463 (GRCm39)	K194*	probably null	Het
Dock3	A	G	9: 106,818,515 (GRCm39)	V1193A	probably damaging	Het
Dst	A	G	1: 34,007,904 (GRCm39)	R113G	possibly damaging	Het
Epha5	A	T	5: 84,381,502 (GRCm39)	S450T	probably damaging	Het
Gm5581	A	T	6: 131,144,190 (GRCm39)		noncoding transcript	Het
Grhl3	A	G	4: 135,279,918 (GRCm39)	Y379H	probably damaging	Het
Herpud1	T	C	8: 95,117,454 (GRCm39)	S13P	probably benign	Het
Jam2	C	T	16: 84,606,435 (GRCm39)	Q150*	probably null	Het
Kansl3	T	A	1: 36,387,764 (GRCm39)		probably null	Het
Kctd1	G	A	18: 15,195,580 (GRCm39)	P348S	probably damaging	Het
Klhl30	T	A	1: 91,285,106 (GRCm39)	S321T	possibly damaging	Het
Klhl5	T	C	5: 65,310,033 (GRCm39)		probably benign	Het
Letm2	T	C	8: 26,084,108 (GRCm39)	H41R	possibly damaging	Het
Ltn1	A	T	16: 87,194,679 (GRCm39)	C1407S	probably benign	Het
Map1b	T	C	13: 99,572,161 (GRCm39)	T187A	probably damaging	Het
Marveld2	T	C	13: 100,748,431 (GRCm39)	N216S	probably benign	Het
Matn1	A	G	4: 130,680,234 (GRCm39)	Y437C	probably damaging	Het
Oas1h	T	C	5: 121,009,159 (GRCm39)	Y290H	probably damaging	Het
Ofcc1	A	G	13: 40,417,035 (GRCm39)		probably null	Het
Or2m12	C	A	16: 19,104,726 (GRCm39)	G256W	probably damaging	Het
Or4k51	A	T	2: 111,584,750 (GRCm39)	D52V	probably damaging	Het
Or8g34	A	G	9: 39,373,183 (GRCm39)	Y152C	probably damaging	Het
Otof	C	A	5: 30,540,837 (GRCm39)		probably benign	Het
Pcdh15	G	T	10: 74,215,249 (GRCm39)		probably null	Het
Pgk2	G	A	17: 40,518,412 (GRCm39)	P339S	probably damaging	Het
Piezo2	T	C	18: 63,186,032 (GRCm39)		probably null	Het
Prex2	A	G	1: 11,168,705 (GRCm39)	T234A	possibly damaging	Het
Rasgrf1	C	T	9: 89,826,922 (GRCm39)	T177M	probably benign	Het
Rgs1	A	T	1: 144,124,309 (GRCm39)		probably null	Het
Snx25	T	C	8: 46,521,229 (GRCm39)	N239S	probably damaging	Het
Spata31d1a	T	A	13: 59,849,716 (GRCm39)	H804L	possibly damaging	Het
Spon2	A	T	5: 33,371,896 (GRCm39)	Y303*	probably null	Het
Spopfm2	A	T	3: 94,082,841 (GRCm39)	C323*	probably null	Het
Thrb	G	A	14: 18,011,076 (GRCm38)	D151N	probably benign	Het
Tns1	A	G	1: 73,975,074 (GRCm39)	V1170A	probably benign	Het
Trbv19	A	T	6: 41,155,706 (GRCm39)	I26F	probably damaging	Het
Tstd2	T	C	4: 46,120,467 (GRCm39)	N311S	probably damaging	Het
Ttn	T	A	2: 76,715,746 (GRCm39)		probably benign	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,139,706 (GRCm39)		probably benign	Het
Vmn1r185	G	A	7: 26,310,716 (GRCm39)	A263V	probably benign	Het
Zfp316	T	C	5: 143,239,169 (GRCm39)	H950R	probably damaging	Het
Zfp51	A	G	17: 21,676,615 (GRCm39)	K29E	probably benign	Het
Zfp644	T	C	5: 106,766,081 (GRCm39)		probably benign	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
IGL02565:Jph2	APN	2	163,239,265 (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
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

Predicted Primers

PCR Primer
(F):5'- AACTAGATGCATGGGTGACTC -3'
(R):5'- ACCACGGAAACCTACATGGG -3'

Sequencing Primer
(F):5'- GACTCTCACTGTAGAGAAATGTCCG -3'
(R):5'- ACCTACATGGGCGAGTGG -3'

Posted On

2016-04-27