Mutagenetix > Incidental Mutation

Incidental Mutation 'R0142:Jph3'

22385

Institutional Source

Beutler Lab

Gene Symbol

Jph3

Ensembl Gene

ENSMUSG00000025318

Gene Name

junctophilin 3

Synonyms

JP-3

MMRRC Submission

038427-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.227) question?

Stock #

R0142 (G1)

Quality Score

162

Status

Validated (trace)

Chromosome

Chromosomal Location

122457298-122517822 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 122480110 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 263 (T263A)

Ref Sequence

ENSEMBL: ENSMUSP00000126190 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026357] [ENSMUST00000127664] [ENSMUST00000167439]

AlphaFold

Q9ET77

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026357
AA Change: T263A

PolyPhen 2 Score 0.844 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000026357
Gene: ENSMUSG00000025318
AA Change: T263A

Domain	Start	End	E-Value	Type
MORN	13	34	8.01e-1	SMART
MORN	37	57	6.13e1	SMART
MORN	59	80	2.99e-1	SMART
Pfam:MORN	83	104	5.9e-2	PFAM
MORN	105	126	8.1e-5	SMART
MORN	128	149	2.74e-2	SMART
low complexity region	181	192	N/A	INTRINSIC
low complexity region	212	244	N/A	INTRINSIC
MORN	286	307	2.78e-3	SMART
MORN	309	330	1.03e-6	SMART
low complexity region	360	381	N/A	INTRINSIC
low complexity region	393	409	N/A	INTRINSIC
low complexity region	481	494	N/A	INTRINSIC
transmembrane domain	721	743	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000127664

SMART Domains

Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

Domain	Start	End	E-Value	Type
Pfam:Glycos_transf_2	104	287	7.4e-31	PFAM
Pfam:Glyco_transf_7C	261	331	4.9e-8	PFAM
RICIN	406	531	9.28e-27	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000167439
AA Change: T263A

PolyPhen 2 Score 0.844 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000126190
Gene: ENSMUSG00000025318
AA Change: T263A

Domain	Start	End	E-Value	Type
MORN	13	34	8.01e-1	SMART
MORN	37	57	6.13e1	SMART
MORN	59	80	2.99e-1	SMART
Pfam:MORN	83	104	5.8e-2	PFAM
MORN	105	126	8.1e-5	SMART
MORN	128	149	2.74e-2	SMART
low complexity region	181	192	N/A	INTRINSIC
low complexity region	212	244	N/A	INTRINSIC
MORN	286	307	2.78e-3	SMART
MORN	309	330	1.03e-6	SMART
low complexity region	360	381	N/A	INTRINSIC
low complexity region	393	409	N/A	INTRINSIC
low complexity region	481	494	N/A	INTRINSIC
transmembrane domain	721	743	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169735

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172209

Meta Mutation Damage Score

0.0874

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.0%
20x: 87.6%

Validation Efficiency

92% (61/66)

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. CAG/CTG repeat expansion from normally 6-28 repeats to 40-59 repeats in the 3' UTR of this gene have been associated with Huntington disease-like 2 (HDL2). This gene is a member of the junctophilin gene family. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit impaired balance and motor coordination. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	G	11: 110,079,467 (GRCm39)	D1229A	probably damaging	Het
Abhd8	A	C	8: 71,914,506 (GRCm39)	F41V	probably damaging	Het
Ago4	T	G	4: 126,410,725 (GRCm39)	E222A	probably benign	Het
Ap3b2	T	C	7: 81,122,828 (GRCm39)	I470V	probably damaging	Het
Bcl9l	C	T	9: 44,418,409 (GRCm39)	T749M	probably benign	Het
Bicc1	T	C	10: 70,761,200 (GRCm39)	K937E	probably damaging	Het
Bmi1	G	A	2: 18,688,095 (GRCm39)		probably null	Het
Boc	A	C	16: 44,310,604 (GRCm39)	I772S	probably damaging	Het
Brd10	A	G	19: 29,695,654 (GRCm39)	S1347P	possibly damaging	Het
C2	T	A	17: 35,092,504 (GRCm39)	I178F	possibly damaging	Het
Cacna1c	G	T	6: 118,580,843 (GRCm39)	A1416E	probably damaging	Het
Chst10	A	G	1: 38,910,810 (GRCm39)	L118P	probably damaging	Het
Crybg1	G	A	10: 43,875,059 (GRCm39)	T683I	possibly damaging	Het
Cul5	C	T	9: 53,546,350 (GRCm39)	V314I	probably damaging	Het
Dnajc17	C	A	2: 119,010,415 (GRCm39)	R211I	probably benign	Het
Emilin1	A	G	5: 31,071,264 (GRCm39)	T16A	probably benign	Het
Ercc6l2	A	C	13: 64,020,320 (GRCm39)		probably benign	Het
Fsd2	T	A	7: 81,209,683 (GRCm39)	D53V	probably damaging	Het
Galnt13	A	G	2: 54,988,615 (GRCm39)	D479G	probably damaging	Het
Grk3	A	T	5: 113,062,919 (GRCm39)	W643R	probably damaging	Het
Hdgf	G	A	3: 87,820,416 (GRCm39)	A4T	possibly damaging	Het
Hnrnpr	T	A	4: 136,054,593 (GRCm39)	V182E	probably damaging	Het
Ipo13	A	C	4: 117,762,766 (GRCm39)	L279R	probably damaging	Het
Itga9	C	A	9: 118,465,654 (GRCm39)	N169K	probably damaging	Het
Jph4	G	T	14: 55,345,783 (GRCm39)	Q625K	probably benign	Het
Kctd3	A	C	1: 188,728,595 (GRCm39)		probably null	Het
Kif26b	A	T	1: 178,742,954 (GRCm39)	S570C	probably damaging	Het
Klhl5	G	A	5: 65,300,693 (GRCm39)	W164*	probably null	Het
Lacc1	A	T	14: 77,268,239 (GRCm39)	H357Q	probably benign	Het
Lama2	A	G	10: 27,063,841 (GRCm39)	I1316T	probably benign	Het
Lcp2	C	T	11: 34,032,418 (GRCm39)	P332L	probably damaging	Het
Map3k6	A	T	4: 132,978,257 (GRCm39)	H1033L	probably benign	Het
Mfsd2b	A	G	12: 4,916,234 (GRCm39)	V252A	probably benign	Het
Myo16	T	A	8: 10,619,790 (GRCm39)	I1447N	probably benign	Het
Myo19	G	A	11: 84,785,429 (GRCm39)	R224H	probably damaging	Het
Myo5a	C	T	9: 75,067,856 (GRCm39)	H637Y	probably benign	Het
Nek10	C	T	14: 14,861,560 (GRCm38)	R539C	possibly damaging	Het
Nfix	A	T	8: 85,448,315 (GRCm39)	V404E	probably damaging	Het
Nr1i2	T	C	16: 38,073,368 (GRCm39)	R203G	probably benign	Het
Nup210l	G	A	3: 90,079,420 (GRCm39)	G968D	probably damaging	Het
Or10q1	A	T	19: 13,726,619 (GRCm39)	I50F	probably benign	Het
Or2ag15	G	T	7: 106,340,972 (GRCm39)	H56Q	probably benign	Het
Or8b37	A	T	9: 37,959,406 (GRCm39)	H296L	probably benign	Het
Phlpp2	C	T	8: 110,634,145 (GRCm39)	R242W	probably damaging	Het
Plcz1	A	G	6: 139,953,423 (GRCm39)	F398S	probably damaging	Het
Ppfibp2	C	A	7: 107,343,384 (GRCm39)	P808T	probably damaging	Het
Srpk2	T	C	5: 23,732,928 (GRCm39)	K239E	probably damaging	Het
Svep1	A	G	4: 58,118,232 (GRCm39)	V830A	probably benign	Het
Tesc	A	T	5: 118,194,635 (GRCm39)	I149F	possibly damaging	Het
Thsd7a	A	G	6: 12,418,334 (GRCm39)	W632R	probably damaging	Het
Tmprss9	A	G	10: 80,730,212 (GRCm39)	D704G	possibly damaging	Het
Tob1	T	C	11: 94,105,423 (GRCm39)	Y320H	probably damaging	Het
Trpm3	G	T	19: 22,965,280 (GRCm39)	D1582Y	probably damaging	Het
Ttc28	A	G	5: 111,425,323 (GRCm39)	K1716R	probably benign	Het
Uqcrfs1	A	G	13: 30,724,925 (GRCm39)	V205A	probably benign	Het
Usp29	G	A	7: 6,965,334 (GRCm39)	M392I	probably benign	Het
Uspl1	A	T	5: 149,125,159 (GRCm39)	Y22F	possibly damaging	Het
Virma	C	A	4: 11,548,783 (GRCm39)	N1780K	probably benign	Het
Vmn1r56	C	T	7: 5,199,372 (GRCm39)	A82T	probably benign	Het
Vmn2r5	A	T	3: 64,400,009 (GRCm39)	C553S	probably damaging	Het
Vwce	A	T	19: 10,641,976 (GRCm39)	R901W	probably damaging	Het
Wdpcp	C	A	11: 21,807,444 (GRCm39)		probably null	Het
Zfp423	A	T	8: 88,506,968 (GRCm39)	C1000*	probably null	Het
Zscan20	A	G	4: 128,479,630 (GRCm39)	F954L	probably benign	Het

Other mutations in Jph3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02976:Jph3	APN	8	122,479,823 (GRCm39)	missense	probably damaging	1.00
R0200:Jph3	UTSW	8	122,511,572 (GRCm39)	missense	probably benign	0.36
R0238:Jph3	UTSW	8	122,480,459 (GRCm39)	missense	possibly damaging	0.83
R0238:Jph3	UTSW	8	122,480,459 (GRCm39)	missense	possibly damaging	0.83
R1550:Jph3	UTSW	8	122,511,598 (GRCm39)	missense	possibly damaging	0.74
R2127:Jph3	UTSW	8	122,511,881 (GRCm39)	missense	probably benign	0.09
R2160:Jph3	UTSW	8	122,479,970 (GRCm39)	missense	possibly damaging	0.50
R3901:Jph3	UTSW	8	122,480,158 (GRCm39)	missense	possibly damaging	0.64
R3902:Jph3	UTSW	8	122,480,158 (GRCm39)	missense	possibly damaging	0.64
R5126:Jph3	UTSW	8	122,479,787 (GRCm39)	missense	possibly damaging	0.70
R6073:Jph3	UTSW	8	122,480,291 (GRCm39)	missense	probably damaging	1.00
R6130:Jph3	UTSW	8	122,479,826 (GRCm39)	missense	probably damaging	0.98
R6794:Jph3	UTSW	8	122,512,124 (GRCm39)	missense	probably benign	0.10
R6923:Jph3	UTSW	8	122,480,110 (GRCm39)	missense	possibly damaging	0.84
R7337:Jph3	UTSW	8	122,480,441 (GRCm39)	missense	probably benign	0.03
R7897:Jph3	UTSW	8	122,516,136 (GRCm39)	critical splice acceptor site	probably null
R8041:Jph3	UTSW	8	122,516,201 (GRCm39)	missense	probably benign	0.38
R8901:Jph3	UTSW	8	122,457,561 (GRCm39)	missense	probably damaging	0.96
R9110:Jph3	UTSW	8	122,516,201 (GRCm39)	missense	probably benign	0.04
R9401:Jph3	UTSW	8	122,511,854 (GRCm39)	missense	probably damaging	0.98
R9689:Jph3	UTSW	8	122,480,377 (GRCm39)	missense	probably benign	0.23
R9705:Jph3	UTSW	8	122,508,913 (GRCm39)	missense	probably damaging	1.00
R9781:Jph3	UTSW	8	122,457,380 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTATGGCATGGCCGCAGTCATC -3'
(R):5'- AGCGATCTCGGCTTTCTGCTTG -3'

Sequencing Primer
(F):5'- CAGTGACTCGGAGATCCTCAAG -3'
(R):5'- TCGGGGAAAGTCATGCACC -3'

Posted On

2013-04-16