Mutagenetix > Incidental Mutation

Incidental Mutation 'R6130:Jph3'

487093

Institutional Source

Beutler Lab

Gene Symbol

Jph3

Ensembl Gene

ENSMUSG00000025318

Gene Name

junctophilin 3

Synonyms

JP-3

MMRRC Submission

044277-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.236) question?

Stock #

R6130 (G1)

Quality Score

154.008

Status

Validated

Chromosome

Chromosomal Location

122457298-122517822 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 122479826 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 168 (R168H)

Ref Sequence

ENSEMBL: ENSMUSP00000126190 (fasta)

Gene Model

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

AlphaFold

Q9ET77

Predicted Effect

probably damaging
Transcript: ENSMUST00000026357
AA Change: R168H

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000026357
Gene: ENSMUSG00000025318
AA Change: R168H

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

probably damaging
Transcript: ENSMUST00000167439
AA Change: R168H

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000126190
Gene: ENSMUSG00000025318
AA Change: R168H

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.1%

Validation Efficiency

96% (46/48)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930553M12Rik	T	C	4: 88,786,596 (GRCm39)	I7M	unknown	Het
Abi3	T	A	11: 95,727,921 (GRCm39)	E90V	probably damaging	Het
Adgrv1	A	C	13: 81,575,864 (GRCm39)	V4834G	probably damaging	Het
Aen	A	T	7: 78,552,387 (GRCm39)		probably null	Het
Ankrd55	A	G	13: 112,454,980 (GRCm39)	D26G	probably damaging	Het
Antxr2	T	C	5: 98,152,131 (GRCm39)	E160G	possibly damaging	Het
Auts2	T	C	5: 131,469,061 (GRCm39)	H528R	probably damaging	Het
Casd1	A	G	6: 4,641,948 (GRCm39)	T742A	probably damaging	Het
Ccdc39	T	C	3: 33,895,341 (GRCm39)		probably null	Het
Ctla4	T	C	1: 60,951,650 (GRCm39)	Y60H	probably damaging	Het
Dennd4b	T	C	3: 90,183,566 (GRCm39)	L935P	probably damaging	Het
Dnah6	T	A	6: 73,165,477 (GRCm39)	T543S	probably benign	Het
Dnai3	A	C	3: 145,748,559 (GRCm39)	Y852D	probably benign	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Fbxo6	A	T	4: 148,233,979 (GRCm39)	I39N	probably damaging	Het
Fdxacb1	C	T	9: 50,683,902 (GRCm39)	R420*	probably null	Het
Flg	A	G	3: 93,200,023 (GRCm39)		probably benign	Het
Fpr1	T	A	17: 18,097,897 (GRCm39)	I31F	probably benign	Het
Gm10549	C	A	18: 33,597,358 (GRCm39)		probably benign	Het
Gsta1	T	A	9: 78,149,847 (GRCm39)	F220Y	probably damaging	Het
Hmg20a	T	A	9: 56,395,891 (GRCm39)		probably null	Het
Igf2bp1	A	C	11: 95,864,846 (GRCm39)	L201R	probably damaging	Het
Kif1a	T	A	1: 92,964,623 (GRCm39)	I1318F	probably damaging	Het
Lamc2	T	C	1: 153,012,523 (GRCm39)	N717S	probably benign	Het
Lepr	A	T	4: 101,622,569 (GRCm39)	S450C	probably damaging	Het
Muc16	A	G	9: 18,501,994 (GRCm39)	V6535A	probably damaging	Het
Myom3	A	G	4: 135,489,882 (GRCm39)	T18A	probably benign	Het
Nlrp5	A	G	7: 23,103,598 (GRCm39)	K22E	probably benign	Het
Obscn	A	C	11: 58,968,771 (GRCm39)	S2534A	possibly damaging	Het
Or1j21	A	T	2: 36,684,055 (GRCm39)	D269V	probably benign	Het
Or2ak5	A	G	11: 58,611,133 (GRCm39)	V247A	probably damaging	Het
Pcdhga8	T	A	18: 37,860,580 (GRCm39)	N545K	possibly damaging	Het
Pcsk5	A	T	19: 17,488,920 (GRCm39)	Y967N	probably damaging	Het
Robo2	C	T	16: 73,717,570 (GRCm39)	G100S	probably benign	Het
Rsf1	G	A	7: 97,229,117 (GRCm39)		probably benign	Het
Saxo4	G	A	19: 10,455,128 (GRCm39)	P233L	probably benign	Het
Scap	A	G	9: 110,209,447 (GRCm39)	T707A	possibly damaging	Het
Scarf1	A	G	11: 75,416,565 (GRCm39)	Q669R	probably benign	Het
Scin	T	C	12: 40,119,435 (GRCm39)	D531G	probably benign	Het
Sh2b3	T	C	5: 121,953,626 (GRCm39)		probably null	Het
Slco1a6	T	C	6: 142,032,155 (GRCm39)	S657G	probably benign	Het
Stil	T	A	4: 114,887,058 (GRCm39)		probably null	Het
Syna	T	A	5: 134,587,122 (GRCm39)	Q609L	possibly damaging	Het
Tmem59l	A	G	8: 70,937,255 (GRCm39)	S271P	probably damaging	Het
Tns2	A	G	15: 102,019,676 (GRCm39)	E522G	probably damaging	Het
Trappc6a	G	A	7: 19,249,219 (GRCm39)	A149T	probably benign	Het
Trim21	A	T	7: 102,212,498 (GRCm39)	L156H	possibly damaging	Het
Trpv3	A	G	11: 73,187,309 (GRCm39)	R714G	possibly damaging	Het
Zfp87	T	A	13: 74,520,460 (GRCm39)	Q206L	possibly damaging	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
R0142:Jph3	UTSW	8	122,480,110 (GRCm39)	missense	possibly damaging	0.84
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
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'- ACTTTCAAAGAGAGGTTCTGAGAGG -3'
(R):5'- TTGGACTCAGACTTGCGTAG -3'

Sequencing Primer
(F):5'- GGTATCTTCCACACACCCG -3'
(R):5'- TAGCTTCAGGCCGCTCAG -3'

Posted On

2017-10-10