Mutagenetix > Incidental Mutation

Incidental Mutation 'R9401:Jph3'

711227

Institutional Source

Beutler Lab

Gene Symbol

Jph3

Ensembl Gene

ENSMUSG00000025318

Gene Name

junctophilin 3

Synonyms

JP-3

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9401 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

122457298-122517822 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 122511854 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 614 (E614G)

Ref Sequence

ENSEMBL: ENSMUSP00000026357 (fasta)

Gene Model

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

AlphaFold

Q9ET77

Predicted Effect

probably damaging
Transcript: ENSMUST00000026357
AA Change: E614G

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

SMART Domains

Protein: ENSMUSP00000026357
Gene: ENSMUSG00000025318
AA Change: E614G

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: E614G

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

SMART Domains

Protein: ENSMUSP00000126190
Gene: ENSMUSG00000025318
AA Change: E614G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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. 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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	A	G	8: 111,780,785 (GRCm39)	D850G	probably benign	Het
Abcc9	T	A	6: 142,543,836 (GRCm39)	T1480S	possibly damaging	Het
Adgrb3	C	A	1: 25,592,783 (GRCm39)	V335F	probably damaging	Het
Agfg1	C	A	1: 82,859,958 (GRCm39)	A275D	probably benign	Het
Alms1	T	A	6: 85,655,001 (GRCm39)	C2713*	probably null	Het
Atp8a1	G	A	5: 67,906,492 (GRCm39)	A474V		Het
Baz1a	C	A	12: 54,963,339 (GRCm39)	S918I	probably damaging	Het
Bcl2l12	G	T	7: 44,643,674 (GRCm39)	T120K	possibly damaging	Het
Bcl6	G	T	16: 23,791,107 (GRCm39)	Q416K	possibly damaging	Het
Cdhr1	T	A	14: 36,820,055 (GRCm39)	I16F	probably benign	Het
Celsr1	G	T	15: 85,917,286 (GRCm39)	S229*	probably null	Het
Cilp	T	C	9: 65,185,381 (GRCm39)	V492A	probably damaging	Het
Crim1	CCGC	CC	17: 78,658,294 (GRCm39)		probably null	Het
Crppa	T	C	12: 36,552,073 (GRCm39)	V309A	probably benign	Het
Ctcfl	T	G	2: 172,947,881 (GRCm39)	T479P	probably damaging	Het
Dlx6	A	C	6: 6,863,581 (GRCm39)	M68L	probably benign	Het
Dnah7a	C	A	1: 53,568,026 (GRCm39)	V1857F	probably benign	Het
Dpy19l4	A	G	4: 11,265,806 (GRCm39)	V714A	probably benign	Het
Elovl7	T	A	13: 108,419,188 (GRCm39)	N273K	probably benign	Het
Fbxo22	A	G	9: 55,130,628 (GRCm39)	K299R	probably benign	Het
Fig4	A	G	10: 41,143,733 (GRCm39)	V242A	probably benign	Het
Fmo9	A	T	1: 166,505,189 (GRCm39)	M68K	probably damaging	Het
Fry	T	A	5: 150,302,403 (GRCm39)	Y537N	probably damaging	Het
Fryl	C	T	5: 73,222,563 (GRCm39)	W2006*	probably null	Het
Fzd8	T	A	18: 9,213,205 (GRCm39)	C96S	possibly damaging	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,450 (GRCm39)		probably benign	Het
Gspt1	T	C	16: 11,050,535 (GRCm39)	D272G	possibly damaging	Het
Gzmf	A	T	14: 56,448,813 (GRCm39)	M1K	probably null	Het
Hipk1	T	C	3: 103,685,295 (GRCm39)	T107A	probably benign	Het
Hsd3b9	T	G	3: 98,363,819 (GRCm39)	T9P	probably damaging	Het
Ighe	C	T	12: 113,233,107 (GRCm39)	C438Y		Het
Igkv4-50	T	A	6: 69,677,967 (GRCm39)	R46W		Het
Igsf3	T	A	3: 101,333,075 (GRCm39)	Y118N	probably damaging	Het
Itsn1	T	A	16: 91,612,408 (GRCm39)	Y266N	probably damaging	Het
Klk1b8	T	A	7: 43,603,674 (GRCm39)	D170E	probably benign	Het
Ly6e	A	T	15: 74,830,153 (GRCm39)	K36*	probably null	Het
Map3k6	C	A	4: 132,968,467 (GRCm39)	A23E	probably damaging	Het
Med13l	T	A	5: 118,883,089 (GRCm39)	M1316K	probably benign	Het
Or5c1	T	C	2: 37,222,293 (GRCm39)	V178A	possibly damaging	Het
Or6c76b	A	G	10: 129,693,298 (GRCm39)	R304G	probably benign	Het
Or8u3-ps	A	T	2: 85,952,368 (GRCm39)	I34F	possibly damaging	Het
Pih1d2	T	A	9: 50,529,905 (GRCm39)	C45S	probably damaging	Het
Pik3r2	G	A	8: 71,223,737 (GRCm39)	S318L	possibly damaging	Het
Pknox1	T	C	17: 31,802,752 (GRCm39)	I9T	probably benign	Het
Pknox2	T	C	9: 36,835,041 (GRCm39)	I143V	probably damaging	Het
Polr1d	A	G	5: 147,015,488 (GRCm39)	Y57C	probably damaging	Het
Pum3	A	T	19: 27,376,336 (GRCm39)	D527E	probably benign	Het
Rars2	T	A	4: 34,654,819 (GRCm39)	H374Q	probably damaging	Het
Rassf9	G	A	10: 102,348,369 (GRCm39)		probably benign	Het
Rbl1	T	A	2: 157,016,742 (GRCm39)	H619L	possibly damaging	Het
Scamp4	T	C	10: 80,448,238 (GRCm39)	V153A	probably benign	Het
Sec23b	T	G	2: 144,420,286 (GRCm39)	I450S	probably benign	Het
Slc35b2	A	G	17: 45,877,910 (GRCm39)	I297V	probably benign	Het
Slc4a4	C	T	5: 89,327,525 (GRCm39)	T654I	probably damaging	Het
Slc6a5	T	A	7: 49,601,185 (GRCm39)	M662K	probably damaging	Het
Smarcad1	T	C	6: 65,071,321 (GRCm39)	Y589H	probably benign	Het
Spata31d1e	T	C	13: 59,890,012 (GRCm39)	T603A	probably benign	Het
Stab1	A	T	14: 30,883,069 (GRCm39)	F374I	probably benign	Het
Stat5a	C	T	11: 100,756,254 (GRCm39)	T158M	possibly damaging	Het
Trpc3	A	T	3: 36,675,503 (GRCm39)	Y878*	probably null	Het
Ubr1	T	A	2: 120,765,765 (GRCm39)	T491S	probably benign	Het
Uggt1	C	T	1: 36,255,212 (GRCm39)		probably null	Het
Ugt1a6a	T	A	1: 88,066,882 (GRCm39)	Y229*	probably null	Het
Vmn1r225	G	A	17: 20,722,911 (GRCm39)	W117*	probably null	Het
Vmn1r225	A	C	17: 20,722,912 (GRCm39)	K118Q	probably damaging	Het
Vmn1r43	G	A	6: 89,846,877 (GRCm39)	T203M	probably damaging	Het
Vmn2r116	T	C	17: 23,620,566 (GRCm39)	S767P	probably damaging	Het
Wdr90	AGAC	AGACGAC	17: 26,064,750 (GRCm39)		probably benign	Het
Ythdf3	C	T	3: 16,258,659 (GRCm39)	P280S	probably damaging	Het
Zbbx	A	G	3: 75,019,390 (GRCm39)	S107P	probably benign	Het
Zdhhc7	A	T	8: 120,813,425 (GRCm39)	V128E	probably benign	Het
Zfp235	A	G	7: 23,841,551 (GRCm39)	S657G	probably damaging	Het
Zfp442	T	A	2: 150,251,615 (GRCm39)	I96F	possibly damaging	Het
Zfp84	G	A	7: 29,476,297 (GRCm39)	E330K	probably 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
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
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'- ACATCCAGATGCTCCTCGAG -3'
(R):5'- AGTTTCTGCACCGTGGGTTC -3'

Sequencing Primer
(F):5'- TATGCCCGCAACAGCTG -3'
(R):5'- ACCGTGGGTTCTGCAGAG -3'

Posted On

2022-05-16