Mutagenetix > Incidental Mutation

Incidental Mutation 'R5126:Jph3'

393555

Institutional Source

Beutler Lab

Gene Symbol

Jph3

Ensembl Gene

ENSMUSG00000025318

Gene Name

junctophilin 3

Synonyms

JP-3

MMRRC Submission

042714-MU

Accession Numbers

Essential gene?

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

Stock #

R5126 (G1)

Quality Score

151

Status

Not validated

Chromosome

Chromosomal Location

122457298-122517822 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 122479787 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 155 (V155A)

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: V155A

PolyPhen 2 Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000026357
Gene: ENSMUSG00000025318
AA Change: V155A

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: V155A

PolyPhen 2 Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000126190
Gene: ENSMUSG00000025318
AA Change: V155A

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: 98.9%
3x: 98.0%
10x: 95.1%
20x: 88.0%

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts13	G	A	2: 26,886,927 (GRCm39)		probably null	Het
Ahdc1	T	A	4: 132,790,833 (GRCm39)	F691L	probably benign	Het
Ahsa2	T	A	11: 23,441,036 (GRCm39)	I202F	possibly damaging	Het
Akap10	C	T	11: 61,807,015 (GRCm39)	A72T	probably damaging	Het
Ccnb1	C	G	13: 100,918,283 (GRCm39)	Q121H	possibly damaging	Het
Cep164	A	G	9: 45,698,722 (GRCm39)		probably null	Het
Cltc	A	G	11: 86,603,495 (GRCm39)	V781A	probably damaging	Het
Dchs1	A	G	7: 105,402,724 (GRCm39)	S3273P	probably damaging	Het
Dnajc16	C	A	4: 141,501,820 (GRCm39)	V337L	probably benign	Het
Fstl4	T	C	11: 53,077,388 (GRCm39)	V715A	possibly damaging	Het
Grik1	C	T	16: 87,744,747 (GRCm39)	G502S	probably damaging	Het
Ifi213	A	G	1: 173,417,581 (GRCm39)	V277A	possibly damaging	Het
Ints15	G	T	5: 143,293,701 (GRCm39)	P259T	probably benign	Het
Katnal2	T	C	18: 77,105,294 (GRCm39)	E51G	probably benign	Het
Kcna2	T	A	3: 107,011,550 (GRCm39)	F44I	probably damaging	Het
Kcna6	T	C	6: 126,715,695 (GRCm39)	E398G	probably damaging	Het
Kif15	A	T	9: 122,804,823 (GRCm39)	H190L	probably damaging	Het
Lmbrd2	A	G	15: 9,194,788 (GRCm39)	R597G	possibly damaging	Het
Lrtm2	T	A	6: 119,294,400 (GRCm39)	M244L	probably benign	Het
Ly6c2	A	C	15: 74,983,492 (GRCm39)	S9A	possibly damaging	Het
Mbd4	T	A	6: 115,825,929 (GRCm39)		probably null	Het
Mfsd2b	A	G	12: 4,916,183 (GRCm39)	I269T	probably benign	Het
Muc6	A	T	7: 141,237,564 (GRCm39)	C218S	probably damaging	Het
Nlrc5	G	T	8: 95,201,299 (GRCm39)	R131L	possibly damaging	Het
Nlrp1b	A	T	11: 71,072,359 (GRCm39)	C495S	possibly damaging	Het
Nsf	C	A	11: 103,773,618 (GRCm39)	E299*	probably null	Het
Obscn	T	A	11: 58,967,889 (GRCm39)	E336D	probably damaging	Het
Or14j9	G	T	17: 37,874,719 (GRCm39)	T161K	probably benign	Het
Pan3	A	G	5: 147,464,008 (GRCm39)	N587S	probably benign	Het
Pgap6	T	C	17: 26,340,614 (GRCm39)	I666T	probably damaging	Het
Plch2	T	C	4: 155,084,976 (GRCm39)	D321G	probably damaging	Het
Plscr4	G	A	9: 92,370,794 (GRCm39)	D254N	probably damaging	Het
Pnma8a	A	C	7: 16,695,242 (GRCm39)	M366L	probably benign	Het
Pnpla7	G	T	2: 24,870,056 (GRCm39)	C12F	possibly damaging	Het
Ptprk	G	T	10: 28,451,640 (GRCm39)		probably null	Het
Rgs22	A	G	15: 36,040,790 (GRCm39)	V899A	probably damaging	Het
Ruvbl1	T	A	6: 88,462,883 (GRCm39)	C336S	probably benign	Het
Slc27a5	T	A	7: 12,725,247 (GRCm39)	H400L	probably damaging	Het
Slc66a1	T	C	4: 139,029,843 (GRCm39)	T63A	probably benign	Het
Slco1a4	A	T	6: 141,761,308 (GRCm39)	V435D	possibly damaging	Het
Snx14	A	T	9: 88,264,152 (GRCm39)	Y818N	probably damaging	Het
Tln2	A	G	9: 67,165,817 (GRCm39)	I2098T	probably damaging	Het
Tlr11	T	C	14: 50,598,287 (GRCm39)	L91P	probably damaging	Het
Tmem208	T	A	8: 106,061,282 (GRCm39)	F103I	probably benign	Het
Vmn2r3	C	T	3: 64,166,740 (GRCm39)	C797Y	probably damaging	Het
Vwde	T	A	6: 13,187,259 (GRCm39)	M743L	probably benign	Het
Wdcp	C	A	12: 4,900,617 (GRCm39)	R158S	probably damaging	Het
Zfp773	T	C	7: 7,139,623 (GRCm39)	T9A	unknown	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
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'- CTTTCAAAGAGAGGTTCTGAGAGG -3'
(R):5'- GCTCTTGGACTCAGACTTGC -3'

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

Posted On

2016-06-15