Mutagenetix > Incidental Mutation

Incidental Mutation 'R8041:Jph3'

618530

Institutional Source

Beutler Lab

Gene Symbol

Jph3

Ensembl Gene

ENSMUSG00000025318

Gene Name

junctophilin 3

Synonyms

JP-3

MMRRC Submission

067478-MU

Accession Numbers

Essential gene?

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

Stock #

R8041 (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 C at 122516201 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 740 (I740L)

Ref Sequence

ENSEMBL: ENSMUSP00000026357 (fasta)

Gene Model

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

AlphaFold

Q9ET77

Predicted Effect

probably benign
Transcript: ENSMUST00000026357
AA Change: I740L

PolyPhen 2 Score 0.377 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000026357
Gene: ENSMUSG00000025318
AA Change: I740L

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 benign
Transcript: ENSMUST00000167439
AA Change: I740L

PolyPhen 2 Score 0.377 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000126190
Gene: ENSMUSG00000025318
AA Change: I740L

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: 100.0%
10x: 99.8%
20x: 99.4%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afap1l1	A	T	18: 61,891,754 (GRCm39)	L21Q	probably damaging	Het
Ago1	G	A	4: 126,335,729 (GRCm39)	R661C	probably damaging	Het
Albfm1	T	A	5: 90,740,864 (GRCm39)		probably null	Het
Aoc3	T	C	11: 101,223,132 (GRCm39)	V456A	probably benign	Het
Aopep	G	C	13: 63,180,921 (GRCm39)	W294C	probably damaging	Het
Cacna1b	A	T	2: 24,547,311 (GRCm39)	F1223L	probably damaging	Het
Ccdc40	T	C	11: 119,122,507 (GRCm39)	F33S	possibly damaging	Het
Ccnjl	T	C	11: 43,470,538 (GRCm39)	V102A	probably damaging	Het
Cd48	T	C	1: 171,526,958 (GRCm39)	V128A	probably damaging	Het
Cmah	A	G	13: 24,652,601 (GRCm39)	D577G	probably benign	Het
Cnnm4	A	G	1: 36,511,174 (GRCm39)	K134R	probably benign	Het
Cntnap5a	T	A	1: 116,187,209 (GRCm39)	Y594N	probably damaging	Het
Col14a1	A	G	15: 55,318,626 (GRCm39)	E1375G	unknown	Het
Comtd1	T	A	14: 21,897,985 (GRCm39)	E153V	probably benign	Het
Dchs1	T	A	7: 105,404,395 (GRCm39)	T2716S	probably benign	Het
Ddx4	A	T	13: 112,762,928 (GRCm39)	S143T	probably benign	Het
Dlg1	A	G	16: 31,656,885 (GRCm39)	D593G	possibly damaging	Het
Dok6	A	G	18: 89,578,213 (GRCm39)	I68T	possibly damaging	Het
Dpysl5	A	G	5: 30,953,658 (GRCm39)	I563V	probably benign	Het
Eapp	A	G	12: 54,739,650 (GRCm39)	S56P	probably damaging	Het
Efcab3	T	G	11: 104,810,305 (GRCm39)	D3147E	unknown	Het
Fgd5	A	T	6: 92,038,837 (GRCm39)	D1157V	probably damaging	Het
Fmn1	T	A	2: 113,194,939 (GRCm39)	L213Q	unknown	Het
Foxo1	T	A	3: 52,253,044 (GRCm39)	Y402*	probably null	Het
Fyb2	C	A	4: 104,857,681 (GRCm39)	F619L	possibly damaging	Het
Gtf2i	A	T	5: 134,322,599 (GRCm39)		probably null	Het
Hrh1	G	A	6: 114,456,878 (GRCm39)	R53H	not run	Het
Hydin	A	T	8: 111,301,626 (GRCm39)	M3786L	probably benign	Het
Ifi207	T	C	1: 173,555,268 (GRCm39)	R805G	possibly damaging	Het
Igfn1	C	A	1: 135,895,797 (GRCm39)	G1590*	probably null	Het
Kbtbd7	T	A	14: 79,666,144 (GRCm39)	F659I	probably benign	Het
Kcns2	A	T	15: 34,839,291 (GRCm39)	Q218L	probably benign	Het
Kcnt2	A	G	1: 140,537,398 (GRCm39)	N1119S	probably benign	Het
Krit1	A	T	5: 3,857,309 (GRCm39)	H38L	probably benign	Het
Krt20	T	A	11: 99,328,663 (GRCm39)	R87S	probably damaging	Het
Ly6g5c	A	G	17: 35,330,808 (GRCm39)	E110G	probably damaging	Het
Mamdc4	A	G	2: 25,454,707 (GRCm39)	F1035S	probably damaging	Het
Mmp13	A	T	9: 7,280,865 (GRCm39)	D416V	probably benign	Het
Nadk	G	T	4: 155,661,524 (GRCm39)	D17Y	probably benign	Het
Nrap	A	T	19: 56,352,768 (GRCm39)	L566*	probably null	Het
Or12d17	T	C	17: 37,777,540 (GRCm39)	F148L	probably benign	Het
Or4b12	A	T	2: 90,096,488 (GRCm39)	C95*	probably null	Het
Or51ai2	T	C	7: 103,586,788 (GRCm39)	L67P	probably damaging	Het
Or5p69	T	C	7: 107,966,741 (GRCm39)	F15L	probably damaging	Het
Pcdhb19	T	C	18: 37,630,367 (GRCm39)	L54P	possibly damaging	Het
Pitpnm2	A	G	5: 124,259,519 (GRCm39)	F1272S	probably damaging	Het
Pml	C	A	9: 58,141,968 (GRCm39)	R288L	probably benign	Het
Reep4	T	C	14: 70,785,627 (GRCm39)	Y186H	probably benign	Het
Rpgrip1	A	G	14: 52,356,702 (GRCm39)	T89A	possibly damaging	Het
Shc1	T	C	3: 89,330,260 (GRCm39)	S175P	probably damaging	Het
Sipa1l3	A	G	7: 29,063,645 (GRCm39)	S1156P	probably damaging	Het
Slc1a3	G	A	15: 8,665,683 (GRCm39)	P522L	probably benign	Het
Slc6a17	T	A	3: 107,381,744 (GRCm39)	T446S	probably damaging	Het
Tas1r2	A	T	4: 139,387,290 (GRCm39)	N250Y	possibly damaging	Het
Tex15	G	T	8: 34,065,874 (GRCm39)	R1768L	probably damaging	Het
Ttll9	G	C	2: 152,844,956 (GRCm39)	Q441H	possibly damaging	Het
Unc5c	T	A	3: 141,171,545 (GRCm39)	V24E	possibly damaging	Het
Unc79	A	G	12: 103,054,726 (GRCm39)	E888G	probably benign	Het
Vmn2r19	T	C	6: 123,312,750 (GRCm39)	S607P	possibly damaging	Het
Vsig1	C	T	X: 139,833,875 (GRCm39)	H232Y	probably benign	Het
Wdfy4	A	G	14: 32,875,965 (GRCm39)		probably null	Het
Zbtb49	T	C	5: 38,358,198 (GRCm39)	D685G	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
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
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'- GTTAGAGCTTCCCACCAGGTTG -3'
(R):5'- TTCCAGGCCACACAGCATTG -3'

Sequencing Primer
(F):5'- TTCCCACCAGGTTGAGGAAGAC -3'
(R):5'- CAAGCAAAGAATTTTGGCTAAAATCC -3'

Posted On

2020-01-23