Mutagenetix > Incidental Mutation

Incidental Mutation 'R0080:Jsrp1'

19645

Institutional Source

Beutler Lab

Gene Symbol

Jsrp1

Ensembl Gene

ENSMUSG00000020216

Gene Name

junctional sarcoplasmic reticulum protein 1

Synonyms

JP-45, JP45, 2310032K21Rik, 2300003C06Rik

MMRRC Submission

038367-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0080 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

80644330-80649332 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 80646349 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 70 (M70L)

Ref Sequence

ENSEMBL: ENSMUSP00000137666 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020435] [ENSMUST00000036016] [ENSMUST00000180438] [ENSMUST00000181039] [ENSMUST00000181945]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000020435
AA Change: M30L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000020435
Gene: ENSMUSG00000020216
AA Change: M30L

Domain	Start	End	E-Value	Type
low complexity region	52	77	N/A	INTRINSIC
Pfam:JSRP	79	138	1e-29	PFAM
low complexity region	145	158	N/A	INTRINSIC
low complexity region	179	192	N/A	INTRINSIC
low complexity region	205	230	N/A	INTRINSIC
low complexity region	273	284	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000036016

SMART Domains

Protein: ENSMUSP00000043153
Gene: ENSMUSG00000035262

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
low complexity region	38	52	N/A	INTRINSIC
Pfam:AMH_N	75	439	3e-133	PFAM
TGFB	456	554	8.57e-36	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000180438
AA Change: M1L

SMART Domains

Protein: ENSMUSP00000137701
Gene: ENSMUSG00000020216
AA Change: M1L

Domain	Start	End	E-Value	Type
low complexity region	23	48	N/A	INTRINSIC
Pfam:JSRP	49	78	3.2e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000181039
AA Change: M70L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000137666
Gene: ENSMUSG00000020216
AA Change: M70L

Domain	Start	End	E-Value	Type
low complexity region	92	117	N/A	INTRINSIC
Pfam:JSRP	118	179	1e-31	PFAM
low complexity region	185	198	N/A	INTRINSIC
low complexity region	219	232	N/A	INTRINSIC
low complexity region	245	270	N/A	INTRINSIC
low complexity region	313	324	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000181945

SMART Domains

Protein: ENSMUSP00000137960
Gene: ENSMUSG00000020216

Domain	Start	End	E-Value	Type
transmembrane domain	53	75	N/A	INTRINSIC

Meta Mutation Damage Score

0.0666

Coding Region Coverage

1x: 99.1%
3x: 97.6%
10x: 93.1%
20x: 79.7%

Validation Efficiency

88% (175/200)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is involved in excitation-contraction coupling at the sarcoplasmic reticulum. The encoded protein can interact with CACNA1S, CACNB1, and calsequestrin to help regulate calcium influx and efflux in skeletal muscle. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mice homozygous for a null allele exhibit muscle weakness, abnormal voluntary movement and abnormal muscle physiology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4732465J04Rik	GATCTATCTATCTATCTATCTATCTATCTATCTATCTATC	GATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATC	10: 95,630,440 (GRCm39)		probably null	Het
Adam17	A	C	12: 21,379,049 (GRCm39)		probably benign	Het
Adcy1	T	C	11: 7,099,497 (GRCm39)		probably benign	Het
Adgb	T	C	10: 10,253,583 (GRCm39)		probably benign	Het
Antkmt	T	C	17: 26,010,548 (GRCm39)	I89V	probably benign	Het
Ccdc180	A	G	4: 45,896,205 (GRCm39)	D118G	probably null	Het
Coro7	A	T	16: 4,448,328 (GRCm39)	L714Q	probably damaging	Het
D2hgdh	A	G	1: 93,754,177 (GRCm39)	Y50C	probably damaging	Het
Dsg1b	T	G	18: 20,530,424 (GRCm39)	S360A	probably damaging	Het
Ednra	T	C	8: 78,401,688 (GRCm39)	I201V	probably benign	Het
Ggt6	A	G	11: 72,328,021 (GRCm39)	T136A	possibly damaging	Het
Gnb5	A	T	9: 75,221,636 (GRCm39)	E28V	possibly damaging	Het
Golgb1	T	C	16: 36,718,973 (GRCm39)	L293P	probably damaging	Het
Gpr179	A	G	11: 97,242,295 (GRCm39)	V183A	probably benign	Het
Grk6	T	C	13: 55,606,723 (GRCm39)	S474P	probably benign	Het
Hectd4	A	G	5: 121,487,435 (GRCm39)	S3477G	probably benign	Het
Hoatz	T	C	9: 51,013,102 (GRCm39)	T57A	probably benign	Het
Irx3	T	C	8: 92,526,954 (GRCm39)	D250G	possibly damaging	Het
Kcmf1	G	T	6: 72,827,470 (GRCm39)		probably null	Het
Med23	T	C	10: 24,788,715 (GRCm39)	V1368A	probably benign	Het
Myl3	A	C	9: 110,596,997 (GRCm39)	D119A	probably damaging	Het
Ncoa6	TGC	TGCGC	2: 155,250,211 (GRCm39)		probably null	Het
Nos1	G	T	5: 118,031,943 (GRCm39)	C297F	probably damaging	Het
Oas1d	G	A	5: 121,054,955 (GRCm39)	A176T	possibly damaging	Het
Odf2l	A	T	3: 144,830,084 (GRCm39)	I19F	possibly damaging	Het
Or6c1b	T	C	10: 129,273,140 (GRCm39)	I153T	possibly damaging	Het
Or6c209	G	A	10: 129,483,522 (GRCm39)	C175Y	probably benign	Het
Pfkfb2	A	T	1: 130,642,279 (GRCm39)	S5R	probably benign	Het
Pign	G	T	1: 105,480,130 (GRCm39)	A848E	probably damaging	Het
Pomgnt2	A	T	9: 121,811,326 (GRCm39)	V485E	probably damaging	Het
Ryr2	T	A	13: 11,583,361 (GRCm39)	K4764N	probably damaging	Het
Scgb1b19	A	G	7: 32,987,067 (GRCm39)	T73A	probably damaging	Het
Slc35d3	T	C	10: 19,724,944 (GRCm39)	E304G	probably damaging	Het
Snta1	A	G	2: 154,225,757 (GRCm39)	V209A	probably benign	Het
Spdye4b	A	T	5: 143,181,430 (GRCm39)	D95V	probably damaging	Het
Srek1	T	C	13: 103,880,194 (GRCm39)	T455A	unknown	Het
Tie1	T	A	4: 118,341,550 (GRCm39)	E254V	probably damaging	Het
Tigd4	A	G	3: 84,501,452 (GRCm39)	H123R	probably benign	Het
Tmem144	G	A	3: 79,746,580 (GRCm39)		probably benign	Het
Trim60	C	T	8: 65,453,251 (GRCm39)	A333T	probably damaging	Het
Vmn2r82	A	T	10: 79,232,339 (GRCm39)	R779S	probably benign	Het
Wdr91	T	C	6: 34,883,620 (GRCm39)	R132G	possibly damaging	Het
Zfp445	A	G	9: 122,681,421 (GRCm39)	V840A	probably damaging	Het

Other mutations in Jsrp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02252:Jsrp1	APN	10	80,644,707 (GRCm39)	missense	probably benign
R2511:Jsrp1	UTSW	10	80,648,140 (GRCm39)	missense	probably benign	0.27
R3904:Jsrp1	UTSW	10	80,648,246 (GRCm39)	start codon destroyed	probably benign	0.14
R4282:Jsrp1	UTSW	10	80,646,190 (GRCm39)	missense	probably benign	0.00
R5366:Jsrp1	UTSW	10	80,646,030 (GRCm39)	nonsense	probably null
R7084:Jsrp1	UTSW	10	80,644,410 (GRCm39)	missense	possibly damaging	0.85
R7204:Jsrp1	UTSW	10	80,646,319 (GRCm39)	missense	probably benign
R7311:Jsrp1	UTSW	10	80,647,906 (GRCm39)	missense	probably benign
R7949:Jsrp1	UTSW	10	80,647,906 (GRCm39)	missense	probably benign
R8756:Jsrp1	UTSW	10	80,647,940 (GRCm39)	critical splice acceptor site	probably null
R9482:Jsrp1	UTSW	10	80,644,734 (GRCm39)	missense	possibly damaging	0.73

Predicted Primers

PCR Primer
(F):5'- GGTCATCGCTTGGCGTCCTT -3'
(R):5'- gctgtctctccagcttcTGTGTATTC -3'

Sequencing Primer
(F):5'- AGCCTGCGGCTTCCTAC -3'
(R):5'- gcaaccaactccaagcaatc -3'

Posted On

2013-04-11