Mutagenetix > Incidental Mutations

Incidental Mutation 'R2362:Ctsr'

247195

Institutional Source

Beutler Lab

Gene Symbol

Ctsr

Ensembl Gene

ENSMUSG00000055679

Gene Name

cathepsin R

Synonyms

MMRRC Submission

040343-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.109) question?

Stock #

R2362 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

61159204-61164256 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 61162796 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 45 (E45V)

Ref Sequence

ENSEMBL: ENSMUSP00000021889 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021889]

AlphaFold

Q9JIA9

Predicted Effect

probably damaging
Transcript: ENSMUST00000021889
AA Change: E45V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000021889
Gene: ENSMUSG00000055679
AA Change: E45V

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Inhibitor_I29	29	88	1.68e-21	SMART
Pept_C1	115	333	1.59e-111	SMART

Meta Mutation Damage Score

0.9515

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 94.9%

Validation Efficiency

100% (35/35)

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630073D07Rik	A	T	6: 132,627,479	M1K	probably null	Het
Aadat	A	G	8: 60,532,298		probably benign	Het
Acsm5	T	C	7: 119,528,426		probably benign	Het
Avl9	A	T	6: 56,736,570	N271I	probably benign	Het
Ccdc30	T	A	4: 119,324,056	N636I	probably damaging	Het
Cdr2	T	G	7: 120,970,331	I62L	possibly damaging	Het
Clk3	T	C	9: 57,754,619	I382V	possibly damaging	Het
Cyp2b19	A	G	7: 26,764,377	Y318C	probably damaging	Het
Dab1	C	T	4: 104,731,751	A524V	probably benign	Het
Dapk1	A	G	13: 60,730,931	N578S	probably damaging	Het
Dlg5	A	T	14: 24,158,687	M817K	probably benign	Het
Dtx4	A	G	19: 12,492,535	V76A	probably damaging	Het
Eps15	T	C	4: 109,361,230	V430A	probably benign	Het
Fam160b2	A	G	14: 70,586,365	Y568H	probably benign	Het
Fxyd5	T	C	7: 31,036,471	N104S	probably benign	Het
Gm5155	T	G	7: 17,902,473		noncoding transcript	Het
Ift122	A	G	6: 115,884,350	D193G	probably damaging	Het
Lrrcc1	A	G	3: 14,563,024	E542G	probably damaging	Het
Macc1	T	C	12: 119,447,658		probably benign	Het
Ndst3	T	A	3: 123,552,678	Y234F	possibly damaging	Het
Olfr1477	A	T	19: 13,502,508	H55L	probably damaging	Het
Pes1	T	C	11: 3,977,123	F429S	probably damaging	Het
Polr3e	C	G	7: 120,942,564	D623E	probably damaging	Het
Rapgef6	T	C	11: 54,694,272	Y1494H	probably damaging	Het
Rbm14	T	C	19: 4,801,707		probably benign	Het
Rnf103	A	G	6: 71,510,017	D544G	probably benign	Het
Slc10a7	A	G	8: 78,509,632	I20V	probably damaging	Het
Sort1	C	T	3: 108,346,665	T549I	possibly damaging	Het
Stambpl1	G	A	19: 34,236,354	V328I	probably benign	Het
Thbd	A	G	2: 148,406,364	L528P	probably damaging	Het
Wbp11	A	T	6: 136,824,332	M63K	probably damaging	Het
Wdr11	T	A	7: 129,634,836	I1178N	probably benign	Het

Other mutations in Ctsr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00647:Ctsr	APN	13	61162742	missense	probably damaging	1.00
IGL01327:Ctsr	APN	13	61162675	splice site	probably benign
IGL02169:Ctsr	APN	13	61163240	splice site	probably benign
IGL02516:Ctsr	APN	13	61163178	missense	probably benign
IGL02739:Ctsr	APN	13	61161844	missense	probably benign	0.01
PIT4687001:Ctsr	UTSW	13	61160532	missense	possibly damaging	0.52
R0180:Ctsr	UTSW	13	61162745	missense	probably damaging	1.00
R1938:Ctsr	UTSW	13	61162445	missense	probably benign	0.00
R3856:Ctsr	UTSW	13	61161936	missense	possibly damaging	0.75
R4125:Ctsr	UTSW	13	61161845	missense	probably benign	0.17
R4135:Ctsr	UTSW	13	61161270	missense	probably benign	0.15
R4903:Ctsr	UTSW	13	61163131	missense	probably benign	0.01
R5551:Ctsr	UTSW	13	61159543	missense	probably damaging	1.00
R5705:Ctsr	UTSW	13	61161264	missense	probably damaging	1.00
R5721:Ctsr	UTSW	13	61161853	missense	possibly damaging	0.84
R6132:Ctsr	UTSW	13	61161768	critical splice donor site	probably null
R6196:Ctsr	UTSW	13	61160531	missense	probably benign	0.09
R6719:Ctsr	UTSW	13	61160451	missense	possibly damaging	0.60
R7530:Ctsr	UTSW	13	61163117	missense	probably damaging	1.00
R7698:Ctsr	UTSW	13	61162567	missense	probably benign	0.01
R7963:Ctsr	UTSW	13	61162462	missense	probably damaging	1.00
R8251:Ctsr	UTSW	13	61162778	missense	probably damaging	1.00
R8431:Ctsr	UTSW	13	61160490	missense	probably damaging	1.00
R8810:Ctsr	UTSW	13	61161825	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTCTCTGTGAGTCCAAACTG -3'
(R):5'- CAACCACTGGTAGAACAGGGTG -3'

Sequencing Primer
(F):5'- CTGAATTCTTCATCAGTCTTCAAGG -3'
(R):5'- AACAGGGTGGTCAGATTCCC -3'

Posted On

2014-10-30