Mutagenetix > Incidental Mutations

Incidental Mutation 'PIT4687001:Ctsr'

556200

Institutional Source

Beutler Lab

Gene Symbol

Ctsr

Ensembl Gene

ENSMUSG00000055679

Gene Name

cathepsin R

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

PIT4687001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

61159204-61164256 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 61160532 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 266 (H266R)

Ref Sequence

ENSEMBL: ENSMUSP00000021889 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021889
AA Change: H266R

PolyPhen 2 Score 0.516 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000021889
Gene: ENSMUSG00000055679
AA Change: H266R

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

Coding Region Coverage

1x: 93.4%
3x: 90.8%
10x: 84.7%
20x: 71.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adh1	T	G	3: 138,289,835	V333G	probably damaging	Het
Aggf1	A	G	13: 95,364,875	L333P	probably damaging	Het
Ankmy1	A	G	1: 92,885,081	V502A	probably benign	Het
Atm	A	G	9: 53,486,812		probably null	Het
Ccdc180	A	G	4: 45,949,526	T1594A	probably damaging	Het
Cep290	T	A	10: 100,537,591	D1244E	probably benign	Het
Ctnna3	A	G	10: 64,834,606	D638G	probably damaging	Het
D630045J12Rik	C	T	6: 38,195,101	E711K	probably benign	Het
Dnah5	T	C	15: 28,383,577	S2982P	probably damaging	Het
Dsg1a	G	T	18: 20,331,698	A417S	probably benign	Het
Gdpd1	T	C	11: 87,059,540	D69G	probably damaging	Het
Gm13103	C	T	4: 143,846,533		probably benign	Het
Gp2	C	T	7: 119,451,578	R310H	possibly damaging	Het
Ifna2	G	A	4: 88,683,305	H159Y	possibly damaging	Het
Kptn	T	C	7: 16,125,826	V325A	probably damaging	Het
March7	A	G	2: 60,232,278	E143G	probably damaging	Het
Mcm4	A	G	16: 15,636,713	L47P	probably benign	Het
Mcm8	T	C	2: 132,817,177	F27S	possibly damaging	Het
Nod2	T	A	8: 88,681,646	V967E	probably damaging	Het
Nrxn2	G	A	19: 6,481,308	R659Q	probably benign	Het
Olfr120	T	G	17: 37,726,191	C56G	probably benign	Het
Olfr1267-ps1	A	G	2: 90,086,389	V24A	probably benign	Het
Parp10	C	T	15: 76,240,922	R545Q	probably benign	Het
Ppp2r3a	T	C	9: 101,144,380	E332G	probably benign	Het
Ptpdc1	A	G	13: 48,586,290	V555A	probably benign	Het
Qsox2	G	A	2: 26,222,288	L81F	possibly damaging	Het
Sbsn	GAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCA	GAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCA	7: 30,752,966		probably benign	Het
Spata31	A	G	13: 64,921,337	D433G	probably benign	Het
Stpg2	T	C	3: 139,215,265	I77T	possibly damaging	Het
Sugp2	T	C	8: 70,257,512	S928P	probably damaging	Het
Syne1	A	G	10: 5,358,390	S722P	possibly damaging	Het
Szt2	A	T	4: 118,398,201	S229T	possibly damaging	Het
Tm9sf3	A	G	19: 41,218,191	L505P	probably damaging	Het
Ttc39d	G	A	17: 80,216,925	A338T	probably damaging	Het
Ubash3b	A	G	9: 41,023,518	F489L	probably damaging	Het
Xpo7	A	T	14: 70,667,149	Y1015N	probably benign	Het
Zbtb14	C	A	17: 69,388,307	Y333*	probably null	Het
Zp2	T	C	7: 120,141,879	T141A	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
R0180:Ctsr	UTSW	13	61162745	missense	probably damaging	1.00
R1938:Ctsr	UTSW	13	61162445	missense	probably benign	0.00
R2362:Ctsr	UTSW	13	61162796	missense	probably damaging	1.00
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

Predicted Primers

PCR Primer
(F):5'- GCTGACTTGCAACAGGAAAATTC -3'
(R):5'- AGCACATAGACAAGTGTTTACCAAC -3'

Sequencing Primer
(F):5'- ATCCCCCTGAAATGTTAGGCAGTG -3'
(R):5'- AGACAAGTGTTTACCAACAAATAAAC -3'

Posted On

2019-06-07