Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4687001:Ctsr'

556200

Institutional Source

Beutler Lab

Gene Symbol

Ctsr

Ensembl Gene

ENSMUSG00000055679

Gene Name

cathepsin R

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

PIT4687001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

61307029-61312002 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 61308346 bp (GRCm39)

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]

AlphaFold

Q9JIA9

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: 137,995,596 (GRCm39)	V333G	probably damaging	Het
Aggf1	A	G	13: 95,501,383 (GRCm39)	L333P	probably damaging	Het
Ankmy1	A	G	1: 92,812,803 (GRCm39)	V502A	probably benign	Het
Atm	A	G	9: 53,398,112 (GRCm39)		probably null	Het
Ccdc180	A	G	4: 45,949,526 (GRCm39)	T1594A	probably damaging	Het
Cep290	T	A	10: 100,373,453 (GRCm39)	D1244E	probably benign	Het
Ctnna3	A	G	10: 64,670,385 (GRCm39)	D638G	probably damaging	Het
D630045J12Rik	C	T	6: 38,172,036 (GRCm39)	E711K	probably benign	Het
Dnah5	T	C	15: 28,383,723 (GRCm39)	S2982P	probably damaging	Het
Dsg1a	G	T	18: 20,464,755 (GRCm39)	A417S	probably benign	Het
Gdpd1	T	C	11: 86,950,366 (GRCm39)	D69G	probably damaging	Het
Gp2	C	T	7: 119,050,801 (GRCm39)	R310H	possibly damaging	Het
Ifna2	G	A	4: 88,601,542 (GRCm39)	H159Y	possibly damaging	Het
Kptn	T	C	7: 15,859,751 (GRCm39)	V325A	probably damaging	Het
Marchf7	A	G	2: 60,062,622 (GRCm39)	E143G	probably damaging	Het
Mcm4	A	G	16: 15,454,577 (GRCm39)	L47P	probably benign	Het
Mcm8	T	C	2: 132,659,097 (GRCm39)	F27S	possibly damaging	Het
Nod2	T	A	8: 89,408,274 (GRCm39)	V967E	probably damaging	Het
Nrxn2	G	A	19: 6,531,338 (GRCm39)	R659Q	probably benign	Het
Or10al4	T	G	17: 38,037,082 (GRCm39)	C56G	probably benign	Het
Or4x12-ps1	A	G	2: 89,916,733 (GRCm39)	V24A	probably benign	Het
Parp10	C	T	15: 76,125,122 (GRCm39)	R545Q	probably benign	Het
Ppp2r3d	T	C	9: 101,021,579 (GRCm39)	E332G	probably benign	Het
Pramel27	C	T	4: 143,573,103 (GRCm39)		probably benign	Het
Ptpdc1	A	G	13: 48,739,766 (GRCm39)	V555A	probably benign	Het
Qsox2	G	A	2: 26,112,300 (GRCm39)	L81F	possibly damaging	Het
Sbsn	GAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCA	GAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCA	7: 30,452,391 (GRCm39)		probably benign	Het
Spata31	A	G	13: 65,069,151 (GRCm39)	D433G	probably benign	Het
Stpg2	T	C	3: 138,921,026 (GRCm39)	I77T	possibly damaging	Het
Sugp2	T	C	8: 70,710,162 (GRCm39)	S928P	probably damaging	Het
Syne1	A	G	10: 5,308,390 (GRCm39)	S722P	possibly damaging	Het
Szt2	A	T	4: 118,255,398 (GRCm39)	S229T	possibly damaging	Het
Tm9sf3	A	G	19: 41,206,630 (GRCm39)	L505P	probably damaging	Het
Ttc39d	G	A	17: 80,524,354 (GRCm39)	A338T	probably damaging	Het
Ubash3b	A	G	9: 40,934,814 (GRCm39)	F489L	probably damaging	Het
Xpo7	A	T	14: 70,904,589 (GRCm39)	Y1015N	probably benign	Het
Zbtb14	C	A	17: 69,695,302 (GRCm39)	Y333*	probably null	Het
Zp2	T	C	7: 119,741,102 (GRCm39)	T141A	probably benign	Het

Other mutations in Ctsr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00647:Ctsr	APN	13	61,310,556 (GRCm39)	missense	probably damaging	1.00
IGL01327:Ctsr	APN	13	61,310,489 (GRCm39)	splice site	probably benign
IGL02169:Ctsr	APN	13	61,311,054 (GRCm39)	splice site	probably benign
IGL02516:Ctsr	APN	13	61,310,992 (GRCm39)	missense	probably benign
IGL02739:Ctsr	APN	13	61,309,658 (GRCm39)	missense	probably benign	0.01
R0180:Ctsr	UTSW	13	61,310,559 (GRCm39)	missense	probably damaging	1.00
R1938:Ctsr	UTSW	13	61,310,259 (GRCm39)	missense	probably benign	0.00
R2362:Ctsr	UTSW	13	61,310,610 (GRCm39)	missense	probably damaging	1.00
R3856:Ctsr	UTSW	13	61,309,750 (GRCm39)	missense	possibly damaging	0.75
R4125:Ctsr	UTSW	13	61,309,659 (GRCm39)	missense	probably benign	0.17
R4135:Ctsr	UTSW	13	61,309,084 (GRCm39)	missense	probably benign	0.15
R4903:Ctsr	UTSW	13	61,310,945 (GRCm39)	missense	probably benign	0.01
R5551:Ctsr	UTSW	13	61,307,357 (GRCm39)	missense	probably damaging	1.00
R5705:Ctsr	UTSW	13	61,309,078 (GRCm39)	missense	probably damaging	1.00
R5721:Ctsr	UTSW	13	61,309,667 (GRCm39)	missense	possibly damaging	0.84
R6132:Ctsr	UTSW	13	61,309,582 (GRCm39)	critical splice donor site	probably null
R6196:Ctsr	UTSW	13	61,308,345 (GRCm39)	missense	probably benign	0.09
R6719:Ctsr	UTSW	13	61,308,265 (GRCm39)	missense	possibly damaging	0.60
R7530:Ctsr	UTSW	13	61,310,931 (GRCm39)	missense	probably damaging	1.00
R7698:Ctsr	UTSW	13	61,310,381 (GRCm39)	missense	probably benign	0.01
R7963:Ctsr	UTSW	13	61,310,276 (GRCm39)	missense	probably damaging	1.00
R8251:Ctsr	UTSW	13	61,310,592 (GRCm39)	missense	probably damaging	1.00
R8431:Ctsr	UTSW	13	61,308,304 (GRCm39)	missense	probably damaging	1.00
R8810:Ctsr	UTSW	13	61,309,639 (GRCm39)	missense	probably damaging	1.00
R9464:Ctsr	UTSW	13	61,307,295 (GRCm39)	missense	possibly damaging	0.46
R9572:Ctsr	UTSW	13	61,310,978 (GRCm39)	missense	probably benign

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