Mutagenetix > Incidental Mutation

Incidental Mutation 'R6196:Ctsr'

502942

Institutional Source

Beutler Lab

Gene Symbol

Ctsr

Ensembl Gene

ENSMUSG00000055679

Gene Name

cathepsin R

Synonyms

MMRRC Submission

044336-MU

Accession Numbers

Essential gene?

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

Stock #

R6196 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

61307029-61312002 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 61308345 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 266 (H266Q)

Ref Sequence

ENSEMBL: ENSMUSP00000021889 (fasta)

Gene Model

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

AlphaFold

Q9JIA9

Predicted Effect

probably benign
Transcript: ENSMUST00000021889
AA Change: H266Q

PolyPhen 2 Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000021889
Gene: ENSMUSG00000055679
AA Change: H266Q

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

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

96% (55/57)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405L10Rik	A	T	8: 106,436,554 (GRCm39)	H241L	possibly damaging	Het
Acap1	T	C	11: 69,777,893 (GRCm39)	D115G	probably damaging	Het
Acvr2b	T	C	9: 119,262,469 (GRCm39)	V510A	possibly damaging	Het
Acyp2	C	T	11: 30,456,354 (GRCm39)	E98K	possibly damaging	Het
Agr2	A	T	12: 36,045,591 (GRCm39)	K26*	probably null	Het
Aox4	T	A	1: 58,256,685 (GRCm39)	I69N	probably damaging	Het
Asb4	G	A	6: 5,390,699 (GRCm39)	G31R	probably benign	Het
Atp6v1c2	C	A	12: 17,351,187 (GRCm39)	E105*	probably null	Het
Bend6	A	G	1: 33,917,509 (GRCm39)	Y44H	probably damaging	Het
Bltp3b	T	G	10: 89,641,195 (GRCm39)	S789A	probably benign	Het
Btn2a2	C	T	13: 23,672,015 (GRCm39)	V25M	possibly damaging	Het
Cab39l	T	A	14: 59,737,039 (GRCm39)	L53Q	probably damaging	Het
Cc2d1b	C	T	4: 108,490,422 (GRCm39)	R825W	probably damaging	Het
Cdc14b	C	T	13: 64,353,338 (GRCm39)		probably benign	Het
Cenpu	A	G	8: 47,015,615 (GRCm39)	R177G	probably benign	Het
Chit1	C	A	1: 134,074,381 (GRCm39)	Y229*	probably null	Het
Crybg2	C	A	4: 133,808,450 (GRCm39)	S1350R	probably damaging	Het
Ctdspl2	A	G	2: 121,809,373 (GRCm39)		probably null	Het
Dynlt5	A	G	4: 102,849,766 (GRCm39)	E63G	possibly damaging	Het
Efcab3	T	G	11: 104,746,386 (GRCm39)	I2279S	probably benign	Het
Extl3	T	A	14: 65,313,584 (GRCm39)	M533L	probably benign	Het
Fam162b	C	A	10: 51,463,506 (GRCm39)		probably null	Het
Fbxo28	T	C	1: 182,157,454 (GRCm39)	K121R	probably damaging	Het
Fsip2	A	C	2: 82,820,227 (GRCm39)	E5320A	possibly damaging	Het
Galc	A	T	12: 98,225,421 (GRCm39)	D56E	probably damaging	Het
Gm5468	A	G	15: 25,414,481 (GRCm39)		probably benign	Het
Hk1	T	A	10: 62,135,038 (GRCm39)	H24L	probably damaging	Het
Igkv5-43	A	G	6: 69,752,965 (GRCm39)	V39A	possibly damaging	Het
Lemd2	G	A	17: 27,411,976 (GRCm39)	Q439*	probably null	Het
Lgi1	A	G	19: 38,294,257 (GRCm39)	N295S	probably benign	Het
Macc1	T	G	12: 119,409,785 (GRCm39)	S184R	probably damaging	Het
Msmo1	A	G	8: 65,180,918 (GRCm39)		probably benign	Het
Muc5b	C	A	7: 141,405,333 (GRCm39)	R914S	unknown	Het
Or10d1	G	A	9: 39,483,776 (GRCm39)	P260S	possibly damaging	Het
Or1e16	G	A	11: 73,286,299 (GRCm39)	A183V	probably benign	Het
Or1e17	G	A	11: 73,831,635 (GRCm39)	A188T	possibly damaging	Het
Or4k2	C	A	14: 50,424,135 (GRCm39)	D180Y	probably damaging	Het
Or5b110-ps1	A	G	19: 13,260,290 (GRCm39)	I44T	probably benign	Het
Plekha5	T	C	6: 140,525,179 (GRCm39)	S14P	probably benign	Het
Pus10	A	G	11: 23,622,638 (GRCm39)	K86R	probably benign	Het
Rab37	T	C	11: 115,051,132 (GRCm39)	V147A	probably benign	Het
Sin3a	T	A	9: 57,011,213 (GRCm39)	I490N	probably damaging	Het
Slc27a4	A	G	2: 29,695,762 (GRCm39)	D99G	probably benign	Het
Slc43a2	C	T	11: 75,459,206 (GRCm39)	R413*	probably null	Het
Syna	G	T	5: 134,588,466 (GRCm39)	T161N	probably benign	Het
T	A	G	17: 8,655,996 (GRCm39)	D86G	possibly damaging	Het
Tanc1	G	A	2: 59,674,366 (GRCm39)	E1817K	possibly damaging	Het
Tap2	C	A	17: 34,433,384 (GRCm39)	Q516K	possibly damaging	Het
Tcaf1	A	T	6: 42,653,741 (GRCm39)	D717E	probably damaging	Het
Tcf20	G	T	15: 82,736,187 (GRCm39)	Q1755K	possibly damaging	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Trpm7	G	A	2: 126,667,559 (GRCm39)	P811S	possibly damaging	Het
Vmn2r59	A	G	7: 41,661,679 (GRCm39)	V712A	probably benign	Het
Vwc2l	T	A	1: 70,768,180 (GRCm39)	D34E	probably damaging	Het
Wdr35	A	G	12: 9,077,632 (GRCm39)	K1091E	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
PIT4687001:Ctsr	UTSW	13	61,308,346 (GRCm39)	missense	possibly damaging	0.52
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
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'- AGGCTATGTATCCAATTGCTGACTTG -3'
(R):5'- GCACATAGACAAGTGTTTACCAAC -3'

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

Posted On

2018-02-27