Mutagenetix > Incidental Mutations

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

Is this an essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R6196 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

61159204-61164256 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 61160531 bp

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]

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: 105,709,922	H241L	possibly damaging	Het
Acap1	T	C	11: 69,887,067	D115G	probably damaging	Het
Acvr2b	T	C	9: 119,433,403	V510A	possibly damaging	Het
Acyp2	C	T	11: 30,506,354	E98K	possibly damaging	Het
Agr2	A	T	12: 35,995,592	K26*	probably null	Het
Aox4	T	A	1: 58,217,526	I69N	probably damaging	Het
Asb4	G	A	6: 5,390,699	G31R	probably benign	Het
Atp6v1c2	C	A	12: 17,301,186	E105*	probably null	Het
Bend6	A	G	1: 33,878,428	Y44H	probably damaging	Het
Btn2a2	C	T	13: 23,487,845	V25M	possibly damaging	Het
Cab39l	T	A	14: 59,499,590	L53Q	probably damaging	Het
Cc2d1b	C	T	4: 108,633,225	R825W	probably damaging	Het
Cdc14b	C	T	13: 64,205,524		probably benign	Het
Cenpu	A	G	8: 46,562,580	R177G	probably benign	Het
Chit1	C	A	1: 134,146,643	Y229*	probably null	Het
Crybg2	C	A	4: 134,081,139	S1350R	probably damaging	Het
Ctdspl2	A	G	2: 121,978,892		probably null	Het
Extl3	T	A	14: 65,076,135	M533L	probably benign	Het
Fam162b	C	A	10: 51,587,410		probably null	Het
Fbxo28	T	C	1: 182,329,889	K121R	probably damaging	Het
Fsip2	A	C	2: 82,989,883	E5320A	possibly damaging	Het
Galc	A	T	12: 98,259,162	D56E	probably damaging	Het
Gm11639	T	G	11: 104,855,560	I2279S	probably benign	Het
Gm5468	A	G	15: 25,414,395		probably benign	Het
Hk1	T	A	10: 62,299,259	H24L	probably damaging	Het
Igkv5-45	A	G	6: 69,775,981	V39A	possibly damaging	Het
Lemd2	G	A	17: 27,193,002	Q439*	probably null	Het
Lgi1	A	G	19: 38,305,809	N295S	probably benign	Het
Macc1	T	G	12: 119,446,050	S184R	probably damaging	Het
Msmo1	A	G	8: 64,727,884		probably benign	Het
Muc5b	C	A	7: 141,851,596	R914S	unknown	Het
Olfr1	G	A	11: 73,395,473	A183V	probably benign	Het
Olfr1464-ps1	A	G	19: 13,282,926	I44T	probably benign	Het
Olfr23	G	A	11: 73,940,809	A188T	possibly damaging	Het
Olfr730	C	A	14: 50,186,678	D180Y	probably damaging	Het
Olfr959	G	A	9: 39,572,480	P260S	possibly damaging	Het
Plekha5	T	C	6: 140,579,453	S14P	probably benign	Het
Pus10	A	G	11: 23,672,638	K86R	probably benign	Het
Rab37	T	C	11: 115,160,306	V147A	probably benign	Het
Sin3a	T	A	9: 57,103,929	I490N	probably damaging	Het
Slc27a4	A	G	2: 29,805,750	D99G	probably benign	Het
Slc43a2	C	T	11: 75,568,380	R413*	probably null	Het
Syna	G	T	5: 134,559,612	T161N	probably benign	Het
T	A	G	17: 8,437,164	D86G	possibly damaging	Het
Tanc1	G	A	2: 59,844,022	E1817K	possibly damaging	Het
Tap2	C	A	17: 34,214,410	Q516K	possibly damaging	Het
Tcaf1	A	T	6: 42,676,807	D717E	probably damaging	Het
Tcf20	G	T	15: 82,851,986	Q1755K	possibly damaging	Het
Tctex1d1	A	G	4: 102,992,569	E63G	possibly damaging	Het
Top2b	T	G	14: 16,409,189	I777M	probably damaging	Het
Trpm7	G	A	2: 126,825,639	P811S	possibly damaging	Het
Uhrf1bp1l	T	G	10: 89,805,333	S789A	probably benign	Het
Vmn2r59	A	G	7: 42,012,255	V712A	probably benign	Het
Vwc2l	T	A	1: 70,729,021	D34E	probably damaging	Het
Wdr35	A	G	12: 9,027,632	K1091E	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
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
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

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