Mutagenetix > Incidental Mutation

Incidental Mutation 'R5641:Ctrc'

440661

Institutional Source

Beutler Lab

Gene Symbol

Ctrc

Ensembl Gene

ENSMUSG00000062478

Gene Name

chymotrypsin C

Synonyms

caldecrin, 1810044E12Rik

Accession Numbers

Essential gene?

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

Stock #

R5641 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

141565550-141573598 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 141566094 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 188 (N188S)

Ref Sequence

ENSEMBL: ENSMUSP00000101407 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037059] [ENSMUST00000105781]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000037059
AA Change: N220S

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000039879
Gene: ENSMUSG00000062478
AA Change: N220S

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
Tryp_SPc	29	261	4.88e-87	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000105781
AA Change: N188S

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101407
Gene: ENSMUSG00000062478
AA Change: N188S

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
Tryp_SPc	29	229	9.66e-59	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153282

Predicted Effect

probably benign
Transcript: ENSMUST00000176781

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the peptidase S1 family. The encoded protein is a serum calcium-decreasing factor that has chymotrypsin-like protease activity. Alternatively spliced transcript variants have been observed, but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	A	T	16: 14,289,877 (GRCm39)	M1398L	probably benign	Het
Acad12	A	G	5: 121,742,084 (GRCm39)		probably benign	Het
Aldh1a7	T	C	19: 20,693,293 (GRCm39)	I209V	probably benign	Het
Alkal2	G	A	12: 30,937,264 (GRCm39)		probably null	Het
Aqr	A	G	2: 113,979,515 (GRCm39)	F307L	probably damaging	Het
Atp2a2	A	G	5: 122,595,639 (GRCm39)	L932P	probably damaging	Het
Atxn7	T	C	14: 14,013,638 (GRCm38)	M113T	probably damaging	Het
Blzf1	T	A	1: 164,134,038 (GRCm39)	M4L	probably benign	Het
Brca2	C	A	5: 150,480,364 (GRCm39)	S2711R	probably damaging	Het
Bzw1	A	T	1: 58,436,883 (GRCm39)	Q70L	probably damaging	Het
Cd34	T	A	1: 194,630,276 (GRCm39)	I70N	probably benign	Het
Chac1	A	G	2: 119,181,999 (GRCm39)	Y39C	probably damaging	Het
Col6a2	G	C	10: 76,449,112 (GRCm39)	P275A	probably damaging	Het
Crb1	T	A	1: 139,176,627 (GRCm39)	N452I	probably damaging	Het
Dnah7b	G	A	1: 46,307,924 (GRCm39)		probably null	Het
Etl4	GGGGAAGAACCGG	GGG	2: 20,811,273 (GRCm39)		probably null	Het
Exoc6	T	A	19: 37,576,081 (GRCm39)		probably null	Het
Gm5616	T	A	9: 48,361,716 (GRCm39)		noncoding transcript	Het
Gm7535	T	C	17: 18,131,788 (GRCm39)		probably benign	Het
Hnrnpr	T	C	4: 136,059,798 (GRCm39)	S200P	probably damaging	Het
Ighg2b	T	C	12: 113,270,767 (GRCm39)	N121S	unknown	Het
Il21	T	A	3: 37,281,917 (GRCm39)	K76*	probably null	Het
Jup	T	A	11: 100,267,632 (GRCm39)	T564S	possibly damaging	Het
Kcns2	G	C	15: 34,839,199 (GRCm39)	R187S	possibly damaging	Het
Klhl18	G	A	9: 110,275,896 (GRCm39)	T84M	probably damaging	Het
Mtor	T	A	4: 148,630,882 (GRCm39)	L2280M	probably damaging	Het
Ncoa6	A	G	2: 155,263,756 (GRCm39)	I226T	probably benign	Het
Nipbl	A	T	15: 8,396,196 (GRCm39)	Y126N	possibly damaging	Het
Nlrp4a	T	A	7: 26,149,589 (GRCm39)	C399S	probably damaging	Het
Nphp3	A	G	9: 103,913,352 (GRCm39)	K54E	probably damaging	Het
Nsun2	T	A	13: 69,771,368 (GRCm39)	V326E	probably benign	Het
Oosp3	T	C	19: 11,674,537 (GRCm39)		probably null	Het
Or4k15b	A	G	14: 50,272,746 (GRCm39)	I38T	probably benign	Het
Pcdhga9	T	C	18: 37,871,301 (GRCm39)	S377P	probably damaging	Het
Pdlim3	A	G	8: 46,368,300 (GRCm39)		probably null	Het
Pla2r1	A	T	2: 60,345,328 (GRCm39)	W343R	probably damaging	Het
Prox2	A	G	12: 85,134,721 (GRCm39)	V520A	probably benign	Het
Rfx3	T	C	19: 27,771,008 (GRCm39)		probably null	Het
Rif1	A	C	2: 52,011,170 (GRCm39)	R2412S	possibly damaging	Het
Rreb1	T	C	13: 38,131,397 (GRCm39)	L1517P	probably benign	Het
Rxfp1	T	C	3: 79,594,199 (GRCm39)	N65S	probably damaging	Het
Sbf2	T	C	7: 110,038,108 (GRCm39)	E399G	probably damaging	Het
Slc36a4	A	C	9: 15,640,098 (GRCm39)		probably null	Het
Slco1a1	A	T	6: 141,885,695 (GRCm39)	M110K	probably damaging	Het
Stat5a	T	A	11: 100,767,634 (GRCm39)	C401S	probably benign	Het
Ticam1	TCACACA	TCACA	17: 56,577,629 (GRCm39)		probably null	Het
Tmem150c	T	C	5: 100,231,523 (GRCm39)	T151A	probably damaging	Het
Ube4a	A	T	9: 44,862,179 (GRCm39)	M173K	probably damaging	Het
Vmn1r188	A	T	13: 22,272,342 (GRCm39)	S99C	probably damaging	Het
Vmn2r70	C	T	7: 85,208,572 (GRCm39)	C635Y	probably damaging	Het
Zfp644	T	C	5: 106,767,461 (GRCm39)	K24E	probably damaging	Het

Other mutations in Ctrc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01137:Ctrc	APN	4	141,566,065 (GRCm39)	missense	possibly damaging	0.84
IGL01727:Ctrc	APN	4	141,571,072 (GRCm39)	missense	probably damaging	1.00
IGL02085:Ctrc	APN	4	141,571,025 (GRCm39)	missense	possibly damaging	0.79
IGL02413:Ctrc	APN	4	141,571,028 (GRCm39)	missense	possibly damaging	0.87
IGL02945:Ctrc	APN	4	141,573,563 (GRCm39)	missense	possibly damaging	0.93
R0625:Ctrc	UTSW	4	141,568,829 (GRCm39)	missense	probably damaging	1.00
R1458:Ctrc	UTSW	4	141,573,535 (GRCm39)	splice site	probably null
R1460:Ctrc	UTSW	4	141,566,120 (GRCm39)	intron	probably benign
R3937:Ctrc	UTSW	4	141,567,632 (GRCm39)	missense	probably damaging	1.00
R4724:Ctrc	UTSW	4	141,573,607 (GRCm39)	splice site	probably null
R4750:Ctrc	UTSW	4	141,568,834 (GRCm39)	missense	probably benign	0.38
R5207:Ctrc	UTSW	4	141,567,695 (GRCm39)	missense	probably damaging	0.97
R5326:Ctrc	UTSW	4	141,571,037 (GRCm39)	missense	probably damaging	0.96
R5542:Ctrc	UTSW	4	141,571,037 (GRCm39)	missense	probably damaging	0.96
R5872:Ctrc	UTSW	4	141,572,354 (GRCm39)	missense	probably damaging	1.00
R6932:Ctrc	UTSW	4	141,568,879 (GRCm39)	missense	probably damaging	1.00
R7329:Ctrc	UTSW	4	141,571,022 (GRCm39)	missense	probably benign	0.17
R7485:Ctrc	UTSW	4	141,567,627 (GRCm39)	missense	probably damaging	1.00
R8001:Ctrc	UTSW	4	141,567,671 (GRCm39)	missense	probably damaging	1.00
R8117:Ctrc	UTSW	4	141,565,972 (GRCm39)	missense	probably damaging	1.00
R9644:Ctrc	UTSW	4	141,572,336 (GRCm39)	missense	probably damaging	1.00
T0722:Ctrc	UTSW	4	141,572,507 (GRCm39)	frame shift	probably null
T0975:Ctrc	UTSW	4	141,572,507 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TCTTAAGTGGCCAGTGAAGG -3'
(R):5'- TAGCTGACACCTCAGGGTTG -3'

Sequencing Primer
(F):5'- CCAGTGAAGGAGGCTGC -3'
(R):5'- AGGGTTGGCCTCACAGGATG -3'

Posted On

2016-11-08