Mutagenetix > Incidental Mutation

Incidental Mutation 'R5479:Ctrl'

434217

Institutional Source

Beutler Lab

Gene Symbol

Ctrl

Ensembl Gene

ENSMUSG00000031896

Gene Name

chymotrypsin-like

Synonyms

1810004D15Rik, Ctra1, Ctra-1, 0910001G08Rik, chymopasin

MMRRC Submission

043040-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

R5479 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

106658635-106660494 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 106659672 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 59 (F59S)

Ref Sequence

ENSEMBL: ENSMUSP00000034368 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034368] [ENSMUST00000034369] [ENSMUST00000049699]

AlphaFold

Q9ER05

Predicted Effect

probably damaging
Transcript: ENSMUST00000034368
AA Change: F59S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000034368
Gene: ENSMUSG00000031896
AA Change: F59S

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Tryp_SPc	33	257	1.41e-92	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000034369

SMART Domains

Protein: ENSMUSP00000034369
Gene: ENSMUSG00000031897

Domain	Start	End	E-Value	Type
Pfam:Proteasome	36	217	3.9e-49	PFAM
Pfam:Pr_beta_C	231	267	3.8e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000049699

SMART Domains

Protein: ENSMUSP00000061700
Gene: ENSMUSG00000048310

Domain	Start	End	E-Value	Type
S_TKc	98	355	1.22e-100	SMART
low complexity region	378	417	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141168

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212044

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212332

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212561

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212595

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212686

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212938

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212876

Coding Region Coverage

1x: 98.4%
3x: 97.4%
10x: 95.4%
20x: 91.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a serine-type endopeptidase with chymotrypsin- and elastase-2-like activities. The gene encoding this zymogen is expressed specifically in the pancreas and likely functions as a digestive enzyme. [provided by RefSeq, Sep 2016]
PHENOTYPE: Four alleles of this locus were identified. The a allele in most laboratory strains and M.m. molossinus; the c allele in IS/Cam and M. castaneus lines; the d allele in SEG/1 and SPE/Pas. The b (presumed null) allele is found in PWD/Ph and PWK/Ph. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl5	G	T	19: 55,268,894 (GRCm39)	C185F	probably damaging	Het
Adad2	C	A	8: 120,341,654 (GRCm39)	T185N	possibly damaging	Het
Apbb1	A	T	7: 105,214,232 (GRCm39)	V315E	probably damaging	Het
Arfrp1	T	C	2: 181,006,191 (GRCm39)	T32A	probably damaging	Het
B020004C17Rik	T	C	14: 57,253,999 (GRCm39)	S41P	probably benign	Het
Celsr3	T	C	9: 108,721,743 (GRCm39)		probably null	Het
Chd8	C	T	14: 52,452,652 (GRCm39)	G1289D	probably benign	Het
Cyp4v3	T	A	8: 45,763,243 (GRCm39)	D356V	probably benign	Het
Dgka	T	A	10: 128,565,541 (GRCm39)		probably null	Het
Dnah7b	T	C	1: 46,262,265 (GRCm39)	Y2043H	probably damaging	Het
Eya3	A	G	4: 132,400,244 (GRCm39)	T88A	possibly damaging	Het
Fat1	A	G	8: 45,489,912 (GRCm39)	D3608G	possibly damaging	Het
Fmo1	T	C	1: 162,677,793 (GRCm39)	T108A	probably damaging	Het
Frs3	A	G	17: 48,012,635 (GRCm39)	E114G	probably damaging	Het
Ftcd	A	T	10: 76,413,850 (GRCm39)	M85L	probably benign	Het
Ggnbp2	T	C	11: 84,745,169 (GRCm39)	S189G	probably benign	Het
Gm3629	C	T	14: 17,875,765 (GRCm39)	R35H	unknown	Het
Gnai2	T	G	9: 107,512,365 (GRCm39)	M18L	probably benign	Het
Gpx5	T	C	13: 21,476,805 (GRCm39)	Y9C	probably benign	Het
Grik1	C	A	16: 87,732,914 (GRCm39)	A668S	probably damaging	Het
Hectd4	A	T	5: 121,445,011 (GRCm39)	M83L	probably benign	Het
Klra9	T	C	6: 130,156,075 (GRCm39)	R227G	probably benign	Het
Maz	A	T	7: 126,624,860 (GRCm39)	V197D	possibly damaging	Het
Mbd5	T	C	2: 49,162,917 (GRCm39)	V241A	probably damaging	Het
Mdga2	C	T	12: 66,701,950 (GRCm39)	C417Y	probably damaging	Het
Mios	C	T	6: 8,215,314 (GRCm39)	T170I	probably benign	Het
Myh13	G	A	11: 67,239,648 (GRCm39)	A733T	probably damaging	Het
Ncam2	C	T	16: 81,231,766 (GRCm39)	R77*	probably null	Het
Nfs1	G	A	2: 155,970,422 (GRCm39)	T297I	probably damaging	Het
Nrbf2	A	G	10: 67,120,870 (GRCm39)		probably null	Het
Nrg1	T	C	8: 32,308,405 (GRCm39)	Y537C	probably damaging	Het
Onecut3	T	A	10: 80,349,856 (GRCm39)	L450Q	probably damaging	Het
Or4p8	T	C	2: 88,727,035 (GRCm39)	D302G	probably benign	Het
Pard3	G	A	8: 128,096,836 (GRCm39)	R333Q	probably damaging	Het
Parp4	T	C	14: 56,861,552 (GRCm39)	F962L	probably benign	Het
Pilra	A	G	5: 137,834,318 (GRCm39)	S22P	possibly damaging	Het
Piwil4	T	C	9: 14,616,337 (GRCm39)	Y673C	probably damaging	Het
Plxna2	G	A	1: 194,476,181 (GRCm39)	D1134N	probably benign	Het
Pnpla7	T	C	2: 24,909,453 (GRCm39)	V681A	possibly damaging	Het
Ppfibp1	T	A	6: 146,931,648 (GRCm39)		probably null	Het
Ptprz1	C	T	6: 23,001,665 (GRCm39)	L1252F	probably benign	Het
Sptb	T	C	12: 76,646,625 (GRCm39)	E1999G	probably benign	Het
Stat3	T	C	11: 100,780,714 (GRCm39)		probably benign	Het
Usp25	T	C	16: 76,904,801 (GRCm39)	V789A	possibly damaging	Het
Zfp148	C	A	16: 33,317,589 (GRCm39)	Q712K	probably damaging	Het

Other mutations in Ctrl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01548:Ctrl	APN	8	106,659,890 (GRCm39)	unclassified	probably benign
IGL01791:Ctrl	APN	8	106,659,199 (GRCm39)	missense	probably benign	0.01
R0546:Ctrl	UTSW	8	106,658,966 (GRCm39)	missense	probably damaging	1.00
R6642:Ctrl	UTSW	8	106,659,451 (GRCm39)	splice site	probably null
R7867:Ctrl	UTSW	8	106,659,497 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AGCTAGTACTTACCCTTGCGATC -3'
(R):5'- TCAGAGAATTGTCAACGGGG -3'

Sequencing Primer
(F):5'- AGTACTTACCCTTGCGATCGAGAG -3'
(R):5'- GAGAATGCAGTGCCAGGCTC -3'

Posted On

2016-10-06