Mutagenetix > Incidental Mutation

Incidental Mutation 'R1876:Casp1'

211234

Institutional Source

Beutler Lab

Gene Symbol

Casp1

Ensembl Gene

ENSMUSG00000025888

Gene Name

caspase 1

Synonyms

ICE, Il1bc, Caspase-1, interleukin 1 beta-converting enzyme

MMRRC Submission

039898-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1876 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

5298517-5307265 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 5303663 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 250 (E250K)

Ref Sequence

ENSEMBL: ENSMUSP00000027015 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027015]

AlphaFold

P29452

Predicted Effect

probably benign
Transcript: ENSMUST00000027015
AA Change: E250K

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000027015
Gene: ENSMUSG00000025888
AA Change: E250K

Domain	Start	End	E-Value	Type
CARD	4	89	4.91e-19	SMART
CASc	151	400	1.82e-136	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 97.3%
3x: 96.7%
10x: 95.1%
20x: 92.2%

Validation Efficiency

99% (82/83)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which is a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce 2 subunits, large and small, that dimerize to form the active enzyme. This gene was identified by its ability to proteolytically cleave and activate the inactive precursor of interleukin-1, a cytokine involved in the processes such as inflammation, septic shock, and wound healing. This gene has been shown to induce cell apoptosis and may function in various developmental stages. Studies of a similar gene in mouse suggest a role in the pathogenesis of Huntington disease. Alternative splicing results in transcript variants encoding distinct isoforms. [provided by RefSeq, Mar 2012]
PHENOTYPE: Homozygous targeted mutants fail to produce mature IL1A and IL1B and are resistant to LPS-induced endotoxin shock and to FAS antibody-induced apoptosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	C	A	5: 76,877,549	C961F	probably damaging	Het
Abca16	A	C	7: 120,433,385	D209A	probably damaging	Het
Adamts14	T	C	10: 61,200,372	I1047V	probably benign	Het
Ak1	A	G	2: 32,630,270	K27E	probably damaging	Het
Akap9	T	A	5: 3,961,809	D837E	probably benign	Het
Arfgef3	T	C	10: 18,597,356	Y1653C	probably damaging	Het
Atad2	T	G	15: 58,106,868	I446L	probably benign	Het
Atp8b3	T	G	10: 80,530,078	T313P	possibly damaging	Het
Btg4	T	C	9: 51,117,189	L72S	probably damaging	Het
Canx	A	G	11: 50,304,359	I294T	probably damaging	Het
Chchd10	T	A	10: 75,936,332	S46T	probably benign	Het
Col12a1	G	T	9: 79,678,281	Y1271*	probably null	Het
Col3a1	G	A	1: 45,342,235		probably null	Het
Ctc1	A	T	11: 69,031,564	T872S	probably benign	Het
Cx3cl1	T	C	8: 94,780,420	F351S	probably damaging	Het
Cyb5r4	T	A	9: 87,055,814	H295Q	probably damaging	Het
Cyp2j7	T	C	4: 96,217,419	T285A	probably benign	Het
Dip2a	G	A	10: 76,318,091	T135M	probably damaging	Het
Fgf10	A	G	13: 118,789,159	E158G	probably damaging	Het
Ftcd	G	T	10: 76,581,569	A281S	probably benign	Het
Gm16368	T	G	12: 88,084,040	I115S	probably damaging	Het
Gpat4	A	T	8: 23,179,470	M333K	possibly damaging	Het
Gpcpd1	A	G	2: 132,534,753	L541P	probably damaging	Het
Grk5	T	C	19: 61,083,225	Y408H	probably damaging	Het
Hcrtr2	A	G	9: 76,246,345		probably null	Het
Hsd17b13	T	A	5: 103,968,767	N127I	probably damaging	Het
Hspa4	T	G	11: 53,284,156	D158A	probably benign	Het
Ice2	G	A	9: 69,415,575	A451T	possibly damaging	Het
Inpp5e	A	T	2: 26,408,157	I144K	possibly damaging	Het
Kirrel	C	T	3: 87,089,151	M380I	probably null	Het
Lrrc49	T	C	9: 60,587,777	I652V	possibly damaging	Het
Man1a	A	T	10: 53,919,172	W571R	probably damaging	Het
Mecom	A	G	3: 29,993,658	S32P	probably damaging	Het
Mrpl40	A	G	16: 18,872,474	I162T	probably benign	Het
Mslnl	G	A	17: 25,742,934	V128M	probably damaging	Het
Mtmr12	T	C	15: 12,257,630	W265R	probably damaging	Het
Mup21	C	T	4: 62,149,426	V79I	probably benign	Het
Myh11	G	A	16: 14,269,103		probably benign	Het
Myom3	T	A	4: 135,779,400	F495I	probably benign	Het
Ncoa7	A	T	10: 30,698,126		probably benign	Het
Nisch	T	C	14: 31,173,637	Y45C	probably damaging	Het
Nkain2	T	A	10: 32,890,439		probably benign	Het
Olfr356	A	T	2: 36,937,763	I215F	possibly damaging	Het
Olfr728	A	G	14: 50,140,172	S156P	probably damaging	Het
Pdcl	A	C	2: 37,355,696	H98Q	probably damaging	Het
Pink1	A	G	4: 138,315,702	V427A	probably damaging	Het
Plce1	T	C	19: 38,780,623	S2242P	probably damaging	Het
Plrg1	C	A	3: 83,069,068		probably benign	Het
Plxnc1	A	G	10: 94,866,941	F586S	possibly damaging	Het
Pnpla7	G	A	2: 25,040,973	V867M	possibly damaging	Het
Ppfia3	T	A	7: 45,352,207	D427V	possibly damaging	Het
Ppp6r3	A	T	19: 3,471,971		probably benign	Het
Pros1	A	T	16: 62,903,518	S210C	probably damaging	Het
Ptk2b	A	G	14: 66,158,392	S839P	probably benign	Het
Ptpre	T	C	7: 135,678,317	V570A	possibly damaging	Het
Rbm48	C	T	5: 3,595,259	A142T	probably damaging	Het
Safb2	T	C	17: 56,576,909		probably null	Het
Scnn1a	A	G	6: 125,338,838	E384G	probably benign	Het
Sec23ip	A	G	7: 128,752,851	Y277C	probably benign	Het
Slc25a29	G	A	12: 108,827,711	T42M	probably damaging	Het
Slc6a4	A	T	11: 77,015,164	T264S	probably benign	Het
Srgap3	A	G	6: 112,775,566	M319T	probably damaging	Het
Strn4	T	A	7: 16,838,282	I640N	probably damaging	Het
Tacc2	A	G	7: 130,623,745	D739G	probably benign	Het
Tigd4	T	A	3: 84,593,935	L53*	probably null	Het
Tlr6	T	A	5: 64,955,420	D48V	probably damaging	Het
Tmem125	T	C	4: 118,541,904	D110G	probably damaging	Het
Tmem198	A	G	1: 75,484,923	D341G	probably damaging	Het
Tnfaip3	A	G	10: 19,004,934	F462L	possibly damaging	Het
Tnrc6a	CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT	CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT	7: 123,162,446		probably benign	Het
Ush2a	T	A	1: 188,678,289	I2378N	possibly damaging	Het
Usp47	A	G	7: 112,054,920	T108A	probably damaging	Het
Vmn1r236	T	A	17: 21,286,638	I6K	probably benign	Het
Vmn2r65	A	T	7: 84,946,297	V393D	probably damaging	Het

Other mutations in Casp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00235:Casp1	APN	9	5299872	splice site	probably benign
IGL00667:Casp1	APN	9	5303756	missense	probably benign	0.40
IGL01998:Casp1	APN	9	5303043	missense	probably damaging	1.00
IGL02248:Casp1	APN	9	5299452	missense	probably benign	0.01
IGL02469:Casp1	APN	9	5303105	missense	probably benign	0.19
P0027:Casp1	UTSW	9	5299851	missense	probably benign	0.00
PIT4305001:Casp1	UTSW	9	5306135	missense	probably benign	0.03
R0724:Casp1	UTSW	9	5303077	missense	probably benign
R1169:Casp1	UTSW	9	5299454	missense	possibly damaging	0.93
R2316:Casp1	UTSW	9	5306213	missense	possibly damaging	0.92
R2877:Casp1	UTSW	9	5303110	missense	probably damaging	1.00
R2885:Casp1	UTSW	9	5299851	missense	probably benign	0.00
R4043:Casp1	UTSW	9	5302444	missense	probably benign
R4367:Casp1	UTSW	9	5299333	missense	probably benign	0.41
R4656:Casp1	UTSW	9	5304324	missense	probably damaging	1.00
R4705:Casp1	UTSW	9	5306204	missense	probably damaging	1.00
R4790:Casp1	UTSW	9	5303020	missense	probably benign	0.01
R4858:Casp1	UTSW	9	5306742	missense	probably damaging	1.00
R5607:Casp1	UTSW	9	5303143	missense	probably damaging	1.00
R5784:Casp1	UTSW	9	5299337	missense	probably damaging	0.98
R6578:Casp1	UTSW	9	5304280	missense	probably benign	0.04
R7111:Casp1	UTSW	9	5299816	missense	probably benign	0.01
R7215:Casp1	UTSW	9	5298523	splice site	probably null
R7590:Casp1	UTSW	9	5306710	missense	probably damaging	1.00
R8002:Casp1	UTSW	9	5303164	missense	possibly damaging	0.94
R8510:Casp1	UTSW	9	5303026	missense	probably damaging	1.00
R8902:Casp1	UTSW	9	5299333	missense	probably benign	0.41
R9234:Casp1	UTSW	9	5303128	missense	probably benign	0.04
R9471:Casp1	UTSW	9	5304187	missense	probably benign	0.13
R9747:Casp1	UTSW	9	5299322	missense	probably damaging	1.00
T0722:Casp1	UTSW	9	5299851	missense	probably benign	0.00
X0003:Casp1	UTSW	9	5299851	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACTCCTTTTACTGTCCTTAGAGAAG -3'
(R):5'- GTTTGATATTCAGGAATCAACCCC -3'

Sequencing Primer
(F):5'- ACTGTCCTTAGAGAAGTCAAAGTG -3'
(R):5'- TATTCAGGAATCAACCCCAAACACTG -3'

Posted On

2014-06-30