Mutagenetix > Incidental Mutation

Incidental Mutation 'R7349:Casp12'

570430

Institutional Source

Beutler Lab

Gene Symbol

Casp12

Ensembl Gene

ENSMUSG00000025887

Gene Name

caspase 12

Synonyms

MMRRC Submission

045435-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7349 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

5345430-5373032 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 5345527 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000027009 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027009] [ENSMUST00000027009] [ENSMUST00000151332] [ENSMUST00000151788]

AlphaFold

O08736

Predicted Effect

probably null
Transcript: ENSMUST00000027009

SMART Domains

Protein: ENSMUSP00000027009
Gene: ENSMUSG00000025887

Domain	Start	End	E-Value	Type
CARD	1	83	3.54e-2	SMART
CASc	165	417	2.59e-132	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000027009

SMART Domains

Protein: ENSMUSP00000027009
Gene: ENSMUSG00000025887

Domain	Start	End	E-Value	Type
CARD	1	83	3.54e-2	SMART
CASc	165	417	2.59e-132	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000151332

SMART Domains

Protein: ENSMUSP00000122201
Gene: ENSMUSG00000025887

Domain	Start	End	E-Value	Type
CASc	95	347	2.59e-132	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000151788

SMART Domains

Protein: ENSMUSP00000121565
Gene: ENSMUSG00000025887

Domain	Start	End	E-Value	Type
CARD	1	83	3.54e-2	SMART
Pfam:Peptidase_C14	176	230	1.1e-8	PFAM

Meta Mutation Damage Score

0.9493

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (70/70)

MGI Phenotype

PHENOTYPE: Homozygous mice for some mutations of this gene display resistance to ER stress-induced apoptosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	T	A	13: 60,990,717 (GRCm39)	T326S	possibly damaging	Het
Acly	A	T	11: 100,412,817 (GRCm39)	H91Q	probably benign	Het
Acp3	T	A	9: 104,168,657 (GRCm39)	I403F	probably benign	Het
Angpt2	T	A	8: 18,742,090 (GRCm39)	M489L	probably damaging	Het
Arap1	T	C	7: 101,039,435 (GRCm39)	I565T	possibly damaging	Het
Atg16l2	T	C	7: 100,939,473 (GRCm39)	D563G	probably damaging	Het
Atp6v0a2	T	A	5: 124,789,392 (GRCm39)	Y386*	probably null	Het
Atp8b4	A	G	2: 126,167,265 (GRCm39)	V1078A	probably benign	Het
Bsn	T	C	9: 107,987,982 (GRCm39)	D2590G	unknown	Het
Ccdc87	T	C	19: 4,891,868 (GRCm39)	S787P	probably damaging	Het
Cdh13	A	G	8: 119,969,097 (GRCm39)	T485A	probably damaging	Het
Cstdc5	A	G	16: 36,184,674 (GRCm39)	V23A	probably damaging	Het
Dip2a	T	C	10: 76,121,426 (GRCm39)	H810R	probably damaging	Het
Dmbt1	A	T	7: 130,642,854 (GRCm39)	Y120F	unknown	Het
Dmgdh	C	T	13: 93,888,741 (GRCm39)	T793I	possibly damaging	Het
Dnhd1	A	G	7: 105,359,330 (GRCm39)	D3555G	probably damaging	Het
Eif4e1b	T	C	13: 54,932,006 (GRCm39)	V30A	probably benign	Het
Ercc5	T	G	1: 44,220,068 (GRCm39)	D1113E	possibly damaging	Het
Fbn1	T	C	2: 125,157,321 (GRCm39)	N2321D	possibly damaging	Het
Fbrs	T	C	7: 127,081,971 (GRCm39)	L237P	probably damaging	Het
Flg2	T	A	3: 93,127,513 (GRCm39)	S2142T	unknown	Het
Ftsj3	G	A	11: 106,140,572 (GRCm39)	T761I	probably damaging	Het
Gdi2	C	A	13: 3,606,395 (GRCm39)	T157N	probably benign	Het
Gm8122	C	A	14: 43,088,058 (GRCm39)		probably null	Het
Gtpbp10	T	C	5: 5,605,379 (GRCm39)	E108G	possibly damaging	Het
Hectd4	T	C	5: 121,448,726 (GRCm39)	L358P	probably damaging	Het
Herc3	T	C	6: 58,835,971 (GRCm39)	C271R	probably benign	Het
Hspb1	C	T	5: 135,918,187 (GRCm39)	T178M	possibly damaging	Het
Htr3b	C	T	9: 48,847,319 (GRCm39)	V399M	probably benign	Het
Hydin	A	G	8: 111,124,803 (GRCm39)		probably null	Het
Itpr3	T	A	17: 27,326,786 (GRCm39)		probably null	Het
Iyd	G	T	10: 3,495,638 (GRCm39)	V99F	possibly damaging	Het
Lrrc36	G	A	8: 106,178,900 (GRCm39)	G365D	probably damaging	Het
Map1b	T	A	13: 99,570,148 (GRCm39)	I858F	unknown	Het
Med12l	A	T	3: 59,165,746 (GRCm39)	D1488V	probably damaging	Het
Ms4a6c	T	A	19: 11,455,555 (GRCm39)	N121K	probably damaging	Het
Nlrp1b	T	G	11: 71,072,943 (GRCm39)	Q300P	probably benign	Het
Nlrp3	G	A	11: 59,438,912 (GRCm39)	R163H	probably damaging	Het
Nr4a3	T	G	4: 48,051,290 (GRCm39)	S15A	possibly damaging	Het
Optc	T	G	1: 133,825,617 (GRCm39)	D356A	probably damaging	Het
Or52h7	A	G	7: 104,213,857 (GRCm39)	H143R	probably benign	Het
Or9s15	T	C	1: 92,524,904 (GRCm39)	V221A	possibly damaging	Het
Pdzd2	C	G	15: 12,399,291 (GRCm39)	V812L	probably damaging	Het
Phlpp2	T	C	8: 110,655,278 (GRCm39)	F691S	probably damaging	Het
Pigk	T	C	3: 152,453,238 (GRCm39)	F319L	probably benign	Het
Pkhd1l1	A	G	15: 44,378,350 (GRCm39)	T1035A	probably damaging	Het
Plekhg3	A	G	12: 76,611,339 (GRCm39)	T261A	probably benign	Het
Plekhm1	A	G	11: 103,278,160 (GRCm39)	F312S	probably damaging	Het
Pms2	T	A	5: 143,862,654 (GRCm39)	I587N	probably benign	Het
Ppl	T	A	16: 4,922,593 (GRCm39)	H272L	probably damaging	Het
Prkce	G	A	17: 86,800,783 (GRCm39)	A400T	probably benign	Het
Ptpn9	T	C	9: 56,951,660 (GRCm39)	S324P	probably benign	Het
Ptprk	A	T	10: 28,468,834 (GRCm39)	N1432I	possibly damaging	Het
R3hdm2	T	C	10: 127,328,515 (GRCm39)	S746P	probably benign	Het
Rnf220	G	A	4: 117,135,015 (GRCm39)	A412V	probably damaging	Het
Scel	G	A	14: 103,781,315 (GRCm39)	A154T	probably benign	Het
Sirpb1a	A	T	3: 15,475,664 (GRCm39)	N290K	probably damaging	Het
Sirpb1c	A	T	3: 15,886,310 (GRCm39)		probably null	Het
Sorbs2	A	T	8: 46,248,860 (GRCm39)	R704*	probably null	Het
Spast	T	C	17: 74,680,319 (GRCm39)	V427A	probably damaging	Het
Stxbp4	A	T	11: 90,482,937 (GRCm39)		probably null	Het
Thsd7a	C	A	6: 12,352,067 (GRCm39)	G1043C		Het
Tmem205	C	T	9: 21,832,410 (GRCm39)	C167Y	probably damaging	Het
Trappc9	A	T	15: 72,608,718 (GRCm39)	L897*	probably null	Het
Trim36	A	G	18: 46,302,495 (GRCm39)	F518L	probably benign	Het
Ttc12	T	G	9: 49,359,267 (GRCm39)	T402P	possibly damaging	Het
Twnk	T	C	19: 44,998,600 (GRCm39)	V506A	possibly damaging	Het
Vmn2r18	A	T	5: 151,485,682 (GRCm39)	L604*	probably null	Het
Wdr83	T	C	8: 85,806,460 (GRCm39)	N113D	possibly damaging	Het
Zfp628	G	A	7: 4,924,817 (GRCm39)	G1013E	probably damaging	Het

Other mutations in Casp12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00667:Casp12	APN	9	5,352,665 (GRCm39)	splice site	probably null
IGL00717:Casp12	APN	9	5,352,702 (GRCm39)	missense	probably damaging	1.00
IGL02326:Casp12	APN	9	5,358,317 (GRCm39)	missense	possibly damaging	0.92
R0016:Casp12	UTSW	9	5,352,844 (GRCm39)	missense	probably null	0.01
R0016:Casp12	UTSW	9	5,352,844 (GRCm39)	missense	probably null	0.01
R0329:Casp12	UTSW	9	5,345,534 (GRCm39)	splice site	probably benign
R0392:Casp12	UTSW	9	5,348,973 (GRCm39)	splice site	probably benign
R0584:Casp12	UTSW	9	5,352,268 (GRCm39)	missense	probably null	0.00
R0609:Casp12	UTSW	9	5,346,554 (GRCm39)	missense	probably damaging	1.00
R1099:Casp12	UTSW	9	5,352,204 (GRCm39)	missense	probably benign
R1951:Casp12	UTSW	9	5,348,959 (GRCm39)	critical splice donor site	probably null
R2034:Casp12	UTSW	9	5,346,491 (GRCm39)	missense	probably damaging	0.97
R4208:Casp12	UTSW	9	5,346,629 (GRCm39)	missense	probably damaging	1.00
R4558:Casp12	UTSW	9	5,352,742 (GRCm39)	missense	probably damaging	1.00
R4592:Casp12	UTSW	9	5,352,923 (GRCm39)	intron	probably benign
R4597:Casp12	UTSW	9	5,348,941 (GRCm39)	missense	possibly damaging	0.55
R4913:Casp12	UTSW	9	5,358,726 (GRCm39)	missense	probably damaging	1.00
R4965:Casp12	UTSW	9	5,352,250 (GRCm39)	missense	probably benign	0.00
R5495:Casp12	UTSW	9	5,353,797 (GRCm39)	missense	possibly damaging	0.95
R5777:Casp12	UTSW	9	5,354,548 (GRCm39)	missense	probably benign	0.01
R6641:Casp12	UTSW	9	5,354,612 (GRCm39)	missense	probably benign
R7159:Casp12	UTSW	9	5,353,763 (GRCm39)	missense	possibly damaging	0.89
R7320:Casp12	UTSW	9	5,348,897 (GRCm39)	critical splice acceptor site	probably null
R7636:Casp12	UTSW	9	5,358,344 (GRCm39)	missense	probably benign	0.15
R7695:Casp12	UTSW	9	5,353,641 (GRCm39)	missense	probably damaging	0.99
R7819:Casp12	UTSW	9	5,352,805 (GRCm39)	missense	probably damaging	1.00
R8071:Casp12	UTSW	9	5,346,647 (GRCm39)	missense	probably damaging	1.00
R8417:Casp12	UTSW	9	5,352,263 (GRCm39)	missense	probably benign	0.00
R8503:Casp12	UTSW	9	5,346,739 (GRCm39)	splice site	probably benign
R8514:Casp12	UTSW	9	5,352,735 (GRCm39)	missense	probably damaging	1.00
R9573:Casp12	UTSW	9	5,354,629 (GRCm39)	missense	probably benign
Z1088:Casp12	UTSW	9	5,354,582 (GRCm39)	missense	possibly damaging	0.71

Predicted Primers

PCR Primer
(F):5'- TGCTTATAATAGCAGAGCCCTG -3'
(R):5'- AGGGGTCTAGAGAGATTCATTTTC -3'

Sequencing Primer
(F):5'- GCAGAGCCCTGGTTGACTTTC -3'
(R):5'- CTGTAAATGCTGAGGATAAATGCC -3'

Posted On

2019-09-13