Mutagenetix > Incidental Mutation

Incidental Mutation 'R8514:Casp12'

656037

Institutional Source

Beutler Lab

Gene Symbol

Casp12

Ensembl Gene

ENSMUSG00000025887

Gene Name

caspase 12

Synonyms

MMRRC Submission

067945-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8514 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

5345430-5373032 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 5352735 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 186 (F186L)

Ref Sequence

ENSEMBL: ENSMUSP00000027009 (fasta)

Gene Model

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

AlphaFold

O08736

Predicted Effect

probably damaging
Transcript: ENSMUST00000027009
AA Change: F186L

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

SMART Domains

Protein: ENSMUSP00000027009
Gene: ENSMUSG00000025887
AA Change: F186L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000151332
AA Change: F116L

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

SMART Domains

Protein: ENSMUSP00000122201
Gene: ENSMUSG00000025887
AA Change: F116L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000151788
AA Change: F186L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000121565
Gene: ENSMUSG00000025887
AA Change: F186L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

96% (49/51)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bcam	A	G	7: 19,492,466 (GRCm39)	V543A	probably damaging	Het
Calhm6	G	A	10: 34,002,399 (GRCm39)	T228I	possibly damaging	Het
Capn1	T	C	19: 6,047,854 (GRCm39)	E403G	probably damaging	Het
Ccdc40	A	G	11: 119,121,459 (GRCm39)	Q13R	unknown	Het
Cip2a	T	C	16: 48,817,810 (GRCm39)	V60A	possibly damaging	Het
Ckap2l	G	T	2: 129,127,788 (GRCm39)	A130E	possibly damaging	Het
Creld1	C	T	6: 113,469,830 (GRCm39)	R411C	probably damaging	Het
Dock9	A	T	14: 121,896,199 (GRCm39)	S167T	probably benign	Het
Emc10	G	T	7: 44,142,646 (GRCm39)	Q99K	probably damaging	Het
Fryl	T	A	5: 73,242,699 (GRCm39)	I1287L	probably benign	Het
Gjc3	T	A	5: 137,955,772 (GRCm39)	Y171F	probably damaging	Het
Glrp1	GTGCTGCTGCTGCTGCTG	GTGCTGCTGCTGCTG	1: 88,431,042 (GRCm39)		probably benign	Het
Golga4	T	C	9: 118,384,864 (GRCm39)	V662A	possibly damaging	Het
Gpr33	A	G	12: 52,070,181 (GRCm39)	V286A	probably benign	Het
Htr1d	A	G	4: 136,170,650 (GRCm39)	E293G	probably damaging	Het
Ints6	A	G	14: 62,933,166 (GRCm39)	V847A	possibly damaging	Het
Iqsec3	A	G	6: 121,390,521 (GRCm39)	C317R	unknown	Het
Mdn1	T	A	4: 32,739,857 (GRCm39)	Y3704N	probably damaging	Het
Micall2	C	A	5: 139,701,977 (GRCm39)	R422L	probably damaging	Het
Mndal	T	C	1: 173,687,758 (GRCm39)	D492G	possibly damaging	Het
Myom2	C	T	8: 15,175,153 (GRCm39)	P1244L	possibly damaging	Het
Notch1	A	G	2: 26,362,181 (GRCm39)	C1025R	probably damaging	Het
Nthl1	G	A	17: 24,853,089 (GRCm39)	V98M	probably damaging	Het
Or12e10	A	T	2: 87,641,054 (GRCm39)	I297F	probably damaging	Het
Or4a15	T	C	2: 89,193,573 (GRCm39)	I67V	probably benign	Het
Pank3	A	G	11: 35,667,186 (GRCm39)	D101G	probably null	Het
Phtf2	T	C	5: 21,007,030 (GRCm39)	R178G	possibly damaging	Het
Pitrm1	T	C	13: 6,618,822 (GRCm39)		probably null	Het
Platr25	T	C	13: 62,848,586 (GRCm39)	Y92C	probably damaging	Het
Plpp1	A	T	13: 112,971,462 (GRCm39)	D43V	probably damaging	Het
Prg4	G	A	1: 150,330,396 (GRCm39)	T759I	unknown	Het
Pros1	A	G	16: 62,730,472 (GRCm39)	T321A	probably benign	Het
Rad50	G	A	11: 53,569,766 (GRCm39)	Q882*	probably null	Het
Rasa3	A	C	8: 13,631,322 (GRCm39)	F533V	probably benign	Het
Rgs18	T	A	1: 144,629,765 (GRCm39)	I165F	probably damaging	Het
Rtl1	C	T	12: 109,560,307 (GRCm39)	V511I	possibly damaging	Het
Sdc3	A	G	4: 130,546,072 (GRCm39)	T144A	unknown	Het
Slc9a9	T	C	9: 94,818,418 (GRCm39)	F271L	probably benign	Het
Snrpa1	G	A	7: 65,720,381 (GRCm39)	G195R	probably benign	Het
Spata31e5	C	T	1: 28,817,586 (GRCm39)	V149M	probably damaging	Het
Tcerg1	T	A	18: 42,697,187 (GRCm39)	D759E	probably damaging	Het
Tecta	A	G	9: 42,284,406 (GRCm39)	L893P	probably damaging	Het
Tex101	T	A	7: 24,367,957 (GRCm39)	Q167L	possibly damaging	Het
Tnrc6a	C	T	7: 122,783,438 (GRCm39)	R970*	probably null	Het
Trmt1l	T	C	1: 151,329,742 (GRCm39)	S562P	probably damaging	Het
Tut4	T	A	4: 108,414,554 (GRCm39)	W44R	possibly damaging	Het
Ubn1	A	G	16: 4,891,263 (GRCm39)	E546G	probably damaging	Het
Usp38	T	A	8: 81,712,346 (GRCm39)	Q563L	probably benign	Het
Vmn1r1	C	T	1: 181,985,138 (GRCm39)	V176I	probably benign	Het
Vmn2r1	A	G	3: 63,993,942 (GRCm39)	K96R	probably benign	Het
Vmn2r62	A	G	7: 42,413,992 (GRCm39)	V817A	probably benign	Het
Wdfy3	A	T	5: 101,999,219 (GRCm39)	C3066S	possibly damaging	Het
Yeats4	T	C	10: 117,051,660 (GRCm39)	E199G	possibly 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
R7349:Casp12	UTSW	9	5,345,527 (GRCm39)	critical splice donor 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
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'- CAGGCCCCAATATATGTTTTCAG -3'
(R):5'- TGTTGCTACCCAAAGAGAGTTTG -3'

Sequencing Primer
(F):5'- TCTATCATTTCATCAGCAGAGCACAG -3'
(R):5'- TTTGACAAAAGGACAAAGAAGGTTGC -3'

Posted On

2020-10-20