Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03246:Capn13'

414418

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Capn13

Ensembl Gene

ENSMUSG00000043705

Gene Name

calpain 13

Synonyms

LOC381122

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

IGL03246

Quality Score

Status

Chromosome

Chromosomal Location

73613451-73706376 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 73689855 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 52 (H52R)

Ref Sequence

ENSEMBL: ENSMUSP00000092832 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095208]

AlphaFold

Q3UW68

Predicted Effect

probably benign
Transcript: ENSMUST00000095208
AA Change: H52R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000092832
Gene: ENSMUSG00000043705
AA Change: H52R

Domain	Start	End	E-Value	Type
CysPc	12	337	3.23e-113	SMART
Pfam:Calpain_III	341	473	2e-13	PFAM
SCOP:d1k94a_	512	664	3e-8	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ubiquitous enzymes consist of heterodimers with distinct large, catalytic subunits associated with a common small, regulatory subunit. This gene encodes a member of the calpain large subunit family. [provided by RefSeq, Jun 2012]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921511C20Rik	T	A	X: 126,303,238 (GRCm39)	H392Q	probably benign	Het
Alox8	T	A	11: 69,076,841 (GRCm39)	I547L	probably damaging	Het
Cfap57	T	A	4: 118,433,842 (GRCm39)	I979L	probably benign	Het
Ctdnep1	T	C	11: 69,875,156 (GRCm39)		probably benign	Het
Ercc5	C	A	1: 44,206,241 (GRCm39)	P385T	probably damaging	Het
Fam98a	C	T	17: 75,845,848 (GRCm39)	M299I	probably damaging	Het
Flcn	A	T	11: 59,684,936 (GRCm39)	I505N	possibly damaging	Het
Fn1	G	A	1: 71,663,455 (GRCm39)	T1011I	possibly damaging	Het
Klhl28	T	C	12: 65,004,060 (GRCm39)	D151G	probably benign	Het
Klk13	T	A	7: 43,370,422 (GRCm39)	N28K	probably damaging	Het
Macc1	T	C	12: 119,410,420 (GRCm39)	V396A	probably benign	Het
Mageb11	C	A	X: 89,936,008 (GRCm39)	H87Q	probably benign	Het
Magi2	T	A	5: 20,563,948 (GRCm39)	I360K	probably damaging	Het
Myh7b	T	C	2: 155,459,792 (GRCm39)	I251T	probably damaging	Het
Naalad2	A	T	9: 18,296,395 (GRCm39)	I85K	possibly damaging	Het
Or5ae1	T	C	7: 84,565,919 (GRCm39)	C311R	probably benign	Het
Pbrm1	A	T	14: 30,832,506 (GRCm39)	M1490L	probably benign	Het
Pclo	C	T	5: 14,727,631 (GRCm39)		probably benign	Het
Pdcd6ip	T	C	9: 113,507,485 (GRCm39)	K357R	possibly damaging	Het
Pnpla6	C	T	8: 3,581,530 (GRCm39)	T601I	probably benign	Het
Pof1b	A	T	X: 111,557,817 (GRCm39)	N366K	probably benign	Het
Prr9	A	G	3: 92,030,286 (GRCm39)		probably benign	Het
Ptprz1	G	T	6: 22,986,159 (GRCm39)	A320S	probably damaging	Het
Ripor1	A	G	8: 106,342,490 (GRCm39)	Y187C	possibly damaging	Het
Rnf13	A	G	3: 57,676,471 (GRCm39)	E42G	probably damaging	Het
Sdf4	T	C	4: 156,085,154 (GRCm39)	V163A	probably benign	Het
Smc2	C	T	4: 52,440,301 (GRCm39)	Q16*	probably null	Het
Srsf3-ps	T	A	11: 98,516,119 (GRCm39)	R85*	probably null	Het
Tbck	T	A	3: 132,480,331 (GRCm39)	C737S	probably benign	Het
Tra2a	A	T	6: 49,226,019 (GRCm39)	Y140*	probably null	Het
Vcpip1	A	C	1: 9,816,182 (GRCm39)	L734V	probably benign	Het
Vmn1r87	G	A	7: 12,866,288 (GRCm39)		probably benign	Het

Other mutations in Capn13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00885:Capn13	APN	17	73,646,420 (GRCm39)	missense	possibly damaging	0.82
IGL01099:Capn13	APN	17	73,658,504 (GRCm39)	missense	probably damaging	0.99
IGL01613:Capn13	APN	17	73,638,053 (GRCm39)	missense	probably benign	0.07
IGL02215:Capn13	APN	17	73,637,993 (GRCm39)	missense	probably damaging	1.00
IGL02403:Capn13	APN	17	73,658,421 (GRCm39)	missense	possibly damaging	0.82
IGL02877:Capn13	APN	17	73,629,050 (GRCm39)	missense	probably damaging	0.97
IGL03113:Capn13	APN	17	73,638,108 (GRCm39)	missense	probably benign	0.00
IGL03369:Capn13	APN	17	73,648,149 (GRCm39)	splice site	probably benign
R0116:Capn13	UTSW	17	73,658,519 (GRCm39)	missense	probably damaging	1.00
R0729:Capn13	UTSW	17	73,629,064 (GRCm39)	missense	probably damaging	1.00
R0745:Capn13	UTSW	17	73,658,503 (GRCm39)	missense	probably benign	0.39
R0746:Capn13	UTSW	17	73,658,503 (GRCm39)	missense	probably benign	0.39
R0778:Capn13	UTSW	17	73,658,503 (GRCm39)	missense	probably benign	0.39
R1252:Capn13	UTSW	17	73,674,222 (GRCm39)	missense	possibly damaging	0.80
R1594:Capn13	UTSW	17	73,658,474 (GRCm39)	missense	probably benign	0.15
R1641:Capn13	UTSW	17	73,689,889 (GRCm39)	missense	possibly damaging	0.91
R1895:Capn13	UTSW	17	73,657,520 (GRCm39)	missense	possibly damaging	0.50
R1902:Capn13	UTSW	17	73,633,356 (GRCm39)	missense	probably damaging	1.00
R1946:Capn13	UTSW	17	73,657,520 (GRCm39)	missense	possibly damaging	0.50
R2184:Capn13	UTSW	17	73,672,943 (GRCm39)	missense	probably damaging	1.00
R2427:Capn13	UTSW	17	73,633,312 (GRCm39)	splice site	probably benign
R2963:Capn13	UTSW	17	73,622,258 (GRCm39)	critical splice donor site	probably null
R3755:Capn13	UTSW	17	73,638,114 (GRCm39)	nonsense	probably null
R3759:Capn13	UTSW	17	73,629,072 (GRCm39)	missense	probably benign	0.01
R3795:Capn13	UTSW	17	73,644,387 (GRCm39)	missense	probably benign	0.14
R3801:Capn13	UTSW	17	73,646,396 (GRCm39)	missense	probably benign	0.00
R3802:Capn13	UTSW	17	73,646,396 (GRCm39)	missense	probably benign	0.00
R3803:Capn13	UTSW	17	73,646,396 (GRCm39)	missense	probably benign	0.00
R3804:Capn13	UTSW	17	73,646,396 (GRCm39)	missense	probably benign	0.00
R4084:Capn13	UTSW	17	73,644,444 (GRCm39)	missense	probably benign	0.00
R4194:Capn13	UTSW	17	73,646,479 (GRCm39)	missense	possibly damaging	0.48
R4326:Capn13	UTSW	17	73,638,103 (GRCm39)	missense	probably benign
R4788:Capn13	UTSW	17	73,644,427 (GRCm39)	nonsense	probably null
R4852:Capn13	UTSW	17	73,658,501 (GRCm39)	frame shift	probably null
R4853:Capn13	UTSW	17	73,658,501 (GRCm39)	frame shift	probably null
R4855:Capn13	UTSW	17	73,658,501 (GRCm39)	frame shift	probably null
R5063:Capn13	UTSW	17	73,629,074 (GRCm39)	nonsense	probably null
R5112:Capn13	UTSW	17	73,658,501 (GRCm39)	frame shift	probably null
R5438:Capn13	UTSW	17	73,633,479 (GRCm39)	missense	probably benign
R5955:Capn13	UTSW	17	73,637,997 (GRCm39)	missense	possibly damaging	0.92
R6408:Capn13	UTSW	17	73,672,954 (GRCm39)	nonsense	probably null
R6512:Capn13	UTSW	17	73,689,985 (GRCm39)	missense	probably benign	0.44
R7425:Capn13	UTSW	17	73,625,053 (GRCm39)	missense	probably benign	0.13
R7605:Capn13	UTSW	17	73,652,132 (GRCm39)	critical splice donor site	probably null
R7678:Capn13	UTSW	17	73,622,300 (GRCm39)	missense	probably damaging	1.00
R7776:Capn13	UTSW	17	73,629,049 (GRCm39)	missense	probably benign	0.07
R7791:Capn13	UTSW	17	73,689,883 (GRCm39)	missense	possibly damaging	0.88
R8087:Capn13	UTSW	17	73,623,279 (GRCm39)	missense	probably damaging	1.00
R8090:Capn13	UTSW	17	73,689,849 (GRCm39)	missense	probably benign	0.07
R8122:Capn13	UTSW	17	73,674,205 (GRCm39)	missense	probably damaging	1.00
R8169:Capn13	UTSW	17	73,633,467 (GRCm39)	splice site	probably null
R8927:Capn13	UTSW	17	73,631,761 (GRCm39)	splice site	probably null
R9193:Capn13	UTSW	17	73,652,191 (GRCm39)	missense	probably damaging	1.00
R9299:Capn13	UTSW	17	73,633,467 (GRCm39)	splice site	probably null
R9337:Capn13	UTSW	17	73,633,467 (GRCm39)	splice site	probably null
R9497:Capn13	UTSW	17	73,633,362 (GRCm39)	missense	probably benign	0.08
R9509:Capn13	UTSW	17	73,644,446 (GRCm39)	missense	probably benign	0.10
R9616:Capn13	UTSW	17	73,672,964 (GRCm39)	missense	probably benign	0.40
Z1176:Capn13	UTSW	17	73,648,105 (GRCm39)	missense	probably benign	0.00

Posted On

2016-08-02