Mutagenetix > Incidental Mutation

Incidental Mutation 'R2495:Capn11'

251021

Institutional Source

Beutler Lab

Gene Symbol

Capn11

Ensembl Gene

ENSMUSG00000058626

Gene Name

calpain 11

Synonyms

MMRRC Submission

040409-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2495 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

45630204-45659325 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 45638763 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 426 (M426L)

Ref Sequence

ENSEMBL: ENSMUSP00000113132 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000120717] [ENSMUST00000151350]

AlphaFold

Q6J756

Predicted Effect

probably damaging
Transcript: ENSMUST00000120717
AA Change: M426L

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113132
Gene: ENSMUSG00000058626
AA Change: M426L

Domain	Start	End	E-Value	Type
CysPc	37	362	2.75e-157	SMART
calpain_III	366	523	2.57e-84	SMART
EFh	590	618	3.91e-4	SMART
EFh	620	648	6.88e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000151350

SMART Domains

Protein: ENSMUSP00000119679
Gene: ENSMUSG00000058626

Domain	Start	End	E-Value	Type
Pfam:Peptidase_C2	94	153	1.5e-14	PFAM
low complexity region	163	174	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

98% (63/64)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Calpains constitute a family of intracellular calcium-dependent cysteine proteases. There are eight members in this superfamily. They consist of a variable 80 kDa subunit and an invariant 30 kDa subunit. This calpain protein appears to have protease activity and calcium-binding ability. A similar mouse protein may play a functional role in spermatogenesis and in the regulation of calcium-dependent signal transduction events during meiosis. [provided by RefSeq, Dec 2008]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810062G17Rik	T	C	3: 36,481,960 (GRCm38)	F125S	unknown	Het
Abhd17c	C	T	7: 84,110,676 (GRCm38)	W290*	probably null	Het
Acsl5	A	T	19: 55,293,599 (GRCm38)	K536*	probably null	Het
Adamts14	A	T	10: 61,198,970 (GRCm38)		probably null	Het
Agbl3	A	G	6: 34,846,764 (GRCm38)	H788R	probably damaging	Het
Agrp	T	C	8: 105,566,776 (GRCm38)	N126D	possibly damaging	Het
Ambn	T	C	5: 88,467,804 (GRCm38)	I349T	probably benign	Het
Ank1	T	C	8: 23,132,264 (GRCm38)	W1610R	probably damaging	Het
Aox3	T	C	1: 58,188,408 (GRCm38)	L1224P	probably damaging	Het
Arhgef28	A	T	13: 98,029,373 (GRCm38)		probably benign	Het
Bcl11b	G	A	12: 107,915,447 (GRCm38)	H798Y	possibly damaging	Het
Cep95	A	G	11: 106,809,282 (GRCm38)	K290E	possibly damaging	Het
Cic	A	G	7: 25,291,776 (GRCm38)		probably benign	Het
Cnbd1	A	T	4: 18,860,579 (GRCm38)	M389K	probably damaging	Het
Cnksr1	A	T	4: 134,232,162 (GRCm38)	L387Q	probably benign	Het
Cntrob	G	T	11: 69,322,923 (GRCm38)	P14T	probably damaging	Het
Crmp1	G	A	5: 37,246,097 (GRCm38)		probably null	Het
Dido1	A	G	2: 180,689,388 (GRCm38)	V89A	probably benign	Het
Dnah7a	T	A	1: 53,605,881 (GRCm38)	I999F	probably damaging	Het
Dsp	T	A	13: 38,193,477 (GRCm38)	L1746Q	possibly damaging	Het
Dst	T	C	1: 34,199,373 (GRCm38)	S3897P	probably damaging	Het
Fbxo10	A	G	4: 45,040,545 (GRCm38)	F887L	probably benign	Het
Gm21961	T	A	15: 65,014,873 (GRCm38)	H11L	unknown	Het
Gm4559	A	T	7: 142,273,820 (GRCm38)	C182S	unknown	Het
Gm5724	C	A	6: 141,765,777 (GRCm38)	M69I	probably benign	Het
Golga3	T	A	5: 110,207,596 (GRCm38)	S939T	probably damaging	Het
Got2	A	G	8: 95,888,290 (GRCm38)	S6P	possibly damaging	Het
Gpatch8	A	T	11: 102,478,481 (GRCm38)	H1410Q	probably damaging	Het
Gpx5	T	A	13: 21,291,440 (GRCm38)	T39S	probably benign	Het
Grin2b	T	C	6: 135,733,182 (GRCm38)	Y1122C	probably damaging	Het
Gsn	A	C	2: 35,303,193 (GRCm38)	N538T	probably damaging	Het
Helz2	A	G	2: 181,232,912 (GRCm38)	S1930P	probably damaging	Het
Krt6b	A	T	15: 101,678,322 (GRCm38)	F286Y	probably damaging	Het
Lrriq1	G	A	10: 103,202,381 (GRCm38)	R854C	probably damaging	Het
Mipol1	A	T	12: 57,460,990 (GRCm38)		probably benign	Het
Mmp19	A	G	10: 128,790,950 (GRCm38)		probably benign	Het
Msc	T	G	1: 14,755,249 (GRCm38)	Y167S	probably benign	Het
Mycbp2	T	G	14: 103,200,118 (GRCm38)	K2103Q	probably damaging	Het
Myh11	C	A	16: 14,205,557 (GRCm38)	D1586Y	probably damaging	Het
Nol6	A	T	4: 41,118,427 (GRCm38)	D791E	probably damaging	Het
Pcm1	A	G	8: 41,293,579 (GRCm38)	T1272A	probably benign	Het
Phgdh	A	G	3: 98,339,789 (GRCm38)	L15P	probably damaging	Het
Ptprk	A	T	10: 28,475,078 (GRCm38)		probably benign	Het
Ralgapa2	G	T	2: 146,361,400 (GRCm38)	D1091E	possibly damaging	Het
Rbbp8nl	C	A	2: 180,279,102 (GRCm38)	K496N	probably null	Het
Rbm26	T	C	14: 105,151,312 (GRCm38)		probably benign	Het
Rfx6	A	C	10: 51,726,675 (GRCm38)		probably benign	Het
Rras	G	A	7: 45,018,064 (GRCm38)	G17R	probably damaging	Het
Shisa6	G	A	11: 66,217,633 (GRCm38)	P473S	probably damaging	Het
Slc9a3	A	G	13: 74,158,703 (GRCm38)	K316E	probably damaging	Het
Spata31d1a	A	G	13: 59,701,993 (GRCm38)	S774P	possibly damaging	Het
Spsb4	T	C	9: 96,995,787 (GRCm38)	Y161C	probably damaging	Het
Taf3	G	T	2: 9,952,833 (GRCm38)	N174K	probably damaging	Het
Tectb	C	G	19: 55,180,999 (GRCm38)		probably benign	Het
Trnt1	T	A	6: 106,773,369 (GRCm38)	V78E	possibly damaging	Het
Ubox5	A	T	2: 130,599,521 (GRCm38)	C415*	probably null	Het
Ucn2	C	T	9: 108,986,409 (GRCm38)	P80S	possibly damaging	Het
Vmn2r10	G	A	5: 108,996,095 (GRCm38)	T663I	probably damaging	Het
Wdfy1	A	T	1: 79,707,505 (GRCm38)	F337L	probably null	Het
Zfp287	A	T	11: 62,714,633 (GRCm38)	C483S	probably damaging	Het
Zyg11b	A	G	4: 108,244,724 (GRCm38)		probably null	Het

Other mutations in Capn11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00339:Capn11	APN	17	45,643,767 (GRCm38)	missense	probably damaging	1.00
IGL01116:Capn11	APN	17	45,638,880 (GRCm38)	unclassified	probably benign
IGL01121:Capn11	APN	17	45,639,132 (GRCm38)	missense	probably benign	0.04
IGL01366:Capn11	APN	17	45,653,200 (GRCm38)	missense	probably damaging	1.00
IGL01533:Capn11	APN	17	45,632,904 (GRCm38)	missense	probably benign
IGL01595:Capn11	APN	17	45,639,434 (GRCm38)	missense	probably benign	0.02
IGL02197:Capn11	APN	17	45,639,856 (GRCm38)	missense	probably benign	0.14
IGL02683:Capn11	APN	17	45,653,591 (GRCm38)	missense	probably damaging	1.00
IGL02696:Capn11	APN	17	45,632,709 (GRCm38)	missense	probably damaging	1.00
IGL02711:Capn11	APN	17	45,632,415 (GRCm38)	missense	probably damaging	1.00
IGL02900:Capn11	APN	17	45,630,614 (GRCm38)	splice site	probably null
IGL03033:Capn11	APN	17	45,642,547 (GRCm38)	missense	probably damaging	1.00
R0883:Capn11	UTSW	17	45,638,881 (GRCm38)	unclassified	probably benign
R1494:Capn11	UTSW	17	45,643,809 (GRCm38)	missense	probably damaging	1.00
R1735:Capn11	UTSW	17	45,632,401 (GRCm38)	nonsense	probably null
R1785:Capn11	UTSW	17	45,638,697 (GRCm38)	missense	probably benign	0.02
R1952:Capn11	UTSW	17	45,642,959 (GRCm38)	missense	probably damaging	1.00
R2149:Capn11	UTSW	17	45,633,107 (GRCm38)	critical splice acceptor site	probably null
R2397:Capn11	UTSW	17	45,653,221 (GRCm38)	missense	probably damaging	1.00
R2516:Capn11	UTSW	17	45,633,799 (GRCm38)	missense	probably damaging	0.98
R3934:Capn11	UTSW	17	45,634,287 (GRCm38)	splice site	probably benign
R4016:Capn11	UTSW	17	45,653,756 (GRCm38)	missense	probably damaging	1.00
R4226:Capn11	UTSW	17	45,642,466 (GRCm38)	critical splice donor site	probably null
R4227:Capn11	UTSW	17	45,642,466 (GRCm38)	critical splice donor site	probably null
R4774:Capn11	UTSW	17	45,633,080 (GRCm38)	missense	probably benign	0.00
R4892:Capn11	UTSW	17	45,633,097 (GRCm38)	frame shift	probably null
R5244:Capn11	UTSW	17	45,633,892 (GRCm38)	missense	probably damaging	1.00
R5667:Capn11	UTSW	17	45,639,674 (GRCm38)	missense	possibly damaging	0.87
R5671:Capn11	UTSW	17	45,639,674 (GRCm38)	missense	possibly damaging	0.87
R5991:Capn11	UTSW	17	45,659,352 (GRCm38)	splice site	probably null
R6180:Capn11	UTSW	17	45,630,766 (GRCm38)	missense	probably damaging	1.00
R6193:Capn11	UTSW	17	45,653,504 (GRCm38)	critical splice donor site	probably null
R6774:Capn11	UTSW	17	45,657,330 (GRCm38)	intron	probably benign
R7047:Capn11	UTSW	17	45,638,696 (GRCm38)	nonsense	probably null
R7302:Capn11	UTSW	17	45,643,812 (GRCm38)	missense	probably damaging	1.00
R7516:Capn11	UTSW	17	45,638,840 (GRCm38)	missense	possibly damaging	0.95
R7563:Capn11	UTSW	17	45,633,965 (GRCm38)	missense	probably damaging	0.99
R7718:Capn11	UTSW	17	45,643,781 (GRCm38)	missense	probably damaging	1.00
R7999:Capn11	UTSW	17	45,639,206 (GRCm38)	missense	probably damaging	1.00
R8058:Capn11	UTSW	17	45,643,755 (GRCm38)	missense	probably null	1.00
R8194:Capn11	UTSW	17	45,633,399 (GRCm38)	missense	probably damaging	0.96
R8737:Capn11	UTSW	17	45,632,875 (GRCm38)	missense	probably benign	0.01
R8989:Capn11	UTSW	17	45,643,857 (GRCm38)	missense	probably damaging	1.00
R9037:Capn11	UTSW	17	45,639,431 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCCTGGTGTATATGGCAAAAG -3'
(R):5'- AATGGCTGGAATCTCAGGGC -3'

Sequencing Primer
(F):5'- CCTGGTGTATATGGCAAAAGAAGAG -3'
(R):5'- CTTGACCTGGATCTTCCA -3'

Posted On

2014-12-04