Mutagenetix > Incidental Mutation

Incidental Mutation 'R8989:Capn11'

684314

Institutional Source

Beutler Lab

Gene Symbol

Capn11

Ensembl Gene

ENSMUSG00000058626

Gene Name

calpain 11

Synonyms

MMRRC Submission

068821-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8989 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45941130-45970251 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45954783 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 118 (L118P)

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: L118P

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

SMART Domains

Protein: ENSMUSP00000113132
Gene: ENSMUSG00000058626
AA Change: L118P

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: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (62/62)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	G	13: 77,760,724 (GRCm39)	I1260M	probably benign	Het
A1cf	T	A	19: 31,904,556 (GRCm39)	F273Y	possibly damaging	Het
A3galt2	T	C	4: 128,655,231 (GRCm39)	W45R	probably damaging	Het
Adam23	A	G	1: 63,588,948 (GRCm39)	E460G	probably damaging	Het
Ago1	T	A	4: 126,357,583 (GRCm39)	T31S	probably benign	Het
Ago3	T	A	4: 126,298,191 (GRCm39)	T110S	probably damaging	Het
Akap6	T	C	12: 52,927,654 (GRCm39)	F188S	probably damaging	Het
Asic2	G	A	11: 81,043,180 (GRCm39)	P38S	probably benign	Het
Astn2	A	T	4: 65,499,890 (GRCm39)	C1000S	possibly damaging	Het
Atp10b	T	A	11: 43,136,269 (GRCm39)	C1132*	probably null	Het
Atp7b	A	T	8: 22,510,911 (GRCm39)	S527T	probably benign	Het
Bod1l	G	A	5: 41,979,025 (GRCm39)	T763I	probably benign	Het
Col13a1	T	C	10: 61,696,250 (GRCm39)	E589G	unknown	Het
Col6a2	T	C	10: 76,440,015 (GRCm39)	D630G	probably damaging	Het
Ctnnd2	G	A	15: 30,669,660 (GRCm39)	R423H	probably damaging	Het
Dld	G	A	12: 31,383,458 (GRCm39)	T447I	probably damaging	Het
Eif4g3	T	C	4: 137,912,059 (GRCm39)	L1227S	probably damaging	Het
Elac1	C	A	18: 73,880,310 (GRCm39)	E29*	probably null	Het
Entrep1	T	A	19: 23,962,196 (GRCm39)	Q269L	probably damaging	Het
Ephb6	C	T	6: 41,590,293 (GRCm39)	A15V	probably benign	Het
Fancc	G	T	13: 63,548,090 (GRCm39)	L70M	possibly damaging	Het
Fgd6	T	A	10: 93,959,425 (GRCm39)	M1041K	probably damaging	Het
Fn1	A	G	1: 71,663,446 (GRCm39)	V1014A	possibly damaging	Het
Galnt1	C	T	18: 24,402,567 (GRCm39)	T308I	possibly damaging	Het
Garre1	T	C	7: 33,956,869 (GRCm39)	Q332R	probably damaging	Het
Gpr63	T	A	4: 25,007,357 (GRCm39)	V27D	possibly damaging	Het
Hcfc2	T	C	10: 82,536,822 (GRCm39)	V78A	probably damaging	Het
Hexd	T	A	11: 121,109,136 (GRCm39)		probably benign	Het
Hipk1	T	C	3: 103,668,960 (GRCm39)	T479A	possibly damaging	Het
Hkdc1	T	C	10: 62,229,544 (GRCm39)	D711G	probably damaging	Het
Ifna16	A	T	4: 88,594,912 (GRCm39)	F61Y	probably damaging	Het
Insrr	T	A	3: 87,722,664 (GRCm39)	N1295K	probably damaging	Het
Kif5b	T	A	18: 6,209,021 (GRCm39)	R914W	probably damaging	Het
Lpo	T	C	11: 87,708,660 (GRCm39)	T113A	probably benign	Het
Mmp21	T	C	7: 133,276,746 (GRCm39)	D419G	probably damaging	Het
Naf1	A	G	8: 67,313,628 (GRCm39)	T204A	possibly damaging	Het
Nsmce4a	T	C	7: 130,141,587 (GRCm39)	T201A	probably benign	Het
Nup160	T	A	2: 90,548,208 (GRCm39)	N980K	probably damaging	Het
Odad2	T	C	18: 7,268,464 (GRCm39)	K352E	probably benign	Het
Or13c7d	T	C	4: 43,770,346 (GRCm39)	I222V	possibly damaging	Het
Or14j2	A	T	17: 37,885,542 (GRCm39)	F257L	probably benign	Het
Or2d3c	T	A	7: 106,526,366 (GRCm39)	Q100L	probably damaging	Het
Pcdhb19	A	G	18: 37,631,476 (GRCm39)	T424A	probably benign	Het
Pclo	C	T	5: 14,719,325 (GRCm39)	A1154V	unknown	Het
Pramel28	C	A	4: 143,691,770 (GRCm39)	A318S	probably benign	Het
Psma8	T	A	18: 14,890,404 (GRCm39)	D181E	probably benign	Het
Rhpn2	C	A	7: 35,053,446 (GRCm39)		probably benign	Het
Serpinb6e	G	T	13: 34,022,967 (GRCm39)	H139N	possibly damaging	Het
Slc26a7	T	A	4: 14,533,642 (GRCm39)	I394F	probably damaging	Het
Spmip5	T	C	19: 58,776,153 (GRCm39)	E100G	probably damaging	Het
Stxbp5l	ATTTT	ATTTTT	16: 37,036,414 (GRCm39)		probably null	Het
Taok3	T	C	5: 117,379,227 (GRCm39)	S421P	probably benign	Het
Tas2r143	T	G	6: 42,377,828 (GRCm39)	D219E	probably damaging	Het
Tcaf1	G	A	6: 42,663,707 (GRCm39)	R58C	probably damaging	Het
Tenm3	A	T	8: 48,688,383 (GRCm39)	Y2401*	probably null	Het
Tut1	T	C	19: 8,937,116 (GRCm39)	V200A	possibly damaging	Het
Unc5c	T	A	3: 141,509,467 (GRCm39)		probably benign	Het
Vmn2r28	T	G	7: 5,493,473 (GRCm39)	I158L	probably benign	Het
Vmn2r72	T	A	7: 85,404,134 (GRCm39)	H19L	probably benign	Het
Xpo4	A	G	14: 57,828,475 (GRCm39)	M795T	probably benign	Het
Zc3h12a	C	A	4: 125,014,743 (GRCm39)	R247L	probably damaging	Het
Zfp521	C	A	18: 13,979,137 (GRCm39)	L425F	probably damaging	Het

Other mutations in Capn11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00339:Capn11	APN	17	45,954,693 (GRCm39)	missense	probably damaging	1.00
IGL01116:Capn11	APN	17	45,949,806 (GRCm39)	unclassified	probably benign
IGL01121:Capn11	APN	17	45,950,058 (GRCm39)	missense	probably benign	0.04
IGL01366:Capn11	APN	17	45,964,126 (GRCm39)	missense	probably damaging	1.00
IGL01533:Capn11	APN	17	45,943,830 (GRCm39)	missense	probably benign
IGL01595:Capn11	APN	17	45,950,360 (GRCm39)	missense	probably benign	0.02
IGL02197:Capn11	APN	17	45,950,782 (GRCm39)	missense	probably benign	0.14
IGL02683:Capn11	APN	17	45,964,517 (GRCm39)	missense	probably damaging	1.00
IGL02696:Capn11	APN	17	45,943,635 (GRCm39)	missense	probably damaging	1.00
IGL02711:Capn11	APN	17	45,943,341 (GRCm39)	missense	probably damaging	1.00
IGL02900:Capn11	APN	17	45,941,540 (GRCm39)	splice site	probably null
IGL03033:Capn11	APN	17	45,953,473 (GRCm39)	missense	probably damaging	1.00
R0883:Capn11	UTSW	17	45,949,807 (GRCm39)	unclassified	probably benign
R1494:Capn11	UTSW	17	45,954,735 (GRCm39)	missense	probably damaging	1.00
R1735:Capn11	UTSW	17	45,943,327 (GRCm39)	nonsense	probably null
R1785:Capn11	UTSW	17	45,949,623 (GRCm39)	missense	probably benign	0.02
R1952:Capn11	UTSW	17	45,953,885 (GRCm39)	missense	probably damaging	1.00
R2149:Capn11	UTSW	17	45,944,033 (GRCm39)	critical splice acceptor site	probably null
R2397:Capn11	UTSW	17	45,964,147 (GRCm39)	missense	probably damaging	1.00
R2495:Capn11	UTSW	17	45,949,689 (GRCm39)	missense	probably damaging	0.97
R2516:Capn11	UTSW	17	45,944,725 (GRCm39)	missense	probably damaging	0.98
R3934:Capn11	UTSW	17	45,945,213 (GRCm39)	splice site	probably benign
R4016:Capn11	UTSW	17	45,964,682 (GRCm39)	missense	probably damaging	1.00
R4226:Capn11	UTSW	17	45,953,392 (GRCm39)	critical splice donor site	probably null
R4227:Capn11	UTSW	17	45,953,392 (GRCm39)	critical splice donor site	probably null
R4774:Capn11	UTSW	17	45,944,006 (GRCm39)	missense	probably benign	0.00
R4892:Capn11	UTSW	17	45,944,023 (GRCm39)	frame shift	probably null
R5244:Capn11	UTSW	17	45,944,818 (GRCm39)	missense	probably damaging	1.00
R5667:Capn11	UTSW	17	45,950,600 (GRCm39)	missense	possibly damaging	0.87
R5671:Capn11	UTSW	17	45,950,600 (GRCm39)	missense	possibly damaging	0.87
R5991:Capn11	UTSW	17	45,970,278 (GRCm39)	splice site	probably null
R6180:Capn11	UTSW	17	45,941,692 (GRCm39)	missense	probably damaging	1.00
R6193:Capn11	UTSW	17	45,964,430 (GRCm39)	critical splice donor site	probably null
R6774:Capn11	UTSW	17	45,968,256 (GRCm39)	intron	probably benign
R7047:Capn11	UTSW	17	45,949,622 (GRCm39)	nonsense	probably null
R7302:Capn11	UTSW	17	45,954,738 (GRCm39)	missense	probably damaging	1.00
R7516:Capn11	UTSW	17	45,949,766 (GRCm39)	missense	possibly damaging	0.95
R7563:Capn11	UTSW	17	45,944,891 (GRCm39)	missense	probably damaging	0.99
R7718:Capn11	UTSW	17	45,954,707 (GRCm39)	missense	probably damaging	1.00
R7999:Capn11	UTSW	17	45,950,132 (GRCm39)	missense	probably damaging	1.00
R8058:Capn11	UTSW	17	45,954,681 (GRCm39)	missense	probably null	1.00
R8194:Capn11	UTSW	17	45,944,325 (GRCm39)	missense	probably damaging	0.96
R8737:Capn11	UTSW	17	45,943,801 (GRCm39)	missense	probably benign	0.01
R9037:Capn11	UTSW	17	45,950,357 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TTGTGGATGCAGGCACATGG -3'
(R):5'- TTCAACAGATAGGAGCCTGTC -3'

Sequencing Primer
(F):5'- GATGCAGGCACATGGACCAC -3'
(R):5'- TCCAAACCAAAGCGTGTC -3'

Posted On

2021-10-11