Mutagenetix > Incidental Mutation

Incidental Mutation 'R8058:Capn11'

619572

Institutional Source

Beutler Lab

Gene Symbol

Capn11

Ensembl Gene

ENSMUSG00000058626

Gene Name

calpain 11

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8058 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

45630204-45659325 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 45643755 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 152 (Q152R)

Ref Sequence

ENSEMBL: ENSMUSP00000113132 (fasta)

Gene Model

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

AlphaFold

Q6J756

Predicted Effect

probably null
Transcript: ENSMUST00000120717
AA Change: Q152R

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

SMART Domains

Protein: ENSMUSP00000113132
Gene: ENSMUSG00000058626
AA Change: Q152R

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

unknown
Transcript: ENSMUST00000151350
AA Change: S167G

SMART Domains

Protein: ENSMUSP00000119679
Gene: ENSMUSG00000058626
AA Change: S167G

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: 99.6%
20x: 98.8%

Validation Efficiency

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	C	T	4: 53,081,954	D769N	possibly damaging	Het
Abcb6	A	G	1: 75,180,009	L37P	possibly damaging	Het
Abcg1	G	T	17: 31,105,530	A250S	probably benign	Het
Acsf3	C	T	8: 122,813,634	H524Y	possibly damaging	Het
Agbl4	A	G	4: 110,660,842	K110R	unknown	Het
Arfgap2	G	A	2: 91,266,299		probably null	Het
B4galt4	T	C	16: 38,766,021		probably null	Het
Bex6	G	T	16: 32,186,406	D11Y	probably damaging	Het
Bhlhe40	TG	TGG	6: 108,664,857	254	probably null	Het
C8b	A	T	4: 104,790,614	D334V	probably damaging	Het
Ccdc171	C	A	4: 83,580,766	Q234K	probably damaging	Het
Clec2h	A	G	6: 128,674,003	D82G	probably benign	Het
Creld2	A	G	15: 88,826,429	D349G	probably damaging	Het
D430041D05Rik	A	G	2: 104,148,783	*1415Q	probably null	Het
D430042O09Rik	A	G	7: 125,843,016	E725G	probably benign	Het
Dnmt3a	T	C	12: 3,902,768	V755A	possibly damaging	Het
Doc2a	G	T	7: 126,850,992	V201L	probably benign	Het
Fan1	T	A	7: 64,372,486	N340Y	probably damaging	Het
Fbn1	G	T	2: 125,351,969	D1359E	possibly damaging	Het
Fcnb	T	C	2: 28,079,695	Y120C	probably damaging	Het
Fras1	T	A	5: 96,694,919	D1665E	probably benign	Het
Fry	A	T	5: 150,495,767	D524V		Het
Garem1	A	G	18: 21,148,564	L245P	probably damaging	Het
Gdf6	A	G	4: 9,859,712	S265G	probably benign	Het
Gm5591	T	C	7: 38,518,939	I837V	probably benign	Het
Gpr61	T	C	3: 108,150,895	Y150C	probably damaging	Het
Grin2b	A	T	6: 135,733,227	L1107Q	probably damaging	Het
Helb	A	G	10: 120,105,578	S402P	probably benign	Het
Htt	A	G	5: 34,820,100	T777A	probably benign	Het
Iffo2	A	G	4: 139,613,853	D383G	probably benign	Het
Ikzf3	G	T	11: 98,516,927	Y29*	probably null	Het
Ints2	A	T	11: 86,255,353	M143K	probably benign	Het
Jmjd1c	T	C	10: 67,254,495	V2292A	not run	Het
Lamb1	C	A	12: 31,303,047	Q916K	probably benign	Het
Lrrtm4	G	A	6: 80,022,545	M313I	probably benign	Het
Lum	A	G	10: 97,568,563	I107V	probably benign	Het
Ly6h	T	C	15: 75,565,212	E126G	probably benign	Het
Map3k5	G	A	10: 20,132,114	V1230M	probably damaging	Het
Mcoln1	T	C	8: 3,508,378	F211L	probably benign	Het
Mink1	G	A	11: 70,603,768	W258*	probably null	Het
Muc16	G	T	9: 18,660,002	S407*	probably null	Het
Ngef	G	A	1: 87,546,022	Q13*	probably null	Het
Nxpe5	T	A	5: 138,239,311	Y44*	probably null	Het
Olfr1094	A	G	2: 86,829,708	R319G	probably benign	Het
Olfr1098	C	A	2: 86,922,807	A242S	probably benign	Het
Olfr1250	A	G	2: 89,657,327	V38A	probably benign	Het
Olfr18	T	A	9: 20,314,180	I247F	probably damaging	Het
Olfr270	T	A	4: 52,971,106	L162M	probably benign	Het
Olfr938	A	T	9: 39,078,566	Y60N	probably damaging	Het
Orc3	C	A	4: 34,595,223	E249*	probably null	Het
Otogl	A	T	10: 107,762,426	C2288S	probably damaging	Het
Pde1b	A	G	15: 103,524,811	E249G	probably damaging	Het
Phf2	T	C	13: 48,823,082	E219G	unknown	Het
Rbm19	T	A	5: 120,140,375		probably null	Het
Rcc2	G	A	4: 140,702,275	C40Y	probably benign	Het
Sbk2	A	G	7: 4,957,290	Y294H	possibly damaging	Het
Selenoo	T	C	15: 89,092,739	I198T	possibly damaging	Het
Sema3f	T	C	9: 107,682,601	E729G	probably benign	Het
Serpinb1b	A	T	13: 33,085,310	T9S	probably benign	Het
Sfxn4	T	C	19: 60,844,252	T235A	probably damaging	Het
Shc4	A	T	2: 125,649,234	Y461*	probably null	Het
Slc22a15	T	C	3: 101,864,610	D391G	probably benign	Het
Slc22a23	G	T	13: 34,305,184	Y239*	probably null	Het
Slc24a2	G	A	4: 86,991,513	A656V	probably damaging	Het
Slc2a5	A	T	4: 150,143,133	I470F	probably damaging	Het
Sptbn4	T	C	7: 27,364,269	E2249G	possibly damaging	Het
Tas2r139	A	T	6: 42,141,819	Q295L	probably benign	Het
Tdrd7	C	A	4: 46,034,309	S1051R	probably benign	Het
Tmem2	C	A	19: 21,852,331	A1268E	probably benign	Het
Tnfrsf18	G	A	4: 156,028,345	A163T	probably benign	Het
Ube3b	T	C	5: 114,406,785	V596A	possibly damaging	Het
Vmn2r10	T	A	5: 109,002,089	N363I	probably benign	Het
Vmn2r15	T	A	5: 109,293,090	I301F	probably damaging	Het
Yod1	C	T	1: 130,719,069	Q228*	probably null	Het
Zfp433	A	T	10: 81,720,290	K209*	probably null	Het
Zfp865	G	A	7: 5,030,446	V477I	probably benign	Het
Zfp937	T	A	2: 150,239,501	Y484N	probably benign	Het
Zfp951	T	G	5: 104,814,446	H418P	probably damaging	Het

Other mutations in Capn11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00339:Capn11	APN	17	45643767	missense	probably damaging	1.00
IGL01116:Capn11	APN	17	45638880	unclassified	probably benign
IGL01121:Capn11	APN	17	45639132	missense	probably benign	0.04
IGL01366:Capn11	APN	17	45653200	missense	probably damaging	1.00
IGL01533:Capn11	APN	17	45632904	missense	probably benign
IGL01595:Capn11	APN	17	45639434	missense	probably benign	0.02
IGL02197:Capn11	APN	17	45639856	missense	probably benign	0.14
IGL02683:Capn11	APN	17	45653591	missense	probably damaging	1.00
IGL02696:Capn11	APN	17	45632709	missense	probably damaging	1.00
IGL02711:Capn11	APN	17	45632415	missense	probably damaging	1.00
IGL02900:Capn11	APN	17	45630614	splice site	probably null
IGL03033:Capn11	APN	17	45642547	missense	probably damaging	1.00
R0883:Capn11	UTSW	17	45638881	unclassified	probably benign
R1494:Capn11	UTSW	17	45643809	missense	probably damaging	1.00
R1735:Capn11	UTSW	17	45632401	nonsense	probably null
R1785:Capn11	UTSW	17	45638697	missense	probably benign	0.02
R1952:Capn11	UTSW	17	45642959	missense	probably damaging	1.00
R2149:Capn11	UTSW	17	45633107	critical splice acceptor site	probably null
R2397:Capn11	UTSW	17	45653221	missense	probably damaging	1.00
R2495:Capn11	UTSW	17	45638763	missense	probably damaging	0.97
R2516:Capn11	UTSW	17	45633799	missense	probably damaging	0.98
R3934:Capn11	UTSW	17	45634287	splice site	probably benign
R4016:Capn11	UTSW	17	45653756	missense	probably damaging	1.00
R4226:Capn11	UTSW	17	45642466	critical splice donor site	probably null
R4227:Capn11	UTSW	17	45642466	critical splice donor site	probably null
R4774:Capn11	UTSW	17	45633080	missense	probably benign	0.00
R4892:Capn11	UTSW	17	45633097	frame shift	probably null
R5244:Capn11	UTSW	17	45633892	missense	probably damaging	1.00
R5667:Capn11	UTSW	17	45639674	missense	possibly damaging	0.87
R5671:Capn11	UTSW	17	45639674	missense	possibly damaging	0.87
R5991:Capn11	UTSW	17	45659352	splice site	probably null
R6180:Capn11	UTSW	17	45630766	missense	probably damaging	1.00
R6193:Capn11	UTSW	17	45653504	critical splice donor site	probably null
R6774:Capn11	UTSW	17	45657330	intron	probably benign
R7047:Capn11	UTSW	17	45638696	nonsense	probably null
R7302:Capn11	UTSW	17	45643812	missense	probably damaging	1.00
R7516:Capn11	UTSW	17	45638840	missense	possibly damaging	0.95
R7563:Capn11	UTSW	17	45633965	missense	probably damaging	0.99
R7718:Capn11	UTSW	17	45643781	missense	probably damaging	1.00
R7999:Capn11	UTSW	17	45639206	missense	probably damaging	1.00
R8194:Capn11	UTSW	17	45633399	missense	probably damaging	0.96
R8737:Capn11	UTSW	17	45632875	missense	probably benign	0.01
R8989:Capn11	UTSW	17	45643857	missense	probably damaging	1.00
R9037:Capn11	UTSW	17	45639431	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGCCTAATGCGCATTTGTGG -3'
(R):5'- CCTGGTTTGTGACTCCCTTGAG -3'

Sequencing Primer
(F):5'- CATTTGTGGATGCAGGCAC -3'
(R):5'- TTGAGTCTGGGACCTCCACAC -3'

Posted On

2020-01-23