Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02349:Capns2'

289424

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Capns2

Ensembl Gene

ENSMUSG00000078144

Gene Name

calpain, small subunit 2

Synonyms

30K-2, 2310005G05Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.234) question?

Stock #

IGL02349

Quality Score

Status

Chromosome

Chromosomal Location

93628035-93629039 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 93628690 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 193 (V193D)

Ref Sequence

ENSEMBL: ENSMUSP00000100553 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046290] [ENSMUST00000104947] [ENSMUST00000209265] [ENSMUST00000210099]

AlphaFold

Q9D7J7

Predicted Effect

probably benign
Transcript: ENSMUST00000046290

SMART Domains

Protein: ENSMUSP00000049252
Gene: ENSMUSG00000033192

Domain	Start	End	E-Value	Type
low complexity region	5	12	N/A	INTRINSIC
low complexity region	35	45	N/A	INTRINSIC
transmembrane domain	59	81	N/A	INTRINSIC
PlsC	140	251	2.78e-22	SMART
Blast:PlsC	284	326	3e-19	BLAST
EFh	395	423	4.49e-4	SMART
EFh	432	460	6.11e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000104947
AA Change: V193D

PolyPhen 2 Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000100553
Gene: ENSMUSG00000078144
AA Change: V193D

Domain	Start	End	E-Value	Type
low complexity region	14	43	N/A	INTRINSIC
low complexity region	68	77	N/A	INTRINSIC
EFh	122	150	5.69e0	SMART
EFh	152	180	1.3e1	SMART
EFh	217	244	9.89e1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151106

Predicted Effect

probably benign
Transcript: ENSMUST00000209265

Predicted Effect

probably benign
Transcript: ENSMUST00000210099

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb8	A	G	5: 24,611,462 (GRCm39)	I484V	probably benign	Het
Acly	C	T	11: 100,410,505 (GRCm39)	E158K	probably benign	Het
Akap3	T	A	6: 126,837,226 (GRCm39)	D3E	probably benign	Het
Alg8	A	G	7: 97,029,101 (GRCm39)	N152S	possibly damaging	Het
Ano7	A	G	1: 93,319,212 (GRCm39)	T323A	probably benign	Het
Bmp1	T	C	14: 70,744,989 (GRCm39)	Y252C	possibly damaging	Het
Cacnb3	A	T	15: 98,538,842 (GRCm39)	K159*	probably null	Het
Cct2	A	G	10: 116,889,044 (GRCm39)	I48T	probably benign	Het
Cep152	A	G	2: 125,436,876 (GRCm39)	S555P	probably damaging	Het
Col5a3	T	C	9: 20,683,657 (GRCm39)	E1533G	unknown	Het
Cyp17a1	A	G	19: 46,655,936 (GRCm39)	L451P	probably damaging	Het
Dgcr8	T	C	16: 18,098,170 (GRCm39)	E407G	possibly damaging	Het
Dhx57	T	A	17: 80,563,000 (GRCm39)	N876Y	probably damaging	Het
Dnah7b	T	A	1: 46,138,663 (GRCm39)	L235*	probably null	Het
Fgfr2	A	G	7: 129,844,336 (GRCm39)	Y50H	probably damaging	Het
Gars1	T	A	6: 55,025,049 (GRCm39)		probably benign	Het
Gfpt2	A	T	11: 49,698,530 (GRCm39)	I42F	probably benign	Het
Glcci1	A	G	6: 8,558,581 (GRCm39)	K35E	probably damaging	Het
Gpatch1	T	A	7: 35,006,680 (GRCm39)	M163L	probably damaging	Het
Gpr132	T	C	12: 112,816,475 (GRCm39)	Y117C	probably damaging	Het
Ints1	G	A	5: 139,754,223 (GRCm39)	P650S	probably damaging	Het
Itga2b	T	C	11: 102,352,189 (GRCm39)	D464G	probably damaging	Het
Kansl2	C	A	15: 98,427,327 (GRCm39)	G185C	probably damaging	Het
Kat6b	T	A	14: 21,687,661 (GRCm39)	M570K	probably damaging	Het
Macir	A	G	1: 97,573,777 (GRCm39)	L96P	probably damaging	Het
Map3k19	T	A	1: 127,751,506 (GRCm39)	D615V	possibly damaging	Het
Map3k7cl	A	G	16: 87,352,901 (GRCm39)		probably benign	Het
Msto1	A	C	3: 88,818,205 (GRCm39)	S360R	possibly damaging	Het
Myo15b	C	A	11: 115,753,931 (GRCm39)		probably benign	Het
Nhlrc2	T	C	19: 56,580,151 (GRCm39)	V428A	possibly damaging	Het
Or13a28	T	C	7: 140,218,384 (GRCm39)	F257L	probably benign	Het
Or1j19	A	C	2: 36,677,058 (GRCm39)	T174P	possibly damaging	Het
Or51a39	G	A	7: 102,363,333 (GRCm39)	R96C	probably damaging	Het
Or51f2	A	T	7: 102,527,116 (GRCm39)	Y263F	probably benign	Het
Or5p51	A	G	7: 107,444,812 (GRCm39)	S43P	probably benign	Het
Or8b12	T	A	9: 37,657,502 (GRCm39)	M24K	probably benign	Het
Pcm1	G	T	8: 41,741,192 (GRCm39)		probably null	Het
Plekhg3	A	T	12: 76,609,074 (GRCm39)	N149I	probably damaging	Het
Rbp3	C	A	14: 33,677,676 (GRCm39)	H541Q	probably damaging	Het
Rgp1	T	C	4: 43,581,236 (GRCm39)		probably null	Het
Scyl2	A	T	10: 89,493,800 (GRCm39)		probably benign	Het
Tas2r144	A	C	6: 42,193,010 (GRCm39)	H250P	probably benign	Het
Tmppe	T	C	9: 114,234,268 (GRCm39)	V189A	probably benign	Het
Trp53bp1	G	A	2: 121,029,555 (GRCm39)	S1875L	probably damaging	Het
Txnl4a	T	A	18: 80,261,944 (GRCm39)	L60H	probably damaging	Het
Upp2	A	G	2: 58,667,898 (GRCm39)	D217G	probably benign	Het
Vmn2r74	A	G	7: 85,601,724 (GRCm39)	L638P	probably damaging	Het
Vnn1	A	G	10: 23,774,401 (GRCm39)	N148S	possibly damaging	Het
Xrcc1	C	T	7: 24,266,467 (GRCm39)	Q241*	probably null	Het
Zfp990	A	G	4: 145,257,447 (GRCm39)		probably benign	Het

Other mutations in Capns2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01104:Capns2	APN	8	93,628,383 (GRCm39)	missense	probably damaging	1.00
IGL01567:Capns2	APN	8	93,628,634 (GRCm39)	missense	probably benign	0.01
IGL02377:Capns2	APN	8	93,628,215 (GRCm39)	missense	probably benign	0.15
IGL03244:Capns2	APN	8	93,628,738 (GRCm39)	missense	probably damaging	1.00
P0014:Capns2	UTSW	8	93,628,842 (GRCm39)	missense	probably damaging	1.00
R0539:Capns2	UTSW	8	93,628,360 (GRCm39)	missense	possibly damaging	0.78
R1560:Capns2	UTSW	8	93,628,771 (GRCm39)	missense	probably damaging	1.00
R4422:Capns2	UTSW	8	93,628,252 (GRCm39)	missense	possibly damaging	0.95
R4423:Capns2	UTSW	8	93,628,252 (GRCm39)	missense	possibly damaging	0.95
R4425:Capns2	UTSW	8	93,628,252 (GRCm39)	missense	possibly damaging	0.95
R4983:Capns2	UTSW	8	93,628,530 (GRCm39)	missense	probably damaging	1.00
R6898:Capns2	UTSW	8	93,628,605 (GRCm39)	missense	probably damaging	1.00
R9473:Capns2	UTSW	8	93,628,854 (GRCm39)	makesense	probably null

Posted On

2015-04-16