Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02416:Micu2'

292449

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Micu2

Ensembl Gene

ENSMUSG00000021973

Gene Name

mitochondrial calcium uptake 2

Synonyms

4833427E09Rik, 1110008L20Rik, Efha1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02416

Quality Score

Status

Chromosome

Chromosomal Location

58153718-58236716 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 58161422 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 300 (V300E)

Ref Sequence

ENSEMBL: ENSMUSP00000022543 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022543]

AlphaFold

Q8CD10

Predicted Effect

probably damaging
Transcript: ENSMUST00000022543
AA Change: V300E

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000022543
Gene: ENSMUSG00000021973
AA Change: V300E

Domain	Start	End	E-Value	Type
low complexity region	2	28	N/A	INTRINSIC
low complexity region	35	50	N/A	INTRINSIC
EFh	173	201	1.15e0	SMART
EFh	363	391	1.12e0	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224607

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225961

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit an enlarged heart left atrium along with delayed calcium reuptake and decreased relaxation rates by cardiomyocytes, and develop abdominal aortic aneurysms with spontaneous rupture following angiotensin II treatment. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamdec1	T	C	14: 68,810,282 (GRCm39)	N227S	probably null	Het
Adgrf5	T	G	17: 43,755,871 (GRCm39)		probably null	Het
Arid2	G	A	15: 96,247,936 (GRCm39)	G116D	possibly damaging	Het
Arsa	T	A	15: 89,358,991 (GRCm39)	H225L	probably damaging	Het
Atf6	T	A	1: 170,574,726 (GRCm39)	K571*	probably null	Het
Bicdl1	A	C	5: 115,801,944 (GRCm39)	L38R	probably damaging	Het
Cct4	T	C	11: 22,952,868 (GRCm39)	S515P	probably damaging	Het
Celsr3	A	C	9: 108,709,318 (GRCm39)	D1388A	probably damaging	Het
Clca3a2	T	C	3: 144,790,777 (GRCm39)	T432A	probably benign	Het
Des	T	A	1: 75,339,372 (GRCm39)		probably null	Het
Dock11	T	A	X: 35,283,739 (GRCm39)	V1119E	probably damaging	Het
Dysf	A	G	6: 84,169,896 (GRCm39)	N1763S	possibly damaging	Het
Emilin1	A	G	5: 31,075,132 (GRCm39)	S458G	possibly damaging	Het
Fhdc1	T	G	3: 84,352,535 (GRCm39)	M897L	probably benign	Het
Foxj1	T	C	11: 116,222,829 (GRCm39)	S325G	probably benign	Het
Gm5407	A	G	16: 49,117,250 (GRCm39)		noncoding transcript	Het
Gm6576	T	C	15: 27,026,073 (GRCm39)		noncoding transcript	Het
Hells	G	A	19: 38,953,071 (GRCm39)	S743N	probably benign	Het
Ighv2-9-1	A	T	12: 113,733,731 (GRCm39)	L30Q	probably damaging	Het
Iqgap1	A	T	7: 80,375,786 (GRCm39)	L1363H	probably damaging	Het
Lrp2	T	C	2: 69,299,977 (GRCm39)	D3025G	probably damaging	Het
Mef2d	C	T	3: 88,063,809 (GRCm39)	R79C	probably damaging	Het
Mical1	G	T	10: 41,360,806 (GRCm39)		probably null	Het
Mmgt2	T	C	11: 62,555,703 (GRCm39)	L17P	probably damaging	Het
Or4p21	A	G	2: 88,277,174 (GRCm39)	I36T	probably benign	Het
Or7c19	T	A	8: 85,957,662 (GRCm39)	C179*	probably null	Het
Or7e177	A	T	9: 20,211,541 (GRCm39)	E15V	probably benign	Het
Pigb	A	G	9: 72,924,714 (GRCm39)	S482P	probably benign	Het
Pkd1l2	T	A	8: 117,767,574 (GRCm39)	T1239S	possibly damaging	Het
Pou1f1	T	C	16: 65,328,842 (GRCm39)	I187T	probably damaging	Het
Prox1	C	T	1: 189,893,327 (GRCm39)	A373T	probably benign	Het
Rabgap1	T	C	2: 37,451,962 (GRCm39)	I954T	probably benign	Het
Scube3	T	G	17: 28,383,110 (GRCm39)	C429W	probably damaging	Het
Slco6b1	T	A	1: 96,852,058 (GRCm39)		noncoding transcript	Het
Strc	A	T	2: 121,199,539 (GRCm39)	I1300N	probably damaging	Het
Tdrd6	T	A	17: 43,935,629 (GRCm39)	R1806S	probably benign	Het
Trpm8	T	A	1: 88,288,438 (GRCm39)	L860Q	probably damaging	Het
Vmn1r8	A	G	6: 57,013,605 (GRCm39)	R219G	probably damaging	Het
Wdr48	A	G	9: 119,753,826 (GRCm39)	S649G	probably damaging	Het

Other mutations in Micu2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01305:Micu2	APN	14	58,181,082 (GRCm39)	missense	probably damaging	1.00
IGL02675:Micu2	APN	14	58,182,834 (GRCm39)	splice site	probably benign
IGL03343:Micu2	APN	14	58,154,768 (GRCm39)	missense	probably benign	0.01
ANU22:Micu2	UTSW	14	58,181,082 (GRCm39)	missense	probably damaging	1.00
R0238:Micu2	UTSW	14	58,154,835 (GRCm39)	splice site	probably benign
R0239:Micu2	UTSW	14	58,154,835 (GRCm39)	splice site	probably benign
R0488:Micu2	UTSW	14	58,169,699 (GRCm39)	missense	probably benign	0.00
R0564:Micu2	UTSW	14	58,156,831 (GRCm39)	missense	possibly damaging	0.82
R1116:Micu2	UTSW	14	58,191,657 (GRCm39)	missense	probably benign	0.00
R1471:Micu2	UTSW	14	58,182,854 (GRCm39)	missense	probably damaging	0.99
R2011:Micu2	UTSW	14	58,191,590 (GRCm39)	splice site	probably null
R4226:Micu2	UTSW	14	58,169,742 (GRCm39)	missense	possibly damaging	0.92
R5595:Micu2	UTSW	14	58,209,201 (GRCm39)	missense	probably damaging	1.00
R6583:Micu2	UTSW	14	58,181,127 (GRCm39)	missense	probably damaging	0.99
R6800:Micu2	UTSW	14	58,156,896 (GRCm39)	missense	possibly damaging	0.89
R7125:Micu2	UTSW	14	58,209,238 (GRCm39)	nonsense	probably null
R7205:Micu2	UTSW	14	58,191,606 (GRCm39)	missense	probably benign	0.42
R7383:Micu2	UTSW	14	58,154,810 (GRCm39)	missense	possibly damaging	0.63
R7852:Micu2	UTSW	14	58,169,710 (GRCm39)	missense	probably benign
R8677:Micu2	UTSW	14	58,161,420 (GRCm39)	missense	possibly damaging	0.83
R9029:Micu2	UTSW	14	58,156,363 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16