Mutagenetix > Incidental Mutation

Incidental Mutation 'R0239:Micu2'

59256

Institutional Source

Beutler Lab

Gene Symbol

Micu2

Ensembl Gene

ENSMUSG00000021973

Gene Name

mitochondrial calcium uptake 2

Synonyms

4833427E09Rik, 1110008L20Rik, Efha1

MMRRC Submission

038477-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0239 (G1)

Quality Score

190

Status

Validated

Chromosome

Chromosomal Location

58153718-58236716 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 58154835 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000022543 (fasta)

Gene Model

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

AlphaFold

Q8CD10

Predicted Effect

probably benign
Transcript: ENSMUST00000022543

SMART Domains

Protein: ENSMUSP00000022543
Gene: ENSMUSG00000021973

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: ENSMUST00000225961

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.9%
20x: 96.2%

Validation Efficiency

98% (81/83)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adra1d	C	A	2: 131,388,134 (GRCm39)	V474F	probably benign	Het
Alg8	A	T	7: 97,032,891 (GRCm39)		probably null	Het
Ash1l	A	G	3: 88,974,529 (GRCm39)	D2618G	possibly damaging	Het
Atp6v1c2	C	A	12: 17,344,676 (GRCm39)		probably null	Het
Cacna1d	A	G	14: 29,845,453 (GRCm39)	V572A	probably benign	Het
Camta1	A	G	4: 151,228,187 (GRCm39)	W882R	probably damaging	Het
Cd72	A	G	4: 43,453,163 (GRCm39)	V91A	probably benign	Het
Cdh12	T	C	15: 21,586,493 (GRCm39)	W771R	probably damaging	Het
Cdx2	G	T	5: 147,240,097 (GRCm39)	T193K	probably damaging	Het
Cfap70	A	C	14: 20,498,673 (GRCm39)	S5A	probably benign	Het
Chmp7	A	G	14: 69,958,446 (GRCm39)	V241A	probably damaging	Het
Col4a1	C	T	8: 11,268,780 (GRCm39)		probably benign	Het
D3Ertd751e	A	G	3: 41,708,313 (GRCm39)	Y150C	probably damaging	Het
Depdc5	T	C	5: 33,100,584 (GRCm39)	S832P	probably damaging	Het
Dnhd1	A	G	7: 105,370,738 (GRCm39)	S4673G	probably benign	Het
Dock4	G	T	12: 40,787,539 (GRCm39)	S818I	probably damaging	Het
Dysf	C	T	6: 84,041,461 (GRCm39)	Q156*	probably null	Het
Elp1	C	A	4: 56,784,596 (GRCm39)	V466L	probably benign	Het
Espnl	T	C	1: 91,250,009 (GRCm39)	V52A	probably damaging	Het
Flcn	T	C	11: 59,691,902 (GRCm39)	N249S	probably benign	Het
Gemin6	C	A	17: 80,533,139 (GRCm39)	A24D	probably damaging	Het
Gm5773	A	G	3: 93,681,339 (GRCm39)	H337R	probably benign	Het
Greb1l	C	T	18: 10,458,567 (GRCm39)		probably benign	Het
Hal	T	C	10: 93,339,344 (GRCm39)	S478P	possibly damaging	Het
Hectd1	T	A	12: 51,816,101 (GRCm39)	M1324L	possibly damaging	Het
Hyal5	T	A	6: 24,876,343 (GRCm39)	L72Q	probably damaging	Het
Ift140	C	A	17: 25,264,497 (GRCm39)	C557*	probably null	Het
Il4ra	T	C	7: 125,174,371 (GRCm39)		probably benign	Het
Ipo9	A	G	1: 135,332,074 (GRCm39)		probably benign	Het
Irag2	G	A	6: 145,117,704 (GRCm39)		probably benign	Het
Kbtbd3	G	T	9: 4,330,144 (GRCm39)	V173L	possibly damaging	Het
Kif14	A	G	1: 136,455,131 (GRCm39)	E1551G	probably damaging	Het
Klc1	A	G	12: 111,751,758 (GRCm39)		probably benign	Het
Krt17	G	A	11: 100,151,704 (GRCm39)	R30*	probably null	Het
Lamb3	A	T	1: 193,003,361 (GRCm39)	D100V	probably damaging	Het
Map2	A	G	1: 66,455,265 (GRCm39)	D1385G	probably damaging	Het
Mettl25	C	T	10: 105,662,386 (GRCm39)	V195I	probably damaging	Het
Mrrf	T	C	2: 36,067,293 (GRCm39)		probably benign	Het
Myh8	A	G	11: 67,192,518 (GRCm39)	T1466A	probably benign	Het
Myo3b	T	A	2: 69,935,769 (GRCm39)	C61S	probably benign	Het
Nacc2	T	G	2: 25,952,273 (GRCm39)	N361T	probably damaging	Het
Nf1	A	T	11: 79,309,400 (GRCm39)	K438M	possibly damaging	Het
Nipal4	A	G	11: 46,041,268 (GRCm39)	V309A	possibly damaging	Het
Nomo1	T	C	7: 45,729,018 (GRCm39)		probably null	Het
Nubp2	T	C	17: 25,103,445 (GRCm39)	E144G	probably damaging	Het
Nwd2	A	T	5: 63,957,467 (GRCm39)	I266F	probably benign	Het
Or12e7	T	C	2: 87,288,381 (GRCm39)	F291L	probably benign	Het
Or2ag1b	A	G	7: 106,288,462 (GRCm39)	Y159H	probably benign	Het
Or52s1	G	A	7: 102,861,933 (GRCm39)	V289M	possibly damaging	Het
Orc1	T	C	4: 108,452,843 (GRCm39)		probably null	Het
Otogl	T	A	10: 107,642,557 (GRCm39)	N1291I	probably damaging	Het
Pah	C	T	10: 87,403,143 (GRCm39)	P173S	possibly damaging	Het
Pga5	A	G	19: 10,646,817 (GRCm39)	Y305H	probably damaging	Het
Plekha4	A	G	7: 45,181,782 (GRCm39)	H62R	probably damaging	Het
Plxnd1	G	T	6: 115,945,754 (GRCm39)	D906E	probably benign	Het
Ppfia4	T	C	1: 134,256,927 (GRCm39)	E98G	possibly damaging	Het
Ptk2	A	T	15: 73,215,132 (GRCm39)		probably null	Het
Pzp	C	T	6: 128,466,119 (GRCm39)		probably benign	Het
Raet1c	C	A	10: 22,056,761 (GRCm39)	H112Q	possibly damaging	Het
Scai	T	A	2: 38,965,054 (GRCm39)	I597F	probably benign	Het
Scgb1b2	T	A	7: 30,991,155 (GRCm39)		probably benign	Het
Sec31b	G	A	19: 44,513,908 (GRCm39)		probably benign	Het
Sirpd	A	G	3: 15,361,661 (GRCm39)	L163P	probably damaging	Het
Slc35c2	C	T	2: 165,122,757 (GRCm39)	G176S	probably damaging	Het
Slc35f4	A	T	14: 49,541,713 (GRCm39)	I347N	possibly damaging	Het
Slc49a3	G	T	5: 108,591,882 (GRCm39)		probably benign	Het
Slc52a3	T	C	2: 151,850,076 (GRCm39)	*461Q	probably null	Het
Slc6a1	G	A	6: 114,279,761 (GRCm39)	V142I	probably benign	Het
Tbc1d31	C	A	15: 57,804,149 (GRCm39)	T388N	probably benign	Het
Tmem131	T	C	1: 36,867,131 (GRCm39)		probably benign	Het
Tmem63c	T	C	12: 87,122,413 (GRCm39)	W404R	probably damaging	Het
Tmem79	A	G	3: 88,240,628 (GRCm39)	S107P	probably benign	Het
Trip11	C	T	12: 101,850,987 (GRCm39)	E741K	probably damaging	Het
Trpm5	G	T	7: 142,636,695 (GRCm39)	T414N	probably damaging	Het
Tsnaxip1	T	A	8: 106,571,120 (GRCm39)	I660N	possibly damaging	Het
Ube2q2	T	C	9: 55,070,291 (GRCm39)	S78P	probably damaging	Het
Vac14	A	T	8: 111,362,007 (GRCm39)		probably null	Het
Vps51	G	T	19: 6,121,467 (GRCm39)	S185*	probably null	Het
Zfp11	C	T	5: 129,735,302 (GRCm39)	G53E	possibly damaging	Het
Zfp532	A	T	18: 65,816,056 (GRCm39)	I810F	possibly damaging	Het
Zfp599	C	T	9: 22,161,055 (GRCm39)	C370Y	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
IGL02416:Micu2	APN	14	58,161,422 (GRCm39)	missense	probably damaging	0.99
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
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

Predicted Primers

PCR Primer
(F):5'- CTGCAAGTATTCCCTAAGCTATCACGG -3'
(R):5'- AATTCCCACAGCACATGTAATCTGAGG -3'

Sequencing Primer
(F):5'- catggtagacagagagaaccag -3'
(R):5'- GCACATGTAATCTGAGGGAAATTAG -3'

Posted On

2013-07-11