Mutagenetix > Incidental Mutation

Incidental Mutation 'R0488:Micu2'

42430

Institutional Source

Beutler Lab

Gene Symbol

Micu2

Ensembl Gene

ENSMUSG00000021973

Gene Name

mitochondrial calcium uptake 2

Synonyms

4833427E09Rik, 1110008L20Rik, Efha1

MMRRC Submission

038687-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0488 (G1)

Quality Score

162

Status

Validated

Chromosome

Chromosomal Location

58153718-58236716 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58169699 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 217 (Y217C)

Ref Sequence

ENSEMBL: ENSMUSP00000022543 (fasta)

Gene Model

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

AlphaFold

Q8CD10

Predicted Effect

probably benign
Transcript: ENSMUST00000022543
AA Change: Y217C

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000022543
Gene: ENSMUSG00000021973
AA Change: Y217C

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: ENSMUST00000224984

Meta Mutation Damage Score

0.0595

Coding Region Coverage

1x: 99.7%
3x: 98.9%
10x: 97.0%
20x: 94.2%

Validation Efficiency

100% (54/54)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam19	T	G	11: 46,029,757 (GRCm39)	L734R	probably damaging	Het
Adgrf1	T	C	17: 43,621,302 (GRCm39)	I513T	probably damaging	Het
Adgrl2	A	G	3: 148,552,541 (GRCm39)	V654A	probably damaging	Het
Agl	A	T	3: 116,548,611 (GRCm39)	Y1249*	probably null	Het
Ankar	T	A	1: 72,697,891 (GRCm39)	Q996H	probably damaging	Het
Aqp12	T	C	1: 92,936,378 (GRCm39)	Y235H	probably damaging	Het
Arsb	T	C	13: 94,077,013 (GRCm39)	V460A	probably benign	Het
Baiap3	A	G	17: 25,467,444 (GRCm39)		probably null	Het
Cd44	T	C	2: 102,664,564 (GRCm39)		probably benign	Het
Clec4b1	T	A	6: 123,048,441 (GRCm39)	I192N	probably damaging	Het
Cplane2	A	G	4: 140,941,712 (GRCm39)	D14G	probably benign	Het
Cps1	A	C	1: 67,187,967 (GRCm39)		probably benign	Het
Dab2	T	C	15: 6,454,135 (GRCm39)	L215S	probably damaging	Het
E2f4	G	A	8: 106,025,171 (GRCm39)	V84I	probably damaging	Het
Edem2	T	C	2: 155,558,043 (GRCm39)	T197A	probably damaging	Het
Eno2	T	A	6: 124,740,837 (GRCm39)	M121L	probably benign	Het
Ephb1	A	G	9: 101,841,207 (GRCm39)	V757A	probably damaging	Het
Etv5	T	A	16: 22,231,695 (GRCm39)	I106F	probably damaging	Het
Foxj3	T	A	4: 119,477,187 (GRCm39)	Y298*	probably null	Het
Gm12185	A	G	11: 48,798,666 (GRCm39)	L609S	probably damaging	Het
Gm5884	T	C	6: 128,623,031 (GRCm39)		noncoding transcript	Het
Havcr1	A	G	11: 46,643,398 (GRCm39)	Y106C	probably damaging	Het
Jmjd1c	A	G	10: 67,076,506 (GRCm39)	N2110S	probably damaging	Het
Kif2b	T	C	11: 91,467,798 (GRCm39)	K162E	probably benign	Het
Mink1	G	T	11: 70,488,030 (GRCm39)	G32C	probably damaging	Het
Mnat1	T	A	12: 73,217,413 (GRCm39)	N96K	probably damaging	Het
Mpp2	G	T	11: 101,952,427 (GRCm39)	R349S	possibly damaging	Het
Mrpl13	T	A	15: 55,402,544 (GRCm39)	I59F	probably benign	Het
Mybl2	T	C	2: 162,914,534 (GRCm39)		probably benign	Het
Otogl	T	C	10: 107,639,466 (GRCm39)	E1382G	probably benign	Het
Pclo	A	G	5: 14,719,313 (GRCm39)	E1150G	unknown	Het
Pkd1l3	C	G	8: 110,350,281 (GRCm39)	D375E	possibly damaging	Het
Pkd1l3	G	A	8: 110,350,295 (GRCm39)	S380N	probably benign	Het
Pla2g4a	G	A	1: 149,747,196 (GRCm39)	T322M	probably damaging	Het
Pramel11	A	T	4: 143,621,973 (GRCm39)	Y461N	probably benign	Het
Prpsap2	A	G	11: 61,631,826 (GRCm39)	I177T	possibly damaging	Het
Ptprg	A	T	14: 12,220,653 (GRCm38)	D455V	probably damaging	Het
Ptprt	T	C	2: 161,395,745 (GRCm39)	T1162A	probably damaging	Het
Rad51ap1	T	C	6: 126,911,723 (GRCm39)	N55D	possibly damaging	Het
Rc3h2	T	C	2: 37,279,600 (GRCm39)	E543G	probably damaging	Het
Rimklb	G	A	6: 122,437,934 (GRCm39)	T103I	probably benign	Het
Samd4b	T	C	7: 28,113,662 (GRCm39)	Y101C	probably damaging	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Tubgcp5	T	A	7: 55,479,086 (GRCm39)	S979T	probably damaging	Het
Vmn2r93	G	A	17: 18,546,311 (GRCm39)	E728K	probably damaging	Het
Wdr17	T	C	8: 55,146,087 (GRCm39)		probably benign	Het
Wdr90	T	C	17: 26,067,591 (GRCm39)	Y1457C	probably damaging	Het
Wsb1	T	C	11: 79,135,326 (GRCm39)	D225G	probably damaging	Het
Xirp2	T	C	2: 67,345,165 (GRCm39)	S2469P	possibly damaging	Het
Zeb1	T	A	18: 5,772,455 (GRCm39)	C915S	probably damaging	Het
Znfx1	C	A	2: 166,884,483 (GRCm39)	R923L	possibly 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
R0239:Micu2	UTSW	14	58,154,835 (GRCm39)	splice site	probably benign
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'- CCAGTGCCCGACAAATTAAGAATGTG -3'
(R):5'- TGTAGTCTTGTCCAGTCAGCCCAC -3'

Sequencing Primer
(F):5'- cctgacagaggatcgctac -3'
(R):5'- CAGACAACTAGCAGATGTCCTG -3'

Posted On

2013-05-23