Mutagenetix > Incidental Mutation

Incidental Mutation 'R7125:Micu2'

552285

Institutional Source

Beutler Lab

Gene Symbol

Micu2

Ensembl Gene

ENSMUSG00000021973

Gene Name

mitochondrial calcium uptake 2

Synonyms

4833427E09Rik, 1110008L20Rik, Efha1

MMRRC Submission

045327-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7125 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58153718-58236716 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 58209238 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 73 (Y73*)

Ref Sequence

ENSEMBL: ENSMUSP00000022543 (fasta)

Gene Model

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

AlphaFold

Q8CD10

Predicted Effect

probably null
Transcript: ENSMUST00000022543
AA Change: Y73*

SMART Domains

Protein: ENSMUSP00000022543
Gene: ENSMUSG00000021973
AA Change: Y73*

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

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

96% (48/50)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730455P16Rik	A	T	11: 80,255,751 (GRCm39)	C296S	probably damaging	Het
Ago3	T	C	4: 126,264,145 (GRCm39)	I354V	probably null	Het
Aldh1l1	G	A	6: 90,553,761 (GRCm39)		probably null	Het
Ankrd49	TAA	TA	9: 14,693,836 (GRCm39)		probably null	Het
B3gnt7	A	G	1: 86,233,099 (GRCm39)	Y115C	probably damaging	Het
Cacna1h	A	T	17: 25,602,510 (GRCm39)	M1506K	probably damaging	Het
Cars1	T	C	7: 143,138,510 (GRCm39)	T226A	probably benign	Het
Ccdc28b	T	A	4: 129,514,885 (GRCm39)	T75S	probably benign	Het
Cdc42bpg	A	G	19: 6,372,321 (GRCm39)	I1436V	probably damaging	Het
Cep152	A	T	2: 125,408,593 (GRCm39)	Y1320*	probably null	Het
Cntnap2	A	T	6: 46,965,580 (GRCm39)	Y797F	probably benign	Het
Coq8a	T	A	1: 179,996,366 (GRCm39)	N490I	probably damaging	Het
Csmd2	T	C	4: 128,389,955 (GRCm39)	L2230P		Het
Cyp4a14	A	T	4: 115,348,358 (GRCm39)	I373N	probably damaging	Het
Ddx1	A	G	12: 13,293,864 (GRCm39)	S86P	probably benign	Het
Dennd3	A	T	15: 73,405,140 (GRCm39)	I298F	possibly damaging	Het
Disp1	C	A	1: 182,869,030 (GRCm39)	R1130L	probably damaging	Het
Dnah2	T	C	11: 69,327,008 (GRCm39)	T3533A	probably damaging	Het
Fam53b	T	C	7: 132,373,357 (GRCm39)	H27R	probably damaging	Het
Firrm	T	C	1: 163,789,631 (GRCm39)	T635A	probably benign	Het
Fyb1	G	A	15: 6,674,337 (GRCm39)	E658K	possibly damaging	Het
Gapvd1	T	C	2: 34,585,612 (GRCm39)	S996G	probably benign	Het
Gm47959	G	A	1: 82,978,503 (GRCm39)	G57S	unknown	Het
Golgb1	T	A	16: 36,738,325 (GRCm39)	H2262Q	possibly damaging	Het
Gpam	T	C	19: 55,064,767 (GRCm39)	T646A	probably benign	Het
Gpt2	G	A	8: 86,244,681 (GRCm39)	E325K	probably benign	Het
Hexd	C	T	11: 121,095,496 (GRCm39)		probably benign	Het
N4bp2l2	T	C	5: 150,573,894 (GRCm39)		probably null	Het
Or11h7	T	C	14: 50,891,041 (GRCm39)	C116R	possibly damaging	Het
Or1e31	T	C	11: 73,689,990 (GRCm39)	M198V	probably benign	Het
Or1m1	A	T	9: 18,666,174 (GRCm39)	Y252*	probably null	Het
Or51t4	T	C	7: 102,598,386 (GRCm39)	V238A	probably damaging	Het
Or5b112	A	T	19: 13,319,103 (GRCm39)		probably null	Het
P3r3urf	A	G	4: 116,030,667 (GRCm39)	M24V	probably benign	Het
Prkca	A	G	11: 107,874,848 (GRCm39)	Y365H	probably damaging	Het
Ptpre	C	T	7: 135,255,744 (GRCm39)	R155*	probably null	Het
Ryr2	T	A	13: 11,684,873 (GRCm39)	N3023Y	probably damaging	Het
S100a7a	A	G	3: 90,562,822 (GRCm39)	D3G	probably benign	Het
Scn2a	T	C	2: 65,594,277 (GRCm39)	F1709L	probably damaging	Het
Slc15a2	T	C	16: 36,602,660 (GRCm39)	E67G	probably damaging	Het
Slc25a22	A	G	7: 141,011,655 (GRCm39)	L195P	probably damaging	Het
Sp140	TTTTTTTTTTTTT	TTTTTTTTTTTTTTTTTT	1: 85,572,290 (GRCm39)		probably benign	Het
Stim1	T	A	7: 102,084,741 (GRCm39)	H564Q	possibly damaging	Het
Sulf2	C	T	2: 165,917,448 (GRCm39)	W855*	probably null	Het
Tenm3	T	C	8: 49,127,588 (GRCm39)	N30S	probably benign	Het
Trim59	T	C	3: 68,944,197 (GRCm39)	D381G	probably benign	Het
Ttc21b	T	C	2: 66,066,670 (GRCm39)	T328A	probably benign	Het
Ttc6	C	G	12: 57,623,125 (GRCm39)	Q175E	probably benign	Het
Vmn2r44	T	C	7: 8,370,941 (GRCm39)	I702V	probably damaging	Het
Zfp768	A	T	7: 126,943,959 (GRCm39)	F59L	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
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
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'- TCCCAACCCTCATGTTTAAGATTTG -3'
(R):5'- TGTGAATGCCATTCTTGCAC -3'

Sequencing Primer
(F):5'- AACCCTCATGTTTAAGATTTGAAAAC -3'
(R):5'- GAATGCCATTCTTGCACTTGAG -3'

Posted On

2019-05-15