Mutagenetix > Incidental Mutation

Incidental Mutation 'R1116:Micu2'

97341

Institutional Source

Beutler Lab

Gene Symbol

Micu2

Ensembl Gene

ENSMUSG00000021973

Gene Name

mitochondrial calcium uptake 2

Synonyms

4833427E09Rik, 1110008L20Rik, Efha1

MMRRC Submission

039189-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1116 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58153718-58236716 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 58191657 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 131 (D131E)

Ref Sequence

ENSEMBL: ENSMUSP00000022543 (fasta)

Gene Model

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

AlphaFold

Q8CD10

Predicted Effect

probably benign
Transcript: ENSMUST00000022543
AA Change: D131E

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

SMART Domains

Protein: ENSMUSP00000022543
Gene: ENSMUSG00000021973
AA Change: D131E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225116

Meta Mutation Damage Score

0.0607

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 92.8%

Validation Efficiency

100% (49/49)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	T	C	16: 56,506,792 (GRCm39)		probably benign	Het
Acacb	C	T	5: 114,349,017 (GRCm39)	P1028S	probably damaging	Het
Acad10	A	G	5: 121,768,814 (GRCm39)	F717S	probably damaging	Het
Adgrg6	A	T	10: 14,314,172 (GRCm39)	Y705N	probably benign	Het
Adm	A	G	7: 110,227,501 (GRCm39)	I6V	probably benign	Het
Agps	T	G	2: 75,692,269 (GRCm39)		probably benign	Het
Atr	C	T	9: 95,749,689 (GRCm39)	Q501*	probably null	Het
Cacna2d3	A	G	14: 28,786,278 (GRCm39)		probably benign	Het
Ccnt1	G	A	15: 98,442,219 (GRCm39)	R350W	probably damaging	Het
Cfap74	G	A	4: 155,518,453 (GRCm39)	E564K	probably benign	Het
Clip1	T	C	5: 123,717,554 (GRCm39)	E1250G	probably damaging	Het
Cryz	A	C	3: 154,327,240 (GRCm39)		probably benign	Het
Dnah1	C	A	14: 31,029,824 (GRCm39)	V494F	probably benign	Het
Dpep3	G	T	8: 106,705,461 (GRCm39)	D96E	probably damaging	Het
Dyrk3	G	A	1: 131,056,919 (GRCm39)	A418V	probably damaging	Het
Ehf	T	A	2: 103,097,354 (GRCm39)	N231I	probably damaging	Het
Eif4g3	T	C	4: 137,819,086 (GRCm39)		probably null	Het
Ergic3	G	A	2: 155,858,707 (GRCm39)	V278M	probably benign	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fam178b	A	T	1: 36,617,669 (GRCm39)	C82*	probably null	Het
Gm1647	C	T	3: 69,064,205 (GRCm39)	Q31*	probably null	Het
Got1	T	A	19: 43,491,413 (GRCm39)	K346*	probably null	Het
Grid2ip	G	A	5: 143,368,669 (GRCm39)	G656D	possibly damaging	Het
Grm2	A	G	9: 106,525,126 (GRCm39)	Y530H	probably damaging	Het
Hyou1	T	C	9: 44,295,978 (GRCm39)	I381T	probably damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Marchf11	T	C	15: 26,409,381 (GRCm39)	L360P	probably damaging	Het
Mettl17	T	C	14: 52,127,055 (GRCm39)	V281A	probably benign	Het
Mug1	G	C	6: 121,847,604 (GRCm39)	V661L	probably benign	Het
Myo18b	A	T	5: 112,951,145 (GRCm39)	D1488E	probably damaging	Het
Nkg7	G	A	7: 43,086,878 (GRCm39)	V51I	probably benign	Het
Nlgn1	A	C	3: 25,488,038 (GRCm39)	S766A	probably benign	Het
Or4d2b	T	A	11: 87,780,234 (GRCm39)	M163L	probably benign	Het
Otog	T	C	7: 45,950,025 (GRCm39)		probably benign	Het
Pax2	T	C	19: 44,745,863 (GRCm39)	S11P	probably damaging	Het
Pck2	A	G	14: 55,782,823 (GRCm39)	D392G	probably benign	Het
Plxnd1	A	T	6: 115,943,966 (GRCm39)		probably null	Het
Prkdc	A	G	16: 15,600,943 (GRCm39)	D2868G	probably benign	Het
Prl3d2	T	C	13: 27,309,985 (GRCm39)	L149P	probably damaging	Het
Purg	A	T	8: 33,876,773 (GRCm39)	H137L	probably benign	Het
Slc38a8	A	T	8: 120,222,872 (GRCm39)	L150Q	probably damaging	Het
Tifab	T	A	13: 56,324,025 (GRCm39)	R139S	possibly damaging	Het
Txndc16	T	C	14: 45,400,442 (GRCm39)	H353R	probably benign	Het
Ulbp3	A	T	10: 3,070,180 (GRCm39)		noncoding transcript	Het
Upk2	A	G	9: 44,365,086 (GRCm39)		probably null	Het
Zdhhc25	G	A	15: 88,484,823 (GRCm39)	V53I	probably benign	Het
Zfp738	T	A	13: 67,818,362 (GRCm39)		probably null	Het
Zfp810	C	T	9: 22,190,381 (GRCm39)	E176K	probably benign	Het
Zfp846	T	A	9: 20,504,559 (GRCm39)	W140R	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
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
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'- GCCAACTCCTCACTTCACACGTT -3'
(R):5'- TGGCTTCCCCAAGCCTCCAG -3'

Sequencing Primer
(F):5'- GAAACACCTATTGTATCACATGGC -3'
(R):5'- ccccccctacctcaacc -3'

Posted On

2014-01-05