Mutagenetix > Incidental Mutation

Incidental Mutation 'R2418:Mcur1'

249098

Institutional Source

Beutler Lab

Gene Symbol

Mcur1

Ensembl Gene

ENSMUSG00000021371

Gene Name

mitochondrial calcium uniporter regulator 1

Synonyms

Ccdc90a, 6230416A05Rik

MMRRC Submission

040380-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2418 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43691869-43713667 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 43703013 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 241 (V241M)

Ref Sequence

ENSEMBL: ENSMUSP00000021800 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021800]

AlphaFold

Q9CXD6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021800
AA Change: V241M

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000021800
Gene: ENSMUSG00000021371
AA Change: V241M

Domain	Start	End	E-Value	Type
low complexity region	48	80	N/A	INTRINSIC
low complexity region	85	125	N/A	INTRINSIC
Pfam:DUF1640	147	339	3.7e-58	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223347

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223353

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a conditional allele activated in cardiomyocytes exhibit postnatal lethality, reduced body size and impaired mitochondrial calcium uptake. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	G	A	2: 25,328,001 (GRCm39)	A768T	probably benign	Het
Acox3	A	G	5: 35,761,982 (GRCm39)	N442S	probably benign	Het
Acp5	C	A	9: 22,041,248 (GRCm39)	V60L	probably benign	Het
Arap3	T	C	18: 38,122,997 (GRCm39)	D501G	probably damaging	Het
Bcorl1	A	G	X: 47,459,418 (GRCm39)	T425A	probably damaging	Het
Btd	G	A	14: 31,363,093 (GRCm39)		probably null	Het
Cfap251	A	C	5: 123,392,331 (GRCm39)		probably benign	Het
Cfap74	T	A	4: 155,540,166 (GRCm39)		probably benign	Het
Cnot8	G	A	11: 58,006,136 (GRCm39)	G222R	probably damaging	Het
Col4a4	G	T	1: 82,510,657 (GRCm39)	A205E	unknown	Het
Cwf19l1	T	C	19: 44,119,911 (GRCm39)	T77A	probably benign	Het
Cyp2b9	A	G	7: 25,886,132 (GRCm39)	T100A	probably benign	Het
Ddx24	A	G	12: 103,383,996 (GRCm39)	L485P	probably damaging	Het
Dnah9	A	T	11: 65,986,241 (GRCm39)	L1131*	probably null	Het
Dnase1l3	T	A	14: 7,968,089 (GRCm38)	E272V	possibly damaging	Het
Dscc1	G	A	15: 54,946,820 (GRCm39)	R302*	probably null	Het
Elk3	T	C	10: 93,120,689 (GRCm39)	N50S	probably damaging	Het
Fmo3	A	T	1: 162,794,527 (GRCm39)	I181K	probably benign	Het
Golga3	T	C	5: 110,349,734 (GRCm39)	I655T	probably damaging	Het
Hspa1l	A	T	17: 35,196,164 (GRCm39)	T68S	probably benign	Het
Itgax	C	T	7: 127,741,505 (GRCm39)	R839W	probably damaging	Het
Itk	A	G	11: 46,229,044 (GRCm39)	F379L	probably damaging	Het
Kif7	C	A	7: 79,348,441 (GRCm39)	R1300L	probably benign	Het
Klkb1	A	T	8: 45,742,149 (GRCm39)	D43E	possibly damaging	Het
Kmt5b	C	T	19: 3,857,266 (GRCm39)	A318V	probably benign	Het
Krt78	T	C	15: 101,855,069 (GRCm39)	Y914C	probably benign	Het
Lactb2	T	C	1: 13,730,563 (GRCm39)	T38A	possibly damaging	Het
Lmbr1l	A	C	15: 98,805,418 (GRCm39)	F361C	possibly damaging	Het
Magi1	T	C	6: 93,722,891 (GRCm39)	D329G	probably damaging	Het
Map3k5	T	A	10: 19,986,603 (GRCm39)	V939E	probably benign	Het
Mcm8	C	T	2: 132,666,658 (GRCm39)	A233V	probably benign	Het
Mical2	G	T	7: 111,919,941 (GRCm39)		probably null	Het
Nudt13	A	G	14: 20,361,581 (GRCm39)	E219G	probably damaging	Het
Or4c107	A	G	2: 88,789,380 (GRCm39)	N190S	probably benign	Het
Or52d3	A	T	7: 104,229,141 (GRCm39)	H96L	probably benign	Het
Or6b1	A	G	6: 42,814,983 (GRCm39)	H56R	probably benign	Het
Osbpl7	A	C	11: 96,950,004 (GRCm39)	D395A	probably benign	Het
Osbpl9	A	G	4: 108,923,415 (GRCm39)	C495R	probably damaging	Het
Pcdhac1	T	C	18: 37,224,381 (GRCm39)	L398P	probably benign	Het
Pcnx4	T	A	12: 72,603,037 (GRCm39)	F433Y	probably damaging	Het
Pdp1	G	A	4: 11,961,838 (GRCm39)	P158S	probably damaging	Het
Pkd1l3	A	C	8: 110,397,353 (GRCm39)	*2152C	probably null	Het
Plcxd3	G	T	15: 4,604,245 (GRCm39)	K284N	probably benign	Het
Plxnb2	A	G	15: 89,045,272 (GRCm39)	V1058A	possibly damaging	Het
Ptbp1	T	C	10: 79,695,511 (GRCm39)	Y187H	probably damaging	Het
Resp18	T	C	1: 75,248,955 (GRCm39)	*176W	probably null	Het
Rps6ka2	A	C	17: 7,566,738 (GRCm39)	Q665H	possibly damaging	Het
Rtn1	T	C	12: 72,351,052 (GRCm39)	T386A	probably benign	Het
Samt2	A	T	X: 153,358,223 (GRCm39)		probably null	Het
Scn1a	T	C	2: 66,104,187 (GRCm39)	N1663S	probably damaging	Het
Smyd1	A	T	6: 71,216,537 (GRCm39)	I70N	probably damaging	Het
Tas2r105	T	C	6: 131,664,410 (GRCm39)	E6G	probably damaging	Het
Tchh	G	T	3: 93,352,936 (GRCm39)	R792L	unknown	Het
Tenm3	C	T	8: 48,729,693 (GRCm39)	D1438N	possibly damaging	Het
Tmem184b	A	G	15: 79,250,143 (GRCm39)	Y211H	possibly damaging	Het
Top3a	C	A	11: 60,638,842 (GRCm39)	G551V	possibly damaging	Het
Vmn1r168	A	T	7: 23,240,824 (GRCm39)	N227I	probably benign	Het
Vmn1r203	T	A	13: 22,709,004 (GRCm39)	S262T	possibly damaging	Het
Vmn1r204	T	G	13: 22,740,420 (GRCm39)	L17R	probably damaging	Het

Other mutations in Mcur1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02428:Mcur1	APN	13	43,695,203 (GRCm39)	missense	probably damaging	1.00
R0197:Mcur1	UTSW	13	43,699,216 (GRCm39)	missense	probably damaging	1.00
R0701:Mcur1	UTSW	13	43,699,216 (GRCm39)	missense	probably damaging	1.00
R1085:Mcur1	UTSW	13	43,708,480 (GRCm39)	missense	unknown
R1793:Mcur1	UTSW	13	43,713,491 (GRCm39)	missense	unknown
R2419:Mcur1	UTSW	13	43,703,013 (GRCm39)	missense	possibly damaging	0.91
R2508:Mcur1	UTSW	13	43,697,941 (GRCm39)	missense	probably damaging	1.00
R4535:Mcur1	UTSW	13	43,698,016 (GRCm39)	missense	probably damaging	1.00
R4817:Mcur1	UTSW	13	43,705,147 (GRCm39)	missense	possibly damaging	0.92
R6542:Mcur1	UTSW	13	43,705,134 (GRCm39)	missense	probably damaging	1.00
R7137:Mcur1	UTSW	13	43,697,931 (GRCm39)	critical splice donor site	probably null
R7177:Mcur1	UTSW	13	43,698,012 (GRCm39)	missense	probably damaging	0.98
R7589:Mcur1	UTSW	13	43,705,101 (GRCm39)	missense	probably damaging	1.00
R7679:Mcur1	UTSW	13	43,697,959 (GRCm39)	nonsense	probably null
R7859:Mcur1	UTSW	13	43,713,485 (GRCm39)	nonsense	probably null
R8686:Mcur1	UTSW	13	43,695,193 (GRCm39)	missense	probably damaging	1.00
R9572:Mcur1	UTSW	13	43,713,433 (GRCm39)	missense	probably benign	0.23

Predicted Primers

PCR Primer
(F):5'- GGGTCGTCAAAACATCACCTG -3'
(R):5'- CATTAATGGGATGACTGTAAACGGG -3'

Sequencing Primer
(F):5'- AAACATCACCTGACGTGTGCTTTG -3'
(R):5'- AGGCTAGCCTCAAATTCATTGC -3'

Posted On

2014-11-12