Mutagenetix > Incidental Mutation

Incidental Mutation 'R2419:Mcur1'

249163

Institutional Source

Beutler Lab

Gene Symbol

Mcur1

Ensembl Gene

ENSMUSG00000021371

Gene Name

mitochondrial calcium uniporter regulator 1

Synonyms

Ccdc90a, 6230416A05Rik

MMRRC Submission

040381-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2419 (G1)

Quality Score

225

Status

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: 94.9%

Validation Efficiency

98% (57/58)

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
Acyp2	T	C	11: 30,582,316 (GRCm39)	Y33C	probably benign	Het
Ampd3	A	G	7: 110,367,576 (GRCm39)		probably benign	Het
Arap3	T	C	18: 38,122,997 (GRCm39)	D501G	probably damaging	Het
Arl4d	A	T	11: 101,557,714 (GRCm39)	Q80L	probably damaging	Het
Bcorl1	A	G	X: 47,459,418 (GRCm39)	T425A	probably damaging	Het
Ccdc38	T	A	10: 93,384,837 (GRCm39)	V35D	probably benign	Het
Cd6	G	A	19: 10,770,216 (GRCm39)	P492S	probably damaging	Het
Cdh20	G	A	1: 104,902,740 (GRCm39)	S477N	possibly damaging	Het
Cnmd	G	A	14: 79,875,488 (GRCm39)	P311S	probably damaging	Het
Cnot8	G	A	11: 58,006,136 (GRCm39)	G222R	probably damaging	Het
Dnah9	A	T	11: 65,986,241 (GRCm39)	L1131*	probably null	Het
Dscc1	G	A	15: 54,946,820 (GRCm39)	R302*	probably null	Het
Dusp18	T	C	11: 3,847,018 (GRCm39)	S3P	possibly damaging	Het
Eml2	A	G	7: 18,910,620 (GRCm39)		probably benign	Het
Foxb2	G	C	19: 16,850,325 (GRCm39)	A227G	probably damaging	Het
Hey1	A	G	3: 8,731,003 (GRCm39)		probably null	Het
Itk	A	G	11: 46,229,044 (GRCm39)	F379L	probably damaging	Het
Kcna2	G	A	3: 107,011,469 (GRCm39)	G17R	probably benign	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
Leng9	A	G	7: 4,151,626 (GRCm39)	V350A	probably benign	Het
Lmbr1l	A	C	15: 98,805,418 (GRCm39)	F361C	possibly damaging	Het
Lrat	A	G	3: 82,810,992 (GRCm39)	S10P	probably damaging	Het
Lrrk2	C	A	15: 91,681,729 (GRCm39)		probably benign	Het
Met	T	C	6: 17,535,829 (GRCm39)		probably benign	Het
Mical3	A	G	6: 120,936,884 (GRCm39)	V342A	probably benign	Het
Nup210	G	A	6: 90,994,538 (GRCm39)		probably benign	Het
Or1i2	T	A	10: 78,448,221 (GRCm39)	I85F	probably benign	Het
Or1j12	T	A	2: 36,343,338 (GRCm39)	V247E	probably damaging	Het
Or4c107	A	G	2: 88,789,380 (GRCm39)	N190S	probably benign	Het
Pcdhac1	T	C	18: 37,224,381 (GRCm39)	L398P	probably benign	Het
Phc3	T	C	3: 31,005,027 (GRCm39)	M189V	probably damaging	Het
Plcb1	A	G	2: 135,104,020 (GRCm39)		probably benign	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
Rbbp5	T	C	1: 132,421,564 (GRCm39)	I88T	possibly damaging	Het
Rfpl4b	T	C	10: 38,697,368 (GRCm39)	R78G	probably benign	Het
Rsf1	CG	CGACGGCGGGG	7: 97,229,115 (GRCm39)		probably benign	Het
Samt2	A	T	X: 153,358,223 (GRCm39)		probably null	Het
Sdad1	T	C	5: 92,453,677 (GRCm39)	H37R	possibly damaging	Het
Setd2	T	A	9: 110,378,065 (GRCm39)	F627I	possibly damaging	Het
Ski	A	G	4: 155,245,350 (GRCm39)	S293P	probably benign	Het
Slc27a1	A	G	8: 72,032,560 (GRCm39)	E191G	possibly damaging	Het
Snx18	T	C	13: 113,753,755 (GRCm39)	M393V	possibly damaging	Het
Spata31g1	A	G	4: 42,974,146 (GRCm39)	T1160A	possibly damaging	Het
Tacc1	A	G	8: 25,672,829 (GRCm39)	V42A	possibly damaging	Het
Tbc1d8	A	G	1: 39,415,983 (GRCm39)	F897L	probably damaging	Het
Tenm3	C	T	8: 48,729,693 (GRCm39)	D1438N	possibly damaging	Het
Tmem62	G	A	2: 120,837,586 (GRCm39)	G501E	probably damaging	Het
Tmem94	A	G	11: 115,687,641 (GRCm39)	K1167E	probably damaging	Het
Trap1	A	G	16: 3,886,194 (GRCm39)	S88P	probably benign	Het
Ugt2b38	T	C	5: 87,571,591 (GRCm39)	D147G	probably 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
Zcchc14	T	A	8: 122,330,675 (GRCm39)	Q896L	probably damaging	Het
Zfp619	A	G	7: 39,185,307 (GRCm39)	K446E	possibly damaging	Het
Zpr1	T	C	9: 46,187,490 (GRCm39)		probably benign	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
R2418: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'- CGGGTCGTCAAAACATCACC -3'
(R):5'- CATTAATGGGATGACTGTAAACGGG -3'

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

Posted On

2014-11-12