Mutagenetix > Incidental Mutation

Incidental Mutation 'R0201:Mcu'

23651

Institutional Source

Beutler Lab

Gene Symbol

Mcu

Ensembl Gene

ENSMUSG00000009647

Gene Name

mitochondrial calcium uniporter

Synonyms

D130073L02Rik, Ccdc109a, 2010012O16Rik

MMRRC Submission

038458-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0201 (G1)

Quality Score

214

Status

Validated

Chromosome

Chromosomal Location

59282806-59452514 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59292499 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 60 (L60P)

Ref Sequence

ENSEMBL: ENSMUSP00000009791 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000009791] [ENSMUST00000020312]

AlphaFold

Q3UMR5

Predicted Effect

probably damaging
Transcript: ENSMUST00000009791
AA Change: L60P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000009791
Gene: ENSMUSG00000009647
AA Change: L60P

Domain	Start	End	E-Value	Type
Pfam:DUF607	1	171	3.7e-61	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000020312
AA Change: L209P

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000020312
Gene: ENSMUSG00000009647
AA Change: L209P

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
low complexity region	66	77	N/A	INTRINSIC
Pfam:MCU	114	319	3.5e-78	PFAM

Meta Mutation Damage Score

0.9508

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 94.2%

Validation Efficiency

97% (91/94)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a calcium transporter that localizes to the mitochondrial inner membrane. The encoded protein interacts with mitochondrial calcium uptake 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit impaired calcium-induced permeability transition pore opening, decreased body size and weight, decreased exercise endurance and decreased grip strength. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamdec1	A	G	14: 68,819,406 (GRCm39)		probably null	Het
Adamts16	T	A	13: 70,927,763 (GRCm39)	Q492L	possibly damaging	Het
Aplnr	A	G	2: 84,967,521 (GRCm39)	D182G	probably damaging	Het
Arnt2	G	T	7: 84,010,867 (GRCm39)	S3*	probably null	Het
Asxl3	T	C	18: 22,656,211 (GRCm39)	V1407A	probably benign	Het
Atg13	A	T	2: 91,515,107 (GRCm39)		probably null	Het
Atm	A	T	9: 53,365,579 (GRCm39)		probably benign	Het
Birc6	T	G	17: 74,916,322 (GRCm39)	V1746G	possibly damaging	Het
Cbln1	G	T	8: 88,198,741 (GRCm39)	T43K	probably benign	Het
Cbx5	T	C	15: 103,108,127 (GRCm39)	T173A	probably damaging	Het
Cc2d2a	A	G	5: 43,894,854 (GRCm39)	Y1437C	probably damaging	Het
Ccdc78	C	A	17: 26,008,210 (GRCm39)		probably benign	Het
Cd2bp2	A	G	7: 126,793,000 (GRCm39)	Y341H	probably damaging	Het
Cdhr5	T	A	7: 140,856,291 (GRCm39)	D88V	probably damaging	Het
Ces1f	T	A	8: 93,993,957 (GRCm39)	T275S	probably null	Het
Cimip4	T	A	15: 78,263,028 (GRCm39)	M209L	probably damaging	Het
Clca4a	T	C	3: 144,666,478 (GRCm39)	N458S	probably benign	Het
Cog5	A	G	12: 31,889,840 (GRCm39)	K521R	probably damaging	Het
Csf2ra	T	A	19: 61,214,006 (GRCm39)	T305S	probably benign	Het
Csmd3	T	A	15: 47,483,125 (GRCm39)		probably benign	Het
Cts6	T	A	13: 61,349,313 (GRCm39)	R132*	probably null	Het
D5Ertd579e	G	T	5: 36,773,809 (GRCm39)	N195K	probably damaging	Het
Ddx1	A	G	12: 13,273,809 (GRCm39)	V606A	probably damaging	Het
Dip2b	G	A	15: 100,084,028 (GRCm39)	D884N	probably damaging	Het
Ehhadh	A	G	16: 21,592,243 (GRCm39)		probably null	Het
Enpp1	T	A	10: 24,529,815 (GRCm39)	T608S	probably benign	Het
Fancm	T	C	12: 65,148,406 (GRCm39)	Y674H	probably damaging	Het
Fat4	T	A	3: 38,945,745 (GRCm39)	V1546D	probably damaging	Het
Fsd1	G	A	17: 56,297,522 (GRCm39)	A158T	probably benign	Het
Fzd2	T	A	11: 102,496,948 (GRCm39)	M464K	probably damaging	Het
Gjc2	A	G	11: 59,068,416 (GRCm39)	F22S	possibly damaging	Het
Gria2	T	C	3: 80,615,145 (GRCm39)	Y445C	probably damaging	Het
Hsdl1	T	A	8: 120,292,995 (GRCm39)	I147F	possibly damaging	Het
Ifi44	T	C	3: 151,451,273 (GRCm39)	Y226C	probably damaging	Het
Il16	A	G	7: 83,371,516 (GRCm39)	C97R	probably damaging	Het
Impg1	A	T	9: 80,252,843 (GRCm39)	S369T	probably damaging	Het
Jmjd1c	A	G	10: 67,054,888 (GRCm39)	T390A	unknown	Het
Lgi1	A	G	19: 38,289,741 (GRCm39)	E269G	possibly damaging	Het
Lrp6	G	T	6: 134,427,860 (GRCm39)	Y1577*	probably null	Het
Lrrc74a	G	T	12: 86,808,547 (GRCm39)		probably benign	Het
Man1c1	A	T	4: 134,367,709 (GRCm39)		probably null	Het
Map1lc3b	A	C	8: 122,317,289 (GRCm39)	Q9P	possibly damaging	Het
Mboat1	G	A	13: 30,386,358 (GRCm39)	R124H	probably benign	Het
Mrs2	G	T	13: 25,202,517 (GRCm39)	Q75K	probably benign	Het
Muc2	CGTG	CGTGTG	7: 141,699,185 (GRCm38)		probably null	Het
Neb	G	A	2: 52,096,890 (GRCm39)		probably benign	Het
Nlrp2	C	T	7: 5,331,328 (GRCm39)	G356D	probably benign	Het
Notch3	A	G	17: 32,375,122 (GRCm39)		probably benign	Het
Npr2	A	C	4: 43,641,617 (GRCm39)	S474R	probably damaging	Het
Nup58	A	G	14: 60,482,065 (GRCm39)	F100L	probably benign	Het
Osbpl6	A	C	2: 76,376,386 (GRCm39)	D87A	possibly damaging	Het
Pabpc2	A	T	18: 39,908,360 (GRCm39)	M542L	probably benign	Het
Papln	A	G	12: 83,829,801 (GRCm39)		probably benign	Het
Parpbp	T	C	10: 87,928,758 (GRCm39)	I561V	possibly damaging	Het
Pcdhb13	C	T	18: 37,575,634 (GRCm39)	A4V	probably benign	Het
Pelp1	T	C	11: 70,286,530 (GRCm39)	T533A	possibly damaging	Het
Poldip3	T	A	15: 83,019,497 (GRCm39)	M182L	probably benign	Het
Por	T	C	5: 135,760,032 (GRCm39)	S240P	possibly damaging	Het
Pramel15	A	T	4: 144,103,843 (GRCm39)		probably benign	Het
Pramel28	T	C	4: 143,691,460 (GRCm39)	E421G	probably damaging	Het
Prss22	A	T	17: 24,215,275 (GRCm39)	V167D	probably damaging	Het
Prss37	A	C	6: 40,493,283 (GRCm39)	L61R	probably damaging	Het
Psmd1	C	T	1: 86,046,338 (GRCm39)	T702M	probably benign	Het
Pxdn	G	T	12: 30,052,430 (GRCm39)	G869V	possibly damaging	Het
Rabgap1l	A	G	1: 160,281,315 (GRCm39)		probably benign	Het
Rapgef6	T	C	11: 54,510,767 (GRCm39)	V228A	probably damaging	Het
Rnf169	T	C	7: 99,575,210 (GRCm39)	R462G	possibly damaging	Het
Rnft2	A	G	5: 118,332,745 (GRCm39)		probably benign	Het
Sgo2b	T	C	8: 64,379,670 (GRCm39)	D1054G	probably benign	Het
Sh3bgr	T	C	16: 96,029,717 (GRCm39)		probably benign	Het
Slc12a4	A	G	8: 106,671,982 (GRCm39)	V910A	possibly damaging	Het
Slc6a12	A	T	6: 121,332,331 (GRCm39)	I222F	probably benign	Het
Spty2d1	G	A	7: 46,647,649 (GRCm39)	R427*	probably null	Het
Ssc5d	A	G	7: 4,947,662 (GRCm39)	T1339A	probably benign	Het
Sspo	A	C	6: 48,432,686 (GRCm39)	E854A	possibly damaging	Het
Stx7	A	G	10: 24,060,977 (GRCm39)		probably benign	Het
Styk1	A	T	6: 131,278,693 (GRCm39)		probably benign	Het
Tmem163	T	G	1: 127,596,374 (GRCm39)		probably benign	Het
Tmppe	C	CT	9: 114,233,707 (GRCm39)		probably null	Het
Tmx2	A	G	2: 84,503,426 (GRCm39)	V229A	probably benign	Het
Top2b	T	C	14: 16,383,174 (GRCm38)	L54P	probably damaging	Het
Trim62	A	T	4: 128,796,343 (GRCm39)	Y280F	probably benign	Het
Tssk4	A	T	14: 55,889,016 (GRCm39)	K181*	probably null	Het
Tssk4	A	T	14: 55,889,017 (GRCm39)	K181M	probably damaging	Het
Ubn1	A	G	16: 4,882,478 (GRCm39)	D313G	probably damaging	Het
Ugt1a10	C	T	1: 88,142,845 (GRCm39)	P113L	probably damaging	Het
Ugt1a10	C	T	1: 88,145,971 (GRCm39)	P473L	probably damaging	Het

Other mutations in Mcu

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02673:Mcu	APN	10	59,303,466 (GRCm39)	missense	probably damaging	1.00
IGL03074:Mcu	APN	10	59,303,580 (GRCm39)	missense	probably damaging	0.99
R0445:Mcu	UTSW	10	59,292,467 (GRCm39)	splice site	probably benign
R1256:Mcu	UTSW	10	59,290,790 (GRCm39)	missense	probably damaging	1.00
R1497:Mcu	UTSW	10	59,284,670 (GRCm39)	missense	probably damaging	1.00
R2322:Mcu	UTSW	10	59,290,766 (GRCm39)	critical splice donor site	probably null
R2404:Mcu	UTSW	10	59,303,526 (GRCm39)	missense	probably damaging	1.00
R4517:Mcu	UTSW	10	59,303,456 (GRCm39)	missense	probably damaging	1.00
R4666:Mcu	UTSW	10	59,292,521 (GRCm39)	missense	probably damaging	1.00
R4821:Mcu	UTSW	10	59,303,511 (GRCm39)	missense	probably damaging	0.99
R5940:Mcu	UTSW	10	59,292,554 (GRCm39)	missense	possibly damaging	0.94
R6949:Mcu	UTSW	10	59,292,566 (GRCm39)	missense	possibly damaging	0.94
R8054:Mcu	UTSW	10	59,290,817 (GRCm39)	missense	probably damaging	1.00
R8701:Mcu	UTSW	10	59,303,475 (GRCm39)	missense	probably damaging	1.00
R8810:Mcu	UTSW	10	59,303,535 (GRCm39)	nonsense	probably null
R8893:Mcu	UTSW	10	59,287,078 (GRCm39)	missense	probably benign	0.41
RF007:Mcu	UTSW	10	59,326,938 (GRCm39)	missense	probably benign	0.00
Z1177:Mcu	UTSW	10	59,292,593 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- GGTCTCTTACTGTGCTCCAGACAATTC -3'
(R):5'- CTCCTGTTATGGATGGAACCGCTTG -3'

Sequencing Primer
(F):5'- AGACAATTCCCTTTATTTTGGCTGTG -3'
(R):5'- gtcacttctctccttccacc -3'

Posted On

2013-04-16