Mutagenetix > Incidental Mutation

Incidental Mutation 'P0023:Chp2'

15602

Institutional Source

Beutler Lab

Gene Symbol

Chp2

Ensembl Gene

ENSMUSG00000030865

Gene Name

calcineurin-like EF hand protein 2

Synonyms

Cbhp2, 2010110P09Rik

MMRRC Submission

038276-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.230) question?

Stock #

P0023 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

121818719-121822047 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 121821361 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 185 (N185S)

Ref Sequence

ENSEMBL: ENSMUSP00000033152 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033152]

AlphaFold

Q9D869

Predicted Effect

probably benign
Transcript: ENSMUST00000033152
AA Change: N185S

PolyPhen 2 Score 0.359 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000033152
Gene: ENSMUSG00000030865
AA Change: N185S

Domain	Start	End	E-Value	Type
EFh	30	58	1.02e2	SMART
EFh	115	143	3.22e-5	SMART
EFh	156	184	8.02e0	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160828

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 85.1%
3x: 76.2%
10x: 34.8%
20x: 2.4%

Validation Efficiency

97% (62/64)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product is a small calcium-binding protein that regulates cell pH by controlling plasma membrane-type Na+/H+ exchange activity. This protein shares sequence similarity with calcineurin B and can bind to and stimulate the protein phosphatase activity of calcineurin A (CnA) and functions in the calcineurin/NFAT (nuclear factor of activated T cells) signaling pathway. Another member of the CHP subfamily, Calcineurin B homologous protein 1, is located on Chromosome 15 and is an inhibitor of calcineurin activity and has a genetic phenotype associated with Parkinson's Disease (OMIM:606988). This gene was initially identified as a tumor-associated antigen and was previously referred to as Hepatocellular carcinoma-associated antigen 520. [provided by RefSeq, Jul 2013]

Allele List at MGI

Other mutations in this stock

Total: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr3	A	T	1: 125,322,803 (GRCm39)		probably null	Het
Cited2	A	G	10: 17,600,463 (GRCm39)	D257G	probably damaging	Het
Clptm1l	G	T	13: 73,753,071 (GRCm39)	R62L	possibly damaging	Het
Cmya5	C	T	13: 93,225,854 (GRCm39)	S3078N	probably benign	Het
Dcaf1	T	A	9: 106,737,650 (GRCm39)	F1169I	probably benign	Het
Efhc1	G	A	1: 21,025,751 (GRCm39)	V86I	probably benign	Het
Fanci	A	C	7: 79,052,048 (GRCm39)	D107A	probably benign	Het
Fyb1	A	T	15: 6,681,335 (GRCm39)	K74M	probably damaging	Het
Gapvd1	A	G	2: 34,596,700 (GRCm39)		probably benign	Het
Gm11992	T	C	11: 9,002,846 (GRCm39)	Y70H	probably damaging	Het
Lrba	A	G	3: 86,325,242 (GRCm39)	E1900G	probably damaging	Het
Lrpprc	G	A	17: 85,033,766 (GRCm39)	T1037M	probably benign	Het
Or8b50	A	G	9: 38,517,941 (GRCm39)	Y60C	probably damaging	Het
Piezo2	A	G	18: 63,519,271 (GRCm39)		probably benign	Het
Pld1	T	C	3: 28,102,274 (GRCm39)	S342P	probably damaging	Het
Prkag3	A	G	1: 74,779,898 (GRCm39)	L479P	probably damaging	Het
Rsf1	T	C	7: 97,311,478 (GRCm39)	I736T	probably damaging	Het
Tet2	C	A	3: 133,192,654 (GRCm39)	M593I	probably benign	Het
Ttpal	T	C	2: 163,453,729 (GRCm39)	Y167H	probably damaging	Het

Other mutations in Chp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
lanelin	UTSW	7	121,821,161 (GRCm39)	missense	probably damaging	1.00
R4420:Chp2	UTSW	7	121,821,161 (GRCm39)	missense	probably damaging	1.00
R4478:Chp2	UTSW	7	121,820,141 (GRCm39)	missense	probably benign
R4479:Chp2	UTSW	7	121,820,141 (GRCm39)	missense	probably benign
R4815:Chp2	UTSW	7	121,820,123 (GRCm39)	missense	probably damaging	1.00
R6617:Chp2	UTSW	7	121,819,917 (GRCm39)	missense	probably benign	0.36
R6999:Chp2	UTSW	7	121,821,092 (GRCm39)	missense	probably damaging	1.00
R8331:Chp2	UTSW	7	121,821,133 (GRCm39)	missense	probably damaging	1.00
X0065:Chp2	UTSW	7	121,820,084 (GRCm39)	missense	possibly damaging	0.70

Posted On

2012-12-21