Incidental Mutation 'R4479:Chp2'
ID 331400
Institutional Source Beutler Lab
Gene Symbol Chp2
Ensembl Gene ENSMUSG00000030865
Gene Name calcineurin-like EF hand protein 2
Synonyms Cbhp2, 2010110P09Rik
MMRRC Submission 041736-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.126) question?
Stock # R4479 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 122219496-122222824 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 122220918 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 97 (D97G)
Ref Sequence ENSEMBL: ENSMUSP00000033152 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033152]
AlphaFold Q9D869
Predicted Effect probably benign
Transcript: ENSMUST00000033152
AA Change: D97G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000033152
Gene: ENSMUSG00000030865
AA Change: D97G

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 0.0611 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.6%
Validation Efficiency 95% (36/38)
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 T C 7: 46,005,239 T553A possibly damaging Het
Adamts20 C T 15: 94,403,445 R66H probably damaging Het
Anks1b A G 10: 90,049,892 E150G probably damaging Het
Cnbd2 T C 2: 156,333,653 probably benign Het
D130040H23Rik C A 8: 69,302,503 H187N possibly damaging Het
Dusp15 A G 2: 152,944,182 L135P probably damaging Het
Eif4g1 G T 16: 20,678,843 probably benign Het
Erlin2 G T 8: 27,025,099 V10L probably benign Het
F830104G03Rik A G 3: 56,890,213 S98P unknown Het
Fat3 G A 9: 15,998,271 S2145F probably damaging Het
Gm3159 T C 14: 4,398,584 Y92H probably damaging Het
Ighv1-22 G T 12: 114,746,663 A15E possibly damaging Het
Ints4 T C 7: 97,484,971 S37P probably damaging Het
Irs1 G A 1: 82,287,294 T1067I probably damaging Het
Lrrc28 C T 7: 67,531,614 probably null Het
Olfr1243 A G 2: 89,528,170 I80T possibly damaging Het
Olfr1420 A G 19: 11,896,558 Y179C probably damaging Het
Olfr206 G A 16: 59,344,867 T278I probably damaging Het
Psg18 C T 7: 18,350,862 S103N probably benign Het
Psma3 T C 12: 70,984,781 probably benign Het
Slc7a11 T C 3: 50,417,963 probably benign Het
Tas2r115 T C 6: 132,737,532 D152G probably damaging Het
Tti1 A T 2: 158,008,395 L308Q possibly damaging Het
Unc93b1 G A 19: 3,935,236 A15T probably benign Het
Usp43 G A 11: 67,856,407 R820C possibly damaging Het
Vmn2r68 TCC TC 7: 85,221,550 probably null Het
Vps8 A T 16: 21,545,236 probably benign Het
Wdr73 T C 7: 80,893,221 E213G probably benign Het
Zfp286 C G 11: 62,780,204 G348R probably damaging Het
Zkscan5 T C 5: 145,211,174 probably benign Het
Other mutations in Chp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
lanelin UTSW 7 122221938 missense probably damaging 1.00
P0023:Chp2 UTSW 7 122222138 missense probably benign 0.36
R4420:Chp2 UTSW 7 122221938 missense probably damaging 1.00
R4478:Chp2 UTSW 7 122220918 missense probably benign
R4815:Chp2 UTSW 7 122220900 missense probably damaging 1.00
R6617:Chp2 UTSW 7 122220694 missense probably benign 0.36
R6999:Chp2 UTSW 7 122221869 missense probably damaging 1.00
R8331:Chp2 UTSW 7 122221910 missense probably damaging 1.00
X0065:Chp2 UTSW 7 122220861 missense possibly damaging 0.70
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-07-21