Incidental Mutation 'R6999:Chp2'
ID 544393
Institutional Source Beutler Lab
Gene Symbol Chp2
Ensembl Gene ENSMUSG00000030865
Gene Name calcineurin-like EF hand protein 2
Synonyms Cbhp2, 2010110P09Rik
MMRRC Submission 045104-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.230) question?
Stock # R6999 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 121818719-121822047 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 121821092 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 151 (E151G)
Ref Sequence ENSEMBL: ENSMUSP00000033152 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033152]
AlphaFold Q9D869
Predicted Effect probably damaging
Transcript: ENSMUST00000033152
AA Change: E151G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033152
Gene: ENSMUSG00000030865
AA Change: E151G

DomainStartEndE-ValueType
EFh 30 58 1.02e2 SMART
EFh 115 143 3.22e-5 SMART
EFh 156 184 8.02e0 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 G A 1: 71,356,321 (GRCm39) Q629* probably null Het
Acss3 C A 10: 106,889,362 (GRCm39) G153C probably damaging Het
Alpk2 A G 18: 65,437,584 (GRCm39) S1270P probably damaging Het
Ankrd10 A T 8: 11,669,106 (GRCm39) L215Q probably damaging Het
Ankrd6 A G 4: 32,823,459 (GRCm39) S188P probably benign Het
Brinp2 A G 1: 158,078,875 (GRCm39) M316T probably benign Het
Bsn A G 9: 107,990,632 (GRCm39) S1707P probably benign Het
C2cd4b C T 9: 67,667,571 (GRCm39) A189V probably benign Het
Camk2b C T 11: 5,922,321 (GRCm39) R556H probably damaging Het
Cfap126 A G 1: 170,953,733 (GRCm39) D101G possibly damaging Het
Chd5 A T 4: 152,458,891 (GRCm39) I1085F probably damaging Het
Chrd A G 16: 20,554,402 (GRCm39) T370A probably benign Het
Chrnb2 C T 3: 89,668,622 (GRCm39) R231H possibly damaging Het
Crisp4 T A 1: 18,207,259 (GRCm39) I10F possibly damaging Het
Csnka2ip T A 16: 64,298,933 (GRCm39) H477L unknown Het
Ctu1 T A 7: 43,324,662 (GRCm39) F34I probably damaging Het
Dctn1 T A 6: 83,168,263 (GRCm39) S407T possibly damaging Het
Ech1 T C 7: 28,529,689 (GRCm39) F191L probably benign Het
Enpp3 T C 10: 24,684,064 (GRCm39) D60G probably damaging Het
Epha6 T C 16: 60,245,533 (GRCm39) Y222C possibly damaging Het
Eppk1 A T 15: 75,993,423 (GRCm39) W1153R probably benign Het
Fbxo4 C T 15: 4,007,437 (GRCm39) D76N probably damaging Het
Fndc7 G A 3: 108,783,964 (GRCm39) A215V probably benign Het
Gemin5 C T 11: 58,015,947 (GRCm39) R1352Q probably benign Het
Gm9639 T C 10: 77,630,525 (GRCm39) probably benign Het
Gm973 C A 1: 59,673,251 (GRCm39) Q160K unknown Het
Gpatch2l G A 12: 86,290,958 (GRCm39) R47H probably damaging Het
Grid2 A T 6: 64,053,893 (GRCm39) Q364L possibly damaging Het
Kcnn2 T G 18: 45,725,444 (GRCm39) S313R probably damaging Het
Kera T C 10: 97,444,814 (GRCm39) Y58H probably damaging Het
Meiosin A G 7: 18,836,300 (GRCm39) probably benign Het
Mtfr2 T C 10: 20,229,862 (GRCm39) L105P probably benign Het
Myom2 A G 8: 15,134,531 (GRCm39) T445A probably benign Het
Or2o1 A G 11: 49,051,239 (GRCm39) R133G possibly damaging Het
Or8b1c T A 9: 38,384,535 (GRCm39) L164Q probably damaging Het
Pcdha12 T C 18: 37,153,329 (GRCm39) L16P probably benign Het
Pcdhb10 T C 18: 37,546,171 (GRCm39) Y416H probably damaging Het
Pde8b T C 13: 95,223,342 (GRCm39) Y304C possibly damaging Het
Pkd1 T C 17: 24,797,475 (GRCm39) I2605T possibly damaging Het
Pnn T C 12: 59,117,085 (GRCm39) probably null Het
Ppa1 G A 10: 61,496,796 (GRCm39) G95S probably damaging Het
Rapgef4 G T 2: 72,069,469 (GRCm39) A730S probably damaging Het
Scap A G 9: 110,213,715 (GRCm39) Y1226C probably damaging Het
Scn2a A T 2: 65,512,453 (GRCm39) T197S probably benign Het
Slc2a6 GCTTCC GC 2: 26,916,047 (GRCm39) probably null Het
Slc8a3 T C 12: 81,361,529 (GRCm39) Y430C probably benign Het
Tead3 T C 17: 28,560,506 (GRCm39) T33A probably benign Het
Tep1 T A 14: 51,088,162 (GRCm39) I792F possibly damaging Het
Trpm2 A T 10: 77,771,725 (GRCm39) I638N probably damaging Het
Tuba1c A G 15: 98,935,193 (GRCm39) D218G probably benign Het
Tubgcp4 T A 2: 121,022,778 (GRCm39) W495R probably damaging Het
Tut1 T C 19: 8,943,382 (GRCm39) L823P probably damaging Het
Ube2q2l T C 6: 136,378,272 (GRCm39) N186S probably benign Het
Umodl1 C T 17: 31,218,097 (GRCm39) A1228V probably damaging Het
Vmn1r235 T A 17: 21,482,127 (GRCm39) F151I probably benign Het
Vmn2r45 T A 7: 8,486,219 (GRCm39) K356N probably benign Het
Zfp318 T A 17: 46,710,969 (GRCm39) N897K probably damaging Het
Other mutations in Chp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
lanelin UTSW 7 121,821,161 (GRCm39) missense probably damaging 1.00
P0023:Chp2 UTSW 7 121,821,361 (GRCm39) missense probably benign 0.36
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
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
Predicted Primers PCR Primer
(F):5'- CACAGTGCCAGGCATTTACTAC -3'
(R):5'- GTCCTAGCATCTCCCAGAATGC -3'

Sequencing Primer
(F):5'- CCAGGCATTTACTACAGGCTG -3'
(R):5'- AGAATGCACCTCTCCCCGG -3'
Posted On 2019-05-13