Incidental Mutation 'R0497:Chp1'
ID 40514
Institutional Source Beutler Lab
Gene Symbol Chp1
Ensembl Gene ENSMUSG00000014077
Gene Name calcineurin-like EF hand protein 1
Synonyms Sid470p, 1500003O03Rik, vac
MMRRC Submission 038693-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.468) question?
Stock # R0497 (G1)
Quality Score 203
Status Validated
Chromosome 2
Chromosomal Location 119378178-119417508 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 119402263 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 79 (N79S)
Ref Sequence ENSEMBL: ENSMUSP00000014221 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014221] [ENSMUST00000119172] [ENSMUST00000132448]
AlphaFold P61022
Predicted Effect possibly damaging
Transcript: ENSMUST00000014221
AA Change: N79S

PolyPhen 2 Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000014221
Gene: ENSMUSG00000014077
AA Change: N79S

DomainStartEndE-ValueType
Blast:EFh 30 58 8e-7 BLAST
EFh 114 142 4.81e-4 SMART
EFh 155 183 6.16e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000119172
AA Change: N79S

PolyPhen 2 Score 0.283 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000114013
Gene: ENSMUSG00000014077
AA Change: N79S

DomainStartEndE-ValueType
Pfam:EF-hand_6 30 63 2.1e-4 PFAM
EFh 114 142 4.81e-4 SMART
EFh 155 183 5.08e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000132448
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137585
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154406
Meta Mutation Damage Score 0.0989 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.7%
  • 10x: 96.6%
  • 20x: 93.1%
Validation Efficiency 100% (68/68)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a phosphoprotein that binds to the Na+/H+ exchanger NHE1. This protein serves as an essential cofactor which supports the physiological activity of NHE family members and may play a role in the mitogenic regulation of NHE1. The protein shares similarity with calcineurin B and calmodulin and it is also known to be an endogenous inhibitor of calcineurin activity. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for an ENU mutation display ataxia and progressive Purkinje cell axonal dystrophy. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk A C 11: 119,909,606 (GRCm39) V110G probably damaging Het
Adcy6 A C 15: 98,495,606 (GRCm39) probably null Het
Adm A G 7: 110,228,328 (GRCm39) T170A probably benign Het
Afap1l2 G T 19: 56,918,641 (GRCm39) N171K probably benign Het
Aph1b G T 9: 66,697,900 (GRCm39) S112* probably null Het
Arhgap23 A G 11: 97,342,989 (GRCm39) S424G probably damaging Het
Asah2 T A 19: 32,032,031 (GRCm39) N46I probably benign Het
Braf G A 6: 39,617,483 (GRCm39) probably benign Het
Brd2 C T 17: 34,333,334 (GRCm39) R47Q probably damaging Het
C2cd5 A G 6: 142,957,819 (GRCm39) V972A probably benign Het
Car9 T A 4: 43,511,881 (GRCm39) L300H probably damaging Het
Chmp3 T C 6: 71,529,395 (GRCm39) S20P probably damaging Het
Cnot2 A T 10: 116,334,260 (GRCm39) I335N probably damaging Het
Cntnap4 T C 8: 113,296,783 (GRCm39) V6A probably benign Het
Ctcf T A 8: 106,401,672 (GRCm39) probably benign Het
Dennd1b A G 1: 138,967,724 (GRCm39) probably benign Het
Dnmbp A G 19: 43,845,079 (GRCm39) probably benign Het
Eef2 T C 10: 81,017,420 (GRCm39) F782L probably benign Het
Eogt T A 6: 97,112,194 (GRCm39) Y153F probably benign Het
Fam81a G T 9: 70,003,401 (GRCm39) Q237K possibly damaging Het
Fat2 T A 11: 55,174,228 (GRCm39) T2162S probably benign Het
Fcgbpl1 T A 7: 27,846,890 (GRCm39) C1158S probably damaging Het
Gas6 T C 8: 13,520,387 (GRCm39) I434V possibly damaging Het
Gm42417 A T 1: 36,571,248 (GRCm39) L77Q probably damaging Het
Grik3 A T 4: 125,517,303 (GRCm39) N49Y possibly damaging Het
Gucy2e A T 11: 69,114,985 (GRCm39) V974E probably damaging Het
Helz2 A G 2: 180,871,449 (GRCm39) V2721A probably damaging Het
Klhl6 GT G 16: 19,775,716 (GRCm39) 279 probably null Het
Krt73 A G 15: 101,710,665 (GRCm39) L23P probably damaging Het
L3mbtl3 T C 10: 26,158,772 (GRCm39) probably benign Het
Lrrc15 A T 16: 30,091,710 (GRCm39) V543E probably damaging Het
Med13 G A 11: 86,167,809 (GRCm39) probably benign Het
Med25 T C 7: 44,541,524 (GRCm39) D60G probably damaging Het
Mgam T A 6: 40,641,826 (GRCm39) Y560N probably damaging Het
Mlkl A G 8: 112,054,505 (GRCm39) Y211H probably damaging Het
Msl2 A G 9: 100,978,493 (GRCm39) N289S probably benign Het
Nwd2 G T 5: 63,963,686 (GRCm39) W1090L probably damaging Het
Omt2b T C 9: 78,235,513 (GRCm39) probably benign Het
Or4k37 A G 2: 111,159,175 (GRCm39) D137G probably benign Het
Pald1 A G 10: 61,177,094 (GRCm39) L652P probably damaging Het
Pard3b T A 1: 62,479,167 (GRCm39) probably null Het
Prdm15 G A 16: 97,595,534 (GRCm39) T1098I possibly damaging Het
Rock2 A G 12: 17,004,954 (GRCm39) T436A probably benign Het
Sema4c A T 1: 36,588,689 (GRCm39) D812E probably benign Het
Sla A T 15: 66,664,098 (GRCm39) I91K probably benign Het
Slc22a16 T G 10: 40,460,963 (GRCm39) M255R probably damaging Het
Slc49a4 A T 16: 35,555,974 (GRCm39) V162D probably benign Het
Smg8 C T 11: 86,976,910 (GRCm39) D224N possibly damaging Het
Spdef A T 17: 27,937,032 (GRCm39) D190E probably benign Het
Taok1 A G 11: 77,464,630 (GRCm39) I152T probably damaging Het
Tmem220 A G 11: 66,916,748 (GRCm39) D36G probably damaging Het
Tmem235 A C 11: 117,755,177 (GRCm39) I210L probably benign Het
Tmem266 C T 9: 55,288,168 (GRCm39) probably null Het
Tmprss12 A G 15: 100,178,920 (GRCm39) probably benign Het
Trim32 G A 4: 65,531,491 (GRCm39) R16Q probably damaging Het
Usp38 T A 8: 81,711,053 (GRCm39) probably benign Het
Usp44 C T 10: 93,682,668 (GRCm39) P373S possibly damaging Het
Vmn1r209 G T 13: 22,990,118 (GRCm39) Q191K probably damaging Het
Vmn1r70 T C 7: 10,367,953 (GRCm39) I147T probably benign Het
Vmn2r107 T A 17: 20,595,394 (GRCm39) I649N probably damaging Het
Vmn2r12 A T 5: 109,239,755 (GRCm39) Y269* probably null Het
Zan C T 5: 137,410,938 (GRCm39) probably benign Het
Zfp616 G T 11: 73,974,306 (GRCm39) V192L probably benign Het
Zfp644 A T 5: 106,786,199 (GRCm39) V116D probably damaging Het
Zgrf1 T C 3: 127,378,299 (GRCm39) probably benign Het
Zhx3 A T 2: 160,621,914 (GRCm39) L751* probably null Het
Znfx1 T A 2: 166,897,331 (GRCm39) Q531L probably benign Het
Other mutations in Chp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03077:Chp1 APN 2 119,415,081 (GRCm39) missense probably benign 0.00
R0470:Chp1 UTSW 2 119,391,244 (GRCm39) missense probably damaging 1.00
R5875:Chp1 UTSW 2 119,402,296 (GRCm39) missense probably damaging 1.00
R6551:Chp1 UTSW 2 119,402,294 (GRCm39) missense possibly damaging 0.92
R7557:Chp1 UTSW 2 119,391,238 (GRCm39) missense probably damaging 0.97
R7633:Chp1 UTSW 2 119,391,226 (GRCm39) missense probably benign 0.00
R7689:Chp1 UTSW 2 119,415,146 (GRCm39) missense probably benign 0.04
R8179:Chp1 UTSW 2 119,378,253 (GRCm39) unclassified probably benign
RF004:Chp1 UTSW 2 119,411,195 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- accatctcagaacaacagaTAAACAAGCAA -3'
(R):5'- aTGAGCCGGGtcccagca -3'

Sequencing Primer
(F):5'- cacccgactgctcttcc -3'
(R):5'- gaagcagaggcaggcgg -3'
Posted On 2013-05-23