Incidental Mutation 'R5875:Chp1'
ID 455439
Institutional Source Beutler Lab
Gene Symbol Chp1
Ensembl Gene ENSMUSG00000014077
Gene Name calcineurin-like EF hand protein 1
Synonyms Sid470p, 1500003O03Rik, vac
MMRRC Submission 044082-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.468) question?
Stock # R5875 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 119378178-119417508 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 119402296 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 90 (F90Y)
Ref Sequence ENSEMBL: ENSMUSP00000114013 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014221] [ENSMUST00000119172] [ENSMUST00000132448]
AlphaFold P61022
Predicted Effect probably damaging
Transcript: ENSMUST00000014221
AA Change: F90Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000014221
Gene: ENSMUSG00000014077
AA Change: F90Y

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 damaging
Transcript: ENSMUST00000119172
AA Change: F90Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114013
Gene: ENSMUSG00000014077
AA Change: F90Y

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 damaging
Transcript: ENSMUST00000132448
AA Change: F7Y

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137585
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154406
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.4%
  • 20x: 91.9%
Validation Efficiency
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810024B03Rik A G 2: 127,028,737 (GRCm39) V154A possibly damaging Het
Abcc1 A G 16: 14,284,901 (GRCm39) E1250G possibly damaging Het
Ajap1 A C 4: 153,516,798 (GRCm39) I181R probably damaging Het
Akap9 A G 5: 4,127,285 (GRCm39) Y3711C probably benign Het
Ark2c T C 18: 77,650,877 (GRCm39) probably benign Het
Arl1 T C 10: 88,577,841 (GRCm39) S137P probably benign Het
Atp6v0a2 G A 5: 124,793,391 (GRCm39) V583I probably benign Het
Cdca7 T A 2: 72,313,901 (GRCm39) M230K probably benign Het
Chd9 A T 8: 91,778,464 (GRCm39) D2841V probably damaging Het
Ckap5 A G 2: 91,391,206 (GRCm39) T345A probably benign Het
Clca4b A C 3: 144,628,650 (GRCm39) S352R probably benign Het
Cmya5 A G 13: 93,231,692 (GRCm39) V1132A probably benign Het
Crb2 T A 2: 37,677,266 (GRCm39) probably null Het
Crhbp A G 13: 95,580,304 (GRCm39) F99L probably benign Het
Dnmt3l A T 10: 77,889,772 (GRCm39) M210L probably benign Het
Dyrk2 T A 10: 118,696,602 (GRCm39) R219W probably damaging Het
Exosc1 A G 19: 41,916,542 (GRCm39) I78T probably damaging Het
Exosc9 T C 3: 36,615,342 (GRCm39) probably null Het
Frmd5 A G 2: 121,388,959 (GRCm39) probably benign Het
Gata2 T C 6: 88,179,473 (GRCm39) L315P probably damaging Het
Gm17067 G A 7: 42,357,470 (GRCm39) T344I probably benign Het
Gm4884 A T 7: 40,692,360 (GRCm39) T110S possibly damaging Het
Hapln3 T C 7: 78,771,721 (GRCm39) E56G probably benign Het
Helq A C 5: 100,944,336 (GRCm39) I258S probably damaging Het
Hoxd10 T C 2: 74,522,426 (GRCm39) Y35H possibly damaging Het
Inpp5b T C 4: 124,674,199 (GRCm39) V302A possibly damaging Het
Inpp5d T A 1: 87,645,696 (GRCm39) I1027N possibly damaging Het
Ints2 T C 11: 86,129,138 (GRCm39) S482G probably benign Het
Itih1 C T 14: 30,651,487 (GRCm39) V902I probably benign Het
Jkampl T C 6: 73,446,028 (GRCm39) I174V possibly damaging Het
Kctd16 T A 18: 40,390,447 (GRCm39) probably benign Het
Kif27 T C 13: 58,458,918 (GRCm39) N971S probably benign Het
Klra17 T C 6: 129,851,791 (GRCm39) D27G probably benign Het
Leo1 G C 9: 75,357,842 (GRCm39) R412S probably damaging Het
Lonrf2 T C 1: 38,846,128 (GRCm39) N348S probably benign Het
Lpp G A 16: 24,427,059 (GRCm39) G62E probably benign Het
Lyn G A 4: 3,745,631 (GRCm39) probably null Het
Macf1 T A 4: 123,326,107 (GRCm39) N5128I possibly damaging Het
Mapk7 T A 11: 61,384,524 (GRCm39) I61L probably benign Het
Mindy1 T C 3: 95,202,125 (GRCm39) V334A probably damaging Het
Muc20 G A 16: 32,614,189 (GRCm39) T396I possibly damaging Het
Myo5b A T 18: 74,840,973 (GRCm39) probably null Het
Noc4l A C 5: 110,799,176 (GRCm39) probably null Het
Oas1c A G 5: 120,943,627 (GRCm39) Y171H probably damaging Het
Pclo A T 5: 14,730,614 (GRCm39) probably benign Het
Pmpcb G A 5: 21,947,944 (GRCm39) E216K probably benign Het
Pskh1 G A 8: 106,639,731 (GRCm39) R137Q possibly damaging Het
Ptprb T G 10: 116,184,071 (GRCm39) W1628G probably benign Het
Ranbp3 T A 17: 57,014,955 (GRCm39) probably null Het
Sart1 T C 19: 5,433,823 (GRCm39) D338G probably damaging Het
Scn8a T A 15: 100,870,703 (GRCm39) Y251* probably null Het
Sdk2 G T 11: 113,720,885 (GRCm39) T1348K probably benign Het
Sec16a A G 2: 26,323,379 (GRCm39) Y1272H probably damaging Het
Slc26a1 A T 5: 108,819,903 (GRCm39) L432Q probably damaging Het
Susd1 A T 4: 59,412,203 (GRCm39) F117I possibly damaging Het
Taf5 A T 19: 47,064,549 (GRCm39) Y465F probably damaging Het
Tcstv1a T A 13: 120,355,630 (GRCm39) M1L probably benign Het
Tectb A G 19: 55,178,058 (GRCm39) D193G possibly damaging Het
Tex56 T G 13: 35,116,429 (GRCm39) C59W probably damaging Het
Tirap G A 9: 35,100,465 (GRCm39) P73L probably damaging Het
Tm6sf2 A G 8: 70,528,039 (GRCm39) D86G possibly damaging Het
Tmem161b A T 13: 84,442,977 (GRCm39) H481L probably damaging Het
Tnrc6c G A 11: 117,650,534 (GRCm39) V1763I probably damaging Het
Ubxn1 T C 19: 8,849,584 (GRCm39) S75P probably benign Het
Uhrf2 A G 19: 30,066,702 (GRCm39) K709E probably damaging Het
Vmn2r101 T A 17: 19,809,092 (GRCm39) Y74N probably damaging Het
Xirp2 A G 2: 67,335,424 (GRCm39) E81G probably benign Het
Zbtb45 A G 7: 12,742,237 (GRCm39) V7A possibly damaging Het
Zfp668 C A 7: 127,465,474 (GRCm39) R570L possibly damaging Het
Zmiz1 T A 14: 25,636,390 (GRCm39) M125K possibly damaging Het
Zmiz2 T C 11: 6,355,072 (GRCm39) L913P probably damaging 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
R0497:Chp1 UTSW 2 119,402,263 (GRCm39) missense possibly damaging 0.49
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'- ATGGTAACCTAGCTTGTGGAAG -3'
(R):5'- TGTTGCTCAGTAGAAAGAGTGC -3'

Sequencing Primer
(F):5'- AACCTAGCTTGTGGAAGACCTTG -3'
(R):5'- AGAGGCTCTGAGTTCAATTCCCAG -3'
Posted On 2017-02-10