Incidental Mutation 'R6255:Cherp'
ID 529326
Institutional Source Beutler Lab
Gene Symbol Cherp
Ensembl Gene ENSMUSG00000052488
Gene Name calcium homeostasis endoplasmic reticulum protein
Synonyms DAN16, SCAF6, D8Wsu96e, 5730408I11Rik
MMRRC Submission 044372-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.964) question?
Stock # R6255 (G1)
Quality Score 56.0072
Status Validated
Chromosome 8
Chromosomal Location 73214333-73229070 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 73224725 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Aspartic acid at position 125 (A125D)
Ref Sequence ENSEMBL: ENSMUSP00000148273 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079510] [ENSMUST00000212991]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000079510
AA Change: A125D

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000078469
Gene: ENSMUSG00000052488
AA Change: A125D

DomainStartEndE-ValueType
SWAP 13 65 9.76e-24 SMART
low complexity region 78 100 N/A INTRINSIC
low complexity region 107 124 N/A INTRINSIC
RPR 156 286 5.32e-2 SMART
coiled coil region 310 334 N/A INTRINSIC
low complexity region 362 385 N/A INTRINSIC
low complexity region 409 419 N/A INTRINSIC
low complexity region 439 463 N/A INTRINSIC
low complexity region 488 500 N/A INTRINSIC
low complexity region 526 560 N/A INTRINSIC
low complexity region 565 580 N/A INTRINSIC
low complexity region 591 606 N/A INTRINSIC
low complexity region 725 736 N/A INTRINSIC
low complexity region 743 829 N/A INTRINSIC
G_patch 850 900 9.8e-12 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183439
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212016
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212070
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212548
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212586
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212870
Predicted Effect probably damaging
Transcript: ENSMUST00000212991
AA Change: A125D

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.8%
Validation Efficiency 100% (58/58)
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik T A 13: 119,602,659 (GRCm39) V7E possibly damaging Het
Aars2 G A 17: 45,825,535 (GRCm39) G333S probably damaging Het
Aen T A 7: 78,555,592 (GRCm39) I85N probably damaging Het
Ahnak C A 19: 8,985,389 (GRCm39) H2224Q possibly damaging Het
Aldh18a1 C T 19: 40,568,487 (GRCm39) R41H possibly damaging Het
Bpifb9b T A 2: 154,151,284 (GRCm39) W2R probably damaging Het
Caprin2 A G 6: 148,779,390 (GRCm39) I139T probably benign Het
Cdhr3 T A 12: 33,103,474 (GRCm39) N381I probably damaging Het
Cecr2 A G 6: 120,735,011 (GRCm39) Y721C probably damaging Het
Cfhr4 A T 1: 139,680,749 (GRCm39) C256* probably null Het
Cped1 G A 6: 22,138,714 (GRCm39) probably null Het
Ctdp1 T A 18: 80,502,512 (GRCm39) probably null Het
Cyp2c55 T C 19: 39,007,111 (GRCm39) I169T probably benign Het
Cyp4a31 T C 4: 115,432,117 (GRCm39) L418P possibly damaging Het
Efcab7 T C 4: 99,717,627 (GRCm39) probably benign Het
Efcab8 T C 2: 153,652,188 (GRCm39) W466R possibly damaging Het
Ehd3 C A 17: 74,112,408 (GRCm39) N57K probably benign Het
Ern2 C A 7: 121,772,495 (GRCm39) K654N probably damaging Het
Fbh1 A T 2: 11,753,257 (GRCm39) F879L probably benign Het
Gde1 T C 7: 118,291,004 (GRCm39) D92G probably null Het
Heatr5b A G 17: 79,110,863 (GRCm39) V995A probably damaging Het
Ifrd2 A G 9: 107,469,290 (GRCm39) E346G probably damaging Het
Ism1 AACGGACCCGTTCTTGTGGCTATGCA AA 2: 139,587,962 (GRCm39) probably benign Het
Itgb4 T C 11: 115,888,963 (GRCm39) V1102A possibly damaging Het
Itgb6 A T 2: 60,435,620 (GRCm39) I710N probably damaging Het
Kif1a T C 1: 92,947,705 (GRCm39) K1578E probably damaging Het
Kif9 T C 9: 110,346,902 (GRCm39) probably null Het
Kitl T C 10: 99,925,095 (GRCm39) *57Q probably null Het
Lrat C A 3: 82,810,812 (GRCm39) V70F probably damaging Het
Lrrc9 T A 12: 72,533,797 (GRCm39) M1022K probably benign Het
Muc16 T C 9: 18,566,895 (GRCm39) T1875A unknown Het
Mup4 T A 4: 59,957,890 (GRCm39) N171I probably damaging Het
Npas4 G A 19: 5,036,403 (GRCm39) T587I probably damaging Het
Oas3 A G 5: 120,909,295 (GRCm39) V217A probably benign Het
Or6c1b A G 10: 129,273,557 (GRCm39) N292S possibly damaging Het
Osbp C A 19: 11,955,317 (GRCm39) A323D possibly damaging Het
Panx2 G A 15: 88,951,821 (GRCm39) R96H probably damaging Het
Pcdhb18 G A 18: 37,623,537 (GRCm39) R289Q probably benign Het
Piezo2 T C 18: 63,254,341 (GRCm39) R385G possibly damaging Het
Pkn2 T C 3: 142,517,360 (GRCm39) T476A probably damaging Het
Plekha4 T C 7: 45,203,226 (GRCm39) probably benign Het
Ppfibp2 T C 7: 107,280,969 (GRCm39) S94P probably damaging Het
Pramel7 T A 2: 87,320,007 (GRCm39) I429L probably benign Het
Rif1 A G 2: 51,975,065 (GRCm39) K325E probably damaging Het
Ror2 T C 13: 53,264,578 (GRCm39) Y826C probably damaging Het
Rsph10b G A 5: 143,896,564 (GRCm39) G19R probably damaging Het
Slc20a1 A G 2: 129,049,924 (GRCm39) N361D probably damaging Het
Slc26a9 A G 1: 131,691,647 (GRCm39) D630G probably benign Het
Smtnl2 G A 11: 72,292,225 (GRCm39) A274V probably damaging Het
Trank1 T C 9: 111,181,314 (GRCm39) probably null Het
Tspan10 T A 11: 120,335,368 (GRCm39) C159* probably null Het
Uba6 G A 5: 86,312,624 (GRCm39) T23I probably benign Het
Vmn2r74 T C 7: 85,601,659 (GRCm39) T660A possibly damaging Het
Vwa5b1 T C 4: 138,305,983 (GRCm39) N905S probably benign Het
Zfp831 T C 2: 174,488,214 (GRCm39) L963P possibly damaging Het
Zfp990 T A 4: 145,264,359 (GRCm39) N452K probably benign Het
Other mutations in Cherp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00790:Cherp APN 8 73,222,090 (GRCm39) missense probably damaging 0.97
IGL00955:Cherp APN 8 73,224,038 (GRCm39) missense probably damaging 0.99
R0452:Cherp UTSW 8 73,215,366 (GRCm39) unclassified probably benign
R0479:Cherp UTSW 8 73,216,991 (GRCm39) missense possibly damaging 0.66
R0594:Cherp UTSW 8 73,216,246 (GRCm39) critical splice donor site probably null
R1734:Cherp UTSW 8 73,223,932 (GRCm39) critical splice donor site probably null
R1781:Cherp UTSW 8 73,221,615 (GRCm39) missense probably damaging 1.00
R1793:Cherp UTSW 8 73,216,994 (GRCm39) missense probably benign 0.12
R2012:Cherp UTSW 8 73,228,613 (GRCm39) missense probably damaging 0.98
R2845:Cherp UTSW 8 73,220,247 (GRCm39) missense probably damaging 0.99
R3612:Cherp UTSW 8 73,215,840 (GRCm39) unclassified probably benign
R3693:Cherp UTSW 8 73,221,755 (GRCm39) small deletion probably benign
R3899:Cherp UTSW 8 73,223,780 (GRCm39) missense possibly damaging 0.63
R3900:Cherp UTSW 8 73,223,780 (GRCm39) missense possibly damaging 0.63
R3970:Cherp UTSW 8 73,223,795 (GRCm39) missense possibly damaging 0.60
R4915:Cherp UTSW 8 73,222,241 (GRCm39) missense probably damaging 1.00
R5512:Cherp UTSW 8 73,217,110 (GRCm39) missense possibly damaging 0.66
R5556:Cherp UTSW 8 73,221,824 (GRCm39) missense probably damaging 0.99
R5739:Cherp UTSW 8 73,221,659 (GRCm39) small deletion probably benign
R5768:Cherp UTSW 8 73,216,957 (GRCm39) missense probably damaging 0.98
R5824:Cherp UTSW 8 73,216,102 (GRCm39) unclassified probably benign
R5963:Cherp UTSW 8 73,215,379 (GRCm39) unclassified probably benign
R7145:Cherp UTSW 8 73,222,230 (GRCm39) missense
R7538:Cherp UTSW 8 73,216,263 (GRCm39) missense
R7578:Cherp UTSW 8 73,218,102 (GRCm39) missense
R8329:Cherp UTSW 8 73,215,852 (GRCm39) missense
R9717:Cherp UTSW 8 73,216,920 (GRCm39) critical splice donor site probably null
RF001:Cherp UTSW 8 73,215,893 (GRCm39) frame shift probably null
RF007:Cherp UTSW 8 73,215,903 (GRCm39) small deletion probably benign
RF036:Cherp UTSW 8 73,215,891 (GRCm39) frame shift probably null
RF036:Cherp UTSW 8 73,215,888 (GRCm39) frame shift probably null
RF059:Cherp UTSW 8 73,215,899 (GRCm39) frame shift probably null
T0722:Cherp UTSW 8 73,215,878 (GRCm39) small deletion probably benign
T0975:Cherp UTSW 8 73,215,878 (GRCm39) small deletion probably benign
Z1176:Cherp UTSW 8 73,224,797 (GRCm39) missense
Z1177:Cherp UTSW 8 73,228,979 (GRCm39) start gained probably benign
Z1177:Cherp UTSW 8 73,216,760 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- AAGATGGGGCCAATAATGCCC -3'
(R):5'- TCACCAAAAGGAACCTGGGG -3'

Sequencing Primer
(F):5'- CCTCCCTACTCATTAAGAATGGTAG -3'
(R):5'- TCCTGCTAGTAATCTGCAAGCAG -3'
Posted On 2018-07-31