Incidental Mutation 'R3899:Cherp'
ID 308871
Institutional Source Beutler Lab
Gene Symbol Cherp
Ensembl Gene ENSMUSG00000052488
Gene Name calcium homeostasis endoplasmic reticulum protein
Synonyms DAN16, SCAF6, D8Wsu96e, 5730408I11Rik
MMRRC Submission 040809-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.964) question?
Stock # R3899 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 73214333-73229070 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 73223780 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 201 (I201T)
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: I201T

PolyPhen 2 Score 0.556 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000078469
Gene: ENSMUSG00000052488
AA Change: I201T

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 possibly damaging
Transcript: ENSMUST00000212991
AA Change: I201T

PolyPhen 2 Score 0.625 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212870
Meta Mutation Damage Score 0.5277 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 98% (62/63)
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss2 A G 2: 155,399,157 (GRCm39) probably benign Het
Ahctf1 A G 1: 179,605,345 (GRCm39) S730P possibly damaging Het
Ankrd26 T A 6: 118,526,389 (GRCm39) R327S probably benign Het
Anpep A G 7: 79,488,973 (GRCm39) S372P probably benign Het
Apob A T 12: 8,065,849 (GRCm39) I4273F possibly damaging Het
Ascl1 G T 10: 87,328,435 (GRCm39) H172Q probably benign Het
Azi2 A G 9: 117,876,571 (GRCm39) Y29C probably damaging Het
Baz1a A G 12: 54,981,589 (GRCm39) M355T probably benign Het
Brs3 G A X: 56,092,616 (GRCm39) V367M possibly damaging Het
Ccdc33 T C 9: 57,940,200 (GRCm39) D524G probably damaging Het
Cd300lf T C 11: 115,015,177 (GRCm39) T138A probably damaging Het
Cemip2 A G 19: 21,829,598 (GRCm39) T1236A probably benign Het
Ces1g T C 8: 94,029,678 (GRCm39) Y518C probably damaging Het
Chek2 C T 5: 111,013,479 (GRCm39) probably benign Het
Cntnap2 A T 6: 45,968,837 (GRCm39) H193L probably benign Het
Crim1 C A 17: 78,588,783 (GRCm39) T286N probably benign Het
Cwc27 T A 13: 104,929,023 (GRCm39) K307* probably null Het
Dbx2 T C 15: 95,530,313 (GRCm39) D218G possibly damaging Het
Dclk1 G A 3: 55,154,750 (GRCm39) R60Q probably damaging Het
Dnah17 A T 11: 117,985,634 (GRCm39) I1481N possibly damaging Het
Dnah8 G A 17: 31,073,872 (GRCm39) R4514H probably damaging Het
Dpp10 A T 1: 123,281,286 (GRCm39) W588R probably damaging Het
Epg5 G A 18: 78,000,725 (GRCm39) E554K probably damaging Het
Eya1 T C 1: 14,340,971 (GRCm39) T139A probably benign Het
Fchsd2 A G 7: 100,841,006 (GRCm39) K172E possibly damaging Het
Foxd3 A G 4: 99,545,736 (GRCm39) Y292C unknown Het
Gli1 C T 10: 127,172,535 (GRCm39) M202I possibly damaging Het
Gm973 T C 1: 59,664,299 (GRCm39) Y634H probably benign Het
Gpr132 G T 12: 112,815,728 (GRCm39) A366E probably benign Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Kcnq3 C T 15: 65,902,372 (GRCm39) M201I probably benign Het
Khdc3 T C 9: 73,011,628 (GRCm39) probably benign Het
Lrrc37a A G 11: 103,388,372 (GRCm39) V2351A unknown Het
Mmrn2 G T 14: 34,121,517 (GRCm39) probably null Het
Mtr A T 13: 12,231,735 (GRCm39) N656K probably benign Het
Mtus1 T C 8: 41,536,166 (GRCm39) T517A probably benign Het
Osgep G C 14: 51,162,200 (GRCm39) N12K probably damaging Het
Pcare A T 17: 72,057,155 (GRCm39) C841S probably benign Het
Prdx3 T A 19: 60,853,621 (GRCm39) T235S probably benign Het
Rasa3 G A 8: 13,628,635 (GRCm39) H608Y probably benign Het
Rd3 T C 1: 191,717,217 (GRCm39) V114A probably damaging Het
Setd2 C T 9: 110,421,586 (GRCm39) R273W probably damaging Het
Slc24a1 A T 9: 64,835,426 (GRCm39) S900R probably damaging Het
Slc30a5 T C 13: 100,954,655 (GRCm39) M170V probably benign Het
Slc4a9 T C 18: 36,668,616 (GRCm39) V732A probably benign Het
Slc7a2 C T 8: 41,358,590 (GRCm39) T311M possibly damaging Het
Smarcc1 T C 9: 109,947,586 (GRCm39) probably benign Het
Stk32b A G 5: 37,614,498 (GRCm39) S337P probably damaging Het
Thop1 G A 10: 80,916,278 (GRCm39) G429S probably damaging Het
Timp2 C T 11: 118,194,542 (GRCm39) D139N probably damaging Het
Tmem45a T C 16: 56,627,101 (GRCm39) E256G probably damaging Het
Tox4 T A 14: 52,517,299 (GRCm39) Y10N probably damaging Het
Trpm3 A G 19: 22,878,524 (GRCm39) M642V possibly damaging Het
Ttll10 T C 4: 156,120,257 (GRCm39) T508A probably damaging Het
Tut7 T A 13: 59,937,069 (GRCm39) K791* probably null Het
Ubash3b C T 9: 40,942,860 (GRCm39) D211N probably benign Het
Usp36 T A 11: 118,170,650 (GRCm39) D28V possibly damaging Het
Vmn2r97 T C 17: 19,167,873 (GRCm39) I709T probably damaging Het
Zfp936 T A 7: 42,839,158 (GRCm39) N207K possibly damaging Het
Zfp946 T G 17: 22,673,531 (GRCm39) I95S probably benign Het
Zhx3 A T 2: 160,622,371 (GRCm39) S599T possibly damaging 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
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
R6255:Cherp UTSW 8 73,224,725 (GRCm39) missense probably damaging 0.99
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'- CACTGTCCTGGGAGTACAAG -3'
(R):5'- GCGAGTTTGACAACCTGCTAC -3'

Sequencing Primer
(F):5'- CTGTCCTGGGAGTACAAGCAGTG -3'
(R):5'- TTGACACCTGCACAAAGGATG -3'
Posted On 2015-04-17