Incidental Mutation 'R5556:Cherp'
ID 435394
Institutional Source Beutler Lab
Gene Symbol Cherp
Ensembl Gene ENSMUSG00000052488
Gene Name calcium homeostasis endoplasmic reticulum protein
Synonyms DAN16, SCAF6, D8Wsu96e, 5730408I11Rik
MMRRC Submission 043113-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.964) question?
Stock # R5556 (G1)
Quality Score 221
Status Not validated
Chromosome 8
Chromosomal Location 73214333-73229070 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 73221824 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Histidine at position 313 (Q313H)
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: Q324H

PolyPhen 2 Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000078469
Gene: ENSMUSG00000052488
AA Change: Q324H

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: ENSMUST00000212870
Predicted Effect probably damaging
Transcript: ENSMUST00000212991
AA Change: Q313H

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik T A 11: 72,066,026 (GRCm39) probably null Het
Abca13 A T 11: 9,208,546 (GRCm39) I240F possibly damaging Het
Accs A G 2: 93,666,428 (GRCm39) Y420H probably damaging Het
Aco2 T C 15: 81,773,520 (GRCm39) Y20H probably damaging Het
Adck2 T C 6: 39,560,869 (GRCm39) V419A probably benign Het
Bahd1 T A 2: 118,746,751 (GRCm39) N123K probably damaging Het
Cast A G 13: 74,844,008 (GRCm39) probably null Het
Cd164l2 T A 4: 132,951,016 (GRCm39) V157E probably damaging Het
Cdk11b C T 4: 155,718,604 (GRCm39) Q185* probably null Het
Ces2g T C 8: 105,694,074 (GRCm39) F470S probably benign Het
Chrna4 A G 2: 180,675,773 (GRCm39) V110A possibly damaging Het
Cndp2 A G 18: 84,690,249 (GRCm39) V231A probably benign Het
Cst7 A T 2: 150,412,488 (GRCm39) H17L probably benign Het
Decr1 C T 4: 15,919,244 (GRCm39) D300N probably damaging Het
Dennd4b G A 3: 90,175,675 (GRCm39) R148Q probably damaging Het
Dgkb T G 12: 38,177,363 (GRCm39) V230G probably damaging Het
Dis3l2 T C 1: 86,901,126 (GRCm39) V439A possibly damaging Het
Disp3 C T 4: 148,342,614 (GRCm39) G612D probably benign Het
Dock7 T C 4: 98,832,972 (GRCm39) T1962A probably damaging Het
Entrep2 A G 7: 64,505,957 (GRCm39) F96S probably damaging Het
Fibp T A 19: 5,514,227 (GRCm39) V304E possibly damaging Het
Flt3 T A 5: 147,269,807 (GRCm39) probably null Het
Kifc3 G A 8: 95,835,087 (GRCm39) Q233* probably null Het
Klhl42 C A 6: 147,009,610 (GRCm39) S483Y probably benign Het
Map3k19 G A 1: 127,762,284 (GRCm39) R276* probably null Het
Mecom A G 3: 30,292,249 (GRCm39) S87P probably damaging Het
Med13 A G 11: 86,218,664 (GRCm39) V416A probably benign Het
Mepe G A 5: 104,486,078 (GRCm39) G406D probably damaging Het
Met T G 6: 17,534,175 (GRCm39) L673V probably benign Het
Mlh3 A T 12: 85,315,267 (GRCm39) Y306* probably null Het
Nrxn2 C A 19: 6,540,121 (GRCm39) A814E probably damaging Het
Nsmaf C T 4: 6,398,621 (GRCm39) V828I probably benign Het
Or2j3 T A 17: 38,615,964 (GRCm39) K129N possibly damaging Het
Or9r7 A T 10: 129,962,728 (GRCm39) L66H probably damaging Het
Panx1 A G 9: 14,918,929 (GRCm39) I310T possibly damaging Het
Pcare T C 17: 72,059,420 (GRCm39) K86E possibly damaging Het
Pcdhb6 T A 18: 37,467,442 (GRCm39) L121Q probably damaging Het
Plekha7 G A 7: 115,763,384 (GRCm39) T406I probably benign Het
Prtg T C 9: 72,758,986 (GRCm39) S447P probably damaging Het
Ptprr A G 10: 116,087,054 (GRCm39) Y267C probably damaging Het
Rbpjl A G 2: 164,249,982 (GRCm39) T134A probably benign Het
Relch C A 1: 105,620,892 (GRCm39) Q456K probably benign Het
Rpe C A 1: 66,745,625 (GRCm39) T55N probably damaging Het
Scn1a T C 2: 66,155,141 (GRCm39) D606G probably benign Het
Setd5 T A 6: 113,124,463 (GRCm39) N1105K probably benign Het
Sh3d21 T C 4: 126,056,029 (GRCm39) N126D possibly damaging Het
Shank1 A G 7: 43,993,739 (GRCm39) probably benign Het
Srgap3 T A 6: 112,716,039 (GRCm39) D627V probably damaging Het
Tacc2 T A 7: 130,276,336 (GRCm39) S1796T probably damaging Het
Tmco3 G A 8: 13,344,870 (GRCm39) V217I probably damaging Het
Trgc4 A T 13: 19,536,477 (GRCm39) R178S unknown Het
Tspan10 A T 11: 120,335,541 (GRCm39) Y217F possibly damaging Het
Usp3 G A 9: 66,451,303 (GRCm39) T153M possibly damaging Het
Xdh G T 17: 74,204,759 (GRCm39) T1067K probably benign Het
Zfp334 T C 2: 165,222,504 (GRCm39) D513G 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
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'- AACCTCATACCTGGCTGGGTAG -3'
(R):5'- TCAGGACGTTTAAAACTGCCC -3'

Sequencing Primer
(F):5'- CATACCTGGCTGGGTAGTTGGTG -3'
(R):5'- GGACGTTTAAAACTGCCCACTATTG -3'
Posted On 2016-10-24