Incidental Mutation 'PIT4576001:Calr4'
ID 556367
Institutional Source Beutler Lab
Gene Symbol Calr4
Ensembl Gene ENSMUSG00000028558
Gene Name calreticulin 4
Synonyms 4933403L16Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.097) question?
Stock # PIT4576001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 109091682-109111768 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 109093053 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Histidine at position 44 (Q44H)
Ref Sequence ENSEMBL: ENSMUSP00000030285 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030285] [ENSMUST00000106628] [ENSMUST00000106629] [ENSMUST00000106631]
AlphaFold Q3TQS0
Predicted Effect possibly damaging
Transcript: ENSMUST00000030285
AA Change: Q44H

PolyPhen 2 Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000030285
Gene: ENSMUSG00000028558
AA Change: Q44H

DomainStartEndE-ValueType
Pfam:Calreticulin 11 246 7e-61 PFAM
Pfam:Calreticulin 243 318 1.7e-21 PFAM
coiled coil region 336 416 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106628
SMART Domains Protein: ENSMUSP00000102239
Gene: ENSMUSG00000028558

DomainStartEndE-ValueType
Pfam:Calreticulin 1 211 6.4e-77 PFAM
coiled coil region 229 309 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106629
SMART Domains Protein: ENSMUSP00000102240
Gene: ENSMUSG00000028558

DomainStartEndE-ValueType
Pfam:Calreticulin 1 211 6.4e-77 PFAM
coiled coil region 229 309 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106631
SMART Domains Protein: ENSMUSP00000102242
Gene: ENSMUSG00000028558

DomainStartEndE-ValueType
Pfam:Calreticulin 1 211 6.4e-77 PFAM
coiled coil region 229 309 N/A INTRINSIC
Coding Region Coverage
  • 1x: 93.1%
  • 3x: 90.8%
  • 10x: 85.3%
  • 20x: 72.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930544G11Rik T C 6: 65,929,983 (GRCm39) S73P probably damaging Het
5730596B20Rik G T 6: 52,156,449 (GRCm39) V172F unknown Het
Brms1 A G 19: 5,096,229 (GRCm39) K69E probably damaging Het
Dnmt1 G A 9: 20,823,071 (GRCm39) T1242I probably benign Het
Dyrk3 A G 1: 131,057,918 (GRCm39) V85A probably damaging Het
Eif2a T C 3: 58,452,974 (GRCm39) Y250H probably damaging Het
Esco1 T C 18: 10,572,093 (GRCm39) E749G probably damaging Het
Fat1 A G 8: 45,477,682 (GRCm39) I2243V probably damaging Het
Gh A T 11: 106,191,659 (GRCm39) F128I possibly damaging Het
Gm17669 TAA TAAA 18: 67,695,819 (GRCm39) probably null Het
Gtpbp4 A G 13: 9,041,763 (GRCm39) Y150H probably damaging Het
H2ac15 C A 13: 21,937,781 (GRCm39) D73Y probably damaging Het
Itga8 A G 2: 12,234,903 (GRCm39) S452P probably benign Het
Kcnma1 C T 14: 23,359,103 (GRCm39) probably null Het
Macf1 T C 4: 123,367,114 (GRCm39) E2549G probably benign Het
Mindy1 C T 3: 95,195,380 (GRCm39) A41V probably benign Het
Mypn T A 10: 62,955,850 (GRCm39) K1201M probably damaging Het
Ncor1 A G 11: 62,224,543 (GRCm39) S906P probably damaging Het
Npy1r T C 8: 67,156,874 (GRCm39) V98A probably benign Het
Pate2 A G 9: 35,581,889 (GRCm39) Y61C probably damaging Het
Pfdn2 A G 1: 171,173,310 (GRCm39) S11G unknown Het
Prdm1 T C 10: 44,334,504 (GRCm39) M1V probably null Het
Prelp A G 1: 133,842,903 (GRCm39) S81P possibly damaging Het
Prss12 T C 3: 123,280,764 (GRCm39) V483A probably damaging Het
Prss43 G C 9: 110,656,955 (GRCm39) V154L probably damaging Het
Ptpru G A 4: 131,529,855 (GRCm39) R618* probably null Het
Rpa1 A G 11: 75,203,984 (GRCm39) S288P probably damaging Het
Semp2l1 T C 1: 32,585,553 (GRCm39) E119G probably damaging Het
Siglec1 A G 2: 130,920,081 (GRCm39) F817L probably damaging Het
Skint6 T A 4: 112,910,564 (GRCm39) S545C possibly damaging Het
Slit1 A T 19: 41,612,988 (GRCm39) V844D possibly damaging Het
Suclg2 G T 6: 95,563,999 (GRCm39) D195E possibly damaging Het
Tln1 G T 4: 43,539,998 (GRCm39) A1537D probably damaging Het
Trpv2 A G 11: 62,472,027 (GRCm39) D73G probably damaging Het
Ucp3 T C 7: 100,129,458 (GRCm39) S98P probably benign Het
Usp19 T A 9: 108,369,931 (GRCm39) probably null Het
Vmn2r112 T C 17: 22,833,912 (GRCm39) F527L probably benign Het
Vmn2r93 T C 17: 18,533,473 (GRCm39) V459A probably benign Het
Other mutations in Calr4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00229:Calr4 APN 4 109,101,312 (GRCm39) missense probably damaging 1.00
IGL01392:Calr4 APN 4 109,111,071 (GRCm39) missense probably benign 0.41
IGL01676:Calr4 APN 4 109,101,447 (GRCm39) missense probably damaging 0.99
IGL02587:Calr4 APN 4 109,096,134 (GRCm39) missense possibly damaging 0.76
R0525:Calr4 UTSW 4 109,099,461 (GRCm39) splice site probably benign
R1444:Calr4 UTSW 4 109,103,438 (GRCm39) missense possibly damaging 0.76
R1899:Calr4 UTSW 4 109,103,490 (GRCm39) critical splice donor site probably null
R4561:Calr4 UTSW 4 109,103,379 (GRCm39) missense probably damaging 0.97
R5001:Calr4 UTSW 4 109,096,179 (GRCm39) critical splice donor site probably null
R5014:Calr4 UTSW 4 109,092,994 (GRCm39) nonsense probably null
R5088:Calr4 UTSW 4 109,101,859 (GRCm39) intron probably benign
R5267:Calr4 UTSW 4 109,101,273 (GRCm39) missense probably damaging 1.00
R6175:Calr4 UTSW 4 109,101,442 (GRCm39) missense probably benign 0.03
R6262:Calr4 UTSW 4 109,108,564 (GRCm39) missense probably damaging 1.00
R6795:Calr4 UTSW 4 109,101,985 (GRCm39) missense probably damaging 1.00
R7099:Calr4 UTSW 4 109,099,426 (GRCm39) missense probably benign 0.01
R7202:Calr4 UTSW 4 109,101,254 (GRCm39) missense possibly damaging 0.94
R7576:Calr4 UTSW 4 109,096,161 (GRCm39) missense probably benign 0.37
R7661:Calr4 UTSW 4 109,110,951 (GRCm39) missense probably benign
Z1177:Calr4 UTSW 4 109,092,930 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- CCCGTAGAACTTAATTAGCAATGG -3'
(R):5'- GTTTTGTGGCGAGACTACCC -3'

Sequencing Primer
(F):5'- GCAATGGCAACTTGATTCATTTG -3'
(R):5'- ATTTAGCCCTAAGTGGCCG -3'
Posted On 2019-06-07