Incidental Mutation 'R4561:Calr4'
ID 343083
Institutional Source Beutler Lab
Gene Symbol Calr4
Ensembl Gene ENSMUSG00000028558
Gene Name calreticulin 4
Synonyms 4933403L16Rik
MMRRC Submission 041786-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.103) question?
Stock # R4561 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 109091682-109111768 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 109103379 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 163 (N163S)
Ref Sequence ENSEMBL: ENSMUSP00000102242 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030285] [ENSMUST00000106628] [ENSMUST00000106629] [ENSMUST00000106631]
AlphaFold Q3TQS0
Predicted Effect probably damaging
Transcript: ENSMUST00000030285
AA Change: N270S

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000030285
Gene: ENSMUSG00000028558
AA Change: N270S

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 damaging
Transcript: ENSMUST00000106628
AA Change: N163S

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000102239
Gene: ENSMUSG00000028558
AA Change: N163S

DomainStartEndE-ValueType
Pfam:Calreticulin 1 211 6.4e-77 PFAM
coiled coil region 229 309 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000106629
AA Change: N163S

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000102240
Gene: ENSMUSG00000028558
AA Change: N163S

DomainStartEndE-ValueType
Pfam:Calreticulin 1 211 6.4e-77 PFAM
coiled coil region 229 309 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000106631
AA Change: N163S

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000102242
Gene: ENSMUSG00000028558
AA Change: N163S

DomainStartEndE-ValueType
Pfam:Calreticulin 1 211 6.4e-77 PFAM
coiled coil region 229 309 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141555
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank3 T C 10: 69,837,848 (GRCm39) S1601P probably damaging Het
Arnt A G 3: 95,359,924 (GRCm39) N56D probably damaging Het
Atad5 A G 11: 79,986,715 (GRCm39) T601A probably benign Het
Cenpc1 C A 5: 86,195,491 (GRCm39) A93S probably damaging Het
Cep135 C T 5: 76,786,040 (GRCm39) H1048Y possibly damaging Het
Ctnna2 A G 6: 77,613,696 (GRCm39) probably null Het
Ddx60 T C 8: 62,395,495 (GRCm39) L144P probably damaging Het
Dera A T 6: 137,757,736 (GRCm39) T96S possibly damaging Het
Dock9 T A 14: 121,796,419 (GRCm39) M1853L probably benign Het
Erbb4 G A 1: 68,383,080 (GRCm39) R306* probably null Het
Glyat G T 19: 12,628,644 (GRCm39) L146F possibly damaging Het
Grk4 C A 5: 34,852,157 (GRCm39) Q134K probably benign Het
Hkdc1 T C 10: 62,245,618 (GRCm39) Q181R probably benign Het
Huwe1 A T X: 150,646,955 (GRCm39) I682F probably damaging Het
Ipo4 C T 14: 55,867,546 (GRCm39) probably benign Het
Ivl CCTGCTGCTGCT CCTGCTGCTGCTGCT 3: 92,479,262 (GRCm39) probably benign Het
Kcnd2 A G 6: 21,216,395 (GRCm39) Q33R probably benign Het
Kdm7a C T 6: 39,129,757 (GRCm39) R473Q probably damaging Het
Klhl30 A T 1: 91,288,753 (GRCm39) H504L probably damaging Het
Map4 A G 9: 109,881,439 (GRCm39) Y101C possibly damaging Het
Mfn2 C A 4: 147,961,492 (GRCm39) R707L probably damaging Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Myof T C 19: 37,911,438 (GRCm39) N1511D probably benign Het
Neb A T 2: 52,176,167 (GRCm39) Y1431N probably damaging Het
Nlrc5 A G 8: 95,203,774 (GRCm39) T625A probably damaging Het
Or5g27 G T 2: 85,409,964 (GRCm39) C127F probably damaging Het
Pax2 A G 19: 44,824,402 (GRCm39) Y374C unknown Het
Pde8a T A 7: 80,958,568 (GRCm39) Y315* probably null Het
Pkhd1 A T 1: 20,604,943 (GRCm39) L1124Q possibly damaging Het
Ppp1r3a A G 6: 14,754,681 (GRCm39) F189L probably damaging Het
Prex2 G A 1: 11,254,769 (GRCm39) probably null Het
Robo4 CGG CG 9: 37,322,786 (GRCm39) probably null Het
Slc22a22 T A 15: 57,126,781 (GRCm39) Q77L probably damaging Het
Slc24a2 A T 4: 87,145,634 (GRCm39) V140D probably damaging Het
Slc35g2 C A 9: 100,435,287 (GRCm39) R128L probably damaging Het
Slco1b2 A G 6: 141,616,893 (GRCm39) T409A probably benign Het
Spag7 T C 11: 70,555,816 (GRCm39) I80M probably damaging Het
Srgap3 A G 6: 112,758,015 (GRCm39) M164T probably damaging Het
Sspo A T 6: 48,452,468 (GRCm39) probably null Het
Tcte2 T C 17: 13,942,864 (GRCm39) probably benign Het
Tmem117 A T 15: 94,992,677 (GRCm39) M446L probably benign Het
Tmtc4 T C 14: 123,200,710 (GRCm39) T194A probably benign Het
Ttc21b T C 2: 66,016,562 (GRCm39) Y1269C probably damaging Het
Zfp236 A T 18: 82,638,531 (GRCm39) I1363N probably damaging Het
Zfp760 T A 17: 21,942,648 (GRCm39) S608T probably benign Het
Zfp947 G T 17: 22,365,124 (GRCm39) Y183* probably null 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
PIT4576001:Calr4 UTSW 4 109,093,053 (GRCm39) missense possibly damaging 0.82
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
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'- GGAACTTGGAAGAGTCTTATGCC -3'
(R):5'- GTCTCTAACGTCAGGTTGGG -3'

Sequencing Primer
(F):5'- TCTGTACAGCTCTGTAGACCAGG -3'
(R):5'- CTAACGTCAGGTTGGGGCTTG -3'
Posted On 2015-09-24