Incidental Mutation 'R6175:Calr4'
ID487671
Institutional Source Beutler Lab
Gene Symbol Calr4
Ensembl Gene ENSMUSG00000028558
Gene Namecalreticulin 4
Synonyms4933403L16Rik
MMRRC Submission 044317-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.156) question?
Stock #R6175 (G1)
Quality Score225.009
Status Validated
Chromosome4
Chromosomal Location109234485-109254571 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 109244245 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 108 (D108G)
Ref Sequence ENSEMBL: ENSMUSP00000102242 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030285] [ENSMUST00000106628] [ENSMUST00000106629] [ENSMUST00000106631]
Predicted Effect probably benign
Transcript: ENSMUST00000030285
AA Change: D215G

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000030285
Gene: ENSMUSG00000028558
AA Change: D215G

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
AA Change: D108G

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000102239
Gene: ENSMUSG00000028558
AA Change: D108G

DomainStartEndE-ValueType
Pfam:Calreticulin 1 211 6.4e-77 PFAM
coiled coil region 229 309 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106629
AA Change: D108G

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000102240
Gene: ENSMUSG00000028558
AA Change: D108G

DomainStartEndE-ValueType
Pfam:Calreticulin 1 211 6.4e-77 PFAM
coiled coil region 229 309 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106631
AA Change: D108G

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000102242
Gene: ENSMUSG00000028558
AA Change: D108G

DomainStartEndE-ValueType
Pfam:Calreticulin 1 211 6.4e-77 PFAM
coiled coil region 229 309 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141555
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 93.2%
Validation Efficiency 97% (85/88)
Allele List at MGI
Other mutations in this stock
Total: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik T C 10: 79,066,614 K623E probably damaging Het
A530064D06Rik T A 17: 48,152,848 S227C possibly damaging Het
Adam30 A T 3: 98,162,950 I700F probably damaging Het
Adam5 A T 8: 24,786,151 M500K probably benign Het
Adgb A T 10: 10,398,943 S755T possibly damaging Het
Adgrv1 C T 13: 81,386,005 G5819D probably damaging Het
Ank3 T A 10: 69,927,727 Y17N probably damaging Het
Ano2 A T 6: 125,992,955 M745L probably benign Het
Arap2 A G 5: 62,714,731 probably null Het
Atg2a A T 19: 6,241,729 probably benign Het
AU021092 G T 16: 5,220,448 probably null Het
Bbs1 A T 19: 4,890,721 L578Q probably damaging Het
Brd9 A T 13: 73,960,314 E589D probably damaging Het
Ccdc82 A G 9: 13,272,479 D429G probably damaging Het
Cdh22 G T 2: 165,146,630 N268K probably damaging Het
Ceacam12 G A 7: 18,067,387 G97D probably damaging Het
Clcn1 A G 6: 42,314,162 D990G probably damaging Het
Cyp2c40 T C 19: 39,812,560 T84A probably benign Het
Dnah7a G A 1: 53,433,022 P3529S probably damaging Het
Dnah8 G A 17: 30,748,568 D2585N probably benign Het
Efna3 GAGCAGCAGCAGCAGCAGCAGC GAGCAGCAGCAGCAGCAGC 3: 89,322,798 probably benign Het
Ehd2 G A 7: 15,963,464 Q4* probably null Het
Eml5 A G 12: 98,794,456 V1726A possibly damaging Het
Esam A G 9: 37,528,248 T10A probably benign Het
Fam19a1 A G 6: 96,115,740 H35R probably benign Het
Fbxl6 A G 15: 76,538,433 L95P probably benign Het
Fbxw18 T A 9: 109,676,879 L441F probably damaging Het
Fbxw4 A G 19: 45,636,327 S73P probably benign Het
Fndc1 T A 17: 7,772,647 H739L unknown Het
Foxp1 G A 6: 98,966,076 T237I probably damaging Het
Gm13212 A T 4: 145,624,241 probably benign Het
Gm4969 C A 7: 19,100,889 probably benign Het
Greb1 A T 12: 16,674,770 I1801N probably damaging Het
Hjurp GT GTT 1: 88,266,524 probably null Het
Hoxa13 G T 6: 52,259,928 N281K probably damaging Het
Hspg2 A G 4: 137,569,518 T4328A probably damaging Het
Htr2a C G 14: 74,645,034 Y153* probably null Het
Iglv1 C A 16: 19,085,094 A92S probably damaging Het
Itih1 A G 14: 30,931,195 S759P probably damaging Het
Kctd1 G T 18: 14,969,631 S831* probably null Het
Kif20a T A 18: 34,628,146 S265T probably damaging Het
Kif22 T A 7: 127,031,056 E436V possibly damaging Het
Kif27 A G 13: 58,311,237 W927R probably damaging Het
Lcorl G A 5: 45,776,490 P66L probably damaging Het
Lct A G 1: 128,327,714 L197P probably damaging Het
Lefty1 T C 1: 180,935,149 S14P unknown Het
Lnp1 A G 16: 56,917,492 S78P possibly damaging Het
Map3k19 A T 1: 127,822,832 H927Q probably benign Het
Mta3 A G 17: 83,791,793 T430A probably benign Het
Muc2 G T 7: 141,696,632 C627F probably damaging Het
Myh13 A G 11: 67,354,762 D1076G probably benign Het
Nck2 T A 1: 43,533,569 M1K probably null Het
Nipal1 A G 5: 72,663,555 N131S probably damaging Het
Nlrp9c T C 7: 26,378,001 probably null Het
Nr2f2 A G 7: 70,358,198 S179P probably damaging Het
Olfr1013 A T 2: 85,770,308 N169I probably benign Het
Olfr345 A G 2: 36,640,051 D4G probably benign Het
Olfr50 A T 2: 36,793,968 H244L probably damaging Het
Oxt G T 2: 130,576,243 probably benign Het
Pank2 T A 2: 131,280,261 Y235* probably null Het
Pear1 A G 3: 87,752,133 L798P possibly damaging Het
Pex14 T C 4: 148,961,699 H258R probably benign Het
Pmpcb A G 5: 21,757,033 I487V probably benign Het
Ppie T C 4: 123,137,569 E44G probably benign Het
Ppp1r9a A T 6: 4,905,639 R65* probably null Het
Ralgapb T C 2: 158,446,155 S371P probably damaging Het
Ros1 T C 10: 52,101,785 H1455R probably benign Het
Sacs C A 14: 61,212,826 T4107K possibly damaging Het
Sec24a G A 11: 51,731,891 T386M probably damaging Het
Slc10a4 A T 5: 73,012,250 Y207F possibly damaging Het
Slc30a10 T C 1: 185,455,311 L83P probably damaging Het
Slc38a9 T A 13: 112,703,559 L324* probably null Het
Slc7a9 A T 7: 35,465,852 Q474L probably damaging Het
Smc5 C A 19: 23,214,170 V875L possibly damaging Het
Snap91 T C 9: 86,825,000 R246G probably damaging Het
Sned1 A G 1: 93,275,474 probably null Het
Spink14 G A 18: 44,031,871 G85E probably benign Het
Srsf11 C T 3: 158,023,344 probably benign Het
St13 A G 15: 81,399,305 probably null Het
Stk10 A G 11: 32,603,761 M593V possibly damaging Het
Tex21 C A 12: 76,198,933 A530S probably benign Het
Tln2 T A 9: 67,224,081 K1394N probably damaging Het
Trhr2 C A 8: 122,357,379 R294L probably damaging Het
Unc79 A T 12: 103,183,449 I2408F probably damaging Het
Wdr24 T C 17: 25,826,578 L429P probably damaging Het
Wwp2 T A 8: 107,483,407 I139N possibly damaging Het
Zfp111 G A 7: 24,198,129 R686C unknown Het
Zyg11a A G 4: 108,189,681 V532A probably benign Het
Other mutations in Calr4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00229:Calr4 APN 4 109244115 missense probably damaging 1.00
IGL01392:Calr4 APN 4 109253874 missense probably benign 0.41
IGL01676:Calr4 APN 4 109244250 missense probably damaging 0.99
IGL02587:Calr4 APN 4 109238937 missense possibly damaging 0.76
PIT4576001:Calr4 UTSW 4 109235856 missense possibly damaging 0.82
R0525:Calr4 UTSW 4 109242264 splice site probably benign
R1444:Calr4 UTSW 4 109246241 missense possibly damaging 0.76
R1899:Calr4 UTSW 4 109246293 critical splice donor site probably null
R4561:Calr4 UTSW 4 109246182 missense probably damaging 0.97
R5001:Calr4 UTSW 4 109238982 critical splice donor site probably null
R5014:Calr4 UTSW 4 109235797 nonsense probably null
R5088:Calr4 UTSW 4 109244662 intron probably benign
R5267:Calr4 UTSW 4 109244076 missense probably damaging 1.00
R6262:Calr4 UTSW 4 109251367 missense probably damaging 1.00
R6795:Calr4 UTSW 4 109244788 missense probably damaging 1.00
R7099:Calr4 UTSW 4 109242229 missense probably benign 0.01
R7202:Calr4 UTSW 4 109244057 missense possibly damaging 0.94
R7576:Calr4 UTSW 4 109238964 missense probably benign 0.37
R7661:Calr4 UTSW 4 109253754 missense probably benign
Predicted Primers PCR Primer
(F):5'- AGATCTATGATCGCCCTATACGG -3'
(R):5'- GTGATTTGCTCCCACACAGTC -3'

Sequencing Primer
(F):5'- CGGGATTGAAATAGTAACCATTTCC -3'
(R):5'- CCACACAGTCTTTACCTGGAG -3'
Posted On2017-10-10