Incidental Mutation 'R1779:Calcrl'
ID 197303
Institutional Source Beutler Lab
Gene Symbol Calcrl
Ensembl Gene ENSMUSG00000059588
Gene Name calcitonin receptor-like
Synonyms CRLR
MMRRC Submission 039810-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1779 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 84160970-84255755 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 84181629 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 173 (I173T)
Ref Sequence ENSEMBL: ENSMUSP00000097527 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074262] [ENSMUST00000099944]
AlphaFold Q9R1W5
Predicted Effect probably damaging
Transcript: ENSMUST00000074262
AA Change: I173T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000073875
Gene: ENSMUSG00000059588
AA Change: I173T

DomainStartEndE-ValueType
HormR 60 135 1.4e-26 SMART
Pfam:7tm_2 137 379 5.7e-80 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000099944
AA Change: I173T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000097527
Gene: ENSMUSG00000059588
AA Change: I173T

DomainStartEndE-ValueType
HormR 60 135 1.4e-26 SMART
Pfam:7tm_2 137 379 3.2e-80 PFAM
Meta Mutation Damage Score 0.3265 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.5%
  • 20x: 93.0%
Validation Efficiency 97% (101/104)
MGI Phenotype PHENOTYPE: Homozygous mutation of this gene results in lethality between E13.5-E14.5, hydrops fetalis and cardiovascular defects such as thin vascular smooth muscle walls and small, disorganized hearts resulting from a decrease in cell proliferation and an increasein apoptosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 103 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik T G 3: 124,200,163 (GRCm39) L476F probably damaging Het
4930432E11Rik A T 7: 29,278,591 (GRCm39) noncoding transcript Het
A930011G23Rik A T 5: 99,370,897 (GRCm39) probably benign Het
Abcd3 A G 3: 121,575,612 (GRCm39) Y217H probably damaging Het
Abraxas1 A T 5: 100,965,822 (GRCm39) probably benign Het
Acsbg1 T C 9: 54,523,346 (GRCm39) Y427C probably damaging Het
Acsbg3 T A 17: 57,192,169 (GRCm39) Y577* probably null Het
Adam10 T A 9: 70,683,651 (GRCm39) probably benign Het
Adam24 G A 8: 41,134,004 (GRCm39) V491I possibly damaging Het
Adamts2 T G 11: 50,647,524 (GRCm39) V299G probably damaging Het
Adh7 A G 3: 137,929,752 (GRCm39) T143A probably damaging Het
Ahcyl1 A G 3: 107,581,419 (GRCm39) S81P probably benign Het
Arhgap20 C A 9: 51,761,215 (GRCm39) T986K probably benign Het
Atp13a5 A T 16: 29,133,478 (GRCm39) I391N possibly damaging Het
Atp6v0a1 C A 11: 100,917,511 (GRCm39) A143E probably benign Het
Casz1 A G 4: 149,017,394 (GRCm39) T228A probably benign Het
Cckar A G 5: 53,857,321 (GRCm39) I292T probably damaging Het
Ccn5 G A 2: 163,670,906 (GRCm39) V138M probably damaging Het
Cfhr2 T A 1: 139,786,383 (GRCm39) probably null Het
Chkb T C 15: 89,313,260 (GRCm39) I109V possibly damaging Het
Clec2i T C 6: 128,865,069 (GRCm39) probably null Het
Clec4a4 T A 6: 123,000,934 (GRCm39) W216R probably damaging Het
Cntnap1 A C 11: 101,077,337 (GRCm39) I1000L probably damaging Het
Cp C A 3: 20,011,549 (GRCm39) D34E possibly damaging Het
Cse1l T C 2: 166,782,044 (GRCm39) probably null Het
Dennd3 T C 15: 73,394,357 (GRCm39) probably null Het
Dnah7a A G 1: 53,616,382 (GRCm39) V1193A probably benign Het
Eaf2 A G 16: 36,630,832 (GRCm39) probably null Het
Efcab3 T A 11: 104,611,765 (GRCm39) S536T probably benign Het
Ephb2 T C 4: 136,421,136 (GRCm39) T405A possibly damaging Het
Fam117a G A 11: 95,269,779 (GRCm39) V348M probably damaging Het
Fh1 T C 1: 175,428,990 (GRCm39) *167W probably null Het
Fmo9 T A 1: 166,490,868 (GRCm39) I486F probably benign Het
Gabbr1 T A 17: 37,365,771 (GRCm39) I150N probably damaging Het
Gfpt1 T C 6: 87,054,179 (GRCm39) V478A possibly damaging Het
Gm2663 A T 6: 40,974,894 (GRCm39) V59E probably damaging Het
Gm4868 T A 5: 125,925,176 (GRCm39) noncoding transcript Het
Heatr4 T A 12: 84,026,934 (GRCm39) T108S probably benign Het
Hells G T 19: 38,935,286 (GRCm39) A319S probably benign Het
Helz2 A G 2: 180,876,780 (GRCm39) V1238A probably benign Het
Helz2 T A 2: 180,880,252 (GRCm39) Q488L possibly damaging Het
Hkdc1 A G 10: 62,227,162 (GRCm39) F765S probably damaging Het
Hspg2 T A 4: 137,245,820 (GRCm39) W938R probably damaging Het
Itpr2 G A 6: 146,060,399 (GRCm39) R2473* probably null Het
Kctd1 C T 18: 15,194,839 (GRCm39) V595I probably benign Het
Krt7 A G 15: 101,321,290 (GRCm39) Y369C probably damaging Het
Krt72 T C 15: 101,689,364 (GRCm39) T323A probably benign Het
Krt76 A G 15: 101,801,122 (GRCm39) L58P unknown Het
Liph C A 16: 21,786,800 (GRCm39) R272L probably benign Het
Lrrc9 A T 12: 72,502,772 (GRCm39) K248* probably null Het
Mei4 T A 9: 81,809,195 (GRCm39) S93T probably damaging Het
Mgll T A 6: 88,790,930 (GRCm39) Y183* probably null Het
Myo5b A G 18: 74,875,218 (GRCm39) M1541V probably benign Het
Napg A G 18: 63,115,762 (GRCm39) E66G probably benign Het
Npr3 T C 15: 11,851,572 (GRCm39) D406G probably damaging Het
Nr2c2 A G 6: 92,136,224 (GRCm39) T355A possibly damaging Het
Or13j1 G A 4: 43,706,041 (GRCm39) H176Y probably damaging Het
Or4a71 A T 2: 89,357,989 (GRCm39) I255K probably benign Het
Or51m1 G T 7: 103,578,668 (GRCm39) V213L probably benign Het
Or51v8 A G 7: 103,319,845 (GRCm39) I131T probably benign Het
Or52z13 A T 7: 103,247,107 (GRCm39) I195F probably damaging Het
Or5b107 T C 19: 13,142,404 (GRCm39) Y9H probably benign Het
Or8d1 A G 9: 38,766,846 (GRCm39) M163V possibly damaging Het
Orai2 T C 5: 136,179,793 (GRCm39) E80G probably damaging Het
Pcdhb14 T A 18: 37,582,535 (GRCm39) V547E probably damaging Het
Pcdhb15 T C 18: 37,609,084 (GRCm39) I772T possibly damaging Het
Pcnt T C 10: 76,244,630 (GRCm39) Q1150R probably damaging Het
Pdcd6 A G 13: 74,453,700 (GRCm39) I146T probably damaging Het
Phldb2 T A 16: 45,621,988 (GRCm39) D664V probably damaging Het
Pik3ap1 A T 19: 41,320,673 (GRCm39) V182E probably damaging Het
Pip4k2a A G 2: 18,852,433 (GRCm39) V283A probably benign Het
Pkdrej A G 15: 85,705,372 (GRCm39) V188A possibly damaging Het
Pnpla6 T C 8: 3,591,404 (GRCm39) W1151R probably damaging Het
Ppp1r14c A G 10: 3,316,890 (GRCm39) Y75C probably damaging Het
Prl2b1 C T 13: 27,567,452 (GRCm39) D224N probably benign Het
Ptgis A G 2: 167,056,778 (GRCm39) S270P probably benign Het
Rgs11 C A 17: 26,429,640 (GRCm39) A446D probably damaging Het
Rims2 A G 15: 39,545,098 (GRCm39) T1531A probably damaging Het
Sbno1 A T 5: 124,526,580 (GRCm39) probably benign Het
Scarb2 C G 5: 92,596,416 (GRCm39) M409I probably benign Het
Scube3 C T 17: 28,387,353 (GRCm39) probably benign Het
Slc44a4 T C 17: 35,140,901 (GRCm39) I180T probably damaging Het
Slc9a2 T C 1: 40,781,803 (GRCm39) M344T probably damaging Het
Smc3 A T 19: 53,627,800 (GRCm39) T860S probably benign Het
Snrpa A G 7: 26,891,174 (GRCm39) I99T probably benign Het
Sorcs1 A G 19: 50,163,481 (GRCm39) probably benign Het
Sorl1 C T 9: 41,902,778 (GRCm39) probably null Het
Suds3 T C 5: 117,243,309 (GRCm39) K143R probably benign Het
Supt20 A T 3: 54,622,164 (GRCm39) M424L probably benign Het
Tgtp2 T C 11: 48,949,751 (GRCm39) M274V probably benign Het
Tmem158 T A 9: 123,088,974 (GRCm39) M213L probably benign Het
Tnks C A 8: 35,324,672 (GRCm39) R639L probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Trmt10c A C 16: 55,854,938 (GRCm39) N232K possibly damaging Het
Trpm6 C T 19: 18,833,581 (GRCm39) R1587W probably damaging Het
Trrap G A 5: 144,765,400 (GRCm39) V2539I probably benign Het
Tsg101 A G 7: 46,556,835 (GRCm39) S115P probably benign Het
Ttll13 G T 7: 79,910,256 (GRCm39) V800L probably benign Het
Vmn1r57 A G 7: 5,223,576 (GRCm39) T34A possibly damaging Het
Vmn2r118 T A 17: 55,918,530 (GRCm39) T121S probably benign Het
Wdr35 A G 12: 9,035,772 (GRCm39) I238M possibly damaging Het
Zfp81 T A 17: 33,554,080 (GRCm39) T245S probably benign Het
Zfyve26 G T 12: 79,325,237 (GRCm39) P824Q probably damaging Het
Other mutations in Calcrl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00983:Calcrl APN 2 84,200,798 (GRCm39) missense probably benign 0.05
IGL01395:Calcrl APN 2 84,198,919 (GRCm39) missense probably benign 0.25
IGL01672:Calcrl APN 2 84,175,414 (GRCm39) missense probably damaging 1.00
IGL01738:Calcrl APN 2 84,200,793 (GRCm39) missense probably benign 0.00
IGL01773:Calcrl APN 2 84,200,787 (GRCm39) missense probably benign
IGL02007:Calcrl APN 2 84,205,668 (GRCm39) missense probably benign
IGL02254:Calcrl APN 2 84,178,552 (GRCm39) missense probably damaging 1.00
IGL02887:Calcrl APN 2 84,169,586 (GRCm39) missense probably benign 0.04
R0008:Calcrl UTSW 2 84,203,618 (GRCm39) missense probably benign 0.04
R0008:Calcrl UTSW 2 84,203,618 (GRCm39) missense probably benign 0.04
R0485:Calcrl UTSW 2 84,200,435 (GRCm39) missense probably benign 0.01
R1579:Calcrl UTSW 2 84,163,881 (GRCm39) missense probably benign 0.00
R1640:Calcrl UTSW 2 84,164,021 (GRCm39) missense probably damaging 0.98
R1694:Calcrl UTSW 2 84,169,631 (GRCm39) missense probably damaging 1.00
R1731:Calcrl UTSW 2 84,175,512 (GRCm39) critical splice donor site probably null
R1992:Calcrl UTSW 2 84,200,855 (GRCm39) missense probably damaging 0.98
R2262:Calcrl UTSW 2 84,175,517 (GRCm39) missense probably damaging 1.00
R2763:Calcrl UTSW 2 84,200,847 (GRCm39) missense probably damaging 0.99
R3903:Calcrl UTSW 2 84,198,986 (GRCm39) splice site probably benign
R4838:Calcrl UTSW 2 84,181,549 (GRCm39) missense probably damaging 0.99
R4901:Calcrl UTSW 2 84,163,857 (GRCm39) missense probably benign 0.00
R4997:Calcrl UTSW 2 84,181,592 (GRCm39) nonsense probably null
R4998:Calcrl UTSW 2 84,169,658 (GRCm39) missense probably damaging 1.00
R5791:Calcrl UTSW 2 84,181,609 (GRCm39) missense probably damaging 1.00
R5887:Calcrl UTSW 2 84,200,841 (GRCm39) missense probably damaging 1.00
R6046:Calcrl UTSW 2 84,205,658 (GRCm39) missense probably benign 0.00
R6207:Calcrl UTSW 2 84,163,874 (GRCm39) missense probably benign 0.00
R6959:Calcrl UTSW 2 84,200,428 (GRCm39) missense possibly damaging 0.76
R6972:Calcrl UTSW 2 84,198,922 (GRCm39) missense probably benign
R7522:Calcrl UTSW 2 84,203,708 (GRCm39) missense probably benign
R7653:Calcrl UTSW 2 84,175,529 (GRCm39) nonsense probably null
R7911:Calcrl UTSW 2 84,181,575 (GRCm39) missense probably damaging 1.00
R8082:Calcrl UTSW 2 84,200,786 (GRCm39) missense possibly damaging 0.56
R8110:Calcrl UTSW 2 84,169,683 (GRCm39) missense probably damaging 1.00
R8152:Calcrl UTSW 2 84,169,593 (GRCm39) missense possibly damaging 0.63
R8753:Calcrl UTSW 2 84,178,661 (GRCm39) missense probably benign 0.02
R8753:Calcrl UTSW 2 84,178,659 (GRCm39) missense probably benign 0.11
R8903:Calcrl UTSW 2 84,203,729 (GRCm39) critical splice acceptor site probably null
R9265:Calcrl UTSW 2 84,200,400 (GRCm39) missense possibly damaging 0.93
R9276:Calcrl UTSW 2 84,205,643 (GRCm39) missense probably benign
R9773:Calcrl UTSW 2 84,200,462 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CAGCATCAGGAGTCCATAGCCAATG -3'
(R):5'- ATGCAGAGTTTGCTGAGGCAGGTC -3'

Sequencing Primer
(F):5'- GGCTGCAATACAGCTATGTTTC -3'
(R):5'- AAAGCAACTCATTTCCATCTGG -3'
Posted On 2014-05-23