Incidental Mutation 'R0218:Dgcr2'
ID 33687
Institutional Source Beutler Lab
Gene Symbol Dgcr2
Ensembl Gene ENSMUSG00000003166
Gene Name DiGeorge syndrome critical region gene 2
Synonyms Dgsc, Dgcr2, Idd, 9930034O06Rik, Lan, Sez12, DGS-C
MMRRC Submission 038467-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0218 (G1)
Quality Score 163
Status Validated
Chromosome 16
Chromosomal Location 17658219-17709592 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 17667650 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 270 (C270R)
Ref Sequence ENSEMBL: ENSMUSP00000012152 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000012152] [ENSMUST00000066127] [ENSMUST00000117082] [ENSMUST00000117945] [ENSMUST00000150068] [ENSMUST00000155943]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000012152
AA Change: C270R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000012152
Gene: ENSMUSG00000003166
AA Change: C270R

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
LDLa 29 68 6.28e-11 SMART
CLECT 114 265 1.06e-14 SMART
VWC 270 331 1.42e-9 SMART
transmembrane domain 345 367 N/A INTRINSIC
low complexity region 369 377 N/A INTRINSIC
low complexity region 438 449 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000066127
SMART Domains Protein: ENSMUSP00000064603
Gene: ENSMUSG00000003166

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
LDLa 29 68 6.28e-11 SMART
CLECT 111 262 1.06e-14 SMART
transmembrane domain 274 296 N/A INTRINSIC
low complexity region 298 306 N/A INTRINSIC
low complexity region 367 378 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000117082
AA Change: C269R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113506
Gene: ENSMUSG00000003166
AA Change: C269R

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
LDLa 29 68 5.86e-11 SMART
CLECT 113 264 1.06e-14 SMART
VWC 269 330 1.42e-9 SMART
transmembrane domain 344 366 N/A INTRINSIC
low complexity region 368 376 N/A INTRINSIC
low complexity region 437 448 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000117945
AA Change: C267R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112783
Gene: ENSMUSG00000003166
AA Change: C267R

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
LDLa 29 68 6.28e-11 SMART
CLECT 111 262 1.06e-14 SMART
VWC 267 328 1.42e-9 SMART
transmembrane domain 342 364 N/A INTRINSIC
low complexity region 366 374 N/A INTRINSIC
low complexity region 435 446 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135229
Predicted Effect probably damaging
Transcript: ENSMUST00000150068
AA Change: C270R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000115071
Gene: ENSMUSG00000092470
AA Change: C270R

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
LDLa 29 68 6.28e-11 SMART
CLECT 114 265 1.06e-14 SMART
VWC 270 331 1.42e-9 SMART
transmembrane domain 345 367 N/A INTRINSIC
low complexity region 369 377 N/A INTRINSIC
low complexity region 438 449 N/A INTRINSIC
low complexity region 559 565 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155611
Predicted Effect probably damaging
Transcript: ENSMUST00000155943
AA Change: C47R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231306
Meta Mutation Damage Score 0.9555 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.7%
Validation Efficiency 98% (53/54)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Deletions of the 22q11.2 have been associated with a wide range of developmental defects (notably DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome and isolated conotruncal cardiac defects) classified under the acronym CATCH 22. The DGCR2 gene encodes a novel putative adhesion receptor protein, which could play a role in neural crest cells migration, a process which has been proposed to be altered in DiGeorge syndrome. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34l T G 8: 44,079,477 (GRCm39) Q249P probably benign Het
Adgrv1 C T 13: 81,255,017 (GRCm39) probably null Het
Ccdc110 A G 8: 46,387,761 (GRCm39) probably benign Het
Cd200r1 T A 16: 44,609,106 (GRCm39) probably benign Het
Cdkl1 A T 12: 69,836,809 (GRCm39) D40E probably benign Het
Cdx1 A G 18: 61,153,436 (GRCm39) probably benign Het
Cenpp T A 13: 49,801,108 (GRCm39) K103N possibly damaging Het
Cep162 A G 9: 87,093,862 (GRCm39) Y839H possibly damaging Het
Chac1 T A 2: 119,183,941 (GRCm39) L181* probably null Het
Ciapin1 G T 8: 95,554,938 (GRCm39) Q173K probably damaging Het
Cmklr2 T A 1: 63,222,690 (GRCm39) N182Y probably benign Het
Dlc1 A G 8: 37,317,383 (GRCm39) S431P probably benign Het
Efcab12 T C 6: 115,791,611 (GRCm39) probably benign Het
Ehbp1 A T 11: 22,181,992 (GRCm39) probably benign Het
Enpp3 A T 10: 24,652,767 (GRCm39) V730D possibly damaging Het
Fam174b A G 7: 73,390,512 (GRCm39) T88A probably benign Het
Fancl A G 11: 26,421,337 (GRCm39) K364E probably benign Het
Fbp2 A T 13: 63,001,862 (GRCm39) F118I probably damaging Het
Galc A G 12: 98,188,906 (GRCm39) Y402H probably damaging Het
Gga2 T C 7: 121,598,123 (GRCm39) N324D possibly damaging Het
Hc G T 2: 34,918,086 (GRCm39) F732L probably damaging Het
Heca T C 10: 17,791,463 (GRCm39) M198V probably benign Het
Herc6 C A 6: 57,596,586 (GRCm39) H509N probably benign Het
Irf2bpl A T 12: 86,929,398 (GRCm39) M425K probably benign Het
Mael C T 1: 166,066,159 (GRCm39) G26D probably damaging Het
Map1a A G 2: 121,135,906 (GRCm39) T2241A probably benign Het
Mcc C G 18: 44,652,583 (GRCm39) probably benign Het
Mdga2 A G 12: 66,701,894 (GRCm39) S505P probably damaging Het
Mdm1 A G 10: 117,992,783 (GRCm39) probably benign Het
Mex3b A T 7: 82,518,312 (GRCm39) E209V probably damaging Het
Mrgprx3-ps T C 7: 46,959,154 (GRCm39) E279G possibly damaging Het
Ms4a20 A T 19: 11,093,801 (GRCm39) Y10* probably null Het
Nfe2l1 A T 11: 96,718,439 (GRCm39) L32Q probably damaging Het
Npas1 C T 7: 16,195,818 (GRCm39) V285I probably benign Het
Or5e1 T A 7: 108,354,781 (GRCm39) C239* probably null Het
Or5h19 C T 16: 58,856,456 (GRCm39) V215I probably benign Het
Or9i14 T C 19: 13,792,342 (GRCm39) N204S probably benign Het
Osr1 A G 12: 9,629,639 (GRCm39) T171A probably benign Het
Ppp3cb A T 14: 20,574,044 (GRCm39) C265S probably damaging Het
Pramel27 A G 4: 143,578,401 (GRCm39) I220M probably damaging Het
Sephs1 A G 2: 4,904,371 (GRCm39) T250A probably benign Het
Simc1 T C 13: 54,674,417 (GRCm39) Y922H probably damaging Het
Slc25a39 A G 11: 102,297,056 (GRCm39) F56L probably benign Het
Smg8 A G 11: 86,976,948 (GRCm39) L211P probably damaging Het
Sncaip A G 18: 53,040,400 (GRCm39) S805G probably benign Het
Sra1 T C 18: 36,809,662 (GRCm39) probably benign Het
Tas2r104 T G 6: 131,662,055 (GRCm39) D218A probably damaging Het
Unc45b A G 11: 82,802,686 (GRCm39) probably benign Het
Unc79 A G 12: 103,075,040 (GRCm39) probably null Het
Washc2 T A 6: 116,225,007 (GRCm39) L785* probably null Het
Zfp30 A G 7: 29,493,063 (GRCm39) E439G probably damaging Het
Zfp518a A G 19: 40,901,072 (GRCm39) T334A probably benign Het
Other mutations in Dgcr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
capitol UTSW 16 17,662,944 (GRCm39) nonsense probably null
R0135:Dgcr2 UTSW 16 17,676,306 (GRCm39) missense probably damaging 0.99
R0627:Dgcr2 UTSW 16 17,661,872 (GRCm39) missense probably damaging 1.00
R1450:Dgcr2 UTSW 16 17,674,678 (GRCm39) missense possibly damaging 0.71
R1769:Dgcr2 UTSW 16 17,675,115 (GRCm39) splice site probably benign
R1836:Dgcr2 UTSW 16 17,667,584 (GRCm39) missense probably damaging 1.00
R2152:Dgcr2 UTSW 16 17,709,351 (GRCm39) splice site probably null
R2259:Dgcr2 UTSW 16 17,662,841 (GRCm39) splice site probably null
R4815:Dgcr2 UTSW 16 17,676,483 (GRCm39) intron probably benign
R4829:Dgcr2 UTSW 16 17,660,617 (GRCm39) missense possibly damaging 0.90
R5372:Dgcr2 UTSW 16 17,690,508 (GRCm39) missense probably benign 0.00
R5931:Dgcr2 UTSW 16 17,675,173 (GRCm39) missense possibly damaging 0.71
R7008:Dgcr2 UTSW 16 17,662,865 (GRCm39) missense probably damaging 1.00
R7285:Dgcr2 UTSW 16 17,662,944 (GRCm39) nonsense probably null
R7915:Dgcr2 UTSW 16 17,677,266 (GRCm39) critical splice donor site probably null
R8099:Dgcr2 UTSW 16 17,667,633 (GRCm39) missense probably damaging 1.00
R8120:Dgcr2 UTSW 16 17,675,183 (GRCm39) nonsense probably null
R8307:Dgcr2 UTSW 16 17,676,242 (GRCm39) missense probably benign 0.00
R8308:Dgcr2 UTSW 16 17,676,242 (GRCm39) missense probably benign 0.00
R8837:Dgcr2 UTSW 16 17,667,630 (GRCm39) missense possibly damaging 0.69
R8851:Dgcr2 UTSW 16 17,690,507 (GRCm39) missense possibly damaging 0.46
Predicted Primers PCR Primer
(F):5'- TGCTGTGTCAGGAACAACAAGCTC -3'
(R):5'- GGACCTTTACCTTGAAACCTGCCG -3'

Sequencing Primer
(F):5'- GGTCCAGACACATGAATTTGC -3'
(R):5'- CCGTTCCTATTCAGAGGCAGTG -3'
Posted On 2013-05-09