Incidental Mutation 'R4342:Cd38'
ID 324163
Institutional Source Beutler Lab
Gene Symbol Cd38
Ensembl Gene ENSMUSG00000029084
Gene Name CD38 antigen
Synonyms Cd38-rs1
MMRRC Submission 041100-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4342 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 44026153-44069714 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 44026431 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 72 (I72L)
Ref Sequence ENSEMBL: ENSMUSP00000030964 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030964]
AlphaFold P56528
PDB Structure Crystal structure of the truncated extracellular domain of mouse CD38 [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000030964
AA Change: I72L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000030964
Gene: ENSMUSG00000029084
AA Change: I72L

DomainStartEndE-ValueType
transmembrane domain 23 45 N/A INTRINSIC
Pfam:Rib_hydrolayse 59 300 2.9e-104 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196600
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 99% (68/69)
MGI Phenotype FUNCTION: This gene encodes a non-lineage-restricted, type II transmembrane glycoprotein that synthesizes and hydrolyzes cyclic adenosine 5'-diphosphate-ribose, an intracellular calcium ion mobilizing messenger. The release of soluble protein and the ability of membrane-bound protein to become internalized indicate both extracellular and intracellular functions for the protein. This protein has an N-terminal cytoplasmic tail, a single membrane-spanning domain, and a C-terminal extracellular region with four N-glycosylation sites. Knockout mice deficient for this gene display altered humoral immune responses. In addition, knockout mice exhibit higher locomotor activity and defects in nurturing and social behaviors. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygous mutation of this gene has resulted in an impaired antibody response to T cell dependent antigens and disrupted glucose-dependent insulin secretion. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars2 T C 17: 45,827,421 (GRCm39) C488R probably benign Het
Adamts19 A T 18: 59,075,572 (GRCm39) H489L probably damaging Het
Ahnak T C 19: 8,989,447 (GRCm39) V3577A possibly damaging Het
Ajm1 A G 2: 25,469,120 (GRCm39) Y264H possibly damaging Het
Arhgap44 G A 11: 64,902,887 (GRCm39) R401* probably null Het
Cbx3-ps2 T C 13: 65,707,502 (GRCm39) noncoding transcript Het
Ccdc174 T A 6: 91,862,337 (GRCm39) L86* probably null Het
Cers4 T C 8: 4,571,223 (GRCm39) L264P probably damaging Het
Cldn23 A G 8: 36,292,652 (GRCm39) S279P probably benign Het
Cth T A 3: 157,630,613 (GRCm39) T19S probably damaging Het
Dnajc22 T A 15: 99,002,345 (GRCm39) L330* probably null Het
Epas1 G A 17: 87,131,228 (GRCm39) C336Y probably damaging Het
Evi5l A C 8: 4,233,492 (GRCm39) probably benign Het
Fbxl2 A T 9: 113,814,374 (GRCm39) H272Q probably benign Het
Fgd3 C T 13: 49,427,185 (GRCm39) probably null Het
Fhdc1 C A 3: 84,352,133 (GRCm39) V1031F probably benign Het
Fscn1 T C 5: 142,957,776 (GRCm39) Y308H probably damaging Het
Garin3 A G 11: 46,298,043 (GRCm39) D449G possibly damaging Het
Gm5878 G A 6: 85,102,633 (GRCm39) R31* probably null Het
Gpatch2l T C 12: 86,307,453 (GRCm39) V277A probably benign Het
Greb1l T A 18: 10,544,561 (GRCm39) M1385K probably benign Het
Grin2a A G 16: 9,471,453 (GRCm39) I605T possibly damaging Het
Hoxc11 C T 15: 102,863,106 (GRCm39) S49F probably damaging Het
Igf2r C T 17: 12,928,398 (GRCm39) E982K possibly damaging Het
Ighv10-3 A T 12: 114,487,124 (GRCm39) M99K possibly damaging Het
Itgb4 A T 11: 115,879,555 (GRCm39) T614S probably benign Het
Kcnv1 G A 15: 44,977,840 (GRCm39) T66M probably damaging Het
Mast4 A G 13: 102,910,756 (GRCm39) V461A probably damaging Het
Mcts2 G A 2: 152,529,584 (GRCm39) V132M probably damaging Het
Mical3 C A 6: 120,911,799 (GRCm39) E1083* probably null Het
Nbeal2 A G 9: 110,460,861 (GRCm39) probably benign Het
Nek4 T C 14: 30,675,863 (GRCm39) V66A probably damaging Het
Nfasc A G 1: 132,559,443 (GRCm39) F229S probably damaging Het
Nhsl1 T C 10: 18,402,437 (GRCm39) F1221S probably damaging Het
Nr1d1 T G 11: 98,662,640 (GRCm39) K118Q probably damaging Het
Ntaq1 T C 15: 58,016,110 (GRCm39) S120P probably benign Het
Ntm T C 9: 29,020,727 (GRCm39) E164G probably damaging Het
Or51a7 A G 7: 102,615,231 (GRCm39) N308S probably benign Het
Parp1 G T 1: 180,414,894 (GRCm39) A411S probably benign Het
Pds5b A G 5: 150,724,319 (GRCm39) T1301A probably benign Het
Pkhd1 A G 1: 20,128,841 (GRCm39) V3954A probably benign Het
Pkp4 A T 2: 59,180,952 (GRCm39) K739I probably damaging Het
Pla2g4e T C 2: 120,016,927 (GRCm39) probably benign Het
Plod3 G C 5: 137,017,000 (GRCm39) A50P probably benign Het
Ralgds T C 2: 28,442,107 (GRCm39) L96P probably damaging Het
Rbm6 A T 9: 107,724,446 (GRCm39) probably benign Het
Scp2d1 T C 2: 144,666,087 (GRCm39) L142P probably damaging Het
Setd5 AT ATT 6: 113,088,281 (GRCm39) probably benign Het
Sgf29 G A 7: 126,270,949 (GRCm39) C143Y probably damaging Het
Slc22a12 A G 19: 6,591,129 (GRCm39) I156T probably benign Het
Stambpl1 A G 19: 34,211,446 (GRCm39) Q169R probably benign Het
Tex2 T C 11: 106,457,832 (GRCm39) probably benign Het
Trip11 A T 12: 101,850,575 (GRCm39) I878N probably damaging Het
Ttf1 C T 2: 28,955,488 (GRCm39) S284L probably benign Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Ugt2b5 A T 5: 87,287,582 (GRCm39) V195E probably damaging Het
Vmn1r14 T A 6: 57,210,808 (GRCm39) Y85N probably benign Het
Zfp131 C T 13: 120,237,554 (GRCm39) R268H probably damaging Het
Other mutations in Cd38
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01375:Cd38 APN 5 44,060,939 (GRCm39) missense probably benign 0.04
IGL01691:Cd38 APN 5 44,060,928 (GRCm39) splice site probably benign
IGL02585:Cd38 APN 5 44,067,644 (GRCm39) missense probably damaging 1.00
paradiso UTSW 5 44,060,927 (GRCm39) splice site probably null
IGL02796:Cd38 UTSW 5 44,063,555 (GRCm39) missense probably damaging 1.00
R0496:Cd38 UTSW 5 44,026,233 (GRCm39) missense probably damaging 1.00
R0855:Cd38 UTSW 5 44,060,927 (GRCm39) splice site probably null
R1621:Cd38 UTSW 5 44,058,866 (GRCm39) missense probably benign 0.00
R2353:Cd38 UTSW 5 44,065,353 (GRCm39) critical splice donor site probably null
R2366:Cd38 UTSW 5 44,060,932 (GRCm39) splice site probably benign
R2860:Cd38 UTSW 5 44,058,775 (GRCm39) missense probably damaging 1.00
R2861:Cd38 UTSW 5 44,058,775 (GRCm39) missense probably damaging 1.00
R4343:Cd38 UTSW 5 44,026,431 (GRCm39) missense probably benign 0.00
R4344:Cd38 UTSW 5 44,026,431 (GRCm39) missense probably benign 0.00
R4953:Cd38 UTSW 5 44,064,887 (GRCm39) missense possibly damaging 0.73
R5007:Cd38 UTSW 5 44,063,506 (GRCm39) missense probably damaging 1.00
R5371:Cd38 UTSW 5 44,026,225 (GRCm39) missense probably benign 0.01
R5699:Cd38 UTSW 5 44,057,728 (GRCm39) missense probably damaging 1.00
R6857:Cd38 UTSW 5 44,063,540 (GRCm39) missense probably damaging 0.99
R6945:Cd38 UTSW 5 44,065,348 (GRCm39) missense probably damaging 1.00
R7129:Cd38 UTSW 5 44,067,651 (GRCm39) missense probably benign 0.13
R7825:Cd38 UTSW 5 44,058,797 (GRCm39) missense probably damaging 1.00
R7852:Cd38 UTSW 5 44,058,790 (GRCm39) missense probably damaging 1.00
R7855:Cd38 UTSW 5 44,058,790 (GRCm39) missense probably damaging 1.00
R7894:Cd38 UTSW 5 44,057,746 (GRCm39) missense probably damaging 1.00
R8133:Cd38 UTSW 5 44,058,790 (GRCm39) missense probably damaging 1.00
R8134:Cd38 UTSW 5 44,058,790 (GRCm39) missense probably damaging 1.00
R9041:Cd38 UTSW 5 44,058,899 (GRCm39) critical splice donor site probably null
R9558:Cd38 UTSW 5 44,057,792 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- CTATGAATTTAGCCAGGTGTCTG -3'
(R):5'- TTCTGGTAACTTGAACAGGAGACC -3'

Sequencing Primer
(F):5'- TGGGGACAGACCTGGCTG -3'
(R):5'- AGACCTTCCGCTCAGCACTG -3'
Posted On 2015-06-24