Incidental Mutation 'R4343:Cd38'
ID 324219
Institutional Source Beutler Lab
Gene Symbol Cd38
Ensembl Gene ENSMUSG00000029084
Gene Name CD38 antigen
Synonyms Cd38-rs1
MMRRC Submission 041665-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4343 (G1)
Quality Score 225
Status Not 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: 95.6%
Validation Efficiency
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Diras1 T A 10: 80,858,018 (GRCm39) K78* probably null Het
Gm5878 G A 6: 85,102,633 (GRCm39) R31* probably null Het
Gm8674 T A 13: 50,053,742 (GRCm39) noncoding transcript Het
Gnal T C 18: 67,268,659 (GRCm39) S182P probably benign Het
Grik1 T C 16: 87,693,140 (GRCm39) T932A probably benign Het
Igf2r C T 17: 12,928,398 (GRCm39) E982K possibly damaging Het
Lepr G A 4: 101,622,349 (GRCm39) probably null Het
Mical3 C A 6: 120,911,799 (GRCm39) E1083* probably null Het
Mki67 A G 7: 135,296,847 (GRCm39) V2729A probably benign Het
Mmp20 GA GAA 9: 7,628,346 (GRCm39) probably null Het
Myo7b A G 18: 32,116,680 (GRCm39) F976L probably damaging Het
Nfasc A G 1: 132,559,443 (GRCm39) F229S probably damaging Het
Npc1l1 G A 11: 6,167,773 (GRCm39) T1006I probably benign Het
Or5g9 T A 2: 85,552,592 (GRCm39) V281E probably damaging Het
Plekha5 A G 6: 140,501,780 (GRCm39) E656G probably damaging Het
Prep C A 10: 44,996,866 (GRCm39) S381R probably damaging Het
Rab31 C T 17: 65,961,414 (GRCm39) R192H probably benign Het
Rbm5 T C 9: 107,629,395 (GRCm39) D319G probably damaging Het
Rexo2 T C 9: 48,380,148 (GRCm39) E228G possibly damaging Het
Rrn3 A G 16: 13,601,986 (GRCm39) D80G probably benign Het
Slc38a3 A G 9: 107,533,671 (GRCm39) V224A possibly damaging Het
Slc66a2 A G 18: 80,327,004 (GRCm39) probably benign Het
Sycp2 T C 2: 178,022,740 (GRCm39) T464A probably damaging Het
Tpcn1 A T 5: 120,698,285 (GRCm39) L79H probably damaging Het
Trim30a T C 7: 104,084,799 (GRCm39) Q137R probably benign Het
Tyrp1 A G 4: 80,768,078 (GRCm39) D92G possibly damaging Het
Ugt1a6a T C 1: 88,066,248 (GRCm39) L18P probably damaging Het
Ugt2b5 A T 5: 87,287,582 (GRCm39) V195E probably damaging Het
Zmym2 T A 14: 57,159,019 (GRCm39) M598K 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
R4342: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'- ACTATGAATTTAGCCAGGTGTCTG -3'
(R):5'- TGGTAACTTGAACAGGAGACCTTC -3'

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