Incidental Mutation 'R1621:Cd38'
ID 174654
Institutional Source Beutler Lab
Gene Symbol Cd38
Ensembl Gene ENSMUSG00000029084
Gene Name CD38 antigen
Synonyms Cd38-rs1
MMRRC Submission 039658-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1621 (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 G at 44058866 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 160 (D160G)
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: D160G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000030964
Gene: ENSMUSG00000029084
AA Change: D160G

DomainStartEndE-ValueType
transmembrane domain 23 45 N/A INTRINSIC
Pfam:Rib_hydrolayse 59 300 2.9e-104 PFAM
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 94.0%
  • 20x: 84.5%
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl6b A G 5: 137,564,041 (GRCm39) N253S probably benign Het
Adamts3 G A 5: 89,869,560 (GRCm39) H272Y probably damaging Het
Arpc5l T C 2: 38,903,913 (GRCm39) probably null Het
Birc6 G A 17: 74,977,245 (GRCm39) V4333I probably benign Het
Cdc7 A G 5: 107,112,920 (GRCm39) S13G probably benign Het
Chrm5 G T 2: 112,310,182 (GRCm39) D311E probably benign Het
Ctns A G 11: 73,079,298 (GRCm39) V140A possibly damaging Het
Ets2 A G 16: 95,510,913 (GRCm39) D57G probably damaging Het
Fbxo36 T A 1: 84,817,595 (GRCm39) M1K probably null Het
Fhod3 T A 18: 25,155,924 (GRCm39) I514K probably benign Het
G3bp2 A T 5: 92,204,137 (GRCm39) F350I probably damaging Het
Hs3st3a1 G T 11: 64,327,049 (GRCm39) V53F probably benign Het
Ippk T C 13: 49,615,044 (GRCm39) S427P probably benign Het
Irgm2 T C 11: 58,111,364 (GRCm39) F364L probably benign Het
Lipn A G 19: 34,046,113 (GRCm39) K29E probably benign Het
Map3k11 A G 19: 5,740,834 (GRCm39) E187G probably damaging Het
Nrxn3 A G 12: 88,762,480 (GRCm39) M176V probably benign Het
Or2z9 A G 8: 72,853,973 (GRCm39) Y123C probably damaging Het
Palm3 G A 8: 84,756,651 (GRCm39) S721N possibly damaging Het
Plxnb1 A G 9: 108,935,873 (GRCm39) I1088V probably benign Het
Pmfbp1 A G 8: 110,226,170 (GRCm39) H69R probably benign Het
Pou2af1 C T 9: 51,144,160 (GRCm39) H54Y probably damaging Het
Prl6a1 C T 13: 27,501,993 (GRCm39) T120I probably benign Het
Psen2 A T 1: 180,057,030 (GRCm39) F331L probably benign Het
Pygl T C 12: 70,237,866 (GRCm39) D724G probably damaging Het
Slc25a48 T A 13: 56,618,283 (GRCm39) *307R probably null Het
Slc39a6 T C 18: 24,733,946 (GRCm39) K248E probably benign Het
Slco4a1 A T 2: 180,112,925 (GRCm39) T386S probably benign Het
Snx7 T C 3: 117,630,805 (GRCm39) I185V possibly damaging Het
Tmem94 A G 11: 115,676,671 (GRCm39) S59G probably benign Het
Top3a A T 11: 60,641,433 (GRCm39) I392N probably damaging Het
Utp20 A G 10: 88,598,733 (GRCm39) I81T probably benign Het
Utrn A G 10: 12,589,027 (GRCm39) L893S probably benign 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
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
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'- TGCTCTGAACAGAGGAGGTCTGTG -3'
(R):5'- GAGCCCAGTTTGTCACTAAGGTCAC -3'

Sequencing Primer
(F):5'- cactcaatctactgctgaccc -3'
(R):5'- TGTCACTAAGGTCACTGATGG -3'
Posted On 2014-04-24