Incidental Mutation 'R2860:Cd38'
ID 252824
Institutional Source Beutler Lab
Gene Symbol Cd38
Ensembl Gene ENSMUSG00000029084
Gene Name CD38 antigen
Synonyms Cd38-rs1
MMRRC Submission 040450-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2860 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 44026153-44069714 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 44058775 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 130 (S130G)
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 damaging
Transcript: ENSMUST00000030964
AA Change: S130G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030964
Gene: ENSMUSG00000029084
AA Change: S130G

DomainStartEndE-ValueType
transmembrane domain 23 45 N/A INTRINSIC
Pfam:Rib_hydrolayse 59 300 2.9e-104 PFAM
Meta Mutation Damage Score 0.8715 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 94.9%
Validation Efficiency 100% (44/44)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,259,057 (GRCm39) S2928G probably damaging Het
Abcc9 C T 6: 142,571,736 (GRCm39) V1131M probably benign Het
Abcd1 T A X: 72,781,064 (GRCm39) L713H probably damaging Het
Actg1 T C 11: 120,237,627 (GRCm39) I52V probably benign Het
Ang G T 14: 51,339,275 (GRCm39) D139Y probably damaging Het
Ano1 C T 7: 144,143,749 (GRCm39) G1011E probably damaging Het
Apoe T C 7: 19,431,479 (GRCm39) Y46C probably damaging Het
Ash1l T C 3: 88,961,785 (GRCm39) W2386R probably damaging Het
Asph T C 4: 9,598,277 (GRCm39) D250G probably damaging Het
Atr A G 9: 95,756,296 (GRCm39) N836S probably benign Het
Bltp1 G A 3: 37,019,998 (GRCm39) S2079N probably damaging Het
Btg3 A G 16: 78,161,868 (GRCm39) V114A probably damaging Het
C2 T C 17: 35,082,854 (GRCm39) T471A possibly damaging Het
C4b T A 17: 34,953,732 (GRCm39) S959C probably damaging Het
Cap1 A T 4: 122,758,518 (GRCm39) S221T probably benign Het
Capn2 A T 1: 182,300,485 (GRCm39) probably benign Het
Cd8b1 A G 6: 71,311,085 (GRCm39) R202G probably damaging Het
Col22a1 A G 15: 71,687,792 (GRCm39) probably null Het
Cps1 A T 1: 67,205,534 (GRCm39) E519V probably benign Het
Cyp2c38 G A 19: 39,449,138 (GRCm39) R72W probably benign Het
Cyp3a16 A T 5: 145,392,309 (GRCm39) Y215* probably null Het
Dennd10 T C 19: 60,803,232 (GRCm39) S80P probably benign Het
F5 A T 1: 164,012,533 (GRCm39) K482N probably damaging Het
Gab1 T C 8: 81,511,382 (GRCm39) M488V probably benign Het
Gabpb1 A G 2: 126,495,494 (GRCm39) I86T probably damaging Het
Gbx2 C T 1: 89,856,853 (GRCm39) R179Q probably damaging Het
Gm11938 C A 11: 99,493,972 (GRCm39) R41L probably damaging Het
Gpn1 A G 5: 31,654,664 (GRCm39) D72G probably damaging Het
Greb1 A G 12: 16,761,746 (GRCm39) S545P probably benign Het
Hsd3b7 T G 7: 127,401,442 (GRCm39) L189R probably damaging Het
Iglc1 T C 16: 18,880,660 (GRCm39) probably benign Het
Il18r1 T C 1: 40,537,717 (GRCm39) V494A possibly damaging Het
Inka1 T C 9: 107,861,603 (GRCm39) T238A probably benign Het
Itsn2 C A 12: 4,750,315 (GRCm39) probably benign Het
Kcnn1 T C 8: 71,299,179 (GRCm39) K487R probably benign Het
Kdf1 G A 4: 133,255,852 (GRCm39) E190K probably damaging Het
Lama3 G T 18: 12,586,807 (GRCm39) L723F probably damaging Het
Lama5 T C 2: 179,829,040 (GRCm39) T2034A probably benign Het
Maged1 G A X: 93,582,530 (GRCm39) P366S probably damaging Het
Med14 A G X: 12,585,936 (GRCm39) I521T probably benign Het
Mia2 A G 12: 59,201,196 (GRCm39) K841E probably damaging Het
Mrgbp G A 2: 180,225,203 (GRCm39) R53Q possibly damaging Het
Nmnat2 G A 1: 152,988,171 (GRCm39) V267I probably benign Het
Opn4 A G 14: 34,315,785 (GRCm39) probably null Het
Or2d2b T A 7: 106,705,675 (GRCm39) H131L probably benign Het
Or4f56 G T 2: 111,703,818 (GRCm39) C127* probably null Het
Or5p66 A G 7: 107,886,169 (GRCm39) S55P probably damaging Het
Or6k6 A G 1: 173,945,298 (GRCm39) Y95H probably damaging Het
Ovgp1 T C 3: 105,893,883 (GRCm39) probably benign Het
Parp16 G T 9: 65,141,086 (GRCm39) D219Y probably damaging Het
Pitpnm2 G C 5: 124,259,500 (GRCm39) H1224Q probably damaging Het
Pkd1 C T 17: 24,784,420 (GRCm39) T322I probably benign Het
Pkhd1l1 A C 15: 44,404,267 (GRCm39) T2299P probably damaging Het
Plin4 T C 17: 56,413,668 (GRCm39) D319G probably damaging Het
Ppp6r3 A C 19: 3,571,782 (GRCm39) S122R possibly damaging Het
Pum3 A T 19: 27,397,525 (GRCm39) probably benign Het
Pwwp3b G A X: 138,137,429 (GRCm39) G656S possibly damaging Het
Rims1 A T 1: 22,503,227 (GRCm39) F653I probably benign Het
Rnf113a1 A G X: 36,455,736 (GRCm39) E231G probably damaging Het
Rnf41 T C 10: 128,274,023 (GRCm39) L225P possibly damaging Het
Ryr2 T C 13: 11,607,979 (GRCm39) E876G probably damaging Het
Slc25a10 G A 11: 120,386,003 (GRCm39) V115M probably damaging Het
Snx13 T A 12: 35,188,116 (GRCm39) I798N probably benign Het
Sri A T 5: 8,117,540 (GRCm39) Q178L probably benign Het
Tex14 T G 11: 87,365,243 (GRCm39) D62E probably damaging Het
Tshz1 G T 18: 84,033,105 (GRCm39) H434Q probably damaging Het
Vegfd A G X: 163,168,879 (GRCm39) E57G probably damaging Het
Vmn2r112 T A 17: 22,822,096 (GRCm39) V258E probably damaging Het
Vmn2r59 A G 7: 41,696,427 (GRCm39) I105T possibly damaging Het
Vmn2r6 G T 3: 64,454,760 (GRCm39) T513N probably benign Het
Vmn2r72 A T 7: 85,400,044 (GRCm39) I335N probably damaging Het
Wiz G T 17: 32,580,680 (GRCm39) T257K probably damaging Het
Xirp1 A G 9: 119,847,444 (GRCm39) S41P probably benign Het
Xirp1 T C 9: 119,848,881 (GRCm39) M1V probably null 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
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'- CTGTGGTAGACAATAGCAAAACTG -3'
(R):5'- AAGTTCCCTTGCAGCTCAAAG -3'

Sequencing Primer
(F):5'- AGTGCATGTCATTTATTCTGATGG -3'
(R):5'- GCTCAAAGCTCCCTTCCCAC -3'
Posted On 2014-12-04