Incidental Mutation 'R4344:Cd38'
ID 324258
Institutional Source Beutler Lab
Gene Symbol Cd38
Ensembl Gene ENSMUSG00000029084
Gene Name CD38 antigen
Synonyms Cd38-rs1
MMRRC Submission 041101-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4344 (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: 97.5%
  • 20x: 95.9%
Validation Efficiency 98% (39/40)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 G T 1: 25,865,829 (GRCm39) R5S possibly damaging Het
Ccdc168 G A 1: 44,100,151 (GRCm39) L316F possibly damaging Het
Ccdc187 T A 2: 26,170,681 (GRCm39) K599I probably damaging Het
Ccn5 G A 2: 163,670,906 (GRCm39) V138M probably damaging Het
Cep19 C T 16: 31,925,883 (GRCm39) T97M probably damaging Het
Ces2a T G 8: 105,463,766 (GRCm39) D159E probably damaging Het
Dcc G A 18: 71,507,561 (GRCm39) A917V probably damaging Het
Dennd6b G A 15: 89,072,866 (GRCm39) A196V probably benign Het
Dlgap3 T C 4: 127,108,141 (GRCm39) S475P possibly damaging Het
Doc2a C T 7: 126,450,321 (GRCm39) P156S probably damaging Het
Elmo1 T A 13: 20,445,722 (GRCm39) probably null Het
Fbf1 A G 11: 116,038,568 (GRCm39) V851A probably benign Het
Fhdc1 C A 3: 84,352,133 (GRCm39) V1031F probably benign Het
Gm5878 G A 6: 85,102,633 (GRCm39) R31* probably null Het
Klk1b8 C A 7: 43,595,186 (GRCm39) probably benign Het
Lmcd1 T A 6: 112,264,968 (GRCm39) probably benign Het
Lyst T A 13: 13,873,051 (GRCm39) I2750K probably benign Het
Muc4 A G 16: 32,590,666 (GRCm39) N2958S possibly damaging Het
Plod3 G C 5: 137,017,000 (GRCm39) A50P probably benign Het
Ppp1r16b G A 2: 158,591,106 (GRCm39) V163I probably damaging Het
Prkdc T A 16: 15,585,886 (GRCm39) W2475R probably damaging Het
Rad54l C T 4: 115,954,551 (GRCm39) C684Y probably damaging Het
Ralgds T C 2: 28,442,107 (GRCm39) L96P probably damaging Het
Rasef T A 4: 73,663,326 (GRCm39) H167L probably damaging Het
Sh3bp2 T C 5: 34,712,886 (GRCm39) F165L possibly damaging Het
Slc38a9 T C 13: 112,865,749 (GRCm39) I482T probably benign Het
Tmprss6 T A 15: 78,343,627 (GRCm39) probably null Het
Trpm3 A T 19: 22,875,061 (GRCm39) S568C probably damaging Het
Ttc39c T A 18: 12,861,667 (GRCm39) probably null 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
Vmn2r22 C T 6: 123,614,756 (GRCm39) G278D probably damaging Het
Yme1l1 G A 2: 23,063,073 (GRCm39) A215T probably benign Het
Zmynd15 C T 11: 70,351,894 (GRCm39) R38* 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
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
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'- AACTATGAATTTAGCCAGGTGTCTG -3'
(R):5'- TGGTAACTTGAACAGGAGACCTTC -3'

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