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)
|
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
Domain | Start | End | E-Value | Type |
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 |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |