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