Incidental Mutation 'R0855:Cd38'
| ID |
82686 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cd38
|
| Ensembl Gene |
ENSMUSG00000029084 |
| Gene Name |
CD38 antigen |
| Synonyms |
Cd38-rs1 |
| MMRRC Submission |
039034-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0855 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
44026153-44069714 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 44060927 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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 null
Transcript: ENSMUST00000030964
|
| SMART Domains |
Protein: ENSMUSP00000030964
Gene: ENSMUSG00000029084
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
23 |
45 |
N/A |
INTRINSIC |
|
Pfam:Rib_hydrolayse
|
59 |
300 |
2.9e-104 |
PFAM |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 94.9%
|
| Validation Efficiency |
97% (35/36) |
| 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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700046A07Rik |
A |
G |
18: 62,886,414 (GRCm39) |
|
noncoding transcript |
Het |
| Ak3 |
T |
C |
19: 29,000,345 (GRCm39) |
K189E |
probably benign |
Het |
| Anks3 |
A |
T |
16: 4,773,811 (GRCm39) |
|
probably benign |
Het |
| Ash1l |
C |
A |
3: 88,961,761 (GRCm39) |
H2378N |
possibly damaging |
Het |
| Baz1a |
A |
G |
12: 54,947,348 (GRCm39) |
|
probably benign |
Het |
| Bicra |
A |
G |
7: 15,705,929 (GRCm39) |
F1504S |
probably damaging |
Het |
| Blzf1 |
T |
C |
1: 164,119,950 (GRCm39) |
T353A |
possibly damaging |
Het |
| Btn1a1 |
C |
A |
13: 23,648,489 (GRCm39) |
V115F |
probably damaging |
Het |
| Cep250 |
T |
C |
2: 155,806,031 (GRCm39) |
C109R |
probably damaging |
Het |
| Cnksr1 |
C |
T |
4: 133,960,377 (GRCm39) |
|
probably benign |
Het |
| Dmxl2 |
T |
A |
9: 54,273,724 (GRCm39) |
N3048I |
probably benign |
Het |
| Impdh1 |
T |
A |
6: 29,206,971 (GRCm39) |
H116L |
probably damaging |
Het |
| Kank4 |
C |
A |
4: 98,659,681 (GRCm39) |
W799L |
probably damaging |
Het |
| Kcnk7 |
C |
T |
19: 5,756,103 (GRCm39) |
H110Y |
probably benign |
Het |
| Mak |
T |
C |
13: 41,223,640 (GRCm39) |
E25G |
probably damaging |
Het |
| Mrpl54 |
G |
A |
10: 81,102,759 (GRCm39) |
|
probably benign |
Het |
| Myh10 |
A |
C |
11: 68,702,627 (GRCm39) |
D1767A |
possibly damaging |
Het |
| Naip2 |
T |
C |
13: 100,298,362 (GRCm39) |
E558G |
probably benign |
Het |
| Naip2 |
C |
T |
13: 100,298,368 (GRCm39) |
G556D |
probably benign |
Het |
| Ndufaf6 |
A |
T |
4: 11,051,169 (GRCm39) |
H310Q |
probably damaging |
Het |
| Osbpl6 |
G |
T |
2: 76,415,477 (GRCm39) |
G467V |
probably damaging |
Het |
| Osbpl6 |
A |
G |
2: 76,422,183 (GRCm39) |
E673G |
probably damaging |
Het |
| Picalm |
T |
A |
7: 89,840,356 (GRCm39) |
D458E |
possibly damaging |
Het |
| Ppp2ca |
G |
A |
11: 52,012,752 (GRCm39) |
R294H |
probably benign |
Het |
| Prdm14 |
T |
A |
1: 13,195,761 (GRCm39) |
N100I |
probably benign |
Het |
| Rbbp6 |
A |
G |
7: 122,591,471 (GRCm39) |
T510A |
probably benign |
Het |
| Sars1 |
C |
A |
3: 108,334,248 (GRCm39) |
E503D |
probably benign |
Het |
| Smtn |
T |
C |
11: 3,471,880 (GRCm39) |
D853G |
probably damaging |
Het |
| Tbx20 |
A |
G |
9: 24,636,908 (GRCm39) |
M393T |
probably benign |
Het |
| Thada |
T |
C |
17: 84,744,083 (GRCm39) |
T742A |
probably damaging |
Het |
| Tmem63a |
T |
C |
1: 180,788,625 (GRCm39) |
S321P |
possibly damaging |
Het |
| Trim24 |
T |
A |
6: 37,892,137 (GRCm39) |
C223* |
probably null |
Het |
| Usp48 |
T |
C |
4: 137,335,465 (GRCm39) |
F213L |
probably damaging |
Het |
| Vmn2r109 |
A |
T |
17: 20,761,670 (GRCm39) |
Y562* |
probably null |
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 |
|
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 |
|
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'- TTCCCAGAATGGTGAGTCAAAACCC -3'
(R):5'- ACACAGCCAGTGAGTGTTACCTCC -3'
Sequencing Primer
(F):5'- AACCCATCACAGTGTTCCTG -3'
(R):5'- ACCTCCTCACTGGGTTAGG -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation