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)
|
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
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: 97.5%
- 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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
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 |
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 |