Mutagenetix > Incidental Mutation

Incidental Mutation 'R5371:Cd38'

428714

Institutional Source

Beutler Lab

Gene Symbol

Cd38

Ensembl Gene

ENSMUSG00000029084

Gene Name

CD38 antigen

Synonyms

Cd38-rs1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5371 (G1)

Quality Score

145

Status

Validated

Chromosome

Chromosomal Location

44026153-44069714 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44026225 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 3 (N3S)

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: N3S

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000030964
Gene: ENSMUSG00000029084
AA Change: N3S

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

0.0879

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

96% (71/74)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	G	T	7: 29,261,918 (GRCm39)		noncoding transcript	Het
Arpp21	G	A	9: 111,895,000 (GRCm39)	P755S	probably benign	Het
Aspm	C	T	1: 139,398,279 (GRCm39)	Q982*	probably null	Het
Atp5f1e	C	T	2: 174,304,319 (GRCm39)		probably benign	Het
BC024139	A	G	15: 76,004,886 (GRCm39)	*598Q	probably null	Het
Bcl6	T	A	16: 23,788,736 (GRCm39)	D544V	possibly damaging	Het
Ccdc9	A	T	7: 16,014,655 (GRCm39)	D195E	probably damaging	Het
Cfap46	A	T	7: 139,212,097 (GRCm39)		probably null	Het
Cmtr2	T	C	8: 110,948,044 (GRCm39)	F118S	probably damaging	Het
Cyp7a1	A	G	4: 6,268,378 (GRCm39)	F449S	probably damaging	Het
Dnah10	C	T	5: 124,820,693 (GRCm39)	A509V	probably benign	Het
Dsp	A	T	13: 38,378,865 (GRCm39)	Q1271L	probably damaging	Het
Edar	A	C	10: 58,443,274 (GRCm39)	V284G	possibly damaging	Het
Fdft1	A	G	14: 63,388,750 (GRCm39)	V294A	probably damaging	Het
Gba1	T	A	3: 89,112,778 (GRCm39)	V140E	probably benign	Het
Gm12185	A	T	11: 48,806,566 (GRCm39)	S208R	probably benign	Het
Gm21028	C	A	7: 42,227,946 (GRCm39)	E23*	probably null	Het
Gm6871	A	G	7: 41,222,992 (GRCm39)	L32P	probably benign	Het
Hhip	C	T	8: 80,724,220 (GRCm39)	V341M	probably damaging	Het
Kcnq2	C	A	2: 180,776,813 (GRCm39)	V25L	probably damaging	Het
Krit1	C	A	5: 3,881,551 (GRCm39)	H548N	probably damaging	Het
Kynu	C	T	2: 43,479,406 (GRCm39)	A100V	probably benign	Het
Lpp	T	C	16: 24,708,554 (GRCm39)	C295R	probably damaging	Het
Mdp1	A	G	14: 55,897,806 (GRCm39)	V9A	probably damaging	Het
Mllt3	T	C	4: 87,759,093 (GRCm39)	I318M	possibly damaging	Het
Mpzl3	A	G	9: 44,966,510 (GRCm39)		probably benign	Het
Mroh2a	A	G	1: 88,186,386 (GRCm39)	S64G	probably benign	Het
Mup8	A	G	4: 60,222,423 (GRCm39)	V16A	probably benign	Het
Myh13	T	A	11: 67,235,616 (GRCm39)		probably null	Het
Myh4	A	T	11: 67,150,150 (GRCm39)	Q1869L	probably damaging	Het
Nt5c	G	A	11: 115,381,643 (GRCm39)		probably null	Het
Olfr908	CACAACAACA	CACAACA	9: 38,427,434 (GRCm39)		probably benign	Het
Or13c7b	A	T	4: 43,821,058 (GRCm39)	M101K	probably damaging	Het
Or51h7	T	A	7: 102,591,719 (GRCm39)	M22L	probably benign	Het
Or5d43	C	A	2: 88,104,976 (GRCm39)	C139F	probably damaging	Het
Parp11	T	C	6: 127,447,755 (GRCm39)	F30L	probably damaging	Het
Pcdhgc3	A	T	18: 37,941,507 (GRCm39)	D636V	possibly damaging	Het
Ppp1cb	T	C	5: 32,643,332 (GRCm39)	F234L	probably damaging	Het
Rras2	A	T	7: 113,649,572 (GRCm39)	V164E	probably damaging	Het
Rsf1	GCGGCGGCG	GCGGCGGCGACGGCGGCG	7: 97,229,120 (GRCm39)		probably benign	Het
Scg3	T	C	9: 75,568,583 (GRCm39)	T390A	probably damaging	Het
Shh	C	A	5: 28,671,688 (GRCm39)	C25F	probably damaging	Het
Slc24a1	T	C	9: 64,856,550 (GRCm39)	K119R	unknown	Het
Speg	G	T	1: 75,408,037 (GRCm39)	R3244L	possibly damaging	Het
Spns1	A	G	7: 125,972,936 (GRCm39)		probably benign	Het
Sptbn4	A	C	7: 27,059,166 (GRCm39)		probably null	Het
Stap1	T	A	5: 86,244,375 (GRCm39)	F214Y	possibly damaging	Het
Tcerg1	T	A	18: 42,652,600 (GRCm39)	M76K	unknown	Het
Tjp1	A	T	7: 64,963,059 (GRCm39)	Y959*	probably null	Het
Tmprss11e	A	T	5: 86,875,225 (GRCm39)	C14S	probably benign	Het
Tnfrsf14	T	C	4: 155,006,934 (GRCm39)		probably null	Het
Tsfm	A	C	10: 126,847,512 (GRCm39)	V193G	probably benign	Het
Ube2q2l	T	A	6: 136,378,371 (GRCm39)	Y153F	probably benign	Het
Ush2a	A	T	1: 188,175,267 (GRCm39)	I1122L	probably benign	Het
Vmn1r74	T	A	7: 11,580,984 (GRCm39)	S95T	probably damaging	Het
Vmn2r98	G	A	17: 19,290,015 (GRCm39)	C517Y	probably damaging	Het
Vstm2b	G	A	7: 40,550,702 (GRCm39)	S99N	possibly damaging	Het
Zbtb24	A	G	10: 41,327,537 (GRCm39)	N141S	probably benign	Het
Zcchc4	T	G	5: 52,942,512 (GRCm39)	C106G	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
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
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'- GTGCCTGTTGACAACCCAAG -3'
(R):5'- AGTGTAGATGAGGCAGCGTC -3'

Sequencing Primer
(F):5'- GTTGACAACCCAAGAGCCTTATTAG -3'
(R):5'- ATGTCAGAAAAGTGCTTCGTG -3'

Posted On

2016-09-06