Mutagenetix > Incidental Mutation

Incidental Mutation 'R7129:Cd38'

552511

Institutional Source

Beutler Lab

Gene Symbol

Cd38

Ensembl Gene

ENSMUSG00000029084

Gene Name

CD38 antigen

Synonyms

Cd38-rs1

MMRRC Submission

045214-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7129 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44026153-44069714 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44067651 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 294 (N294S)

Ref Sequence

ENSEMBL: ENSMUSP00000030964 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030964] [ENSMUST00000122204] [ENSMUST00000200338]

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: N294S

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000030964
Gene: ENSMUSG00000029084
AA Change: N294S

Domain	Start	End	E-Value	Type
transmembrane domain	23	45	N/A	INTRINSIC
Pfam:Rib_hydrolayse	59	300	2.9e-104	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000122204

SMART Domains

Protein: ENSMUSP00000142767
Gene: ENSMUSG00000033036

Domain	Start	End	E-Value	Type
Pfam:Pro_isomerase	14	176	5.8e-49	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000200338

SMART Domains

Protein: ENSMUSP00000142776
Gene: ENSMUSG00000033036

Domain	Start	End	E-Value	Type
Pfam:Pro_isomerase	14	132	8.3e-26	PFAM

Meta Mutation Damage Score

0.0689

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (58/59)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	A	G	8: 73,209,199 (GRCm39)	E443G	probably damaging	Het
2700049A03Rik	A	G	12: 71,263,004 (GRCm39)		probably null	Het
3110082I17Rik	A	G	5: 139,349,738 (GRCm39)	Y104H	probably damaging	Het
Abcg4	T	C	9: 44,190,681 (GRCm39)	K282E	probably benign	Het
Adamts17	T	C	7: 66,770,758 (GRCm39)	S956P	probably damaging	Het
Adh1	T	C	3: 137,986,235 (GRCm39)	V74A	probably damaging	Het
Akt1	A	T	12: 112,626,083 (GRCm39)	M63K	probably benign	Het
Arfrp1	G	A	2: 181,001,344 (GRCm39)	R177*	probably null	Het
Arl11	A	G	14: 61,548,346 (GRCm39)	E52G	possibly damaging	Het
BC051019	T	C	7: 109,319,825 (GRCm39)	S10G		Het
Bfsp2	T	A	9: 103,357,118 (GRCm39)	E103V	probably damaging	Het
Bms1	G	T	6: 118,380,122 (GRCm39)	C728*	probably null	Het
Cachd1	T	G	4: 100,775,263 (GRCm39)	N159K	probably null	Het
Cfap54	T	C	10: 92,852,433 (GRCm39)	N891S	probably benign	Het
Chsy3	A	T	18: 59,543,370 (GRCm39)	H836L	probably damaging	Het
Cldn16	A	T	16: 26,301,388 (GRCm39)	D232V	probably damaging	Het
Dhx33	A	T	11: 70,884,689 (GRCm39)	I425N	probably damaging	Het
Dock4	A	G	12: 40,878,878 (GRCm39)	N1506D	probably damaging	Het
Dok7	T	C	5: 35,236,392 (GRCm39)	S227P	probably damaging	Het
Elf2	T	C	3: 51,168,432 (GRCm39)	R201G	probably damaging	Het
Elp1	T	C	4: 56,787,944 (GRCm39)	H329R	probably damaging	Het
Etaa1	T	C	11: 17,890,339 (GRCm39)	R841G	possibly damaging	Het
Exoc4	T	C	6: 33,948,934 (GRCm39)	Y926H	probably damaging	Het
Fras1	A	G	5: 96,929,143 (GRCm39)	H3849R	probably benign	Het
Hapln3	C	T	7: 78,771,572 (GRCm39)	G106R	probably damaging	Het
Hmcn1	A	C	1: 150,452,961 (GRCm39)		probably null	Het
Ifitm7	A	T	16: 13,801,600 (GRCm39)	I53N	possibly damaging	Het
Il6ra	T	C	3: 89,778,554 (GRCm39)	N433D	probably damaging	Het
Iqch	C	T	9: 63,329,191 (GRCm39)	V1048I	probably benign	Het
Kif20a	A	G	18: 34,765,588 (GRCm39)	T862A	probably benign	Het
Mcrs1	G	A	15: 99,146,609 (GRCm39)	L141F	probably damaging	Het
Nkx3-2	A	G	5: 41,919,017 (GRCm39)	S324P	probably damaging	Het
Nmi	A	T	2: 51,845,936 (GRCm39)		probably null	Het
Nufip1	A	G	14: 76,372,325 (GRCm39)	K480E	possibly damaging	Het
Oit3	T	A	10: 59,264,166 (GRCm39)	I323F	probably damaging	Het
Or2ag17	T	C	7: 106,389,690 (GRCm39)	K173E	probably benign	Het
Or5b98	A	T	19: 12,931,478 (GRCm39)	H175L	possibly damaging	Het
Pcdha11	A	G	18: 37,140,291 (GRCm39)	E640G	probably benign	Het
Phip	C	T	9: 82,759,353 (GRCm39)	V1366I	probably damaging	Het
Plin5	T	C	17: 56,422,174 (GRCm39)	M162V	probably null	Het
Podxl2	A	G	6: 88,820,487 (GRCm39)		probably null	Het
Ptprb	GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	10: 116,119,582 (GRCm39)		probably benign	Het
Rab4a	A	T	8: 124,554,069 (GRCm39)	D40V	probably benign	Het
Scn7a	A	G	2: 66,530,537 (GRCm39)	F603L	probably benign	Het
Slfn5	A	T	11: 82,851,976 (GRCm39)	K701*	probably null	Het
Speer4f2	A	G	5: 17,582,446 (GRCm39)	D223G		Het
Stip1	C	T	19: 6,999,178 (GRCm39)	G467S	possibly damaging	Het
Tas2r117	A	T	6: 132,780,350 (GRCm39)	T163S	probably benign	Het
Tecta	T	C	9: 42,259,287 (GRCm39)	D1532G	probably damaging	Het
Tmem63a	T	C	1: 180,782,441 (GRCm39)	I146T	probably damaging	Het
Ttn	C	A	2: 76,646,515 (GRCm39)	G12844W	probably damaging	Het
Usp22	T	C	11: 61,053,775 (GRCm39)	I190V	probably damaging	Het
Usp24	T	C	4: 106,219,412 (GRCm39)	I536T	probably damaging	Het
Vmn1r23	A	G	6: 57,903,061 (GRCm39)	V239A	possibly damaging	Het
Vmn1r9	A	C	6: 57,048,611 (GRCm39)	T229P	probably damaging	Het
Zbtb21	AGCTGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGC	AGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGC	16: 97,752,887 (GRCm39)		probably benign	Het
Zbtb8a	G	C	4: 129,254,188 (GRCm39)	A102G	probably damaging	Het
Zfp51	T	C	17: 21,681,971 (GRCm39)	W57R	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
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
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'- GACCATAGTGACATCATCTGGTCTC -3'
(R):5'- TGGGAAGTTCTTCCATCTCTG -3'

Sequencing Primer
(F):5'- CATAGCCTTCGTGTGGACATCAAAG -3'
(R):5'- CATCTCTGGTGTTAACACTGTAGTAG -3'

Posted On

2019-05-15