Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02796:Cd38'

392020

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 #

IGL02796 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44026153-44069714 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44063555 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 216 (L216P)

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 damaging
Transcript: ENSMUST00000030964
AA Change: L216P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000030964
Gene: ENSMUSG00000029084
AA Change: L216P

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: ENSMUST00000154897

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

98% (50/51)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl5	A	T	19: 55,266,601 (GRCm39)	K86*	probably null	Het
Ambp	C	A	4: 63,072,169 (GRCm39)		probably benign	Het
Atp6v0d2	A	T	4: 19,887,324 (GRCm39)	M208K	probably damaging	Het
Brinp1	C	G	4: 68,680,427 (GRCm39)	R701P	probably damaging	Het
Btnl9	T	C	11: 49,060,008 (GRCm39)	D580G	probably damaging	Het
Cand1	A	T	10: 119,049,543 (GRCm39)	L401H	probably damaging	Het
Ccdc66	T	C	14: 27,208,523 (GRCm39)	E577G	possibly damaging	Het
Ccdc93	C	A	1: 121,418,895 (GRCm39)	D483E	probably damaging	Het
Cdr1	C	T	X: 60,228,087 (GRCm39)	D360N	possibly damaging	Het
Cibar2	C	T	8: 120,904,138 (GRCm39)		probably benign	Het
Col9a3	G	T	2: 180,255,955 (GRCm39)	D443Y	probably damaging	Het
Cpt1b	C	T	15: 89,309,005 (GRCm39)	V66I	probably benign	Het
Cyp8b1	T	A	9: 121,744,564 (GRCm39)	Y256F	probably benign	Het
Dennd10	A	G	19: 60,806,081 (GRCm39)		probably benign	Het
Dync1i1	A	G	6: 5,757,385 (GRCm39)	N48S	probably benign	Het
Ehd3	T	A	17: 74,123,396 (GRCm39)	L133Q	probably damaging	Het
Eif6	C	A	2: 155,668,068 (GRCm39)	R57L	probably damaging	Het
Fcgbp	T	A	7: 27,800,576 (GRCm39)		probably benign	Het
Fgl1	C	T	8: 41,650,095 (GRCm39)	A229T	probably benign	Het
Flg2	C	T	3: 93,110,920 (GRCm39)	R983W	unknown	Het
Gdf7	A	T	12: 8,351,666 (GRCm39)	S90T	unknown	Het
Ggta1	T	C	2: 35,303,329 (GRCm39)		probably benign	Het
Gm44859	C	T	19: 12,014,112 (GRCm39)		probably benign	Het
Grin2a	T	C	16: 9,402,972 (GRCm39)	E838G	possibly damaging	Het
Grin2c	A	G	11: 115,141,543 (GRCm39)		probably benign	Het
Grm1	T	C	10: 10,565,411 (GRCm39)	T966A	probably benign	Het
Gtpbp1	A	G	15: 79,601,186 (GRCm39)	I468M	possibly damaging	Het
Gucy1b2	G	A	14: 62,645,143 (GRCm39)	P639S	probably benign	Het
Hat1	T	C	2: 71,250,700 (GRCm39)		probably null	Het
Hira	A	T	16: 18,744,404 (GRCm39)	I374F	probably benign	Het
Htt	C	A	5: 35,034,826 (GRCm39)	Q2024K	probably benign	Het
Kcnj6	A	G	16: 94,633,778 (GRCm39)	M111T	probably benign	Het
Loxhd1	T	A	18: 77,456,811 (GRCm39)		probably benign	Het
Lrif1	T	A	3: 106,642,752 (GRCm39)	M619K	probably benign	Het
Lrrc8b	G	A	5: 105,629,211 (GRCm39)	G519D	probably damaging	Het
Map3k7	A	G	4: 31,979,692 (GRCm39)		probably benign	Het
Or2ah1	T	C	2: 85,653,933 (GRCm39)	I206T	probably benign	Het
Or4d6	T	A	19: 12,086,248 (GRCm39)	I221F	possibly damaging	Het
P2ry12	T	C	3: 59,125,302 (GRCm39)	I124M	probably damaging	Het
Paxbp1	A	G	16: 90,822,182 (GRCm39)		probably benign	Het
Polb	A	T	8: 23,121,474 (GRCm39)	I257N	probably damaging	Het
Psg27	A	T	7: 18,295,875 (GRCm39)	V190E	probably benign	Het
Rabgap1	T	A	2: 37,362,318 (GRCm39)	N54K	probably damaging	Het
Sacm1l	T	A	9: 123,377,989 (GRCm39)	W90R	possibly damaging	Het
Snrpb2	A	T	2: 142,906,487 (GRCm39)	M1L	probably benign	Het
Spata31d1d	A	G	13: 59,876,057 (GRCm39)	Y493H	possibly damaging	Het
Speer4c1	A	C	5: 15,919,214 (GRCm39)		probably benign	Het
Spocd1	A	G	4: 129,841,548 (GRCm39)		probably benign	Het
Tbc1d5	G	T	17: 51,273,652 (GRCm39)	H123Q	probably damaging	Het
Ttn	T	C	2: 76,608,445 (GRCm39)	N17826S	probably damaging	Het
Tubgcp6	A	G	15: 89,006,593 (GRCm39)	I143T	probably benign	Het
Usp48	A	G	4: 137,338,029 (GRCm39)	Y268C	probably damaging	Het
Zfhx4	G	A	3: 5,464,599 (GRCm39)	V1586M	probably damaging	Het
Zfp146	C	T	7: 29,861,983 (GRCm39)	V20I	probably benign	Het
Zfp263	G	A	16: 3,564,740 (GRCm39)	E252K	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
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
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'- TACTCTTTGGATGGAATTGCTGAAG -3'
(R):5'- TCAAGGGCAATGACTGGGAA -3'

Sequencing Primer
(F):5'- GTCCTGGACATCACTCTGTAGAC -3'
(R):5'- AACCTGCAATGGCCTTTAGG -3'

Posted On

2016-06-08