Mutagenetix > Incidental Mutation

Incidental Mutation 'R4932:Adam21'

380663

Institutional Source

Beutler Lab

Gene Symbol

Adam21

Ensembl Gene

ENSMUSG00000008438

Gene Name

a disintegrin and metallopeptidase domain 21

Synonyms

ADAM31

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4932 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

81558584-81568474 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 81558918 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 690 (V690A)

Ref Sequence

ENSEMBL: ENSMUSP00000008582 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000008582]

AlphaFold

Q9JI76

Predicted Effect

probably benign
Transcript: ENSMUST00000008582
AA Change: V690A

PolyPhen 2 Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000008582
Gene: ENSMUSG00000008438
AA Change: V690A

Domain	Start	End	E-Value	Type
signal peptide	1	33	N/A	INTRINSIC
Pfam:Pep_M12B_propep	39	164	5.1e-21	PFAM
Pfam:Reprolysin_4	212	389	2.5e-11	PFAM
Pfam:Reprolysin	212	402	7.3e-50	PFAM
Pfam:Reprolysin_5	214	400	5.8e-19	PFAM
Pfam:Reprolysin_2	233	393	1.3e-14	PFAM
Pfam:Reprolysin_3	236	356	6.5e-16	PFAM
DISIN	419	494	2.45e-37	SMART
ACR	495	631	6.49e-62	SMART
EGF	637	667	2.03e1	SMART
transmembrane domain	687	709	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166971

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.0%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of a disintegrin and metalloprotease (ADAM) family of endoproteases that play important roles in various biological processes including cell signaling, adhesion and migration. The encoded preproprotein undergoes proteolytic processing to generate a mature, functional metalloprotease enzyme. The encoded protein functions in the regulation of spermatogenesis in the testes and neurogenesis in the central nervous system. [provided by RefSeq, May 2016]
PHENOTYPE: Mice homozygous for disruptions in this gene display a normal phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933417A18Rik	A	T	13: 34,932,630	T121S	possibly damaging	Het
Abcf1	A	T	17: 35,959,450	V616E	possibly damaging	Het
Afg3l1	A	T	8: 123,501,380	T635S	probably damaging	Het
Ahcyl2	T	A	6: 29,890,701	M390K	probably benign	Het
Ank3	T	A	10: 69,898,223		probably null	Het
Arhgef3	A	T	14: 27,384,213	K151N	probably damaging	Het
Ccr3	T	G	9: 124,029,006	F126C	probably damaging	Het
Ccser1	A	G	6: 61,718,191	D170G	possibly damaging	Het
Celsr2	T	A	3: 108,402,758	D1552V	probably damaging	Het
Cfap69	G	A	5: 5,625,820	L265F	probably damaging	Het
Chrna9	C	T	5: 65,969,190	R92*	probably null	Het
Cog3	A	T	14: 75,732,954	V341D	probably damaging	Het
Csmd1	C	A	8: 16,023,765	R2072L	probably damaging	Het
Dbf4	G	T	5: 8,398,039	H390Q	probably benign	Het
Dcaf4	T	A	12: 83,532,304	C166S	possibly damaging	Het
Dclk3	T	A	9: 111,468,042	L218Q	possibly damaging	Het
Dip2b	T	A	15: 100,171,722	W643R	probably damaging	Het
Dip2c	A	G	13: 9,623,972	K1091E	probably damaging	Het
Dis3	T	A	14: 99,088,904	H415L	probably damaging	Het
Dnah7a	T	A	1: 53,503,578	I2478F	possibly damaging	Het
Dnah8	G	A	17: 30,748,568	D2585N	probably benign	Het
Doc2a	T	C	7: 126,848,580		probably benign	Het
Dph5	A	T	3: 115,899,807	M125L	probably benign	Het
Dst	A	T	1: 34,228,683	T5247S	possibly damaging	Het
Eno4	T	G	19: 58,964,457	V477G	possibly damaging	Het
Exosc8	T	C	3: 54,729,290	I207V	possibly damaging	Het
Fam173a	T	G	17: 25,791,678		probably null	Het
Fat4	T	A	3: 39,007,203	S4312T	probably benign	Het
Fgfr2	T	C	7: 130,241,277	D126G	probably damaging	Het
Fgfr4	A	G	13: 55,168,170	T799A	unknown	Het
Gcn1l1	A	T	5: 115,592,144	D839V	probably benign	Het
Gprin3	A	G	6: 59,354,173	V383A	probably benign	Het
Gpt	T	C	15: 76,698,840	V361A	probably benign	Het
Hepacam	G	A	9: 37,381,764	C217Y	probably damaging	Het
Hsp90aa1	A	T	12: 110,693,717	Y382N	probably damaging	Het
Htr2a	T	A	14: 74,642,022	N30K	probably benign	Het
Jhy	A	T	9: 40,961,003	M70K	possibly damaging	Het
Lrrc19	T	C	4: 94,640,937	Y36C	probably damaging	Het
Madcam1	C	T	10: 79,665,613	Q171*	probably null	Het
Mcm8	G	A	2: 132,838,709	M544I	probably benign	Het
Mdga1	C	T	17: 29,857,606	G64E	probably damaging	Het
Mettl7a1	T	A	15: 100,305,106	F87Y	probably benign	Het
Mmp3	A	G	9: 7,446,994	D58G	probably benign	Het
Ms4a10	T	C	19: 10,964,768	Y123C	probably damaging	Het
Ms4a4d	T	A	19: 11,557,932	I198K	probably benign	Het
Mthfd1l	A	T	10: 3,980,241	D112V	probably benign	Het
N4bp2l2	A	C	5: 150,643,141	S567R	probably benign	Het
Ndufaf2	A	G	13: 108,158,476	Y32H	probably damaging	Het
Nup153	T	A	13: 46,712,737	K182*	probably null	Het
Olfr1186	A	G	2: 88,525,735	T51A	probably benign	Het
Olfr481	T	A	7: 108,081,574	V260E	probably damaging	Het
Olfr551	A	G	7: 102,588,416	F109S	probably damaging	Het
Otoa	T	C	7: 121,155,135	S928P	probably damaging	Het
Oxct2a	T	C	4: 123,322,703	D295G	probably benign	Het
P4ha2	C	A	11: 54,125,020	T411K	probably benign	Het
Plcg2	A	T	8: 117,607,083	Q865L	probably benign	Het
Prepl	G	T	17: 85,078,504	T244K	possibly damaging	Het
Ptpro	A	T	6: 137,411,105	K776*	probably null	Het
Rc3h2	T	C	2: 37,389,832	K462E	possibly damaging	Het
Scn10a	A	G	9: 119,687,874		probably null	Het
Serpinb1c	A	G	13: 32,882,164	V266A	probably damaging	Het
Slc6a20b	T	A	9: 123,604,796	N326Y	probably damaging	Het
Spcs2	C	T	7: 99,858,831	G16D	possibly damaging	Het
Spns3	T	C	11: 72,499,495	D441G	possibly damaging	Het
Srsf4	A	G	4: 131,891,245	D49G	probably damaging	Het
Tec	A	T	5: 72,760,393	C494*	probably null	Het
Tecpr1	A	T	5: 144,204,658	Y798N	probably damaging	Het
Trim56	C	T	5: 137,114,489	E58K	probably damaging	Het
Ttn	A	T	2: 76,796,134	D13146E	probably damaging	Het
Ube2q1	A	T	3: 89,779,483	K46*	probably null	Het
Ucn	G	T	5: 31,138,498	T8K	probably benign	Het
Usp25	T	C	16: 77,033,982		probably null	Het
Usp48	A	T	4: 137,615,833	Q430L	probably benign	Het
Usp48	A	T	4: 137,615,834		probably null	Het
Vill	A	T	9: 119,061,511	D164V	probably damaging	Het
Vmn2r91	T	A	17: 18,136,489	M806K	possibly damaging	Het
Wdfy4	T	A	14: 33,029,013	Y2256F	probably damaging	Het
Wsb1	A	G	11: 79,251,000	S64P	probably damaging	Het
Zc3h11a	C	A	1: 133,624,612	V586F	probably benign	Het
Zc3h12d	A	G	10: 7,853,250	D126G	probably damaging	Het
Zfp296	G	T	7: 19,579,712	C164F	possibly damaging	Het
Zfp442	T	A	2: 150,409,715	H89L	possibly damaging	Het
Zfp82	T	A	7: 30,056,887		probably null	Het
Zmynd8	A	G	2: 165,834,951	V249A	possibly damaging	Het

Other mutations in Adam21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02186:Adam21	APN	12	81559209	missense	possibly damaging	0.61
IGL02311:Adam21	APN	12	81560892	missense	probably benign	0.01
IGL03132:Adam21	APN	12	81560374	nonsense	probably null
IGL03225:Adam21	APN	12	81559269	missense	probably benign	0.00
BB009:Adam21	UTSW	12	81560164	missense	probably damaging	0.98
BB019:Adam21	UTSW	12	81560164	missense	probably damaging	0.98
R0305:Adam21	UTSW	12	81560285	missense	possibly damaging	0.96
R0634:Adam21	UTSW	12	81560352	missense	probably benign	0.01
R1415:Adam21	UTSW	12	81559547	nonsense	probably null
R1961:Adam21	UTSW	12	81559508	nonsense	probably null
R1996:Adam21	UTSW	12	81559602	missense	possibly damaging	0.79
R2159:Adam21	UTSW	12	81560467	missense	probably benign	0.17
R2215:Adam21	UTSW	12	81560290	missense	probably damaging	1.00
R3780:Adam21	UTSW	12	81559273	missense	probably damaging	1.00
R3964:Adam21	UTSW	12	81560809	missense	possibly damaging	0.46
R4356:Adam21	UTSW	12	81558820	missense	probably damaging	0.99
R4503:Adam21	UTSW	12	81560898	missense	probably benign
R4795:Adam21	UTSW	12	81560974	missense	probably benign	0.06
R4925:Adam21	UTSW	12	81560389	missense	probably benign
R5110:Adam21	UTSW	12	81560215	missense	probably benign	0.40
R5831:Adam21	UTSW	12	81559101	missense	probably benign	0.06
R6289:Adam21	UTSW	12	81560706	missense	probably damaging	1.00
R6500:Adam21	UTSW	12	81559606	missense	probably benign	0.01
R7077:Adam21	UTSW	12	81559119	missense	probably damaging	1.00
R7083:Adam21	UTSW	12	81560241	missense	possibly damaging	0.81
R7173:Adam21	UTSW	12	81559234	missense	probably benign	0.24
R7176:Adam21	UTSW	12	81560248	missense	possibly damaging	0.94
R7232:Adam21	UTSW	12	81560556	missense	probably damaging	0.99
R7371:Adam21	UTSW	12	81560290	missense	probably damaging	1.00
R7486:Adam21	UTSW	12	81558883	missense	probably benign	0.00
R7522:Adam21	UTSW	12	81558948	missense	possibly damaging	0.78
R7918:Adam21	UTSW	12	81560604	missense	possibly damaging	0.64
R7932:Adam21	UTSW	12	81560164	missense	probably damaging	0.98
R8040:Adam21	UTSW	12	81560437	missense	probably benign	0.04
R8486:Adam21	UTSW	12	81560776	missense	probably benign	0.08
R8750:Adam21	UTSW	12	81560473	nonsense	probably null
R8881:Adam21	UTSW	12	81559876	missense	probably benign	0.02
R9084:Adam21	UTSW	12	81559386	missense	probably damaging	1.00
R9541:Adam21	UTSW	12	81560950	missense	probably benign
R9564:Adam21	UTSW	12	81559059	missense	probably damaging	1.00
Z1088:Adam21	UTSW	12	81560686	missense	probably damaging	1.00
Z1176:Adam21	UTSW	12	81559743	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTCTCAGAAATATGCCCAGATTCATAC -3'
(R):5'- AAGTGTGTCAGTCTGTCTGTCC -3'

Sequencing Primer
(F):5'- AAATATGCCCAGATTCATACATACAG -3'
(R):5'- GTCAGTCTGTCTGTCCTTTCAAATG -3'

Posted On

2016-04-15