Mutagenetix > Incidental Mutations

Incidental Mutation 'R7077:Adam21'

549290

Institutional Source

Beutler Lab

Gene Symbol

Adam21

Ensembl Gene

ENSMUSG00000008438

Gene Name

a disintegrin and metallopeptidase domain 21

Synonyms

ADAM31

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7077 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

81558584-81568474 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 81559119 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 623 (C623Y)

Ref Sequence

ENSEMBL: ENSMUSP00000008582 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000008582
AA Change: C623Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000008582
Gene: ENSMUSG00000008438
AA Change: C623Y

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (54/55)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago3	T	C	4: 126,371,532	K322R	probably null	Het
Ankrd17	T	C	5: 90,285,864	H682R	possibly damaging	Het
Aoah	A	G	13: 20,910,106	D187G	probably damaging	Het
Arhgap17	T	C	7: 123,280,008	D840G	unknown	Het
AW551984	C	T	9: 39,591,427	V650I	probably benign	Het
BC051142	C	A	17: 34,440,882	T93N	possibly damaging	Het
Bok	T	A	1: 93,689,189	Y86N	probably damaging	Het
Ccdc146	T	A	5: 21,305,274	N580I	possibly damaging	Het
Ccng2	T	C	5: 93,269,340	S72P	possibly damaging	Het
Cfap74	T	G	4: 155,455,677	I977S	unknown	Het
Cobl	T	C	11: 12,253,441	N1087S	probably benign	Het
Cyp21a1	C	A	17: 34,802,359	R346L	probably damaging	Het
Eif4a1	A	C	11: 69,670,664	F52L	probably damaging	Het
Eif4ebp2	A	C	10: 61,433,801	I120S	probably damaging	Het
Enpp2	A	C	15: 54,901,391	D146E	probably benign	Het
Exosc9	T	C	3: 36,553,056	Y30H	probably damaging	Het
Fam117a	G	A	11: 95,377,672	G300S	probably benign	Het
Focad	C	A	4: 88,410,677	A1709E	unknown	Het
Fsd1	G	A	17: 55,993,876	R245H	probably damaging	Het
Fsip2	T	C	2: 82,983,152	F3272L	probably benign	Het
Gcnt2	G	A	13: 40,860,420	M22I	probably benign	Het
Gjd4	T	C	18: 9,280,928	E50G	probably damaging	Het
Gm10375	G	T	14: 43,602,970	T162K	probably benign	Het
Gm10837	C	G	14: 122,490,730	A6G	unknown	Het
Gm4924	T	C	10: 82,379,223	F952L	unknown	Het
Heatr1	T	C	13: 12,418,164	F1132L	possibly damaging	Het
Hnrnpu	A	G	1: 178,332,191	Y442H	unknown	Het
Hp1bp3	C	A	4: 138,239,618	T408N	probably damaging	Het
Htra3	A	G	5: 35,668,316	V198A	probably damaging	Het
Katnal1	T	C	5: 148,891,737	T300A	probably benign	Het
Lipo5	G	T	19: 33,467,770	P133Q		Het
Lrp1b	A	T	2: 41,770,846	H197Q		Het
Mdc1	C	A	17: 35,845,947	A82D	probably damaging	Het
Mstn	A	T	1: 53,064,249	D248V	probably benign	Het
Myo1d	C	T	11: 80,674,634	E426K	probably damaging	Het
Ola1	G	A	2: 73,141,964	T221I	probably damaging	Het
Olfr1086	T	C	2: 86,676,892	Y147C	possibly damaging	Het
Olfr67	A	G	7: 103,787,386	I297T	probably damaging	Het
Olfr857	T	A	9: 19,713,132	S102T	probably benign	Het
Olfr898	T	A	9: 38,349,970	Y290N	probably damaging	Het
Phldb1	T	C	9: 44,711,904	T618A	possibly damaging	Het
Pkd1	T	G	17: 24,591,119	W3565G	probably damaging	Het
Prl3a1	A	T	13: 27,276,103	N190I	probably benign	Het
Ptk2	G	A	15: 73,221,809	P854S	possibly damaging	Het
Ptpn11	C	T	5: 121,143,570	R484Q	probably benign	Het
Rapgef4	T	C	2: 72,241,476	M900T	probably damaging	Het
Slc1a2	A	T	2: 102,777,510	D501V	probably benign	Het
Smarcd3	G	T	5: 24,594,962	A270D	probably damaging	Het
Srgap2	A	G	1: 131,344,449	M33T		Het
Tle1	G	C	4: 72,158,375	P139A	probably benign	Het
Tmem161b	C	A	13: 84,222,418		probably benign	Het
Zfp658	T	A	7: 43,573,989	S563T	probably benign	Het
Zswim9	G	A	7: 13,259,752	R826C	probably 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
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
R4932:Adam21	UTSW	12	81558918	missense	probably benign	0.14
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
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
R8040:Adam21	UTSW	12	81560437	missense	not run
Z1088:Adam21	UTSW	12	81560686	missense	probably damaging	1.00
Z1176:Adam21	UTSW	12	81559743	missense	not run

Predicted Primers

PCR Primer
(F):5'- TGGACCACTGTCAATACTACCTC -3'
(R):5'- AACAGGTTTGGCCATTGTGG -3'

Sequencing Primer
(F):5'- TCCATAACCTCTGTGCAGGCAG -3'
(R):5'- GGCACAGTATTCCTAAAATGCAG -3'

Posted On

2019-05-15