Mutagenetix > Incidental Mutation

Incidental Mutation 'R7083:Adam21'

549700

Institutional Source

Beutler Lab

Gene Symbol

Adam21

Ensembl Gene

ENSMUSG00000008438

Gene Name

a disintegrin and metallopeptidase domain 21

Synonyms

ADAM31

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7083 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

81558584-81568474 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 81560241 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 249 (M249K)

Ref Sequence

ENSEMBL: ENSMUSP00000008582 (fasta)

Gene Model

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

AlphaFold

Q9JI76

Predicted Effect

possibly damaging
Transcript: ENSMUST00000008582
AA Change: M249K

PolyPhen 2 Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000008582
Gene: ENSMUSG00000008438
AA Change: M249K

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: 100.0%
10x: 99.7%
20x: 99.1%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef38	T	A	3: 133,132,436	Q613L	unknown	Het
Arpp21	A	G	9: 112,183,544	V70A	probably benign	Het
AW551984	T	C	9: 39,597,647	N327S	probably damaging	Het
Bnc1	T	C	7: 81,973,310	K723R	probably damaging	Het
Btbd7	A	G	12: 102,788,335	L724P	probably damaging	Het
Btnl10	G	T	11: 58,919,137	V35F	probably damaging	Het
Cd22	T	A	7: 30,868,048	T704S	probably damaging	Het
Cd4	T	G	6: 124,870,572	S210R	probably benign	Het
Cped1	A	G	6: 22,123,580	Q444R	probably benign	Het
Dusp26	A	G	8: 31,091,719		probably benign	Het
Dync1i1	C	T	6: 5,969,429	A418V	probably damaging	Het
Fibp	A	G	19: 5,463,631	D232G	probably damaging	Het
Frem2	T	A	3: 53,537,493	T2406S	probably damaging	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 142,240,713		probably benign	Het
Gpr39	T	A	1: 125,677,418	W28R	probably damaging	Het
Greb1	A	G	12: 16,723,314	V253A	probably benign	Het
Hexim1	T	G	11: 103,117,166	L82W	possibly damaging	Het
Hmga1	G	T	17: 27,560,971	R49L	possibly damaging	Het
Itch	A	T	2: 155,210,444	N655Y	probably damaging	Het
Izumo2	A	G	7: 44,710,333	E129G	probably damaging	Het
Klk1b24	G	A	7: 44,191,801	C186Y	probably damaging	Het
Lnx1	G	A	5: 74,628,185	S31F	possibly damaging	Het
Lrmp	A	T	6: 145,169,783	N349I	probably damaging	Het
Lrrc37a	T	C	11: 103,503,340	I420V	probably benign	Het
Ltk	A	C	2: 119,752,074	C776G	probably damaging	Het
Mast4	A	C	13: 102,737,715	L1715R	probably damaging	Het
Med28	T	C	5: 45,523,536		probably null	Het
Naf1	GCCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGA	GCCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGA	8: 66,860,486		probably benign	Het
Nckap1l	C	A	15: 103,482,124	T774K	probably damaging	Het
Nfkbiz	T	C	16: 55,818,300	K266E	possibly damaging	Het
Ntrk3	T	A	7: 78,250,839	D584V	probably damaging	Het
Olfr107	T	C	17: 37,406,172	V208A	probably benign	Het
Olfr1261	A	G	2: 89,993,857	I155V	probably benign	Het
Olfr132	T	A	17: 38,130,710	T161S	probably benign	Het
Olfr193	T	C	16: 59,110,037	D191G	probably damaging	Het
Olfr733	G	A	14: 50,299,279	T10I	possibly damaging	Het
Picalm	T	A	7: 90,176,768	I376K	probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195		probably benign	Het
Prps1l3	A	T	12: 57,239,248	I275L	probably benign	Het
Psg26	G	A	7: 18,480,009	R243*	probably null	Het
Ranbp2	A	G	10: 58,479,230	H1924R	probably damaging	Het
Rasef	T	C	4: 73,790,984	D4G	probably benign	Het
Rttn	T	C	18: 89,090,598	L1642P	probably damaging	Het
Shroom3	T	C	5: 92,964,525	L1915P	probably damaging	Het
Slc26a10	A	G	10: 127,177,168	V319A	probably damaging	Het
Slc4a10	A	G	2: 62,234,495	N231S	probably benign	Het
Sox18	T	C	2: 181,670,372	Q322R	possibly damaging	Het
Syde1	G	T	10: 78,587,069	P490T	probably benign	Het
Syne2	A	G	12: 75,943,888	I1881M	probably damaging	Het
Taf1c	T	C	8: 119,600,668	D387G	probably damaging	Het
Tenm4	T	A	7: 96,895,349	Y2228N	probably damaging	Het
Tmem173	T	C	18: 35,734,650	H331R	probably damaging	Het
Tubgcp5	C	T	7: 55,800,695	Q185*	probably null	Het
Vmn2r44	T	A	7: 8,378,370	I175F	probably benign	Het
Zdhhc7	C	A	8: 120,085,427	C152F	probably damaging	Het
Zfp52	T	A	17: 21,560,130	M80K	possibly damaging	Het
Zfp612	T	C	8: 110,089,136	I325T	probably damaging	Het
Zmiz1	T	G	14: 25,651,948	F597V	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
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
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
R7077:Adam21	UTSW	12	81559119	missense	probably damaging	1.00
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'- GACGACATATTCCTGCAATGTAG -3'
(R):5'- ACCCTTTGGAGTTGAAGAGGC -3'

Sequencing Primer
(F):5'- TCCTGCAATGTAGGCTATACCAAG -3'
(R):5'- TTGAAGAGGCTAAGAAGTCAGCTATG -3'

Posted On

2019-05-15