Mutagenetix > Incidental Mutation

Incidental Mutation 'R3106:Adam22'

263049

Institutional Source

Beutler Lab

Gene Symbol

Adam22

Ensembl Gene

ENSMUSG00000040537

Gene Name

a disintegrin and metallopeptidase domain 22

Synonyms

2900022I03Rik, MDC2

MMRRC Submission

040580-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3106 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

8072352-8368160 bp(-) (GRCm38)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

A to G at 8117583 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046838] [ENSMUST00000050166] [ENSMUST00000088744] [ENSMUST00000088761] [ENSMUST00000115386] [ENSMUST00000115388] [ENSMUST00000123168] [ENSMUST00000126384] [ENSMUST00000130315] [ENSMUST00000136524] [ENSMUST00000136808] [ENSMUST00000197700] [ENSMUST00000144241] [ENSMUST00000139048] [ENSMUST00000139841] [ENSMUST00000153427] [ENSMUST00000154935] [ENSMUST00000153889] [ENSMUST00000199853]

AlphaFold

Q9R1V6

Predicted Effect

probably null
Transcript: ENSMUST00000046838

SMART Domains

Protein: ENSMUSP00000049120
Gene: ENSMUSG00000040537

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:Pep_M12B_propep	44	186	7e-27	PFAM
low complexity region	214	230	N/A	INTRINSIC
Pfam:Reprolysin_5	235	405	9.3e-9	PFAM
Pfam:Reprolysin	237	436	1.1e-58	PFAM
Pfam:Reprolysin_3	261	379	3e-12	PFAM
DISIN	451	527	3.38e-31	SMART
ACR	528	669	3.05e-58	SMART
EGF	676	710	1.28e1	SMART
transmembrane domain	735	757	N/A	INTRINSIC
low complexity region	789	808	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000050166

SMART Domains

Protein: ENSMUSP00000055000
Gene: ENSMUSG00000040537

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:Pep_M12B_propep	44	186	7.6e-27	PFAM
low complexity region	214	230	N/A	INTRINSIC
Pfam:Reprolysin_5	235	405	1.1e-8	PFAM
Pfam:Reprolysin	237	436	1.1e-58	PFAM
Pfam:Reprolysin_3	261	379	3.4e-12	PFAM
DISIN	451	527	3.38e-31	SMART
ACR	528	669	3.05e-58	SMART
EGF	676	710	1.28e1	SMART
transmembrane domain	735	757	N/A	INTRINSIC
low complexity region	824	839	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000088744

SMART Domains

Protein: ENSMUSP00000086122
Gene: ENSMUSG00000040537

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:Pep_M12B_propep	41	186	4.2e-29	PFAM
low complexity region	214	230	N/A	INTRINSIC
Pfam:Reprolysin_5	235	405	1.2e-8	PFAM
Pfam:Reprolysin	237	436	2.9e-65	PFAM
Pfam:Reprolysin_3	261	378	9.2e-13	PFAM
DISIN	451	527	3.38e-31	SMART
ACR	528	669	3.05e-58	SMART
EGF	676	710	1.28e1	SMART
transmembrane domain	736	758	N/A	INTRINSIC
low complexity region	785	800	N/A	INTRINSIC
low complexity region	883	898	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000088761

SMART Domains

Protein: ENSMUSP00000086139
Gene: ENSMUSG00000040537

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:Pep_M12B_propep	44	186	8.1e-27	PFAM
low complexity region	214	230	N/A	INTRINSIC
Pfam:Reprolysin_5	235	405	1.2e-8	PFAM
Pfam:Reprolysin	237	436	1.1e-58	PFAM
Pfam:Reprolysin_3	261	379	3.6e-12	PFAM
DISIN	451	527	3.38e-31	SMART
ACR	528	669	3.05e-58	SMART
EGF	676	710	1.28e1	SMART
transmembrane domain	735	757	N/A	INTRINSIC
low complexity region	789	808	N/A	INTRINSIC
low complexity region	860	875	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000115386

SMART Domains

Protein: ENSMUSP00000111044
Gene: ENSMUSG00000040537

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:Pep_M12B_propep	44	186	3.4e-27	PFAM
low complexity region	214	230	N/A	INTRINSIC
Pfam:Reprolysin_5	235	405	5.1e-9	PFAM
Pfam:Reprolysin	237	436	5e-59	PFAM
Pfam:Reprolysin_3	261	379	1.6e-12	PFAM
DISIN	451	527	3.38e-31	SMART
ACR	528	669	3.05e-58	SMART
EGF	676	710	1.28e1	SMART
transmembrane domain	735	757	N/A	INTRINSIC
low complexity region	850	870	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000115388

SMART Domains

Protein: ENSMUSP00000111046
Gene: ENSMUSG00000040537

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:Pep_M12B_propep	44	186	8e-27	PFAM
low complexity region	214	230	N/A	INTRINSIC
Pfam:Reprolysin_5	235	405	1.1e-8	PFAM
Pfam:Reprolysin	237	436	1.1e-58	PFAM
Pfam:Reprolysin_3	261	379	3.5e-12	PFAM
DISIN	451	527	3.38e-31	SMART
ACR	528	669	3.05e-58	SMART
EGF	676	710	1.28e1	SMART
transmembrane domain	735	757	N/A	INTRINSIC
low complexity region	852	872	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000123168

SMART Domains

Protein: ENSMUSP00000122758
Gene: ENSMUSG00000040537

Domain	Start	End	E-Value	Type
transmembrane domain	27	49	N/A	INTRINSIC
low complexity region	123	143	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000124121

SMART Domains

Protein: ENSMUSP00000122652
Gene: ENSMUSG00000040537

Domain	Start	End	E-Value	Type
Blast:ACR	2	52	5e-28	BLAST
EGF	59	93	1.28e1	SMART
transmembrane domain	118	140	N/A	INTRINSIC
low complexity region	207	222	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000126384

SMART Domains

Protein: ENSMUSP00000118571
Gene: ENSMUSG00000040537

Domain	Start	End	E-Value	Type
transmembrane domain	27	49	N/A	INTRINSIC
low complexity region	83	98	N/A	INTRINSIC
low complexity region	181	196	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000130315

SMART Domains

Protein: ENSMUSP00000121156
Gene: ENSMUSG00000040537

Domain	Start	End	E-Value	Type
transmembrane domain	27	49	N/A	INTRINSIC
low complexity region	150	170	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000136524

SMART Domains

Protein: ENSMUSP00000116422
Gene: ENSMUSG00000040537

Domain	Start	End	E-Value	Type
transmembrane domain	27	49	N/A	INTRINSIC
low complexity region	152	172	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000136808

SMART Domains

Protein: ENSMUSP00000122426
Gene: ENSMUSG00000040537

Domain	Start	End	E-Value	Type
transmembrane domain	27	49	N/A	INTRINSIC
low complexity region	83	98	N/A	INTRINSIC
low complexity region	207	227	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000197700

SMART Domains

Protein: ENSMUSP00000142580
Gene: ENSMUSG00000040537

Domain	Start	End	E-Value	Type
transmembrane domain	27	49	N/A	INTRINSIC
low complexity region	129	145	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000144241

SMART Domains

Protein: ENSMUSP00000138353
Gene: ENSMUSG00000040537

Domain	Start	End	E-Value	Type
transmembrane domain	27	49	N/A	INTRINSIC
low complexity region	75	94	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000139048

SMART Domains

Protein: ENSMUSP00000116736
Gene: ENSMUSG00000040537

Domain	Start	End	E-Value	Type
transmembrane domain	27	49	N/A	INTRINSIC
low complexity region	81	100	N/A	INTRINSIC
low complexity region	186	206	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000139841

SMART Domains

Protein: ENSMUSP00000115775
Gene: ENSMUSG00000040537

Domain	Start	End	E-Value	Type
transmembrane domain	27	49	N/A	INTRINSIC
low complexity region	144	164	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000153427

SMART Domains

Protein: ENSMUSP00000120995
Gene: ENSMUSG00000040537

Domain	Start	End	E-Value	Type
transmembrane domain	27	49	N/A	INTRINSIC
low complexity region	75	94	N/A	INTRINSIC
low complexity region	209	229	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000154935

SMART Domains

Protein: ENSMUSP00000119409
Gene: ENSMUSG00000040537

Domain	Start	End	E-Value	Type
transmembrane domain	27	49	N/A	INTRINSIC
low complexity region	83	98	N/A	INTRINSIC
low complexity region	225	245	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000153889

SMART Domains

Protein: ENSMUSP00000123196
Gene: ENSMUSG00000040537

Domain	Start	End	E-Value	Type
transmembrane domain	27	49	N/A	INTRINSIC
low complexity region	81	100	N/A	INTRINSIC
low complexity region	152	167	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000199853

SMART Domains

Protein: ENSMUSP00000143097
Gene: ENSMUSG00000040537

Domain	Start	End	E-Value	Type
transmembrane domain	27	49	N/A	INTRINSIC

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.7%

Validation Efficiency

100% (53/53)

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 protein. The protein encoded by this gene is believed to lack metalloproteinase activity due to the lack of a critical catalytic motif. Mice lacking the encoded protein exhibit severe ataxia, hypomyelination and premature death. Alternative splicing results in multiple transcript variants encoding different isoforms, some of which may undergo similar processing. [provided by RefSeq, May 2016]
PHENOTYPE: Homozygous mutant mice exhibit severe ataxia, die before weaning and have marked hypomyelination of the peripheral nerves. [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
Abca15	A	T	7: 120,396,633	E1331V	possibly damaging	Het
Adamts17	T	A	7: 67,125,072	S980T	probably damaging	Het
Adarb1	C	A	10: 77,321,757	K285N	probably damaging	Het
Atp5c1	A	G	2: 10,063,465	S160P	probably benign	Het
Baz2a	AGCGGCGGTACTTGCGGG	AG	10: 128,125,077		probably null	Het
Btf3	T	G	13: 98,310,988	E145D	probably benign	Het
Ccdc184	G	T	15: 98,168,601	A96S	probably damaging	Het
Ccdc191	T	C	16: 43,931,210	F301S	probably damaging	Het
Ceacam5	T	C	7: 17,747,323	Y332H	probably benign	Het
Clip2	T	C	5: 134,523,064	K68R	probably benign	Het
Cntln	C	T	4: 84,957,169	T280M	possibly damaging	Het
Col6a3	T	C	1: 90,816,302	R515G	probably damaging	Het
Ctnnal1	G	A	4: 56,813,246	L662F	probably benign	Het
Dennd3	C	A	15: 73,565,124	S118*	probably null	Het
Dgkg	T	A	16: 22,575,341	T321S	probably damaging	Het
Dzip1l	A	T	9: 99,642,572	K249*	probably null	Het
Dzip1l	A	G	9: 99,647,121	E301G	probably benign	Het
Emc10	G	A	7: 44,493,192	R109W	probably damaging	Het
Ezh1	A	C	11: 101,195,642	C575W	probably damaging	Het
Fam187b	A	G	7: 30,977,240	D58G	probably benign	Het
Galnt4	T	C	10: 99,109,381	Y323H	probably benign	Het
Gm13119	T	C	4: 144,361,676	V14A	probably benign	Het
Grm1	A	G	10: 11,079,857	S228P	probably benign	Het
Hist1h1c	G	T	13: 23,738,900	A18S	unknown	Het
Hnf4g	T	G	3: 3,652,856	S388R	probably benign	Het
Il1rap	A	G	16: 26,722,752	E581G	probably benign	Het
Lemd2	C	A	17: 27,201,670	L256F	probably damaging	Het
Mnd1	C	A	3: 84,134,109	C62F	probably benign	Het
Nphs1	C	A	7: 30,467,540	S724*	probably null	Het
Olfr1136	T	C	2: 87,693,505	I126V	probably damaging	Het
Olfr1284	A	G	2: 111,379,495	N165S	probably benign	Het
Osgep	T	C	14: 50,916,829	T225A	probably benign	Het
Pan3	T	C	5: 147,539,379		probably benign	Het
Pld3	A	G	7: 27,535,787		probably null	Het
Plekha7	C	T	7: 116,164,404	R321K	probably benign	Het
Plekhg5	C	T	4: 152,112,178	T694M	probably damaging	Het
Ptpn20	A	G	14: 33,612,296	I44V	probably benign	Het
Ptprj	T	A	2: 90,440,631	H1251L	probably damaging	Het
Sbspon	T	C	1: 15,892,582	E24G	probably benign	Het
Sfmbt1	G	A	14: 30,817,796	C847Y	probably damaging	Het
Sparcl1	T	C	5: 104,093,337	T74A	probably benign	Het
Sppl2b	A	G	10: 80,867,491	E529G	probably benign	Het
Stradb	C	A	1: 58,992,291	H212Q	possibly damaging	Het
Tkfc	G	T	19: 10,596,993	C198*	probably null	Het
Tm4sf4	C	T	3: 57,437,622	R150C	possibly damaging	Het
Tmem212	T	C	3: 27,884,870	S156G	probably damaging	Het
Tmem51	T	C	4: 142,037,724	N8D	probably damaging	Het
Tmigd1	A	G	11: 76,910,298	T204A	possibly damaging	Het
Trp53bp1	A	G	2: 121,236,652	L531S	probably damaging	Het
Tsga10	G	A	1: 37,801,791	L445F	probably damaging	Het
Urb1	C	T	16: 90,795,443	V310I	probably damaging	Het
Vmn2r-ps159	T	A	4: 156,333,435		noncoding transcript	Het
Wdr19	T	C	5: 65,202,623	S24P	probably benign	Het

Other mutations in Adam22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01325:Adam22	APN	5	8127333	missense	probably benign	0.44
IGL01368:Adam22	APN	5	8127411	missense	probably damaging	1.00
IGL01406:Adam22	APN	5	8130212	nonsense	probably null
IGL01463:Adam22	APN	5	8092790	missense	probably damaging	1.00
IGL01691:Adam22	APN	5	8092742	missense	probably damaging	1.00
IGL01798:Adam22	APN	5	8232604	splice site	probably null
IGL01975:Adam22	APN	5	8167396	missense	probably damaging	1.00
IGL02076:Adam22	APN	5	8136900	missense	probably damaging	1.00
IGL02170:Adam22	APN	5	8134845	missense	probably benign
IGL02189:Adam22	APN	5	8330029	missense	possibly damaging	0.91
IGL02859:Adam22	APN	5	8167375	missense	probably damaging	1.00
IGL03189:Adam22	APN	5	8111897	nonsense	probably null
IGL03326:Adam22	APN	5	8127421	missense	probably damaging	1.00
IGL03329:Adam22	APN	5	8149210	missense	possibly damaging	0.48
IGL03354:Adam22	APN	5	8158890	missense	possibly damaging	0.82
IGL03394:Adam22	APN	5	8167379	missense	probably benign	0.00
IGL03047:Adam22	UTSW	5	8082220	missense	probably damaging	1.00
R0445:Adam22	UTSW	5	8180591	intron	probably benign
R0486:Adam22	UTSW	5	8330048	missense	probably damaging	1.00
R0669:Adam22	UTSW	5	8143036	splice site	probably benign
R0866:Adam22	UTSW	5	8082156	missense	probably damaging	0.98
R1510:Adam22	UTSW	5	8152408	missense	probably benign	0.06
R1562:Adam22	UTSW	5	8095007	missense	probably damaging	1.00
R1640:Adam22	UTSW	5	8145689	missense	probably damaging	1.00
R1903:Adam22	UTSW	5	8134525	missense	probably damaging	1.00
R1939:Adam22	UTSW	5	8330015	missense	probably damaging	1.00
R1998:Adam22	UTSW	5	8329995	missense	probably damaging	1.00
R2012:Adam22	UTSW	5	8117634	missense	probably damaging	1.00
R2214:Adam22	UTSW	5	8136805	critical splice donor site	probably null
R2270:Adam22	UTSW	5	8121108	missense	probably damaging	0.98
R2271:Adam22	UTSW	5	8121108	missense	probably damaging	0.98
R2286:Adam22	UTSW	5	8145616	missense	probably damaging	1.00
R2304:Adam22	UTSW	5	8092366	missense	probably damaging	1.00
R2406:Adam22	UTSW	5	8180064	intron	probably benign
R2656:Adam22	UTSW	5	8117696	missense	probably damaging	1.00
R3870:Adam22	UTSW	5	8132418	missense	probably damaging	1.00
R3923:Adam22	UTSW	5	8130514	missense	possibly damaging	0.68
R4092:Adam22	UTSW	5	8095004	missense	probably damaging	1.00
R4180:Adam22	UTSW	5	8149218	missense	probably damaging	1.00
R4247:Adam22	UTSW	5	8145626	missense	probably benign
R4486:Adam22	UTSW	5	8180227	intron	probably benign
R4629:Adam22	UTSW	5	8232663	missense	possibly damaging	0.95
R4744:Adam22	UTSW	5	8078699	missense	probably damaging	0.98
R4839:Adam22	UTSW	5	8136813	missense	probably damaging	1.00
R5007:Adam22	UTSW	5	8167393	missense	probably damaging	1.00
R5030:Adam22	UTSW	5	8179645	intron	probably benign
R5061:Adam22	UTSW	5	8180238	intron	probably benign
R5312:Adam22	UTSW	5	8090182	missense	probably damaging	1.00
R5353:Adam22	UTSW	5	8090182	missense	probably damaging	1.00
R5354:Adam22	UTSW	5	8090182	missense	probably damaging	1.00
R5356:Adam22	UTSW	5	8090182	missense	probably damaging	1.00
R5423:Adam22	UTSW	5	8090182	missense	probably damaging	1.00
R5424:Adam22	UTSW	5	8090182	missense	probably damaging	1.00
R5719:Adam22	UTSW	5	8367217	missense	probably benign
R5763:Adam22	UTSW	5	8134544	missense	probably damaging	1.00
R5768:Adam22	UTSW	5	8127426	missense	probably benign	0.35
R5776:Adam22	UTSW	5	8127361	missense	probably benign	0.26
R5839:Adam22	UTSW	5	8136861	missense	probably damaging	0.99
R6314:Adam22	UTSW	5	8127365	nonsense	probably null
R6520:Adam22	UTSW	5	8116635	missense	probably damaging	0.98
R6798:Adam22	UTSW	5	8160784	missense	probably damaging	1.00
R6924:Adam22	UTSW	5	8367322	missense	possibly damaging	0.78
R6938:Adam22	UTSW	5	8146499	missense	probably benign	0.01
R7317:Adam22	UTSW	5	8090202	missense	probably benign
R7402:Adam22	UTSW	5	8095049	missense	possibly damaging	0.95
R7431:Adam22	UTSW	5	8092818	missense	probably damaging	1.00
R7527:Adam22	UTSW	5	8082239	missense	possibly damaging	0.66
R7571:Adam22	UTSW	5	8082160	nonsense	probably null
R7627:Adam22	UTSW	5	8367933	missense	probably benign
R7678:Adam22	UTSW	5	8087750	splice site	probably null
R7714:Adam22	UTSW	5	8117587	critical splice donor site	probably null
R7806:Adam22	UTSW	5	8092825	missense	probably damaging	1.00
R7834:Adam22	UTSW	5	8130535	missense	probably damaging	1.00
R7837:Adam22	UTSW	5	8149284	critical splice acceptor site	probably null
R7979:Adam22	UTSW	5	8136804	critical splice donor site	probably null
R8123:Adam22	UTSW	5	8092833	critical splice acceptor site	probably null
R8511:Adam22	UTSW	5	8134558	missense	probably damaging	0.98
R8722:Adam22	UTSW	5	8116554	missense	probably benign
R8730:Adam22	UTSW	5	8158830	missense	probably benign	0.00
R8956:Adam22	UTSW	5	8092343	missense	probably damaging	1.00
R9015:Adam22	UTSW	5	8086688	intron	probably benign
R9068:Adam22	UTSW	5	8127343	missense	probably benign	0.01
R9198:Adam22	UTSW	5	8117583	splice site	probably null
R9441:Adam22	UTSW	5	8111974	missense	possibly damaging	0.70
R9480:Adam22	UTSW	5	8143077	missense	probably benign	0.01
X0067:Adam22	UTSW	5	8127329	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- CTGTAAGGCATCCTATTAGCATAAG -3'
(R):5'- AGTGGCGCGCATGTTAAAC -3'

Sequencing Primer
(F):5'- AGGCATCCTATTAGCATAAGAAAAG -3'
(R):5'- TGGCGCGCATGTTAAACTTGAAG -3'

Posted On

2015-02-05