Mutagenetix > Incidental Mutations

Incidental Mutation 'R1903:Adam22'

209916

Institutional Source

Beutler Lab

Gene Symbol

Adam22

Ensembl Gene

ENSMUSG00000040537

Gene Name

a disintegrin and metallopeptidase domain 22

Synonyms

2900022I03Rik, MDC2

MMRRC Submission

039923-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1903 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

8072352-8368160 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 8134525 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 489 (C489Y)

Ref Sequence

ENSEMBL: ENSMUSP00000111046 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046838] [ENSMUST00000050166] [ENSMUST00000088744] [ENSMUST00000088761] [ENSMUST00000115386] [ENSMUST00000115388]

Predicted Effect

probably damaging
Transcript: ENSMUST00000046838
AA Change: C489Y

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

SMART Domains

Protein: ENSMUSP00000049120
Gene: ENSMUSG00000040537
AA Change: C489Y

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 damaging
Transcript: ENSMUST00000050166
AA Change: C489Y

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

SMART Domains

Protein: ENSMUSP00000055000
Gene: ENSMUSG00000040537
AA Change: C489Y

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 damaging
Transcript: ENSMUST00000088744
AA Change: C489Y

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

SMART Domains

Protein: ENSMUSP00000086122
Gene: ENSMUSG00000040537
AA Change: C489Y

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 damaging
Transcript: ENSMUST00000088761
AA Change: C489Y

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

SMART Domains

Protein: ENSMUSP00000086139
Gene: ENSMUSG00000040537
AA Change: C489Y

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 damaging
Transcript: ENSMUST00000115386
AA Change: C489Y

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

SMART Domains

Protein: ENSMUSP00000111044
Gene: ENSMUSG00000040537
AA Change: C489Y

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 damaging
Transcript: ENSMUST00000115388
AA Change: C489Y

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

SMART Domains

Protein: ENSMUSP00000111046
Gene: ENSMUSG00000040537
AA Change: C489Y

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

Coding Region Coverage

1x: 97.3%
3x: 96.7%
10x: 95.0%
20x: 91.8%

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 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: 120 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	A	C	9: 57,258,352	S246R	possibly damaging	Het
Abca13	C	T	11: 9,466,411	R4058C	probably benign	Het
Acacb	A	T	5: 114,165,734	R73*	probably null	Het
Agap3	A	T	5: 24,493,013	K460I	probably damaging	Het
Ak4	T	C	4: 101,463,636	I214T	possibly damaging	Het
Anpep	C	T	7: 79,838,256	E518K	probably benign	Het
Arrb2	T	A	11: 70,437,982	H221Q	probably damaging	Het
Atl1	T	G	12: 69,959,275	F452V	probably damaging	Het
Atp8b5	A	G	4: 43,357,063	T604A	probably damaging	Het
BC005561	T	A	5: 104,518,330	S239R	probably benign	Het
Bglap3	T	C	3: 88,368,761	I95V	probably benign	Het
Ccdc88a	G	T	11: 29,461,788	M532I	probably benign	Het
Ccnl1	A	G	3: 65,946,911	S430P	possibly damaging	Het
Cdk5rap2	A	T	4: 70,403,554		probably null	Het
Cep126	A	T	9: 8,120,747	Y92N	possibly damaging	Het
Cfap44	A	C	16: 44,422,374	T714P	probably benign	Het
Cnga1	T	G	5: 72,616,725	D90A	possibly damaging	Het
Cnot1	T	C	8: 95,743,121	I1369V	possibly damaging	Het
Coq3	T	C	4: 21,910,466	S314P	probably damaging	Het
Crhr1	A	G	11: 104,169,849	R151G	probably damaging	Het
Crybg2	A	G	4: 134,078,856	I930V	probably damaging	Het
Ctcf	T	A	8: 105,675,988		probably null	Het
Dct	T	C	14: 118,034,278	N380S	probably benign	Het
Decr2	A	T	17: 26,087,413	L83Q	probably damaging	Het
Depdc5	CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	5: 32,910,407		probably benign	Het
Dgkb	T	C	12: 38,166,777		probably null	Het
Dnah1	T	C	14: 31,319,759	D85G	probably damaging	Het
Dnah7a	T	C	1: 53,535,478	D1709G	probably damaging	Het
Dnajc13	A	C	9: 104,228,937	L346R	probably damaging	Het
Dsc1	A	T	18: 20,095,988	V415D	probably damaging	Het
Duox2	T	A	2: 122,295,351	I296F	probably damaging	Het
Ece2	T	A	16: 20,645,172	L890H	probably damaging	Het
Ecsit	A	G	9: 22,076,519	S75P	possibly damaging	Het
Enpp3	A	G	10: 24,778,789	C664R	probably damaging	Het
Evpl	G	T	11: 116,227,028	D778E	probably damaging	Het
Eya3	T	A	4: 132,721,352		probably null	Het
Fam217b	A	T	2: 178,420,581	I113F	probably benign	Het
Galnt6	G	A	15: 100,716,118	P101S	possibly damaging	Het
Gm11487	T	A	4: 73,403,438	Y120F	probably damaging	Het
Gm281	C	T	14: 13,829,657	S695N	possibly damaging	Het
Gm379	G	A	X: 108,664,264	Q210*	probably null	Het
Grk4	A	T	5: 34,676,187		probably null	Het
Gtf3c4	A	G	2: 28,839,956	V91A	probably benign	Het
Hcfc2	G	T	10: 82,702,558	G143V	probably damaging	Het
Heatr4	A	C	12: 83,958,447	H710Q	probably damaging	Het
Htr3a	A	T	9: 48,906,381	D97E	probably damaging	Het
Htr4	T	G	18: 62,428,122	F151L	probably benign	Het
Il22ra1	A	T	4: 135,750,908	Q430L	probably damaging	Het
Invs	T	A	4: 48,402,824		probably null	Het
Ip6k1	G	A	9: 108,040,996	E77K	possibly damaging	Het
Irs1	T	C	1: 82,289,461	S345G	probably damaging	Het
Kdm4a	A	G	4: 118,160,399	V490A	probably benign	Het
Kif26a	C	T	12: 112,175,540	R743C	probably damaging	Het
Kif28	A	G	1: 179,702,523	V691A	possibly damaging	Het
Klhl5	T	A	5: 65,166,987	L696Q	probably benign	Het
Krtap5-1	T	C	7: 142,296,347		probably benign	Het
Lama2	A	C	10: 27,188,399	D1195E	probably damaging	Het
Lamb1	T	G	12: 31,329,210	L1722R	probably damaging	Het
Lrp11	T	A	10: 7,623,780	L245Q	probably damaging	Het
Ltbp2	T	C	12: 84,830,105	E422G	probably benign	Het
Man2b1	T	A	8: 85,086,822	D214E	probably damaging	Het
Mlxipl	A	T	5: 135,133,568	D628V	possibly damaging	Het
Myo18b	G	A	5: 112,692,758	R2390C	probably damaging	Het
Mypn	T	A	10: 63,123,397	R1048S	probably benign	Het
Napepld	A	G	5: 21,665,272	S383P	probably damaging	Het
Napsa	A	G	7: 44,581,736	T130A	probably damaging	Het
Nbr1	T	C	11: 101,575,152	I716T	probably damaging	Het
Nexn	A	T	3: 152,248,181	M212K	probably damaging	Het
Nlrp9b	T	A	7: 20,023,257	S140T	probably benign	Het
Nxpe2	T	C	9: 48,319,606	T488A	probably benign	Het
Olfr1051	C	T	2: 86,275,846	V214I	probably benign	Het
Olfr1420	A	T	19: 11,896,549	Y176F	probably benign	Het
Olfr1512	T	G	14: 52,372,717	Q112P	possibly damaging	Het
Olfr209	A	T	16: 59,362,163	D18E	probably benign	Het
Olfr834	A	T	9: 18,988,896	K303*	probably null	Het
Osbpl5	T	C	7: 143,703,181	D404G	possibly damaging	Het
Pan2	T	G	10: 128,308,368	L162R	probably damaging	Het
Parp1	G	T	1: 180,588,670	V545F	probably damaging	Het
Pcdh18	A	G	3: 49,755,447	V473A	probably benign	Het
Plb1	A	T	5: 32,291,238	N350I	probably damaging	Het
Polr1a	A	G	6: 71,967,914	K1318R	probably benign	Het
Ppp1r18	C	T	17: 35,873,846	P130S	probably damaging	Het
Prss48	C	T	3: 85,998,307	W86*	probably null	Het
Rab3c	A	T	13: 110,084,210	I137N	probably damaging	Het
Rab3gap2	G	C	1: 185,221,902	R57P	probably benign	Het
Rad54l2	A	C	9: 106,693,717		probably null	Het
Ralgapb	C	A	2: 158,495,563	N1147K	probably benign	Het
Rfx7	C	T	9: 72,616,811	R428C	probably damaging	Het
Robo1	A	G	16: 72,960,204	Q351R	probably null	Het
Samd4	T	C	14: 47,074,128	F81S	probably damaging	Het
Shprh	T	A	10: 11,183,797	Y1097*	probably null	Het
Sik3	C	G	9: 46,221,089	H1276Q	probably benign	Het
Slc24a4	T	A	12: 102,131,617	D79E	probably benign	Het
Slc7a13	A	T	4: 19,839,254	I286F	probably benign	Het
Smarca1	G	A	X: 47,849,963	Q723*	probably null	Het
Spata31d1b	T	C	13: 59,718,068	L1010P	probably damaging	Het
Sult2a1	T	C	7: 13,835,975	S111G	possibly damaging	Het
Tecpr2	C	T	12: 110,947,912	T1219M	probably damaging	Het
Tesk1	T	C	4: 43,446,998	M462T	probably benign	Het
Tmem171	C	A	13: 98,686,416	G292*	probably null	Het
Tmtc2	G	T	10: 105,190,108	T833N	probably benign	Het
Tnc	G	T	4: 64,000,062	T1204K	probably benign	Het
Tnfaip3	T	C	10: 19,008,189	K148E	probably benign	Het
Tnrc18	G	A	5: 142,815,140	S21F	probably damaging	Het
Tns4	T	C	11: 99,075,575	T425A	probably damaging	Het
Tox	T	A	4: 6,688,948	Y472F	probably damaging	Het
Trak2	A	T	1: 58,918,855		probably null	Het
Trim33	T	A	3: 103,337,444	Y716N	probably damaging	Het
Trrap	T	G	5: 144,816,053	I1813R	probably damaging	Het
Ttc29	A	G	8: 78,251,732	E137G	probably benign	Het
Ube2j2	A	G	4: 155,949,026	K19R	probably benign	Het
Ubxn2b	T	C	4: 6,208,889	I206T	possibly damaging	Het
Usp40	A	G	1: 87,982,056	F559L	probably benign	Het
Utp4	T	A	8: 106,912,350		probably null	Het
Vac14	A	G	8: 110,682,534	N524S	probably benign	Het
Vps13c	T	C	9: 67,894,052	S605P	probably damaging	Het
Vwa5b2	G	T	16: 20,604,832	S1165I	possibly damaging	Het
Zdhhc19	C	T	16: 32,498,413	R28*	probably null	Het
Zfp106	T	C	2: 120,526,848	I1189V	probably benign	Het
Zfp189	C	T	4: 49,529,511	Q205*	probably null	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
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
R3106:Adam22	UTSW	5	8117583	splice site	probably null
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
X0067:Adam22	UTSW	5	8127329	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- GCCGCACTTCAGAAGACTTC -3'
(R):5'- TCTCGAGATAGTATGGAGCATTAC -3'

Sequencing Primer
(F):5'- CTTCAGAAGACTTCAGGAGGCTC -3'
(R):5'- GAAATTTTACAGGATTTGTGGATGC -3'

Posted On

2014-06-30