Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03329:Adam22'

416805

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adam22

Ensembl Gene

ENSMUSG00000040537

Gene Name

a disintegrin and metallopeptidase domain 22

Synonyms

MDC2, 2900022I03Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03329

Quality Score

Status

Chromosome

Chromosomal Location

8122352-8418160 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 8199210 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 249 (M249L)

Ref Sequence

ENSEMBL: ENSMUSP00000111046 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046838] [ENSMUST00000050166] [ENSMUST00000088744] [ENSMUST00000088761] [ENSMUST00000115385] [ENSMUST00000115386] [ENSMUST00000115388]

AlphaFold

Q9R1V6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000046838
AA Change: M249L

PolyPhen 2 Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000049120
Gene: ENSMUSG00000040537
AA Change: M249L

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

possibly damaging
Transcript: ENSMUST00000050166
AA Change: M249L

PolyPhen 2 Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000055000
Gene: ENSMUSG00000040537
AA Change: M249L

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

possibly damaging
Transcript: ENSMUST00000088744
AA Change: M249L

PolyPhen 2 Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000086122
Gene: ENSMUSG00000040537
AA Change: M249L

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

possibly damaging
Transcript: ENSMUST00000088761
AA Change: M249L

PolyPhen 2 Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000086139
Gene: ENSMUSG00000040537
AA Change: M249L

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 benign
Transcript: ENSMUST00000115385
AA Change: M249L

PolyPhen 2 Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000111043
Gene: ENSMUSG00000040537
AA Change: M249L

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:Pep_M12B_propep	40	186	5.2e-28	PFAM
low complexity region	214	230	N/A	INTRINSIC
Pfam:Reprolysin	237	333	2e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115386
AA Change: M249L

PolyPhen 2 Score 0.363 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000111044
Gene: ENSMUSG00000040537
AA Change: M249L

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

possibly damaging
Transcript: ENSMUST00000115388
AA Change: M249L

PolyPhen 2 Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000111046
Gene: ENSMUSG00000040537
AA Change: M249L

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

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,248,047 (GRCm39)	D2598G	probably benign	Het
Abcf2	T	G	5: 24,776,246 (GRCm39)		probably null	Het
Acsl1	T	A	8: 46,946,031 (GRCm39)	C55S	possibly damaging	Het
Alk	A	G	17: 72,206,159 (GRCm39)		probably benign	Het
Ambn	T	G	5: 88,609,527 (GRCm39)	S78R	probably benign	Het
Apbb1ip	T	A	2: 22,757,729 (GRCm39)	V449D	possibly damaging	Het
Atp13a5	A	T	16: 29,152,883 (GRCm39)	Y194*	probably null	Het
Cacul1	A	T	19: 60,531,489 (GRCm39)	F260Y	probably damaging	Het
Cfap46	A	G	7: 139,181,081 (GRCm39)	I2640T	probably damaging	Het
Chd7	T	C	4: 8,841,108 (GRCm39)	S1446P	probably damaging	Het
Cimap2	G	T	4: 106,464,601 (GRCm39)	R353S	possibly damaging	Het
Clcn2	G	A	16: 20,530,902 (GRCm39)	T276I	probably damaging	Het
Dcbld1	T	G	10: 52,195,721 (GRCm39)	Y310D	probably damaging	Het
Dennd4c	G	A	4: 86,696,113 (GRCm39)	V157I	probably damaging	Het
Dennd5b	G	T	6: 148,899,758 (GRCm39)	T1213K	possibly damaging	Het
Dusp8	A	T	7: 141,638,097 (GRCm39)	L177*	probably null	Het
Erbb4	T	C	1: 68,367,281 (GRCm39)	S479G	probably benign	Het
Gpbp1	T	A	13: 111,589,787 (GRCm39)		probably benign	Het
Hmcn1	T	A	1: 150,608,661 (GRCm39)	Q1507L	probably damaging	Het
Inppl1	G	T	7: 101,473,587 (GRCm39)	T1021K	possibly damaging	Het
Klk1b9	A	G	7: 43,628,838 (GRCm39)	E114G	probably benign	Het
Klre1	T	C	6: 129,562,660 (GRCm39)		probably benign	Het
Lancl1	T	C	1: 67,060,209 (GRCm39)	Y72C	probably damaging	Het
Lilra6	A	G	7: 3,917,647 (GRCm39)		probably benign	Het
Magi2	T	C	5: 20,671,126 (GRCm39)	V490A	possibly damaging	Het
Myo3b	T	A	2: 70,084,803 (GRCm39)	N720K	probably damaging	Het
Or2ah1	A	C	2: 85,653,729 (GRCm39)	D138A	probably benign	Het
Or7e166	T	C	9: 19,624,597 (GRCm39)	V158A	probably benign	Het
Ppp2r3d	T	A	9: 101,003,630 (GRCm39)		probably benign	Het
Rbm47	T	C	5: 66,184,036 (GRCm39)	D189G	probably damaging	Het
Scn2a	G	A	2: 65,594,973 (GRCm39)	D1941N	probably benign	Het
Sgpp2	T	C	1: 78,367,200 (GRCm39)	I111T	probably benign	Het
Sh3bp2	T	C	5: 34,716,546 (GRCm39)	V319A	probably benign	Het
Slc12a3	A	C	8: 95,092,519 (GRCm39)	Q980P	possibly damaging	Het
Slc39a8	G	T	3: 135,590,474 (GRCm39)	G389V	probably damaging	Het
Slc5a3	T	C	16: 91,874,348 (GRCm39)	I135T	probably damaging	Het
Smu1	A	G	4: 40,739,568 (GRCm39)	V414A	possibly damaging	Het
Tlr12	A	G	4: 128,510,645 (GRCm39)	F535S	possibly damaging	Het
Trim47	A	G	11: 115,997,254 (GRCm39)	V501A	probably damaging	Het
Vmn1r16	A	T	6: 57,300,603 (GRCm39)	N6K	probably damaging	Het
Vwce	G	A	19: 10,637,360 (GRCm39)	C711Y	possibly damaging	Het
Wdr25	C	T	12: 108,864,262 (GRCm39)	L136F	probably benign	Het
Xpo1	A	G	11: 23,234,306 (GRCm39)	Q437R	probably benign	Het
Zfp169	C	A	13: 48,644,270 (GRCm39)		probably benign	Het
Zfp607b	A	T	7: 27,403,295 (GRCm39)	I584F	probably damaging	Het
Zzef1	T	A	11: 72,808,099 (GRCm39)		probably benign	Het

Other mutations in Adam22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01325:Adam22	APN	5	8,177,333 (GRCm39)	missense	probably benign	0.44
IGL01368:Adam22	APN	5	8,177,411 (GRCm39)	missense	probably damaging	1.00
IGL01406:Adam22	APN	5	8,180,212 (GRCm39)	nonsense	probably null
IGL01463:Adam22	APN	5	8,142,790 (GRCm39)	missense	probably damaging	1.00
IGL01691:Adam22	APN	5	8,142,742 (GRCm39)	missense	probably damaging	1.00
IGL01798:Adam22	APN	5	8,282,604 (GRCm39)	splice site	probably null
IGL01975:Adam22	APN	5	8,217,396 (GRCm39)	missense	probably damaging	1.00
IGL02076:Adam22	APN	5	8,186,900 (GRCm39)	missense	probably damaging	1.00
IGL02170:Adam22	APN	5	8,184,845 (GRCm39)	missense	probably benign
IGL02189:Adam22	APN	5	8,380,029 (GRCm39)	missense	possibly damaging	0.91
IGL02859:Adam22	APN	5	8,217,375 (GRCm39)	missense	probably damaging	1.00
IGL03189:Adam22	APN	5	8,161,897 (GRCm39)	nonsense	probably null
IGL03326:Adam22	APN	5	8,177,421 (GRCm39)	missense	probably damaging	1.00
IGL03354:Adam22	APN	5	8,208,890 (GRCm39)	missense	possibly damaging	0.82
IGL03394:Adam22	APN	5	8,217,379 (GRCm39)	missense	probably benign	0.00
IGL03047:Adam22	UTSW	5	8,132,220 (GRCm39)	missense	probably damaging	1.00
R0445:Adam22	UTSW	5	8,230,591 (GRCm39)	intron	probably benign
R0486:Adam22	UTSW	5	8,380,048 (GRCm39)	missense	probably damaging	1.00
R0669:Adam22	UTSW	5	8,193,036 (GRCm39)	splice site	probably benign
R0866:Adam22	UTSW	5	8,132,156 (GRCm39)	missense	probably damaging	0.98
R1510:Adam22	UTSW	5	8,202,408 (GRCm39)	missense	probably benign	0.06
R1562:Adam22	UTSW	5	8,145,007 (GRCm39)	missense	probably damaging	1.00
R1640:Adam22	UTSW	5	8,195,689 (GRCm39)	missense	probably damaging	1.00
R1903:Adam22	UTSW	5	8,184,525 (GRCm39)	missense	probably damaging	1.00
R1939:Adam22	UTSW	5	8,380,015 (GRCm39)	missense	probably damaging	1.00
R1998:Adam22	UTSW	5	8,379,995 (GRCm39)	missense	probably damaging	1.00
R2012:Adam22	UTSW	5	8,167,634 (GRCm39)	missense	probably damaging	1.00
R2214:Adam22	UTSW	5	8,186,805 (GRCm39)	critical splice donor site	probably null
R2270:Adam22	UTSW	5	8,171,108 (GRCm39)	missense	probably damaging	0.98
R2271:Adam22	UTSW	5	8,171,108 (GRCm39)	missense	probably damaging	0.98
R2286:Adam22	UTSW	5	8,195,616 (GRCm39)	missense	probably damaging	1.00
R2304:Adam22	UTSW	5	8,142,366 (GRCm39)	missense	probably damaging	1.00
R2406:Adam22	UTSW	5	8,230,064 (GRCm39)	intron	probably benign
R2656:Adam22	UTSW	5	8,167,696 (GRCm39)	missense	probably damaging	1.00
R3106:Adam22	UTSW	5	8,167,583 (GRCm39)	splice site	probably null
R3870:Adam22	UTSW	5	8,182,418 (GRCm39)	missense	probably damaging	1.00
R3923:Adam22	UTSW	5	8,180,514 (GRCm39)	missense	possibly damaging	0.68
R4092:Adam22	UTSW	5	8,145,004 (GRCm39)	missense	probably damaging	1.00
R4180:Adam22	UTSW	5	8,199,218 (GRCm39)	missense	probably damaging	1.00
R4247:Adam22	UTSW	5	8,195,626 (GRCm39)	missense	probably benign
R4486:Adam22	UTSW	5	8,230,227 (GRCm39)	intron	probably benign
R4629:Adam22	UTSW	5	8,282,663 (GRCm39)	missense	possibly damaging	0.95
R4744:Adam22	UTSW	5	8,128,699 (GRCm39)	missense	probably damaging	0.98
R4839:Adam22	UTSW	5	8,186,813 (GRCm39)	missense	probably damaging	1.00
R5007:Adam22	UTSW	5	8,217,393 (GRCm39)	missense	probably damaging	1.00
R5030:Adam22	UTSW	5	8,229,645 (GRCm39)	intron	probably benign
R5061:Adam22	UTSW	5	8,230,238 (GRCm39)	intron	probably benign
R5312:Adam22	UTSW	5	8,140,182 (GRCm39)	missense	probably damaging	1.00
R5353:Adam22	UTSW	5	8,140,182 (GRCm39)	missense	probably damaging	1.00
R5354:Adam22	UTSW	5	8,140,182 (GRCm39)	missense	probably damaging	1.00
R5356:Adam22	UTSW	5	8,140,182 (GRCm39)	missense	probably damaging	1.00
R5423:Adam22	UTSW	5	8,140,182 (GRCm39)	missense	probably damaging	1.00
R5424:Adam22	UTSW	5	8,140,182 (GRCm39)	missense	probably damaging	1.00
R5719:Adam22	UTSW	5	8,417,217 (GRCm39)	missense	probably benign
R5763:Adam22	UTSW	5	8,184,544 (GRCm39)	missense	probably damaging	1.00
R5768:Adam22	UTSW	5	8,177,426 (GRCm39)	missense	probably benign	0.35
R5776:Adam22	UTSW	5	8,177,361 (GRCm39)	missense	probably benign	0.26
R5839:Adam22	UTSW	5	8,186,861 (GRCm39)	missense	probably damaging	0.99
R6314:Adam22	UTSW	5	8,177,365 (GRCm39)	nonsense	probably null
R6520:Adam22	UTSW	5	8,166,635 (GRCm39)	missense	probably damaging	0.98
R6798:Adam22	UTSW	5	8,210,784 (GRCm39)	missense	probably damaging	1.00
R6924:Adam22	UTSW	5	8,417,322 (GRCm39)	missense	possibly damaging	0.78
R6938:Adam22	UTSW	5	8,196,499 (GRCm39)	missense	probably benign	0.01
R7317:Adam22	UTSW	5	8,140,202 (GRCm39)	missense	probably benign
R7402:Adam22	UTSW	5	8,145,049 (GRCm39)	missense	possibly damaging	0.95
R7431:Adam22	UTSW	5	8,142,818 (GRCm39)	missense	probably damaging	1.00
R7527:Adam22	UTSW	5	8,132,239 (GRCm39)	missense	possibly damaging	0.66
R7571:Adam22	UTSW	5	8,132,160 (GRCm39)	nonsense	probably null
R7627:Adam22	UTSW	5	8,417,933 (GRCm39)	missense	probably benign
R7678:Adam22	UTSW	5	8,137,750 (GRCm39)	splice site	probably null
R7714:Adam22	UTSW	5	8,167,587 (GRCm39)	critical splice donor site	probably null
R7806:Adam22	UTSW	5	8,142,825 (GRCm39)	missense	probably damaging	1.00
R7834:Adam22	UTSW	5	8,180,535 (GRCm39)	missense	probably damaging	1.00
R7837:Adam22	UTSW	5	8,199,284 (GRCm39)	critical splice acceptor site	probably null
R7979:Adam22	UTSW	5	8,186,804 (GRCm39)	critical splice donor site	probably null
R8123:Adam22	UTSW	5	8,142,833 (GRCm39)	critical splice acceptor site	probably null
R8511:Adam22	UTSW	5	8,184,558 (GRCm39)	missense	probably damaging	0.98
R8722:Adam22	UTSW	5	8,166,554 (GRCm39)	missense	probably benign
R8730:Adam22	UTSW	5	8,208,830 (GRCm39)	missense	probably benign	0.00
R8956:Adam22	UTSW	5	8,142,343 (GRCm39)	missense	probably damaging	1.00
R9015:Adam22	UTSW	5	8,136,688 (GRCm39)	intron	probably benign
R9068:Adam22	UTSW	5	8,177,343 (GRCm39)	missense	probably benign	0.01
R9198:Adam22	UTSW	5	8,167,583 (GRCm39)	splice site	probably null
R9441:Adam22	UTSW	5	8,161,974 (GRCm39)	missense	possibly damaging	0.70
R9480:Adam22	UTSW	5	8,193,077 (GRCm39)	missense	probably benign	0.01
X0067:Adam22	UTSW	5	8,177,329 (GRCm39)	missense	probably benign	0.05

Posted On

2016-08-02