Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03326:Adam22'

416635

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 #

IGL03326

Quality Score

Status

Chromosome

Chromosomal Location

8122352-8418160 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 8177421 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 563 (S563P)

Ref Sequence

ENSEMBL: ENSMUSP00000111046 (fasta)

Gene Model

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

AlphaFold

Q9R1V6

Predicted Effect

probably damaging
Transcript: ENSMUST00000046838
AA Change: S563P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000049120
Gene: ENSMUSG00000040537
AA Change: S563P

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: S563P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000055000
Gene: ENSMUSG00000040537
AA Change: S563P

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: S563P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000086122
Gene: ENSMUSG00000040537
AA Change: S563P

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: S563P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000086139
Gene: ENSMUSG00000040537
AA Change: S563P

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: S563P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000111044
Gene: ENSMUSG00000040537
AA Change: S563P

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: S563P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000111046
Gene: ENSMUSG00000040537
AA Change: S563P

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl1	A	T	4: 86,170,985 (GRCm39)		probably benign	Het
Ampd2	T	A	3: 107,986,603 (GRCm39)	Y227F	probably benign	Het
Cyp2c67	A	T	19: 39,631,713 (GRCm39)		probably null	Het
Gk5	G	A	9: 96,019,892 (GRCm39)		probably null	Het
Gm20422	T	C	8: 70,219,348 (GRCm39)	T59A	possibly damaging	Het
Gria1	A	T	11: 57,208,599 (GRCm39)	K831N	probably damaging	Het
Hspa5	C	A	2: 34,666,129 (GRCm39)		probably benign	Het
Igtp	A	G	11: 58,097,054 (GRCm39)	D75G	probably benign	Het
Jmjd8	T	C	17: 26,048,139 (GRCm39)		probably null	Het
Kcnh2	A	T	5: 24,531,411 (GRCm39)	F158Y	probably damaging	Het
Kmt2a	A	T	9: 44,730,044 (GRCm39)	C456*	probably null	Het
Krtap5-2	A	T	7: 141,729,100 (GRCm39)	C193*	probably null	Het
Mrpl2	T	C	17: 46,960,853 (GRCm39)	V249A	possibly damaging	Het
Obscn	A	T	11: 58,923,728 (GRCm39)	I6433N	probably damaging	Het
Or52a20	T	A	7: 103,366,069 (GRCm39)	F89L	probably benign	Het
Or5p63	T	C	7: 107,810,837 (GRCm39)	I300V	probably benign	Het
Or5w14	A	C	2: 87,542,039 (GRCm39)	D70E	probably damaging	Het
Plb1	C	T	5: 32,488,671 (GRCm39)	T985I	probably benign	Het
Polr3b	T	C	10: 84,503,259 (GRCm39)	I392T	probably benign	Het
Ppp1r1c	A	T	2: 79,638,727 (GRCm39)	N107I	probably benign	Het
Ppp1r3a	C	T	6: 14,719,765 (GRCm39)	R383Q	probably damaging	Het
Ptpre	T	C	7: 135,274,546 (GRCm39)	I499T	probably damaging	Het
Rapgef2	A	G	3: 78,999,140 (GRCm39)	I544T	probably damaging	Het
Rbm20	A	T	19: 53,802,431 (GRCm39)	Q313L	possibly damaging	Het
Rnf38	A	T	4: 44,149,182 (GRCm39)	I55N	probably benign	Het
Rtel1	T	C	2: 180,997,354 (GRCm39)		probably benign	Het
Scube1	T	C	15: 83,491,617 (GRCm39)	Y959C	probably damaging	Het
Selenow	A	G	7: 15,654,051 (GRCm39)		probably benign	Het
Tbx5	T	C	5: 120,009,363 (GRCm39)	Y291H	probably damaging	Het
Tln2	A	T	9: 67,241,539 (GRCm39)	M1022K	possibly damaging	Het
Tmtc4	G	A	14: 123,182,952 (GRCm39)	R249W	probably damaging	Het
Trim34a	A	G	7: 103,910,587 (GRCm39)	Q463R	probably benign	Het
Vps35	C	A	8: 86,001,526 (GRCm39)	E431*	probably null	Het
Wdpcp	T	C	11: 21,835,048 (GRCm39)	C684R	probably benign	Het
Xirp2	G	A	2: 67,312,590 (GRCm39)	V20I	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
IGL03329:Adam22	APN	5	8,199,210 (GRCm39)	missense	possibly damaging	0.48
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