Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02859:Adam22'

362091

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 #

IGL02859

Quality Score

Status

Chromosome

Chromosomal Location

8122352-8418160 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 8217375 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 140 (R140L)

Ref Sequence

ENSEMBL: ENSMUSP00000111046 (fasta)

Gene Model

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

AlphaFold

Q9R1V6

Predicted Effect

probably damaging
Transcript: ENSMUST00000046838
AA Change: R140L

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

SMART Domains

Protein: ENSMUSP00000049120
Gene: ENSMUSG00000040537
AA Change: R140L

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: R140L

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

SMART Domains

Protein: ENSMUSP00000055000
Gene: ENSMUSG00000040537
AA Change: R140L

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: R140L

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

SMART Domains

Protein: ENSMUSP00000086122
Gene: ENSMUSG00000040537
AA Change: R140L

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: R140L

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

SMART Domains

Protein: ENSMUSP00000086139
Gene: ENSMUSG00000040537
AA Change: R140L

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: ENSMUST00000115385
AA Change: R140L

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

SMART Domains

Protein: ENSMUSP00000111043
Gene: ENSMUSG00000040537
AA Change: R140L

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 damaging
Transcript: ENSMUST00000115386
AA Change: R140L

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

SMART Domains

Protein: ENSMUSP00000111044
Gene: ENSMUSG00000040537
AA Change: R140L

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: R140L

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

SMART Domains

Protein: ENSMUSP00000111046
Gene: ENSMUSG00000040537
AA Change: R140L

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	T	13: 77,415,818 (GRCm39)	Y637F	possibly damaging	Het
Abcc4	A	G	14: 118,753,912 (GRCm39)	I1025T	probably damaging	Het
Ahdc1	C	A	4: 132,790,003 (GRCm39)	L415I	possibly damaging	Het
Ahdc1	T	A	4: 132,790,004 (GRCm39)	L415H	probably damaging	Het
Bivm	C	A	1: 44,176,159 (GRCm39)	S305*	probably null	Het
Clca4b	C	T	3: 144,617,800 (GRCm39)	D768N	probably benign	Het
Cobl	T	A	11: 12,319,602 (GRCm39)	N31Y	probably damaging	Het
Col4a5	G	A	X: 140,392,846 (GRCm39)	C484Y	unknown	Het
Ctnnd1	T	C	2: 84,450,253 (GRCm39)		probably benign	Het
Dnah5	A	G	15: 28,383,771 (GRCm39)	T2998A	probably benign	Het
Dnah9	T	A	11: 65,772,445 (GRCm39)		probably benign	Het
F2	T	C	2: 91,456,087 (GRCm39)	D558G	probably damaging	Het
Gle1	T	A	2: 29,839,240 (GRCm39)	W511R	probably damaging	Het
Gm11564	C	T	11: 99,705,953 (GRCm39)	S159N	unknown	Het
Htr6	A	G	4: 138,801,745 (GRCm39)	C110R	probably damaging	Het
Ikbke	T	A	1: 131,197,934 (GRCm39)	S391C	probably damaging	Het
Itgae	T	C	11: 73,005,693 (GRCm39)	F286L	probably damaging	Het
Kcnb2	A	T	1: 15,780,730 (GRCm39)	H534L	probably damaging	Het
Map1b	T	C	13: 99,569,544 (GRCm39)	Y1059C	unknown	Het
Mul1	A	G	4: 138,165,660 (GRCm39)	T106A	probably damaging	Het
Nf2	T	A	11: 4,741,209 (GRCm39)	E249V	probably damaging	Het
Nlrp1a	T	C	11: 70,996,912 (GRCm39)	S965G	possibly damaging	Het
Nrn1	C	A	13: 36,914,080 (GRCm39)		probably null	Het
Optc	T	C	1: 133,829,799 (GRCm39)	T204A	probably damaging	Het
Or51f1d	T	C	7: 102,701,345 (GRCm39)	V280A	probably benign	Het
Or8k37	T	C	2: 86,469,992 (GRCm39)	N20S	probably benign	Het
Pcnx2	C	T	8: 126,589,912 (GRCm39)	R787Q	probably damaging	Het
Pim1	G	A	17: 29,710,909 (GRCm39)	E171K	probably damaging	Het
Pnpt1	T	C	11: 29,088,162 (GRCm39)	V191A	probably damaging	Het
Rbbp8	G	A	18: 11,871,671 (GRCm39)	R796Q	probably benign	Het
Serpinb9e	A	G	13: 33,435,633 (GRCm39)	D22G	possibly damaging	Het
Sit1	C	T	4: 43,482,831 (GRCm39)	M109I	probably benign	Het
Slc17a8	A	G	10: 89,412,446 (GRCm39)	V329A	probably benign	Het
Smg1	T	A	7: 117,748,156 (GRCm39)		probably benign	Het
Snx7	T	A	3: 117,623,320 (GRCm39)		probably benign	Het
Stat2	A	T	10: 128,112,480 (GRCm39)	E40V	probably damaging	Het
Vegfa	C	T	17: 46,335,421 (GRCm39)	S291N	probably benign	Het
Vmn1r61	G	T	7: 5,614,288 (GRCm39)	L9I	probably benign	Het
Wbp4	T	C	14: 79,708,129 (GRCm39)	K163E	probably damaging	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
IGL03189:Adam22	APN	5	8,161,897 (GRCm39)	nonsense	probably null
IGL03326:Adam22	APN	5	8,177,421 (GRCm39)	missense	probably damaging	1.00
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

2015-12-18