Mutagenetix > Incidental Mutation

Incidental Mutation 'R1974:Adam9'

221415

Institutional Source

Beutler Lab

Gene Symbol

Adam9

Ensembl Gene

ENSMUSG00000031555

Gene Name

ADAM metallopeptidase domain 9

Synonyms

MDC9, Mltng, Mltng, MDC9

MMRRC Submission

039987-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1974 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

25439627-25506943 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25482240 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 255 (I255T)

Ref Sequence

ENSEMBL: ENSMUSP00000146545 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084032] [ENSMUST00000084035] [ENSMUST00000207132] [ENSMUST00000208247]

AlphaFold

Q61072

Predicted Effect

probably damaging
Transcript: ENSMUST00000084032
AA Change: I255T

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

SMART Domains

Protein: ENSMUSP00000081045
Gene: ENSMUSG00000031555
AA Change: I255T

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
Pfam:Pep_M12B_propep	43	163	8.5e-36	PFAM
Pfam:Reprolysin_5	210	386	5.5e-20	PFAM
Pfam:Reprolysin_4	210	402	1.4e-11	PFAM
Pfam:Reprolysin	212	406	1e-67	PFAM
Pfam:Reprolysin_2	232	396	1.1e-12	PFAM
Pfam:Reprolysin_3	236	358	8.1e-19	PFAM
DISIN	423	499	8.7e-44	SMART
ACR	500	637	9.7e-75	SMART
EGF	643	674	9.9e-2	SMART
transmembrane domain	699	718	N/A	INTRINSIC
low complexity region	753	787	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000084035
AA Change: I255T

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

SMART Domains

Protein: ENSMUSP00000081048
Gene: ENSMUSG00000031555
AA Change: I255T

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
Pfam:Pep_M12B_propep	34	163	8.1e-31	PFAM
Pfam:Reprolysin_5	210	386	5.8e-22	PFAM
Pfam:Reprolysin_4	210	402	1.6e-13	PFAM
Pfam:Reprolysin	212	406	1.9e-73	PFAM
Pfam:Reprolysin_2	232	396	9.4e-15	PFAM
Pfam:Reprolysin_3	236	358	3.4e-19	PFAM
DISIN	423	499	1.71e-41	SMART
ACR	500	637	2.86e-72	SMART
EGF	643	674	2.03e1	SMART
transmembrane domain	699	718	N/A	INTRINSIC
low complexity region	753	794	N/A	INTRINSIC
low complexity region	808	826	N/A	INTRINSIC
low complexity region	831	839	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000207132

Predicted Effect

probably damaging
Transcript: ENSMUST00000208247
AA Change: I255T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000211319

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene interacts with SH3 domain-containing proteins, binds mitotic arrest deficient 2 beta protein, and is also involved in TPA-induced ectodomain shedding of membrane-anchored heparin-binding EGF-like growth factor. Several alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jul 2010]
PHENOTYPE: Homozygous knockout mice exhibit progressive retinal degeneration, disorganized retinal layers and a degenerate retinal pigment epithelium. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	A	3: 137,773,028 (GRCm39)	L739Q	probably damaging	Het
4933436I01Rik	A	T	X: 66,963,655 (GRCm39)	Y401*	probably null	Het
Abcg3	A	G	5: 105,111,504 (GRCm39)	V321A	probably benign	Het
Acad10	C	A	5: 121,764,248 (GRCm39)	V894L	possibly damaging	Het
Ago3	T	C	4: 126,240,544 (GRCm39)	Y785C	probably damaging	Het
Aif1	G	A	17: 35,391,127 (GRCm39)	P44L	probably benign	Het
Akap4	A	G	X: 6,943,595 (GRCm39)	S633G	probably benign	Het
Alox15	T	A	11: 70,240,799 (GRCm39)	T194S	probably benign	Het
Amh	T	C	10: 80,642,250 (GRCm39)	S207P	probably benign	Het
Apc	T	A	18: 34,433,057 (GRCm39)	C415S	possibly damaging	Het
Atg14	G	A	14: 47,783,298 (GRCm39)	R346C	probably damaging	Het
Atp5mf	A	T	5: 145,121,389 (GRCm39)	L64Q	probably damaging	Het
Barhl2	C	G	5: 106,605,179 (GRCm39)	E177Q	probably benign	Het
C1qtnf5	T	C	9: 44,020,072 (GRCm39)	V232A	probably damaging	Het
Calr	T	C	8: 85,570,786 (GRCm39)	I290V	probably benign	Het
Cdh19	G	C	1: 110,817,889 (GRCm39)	Q618E	possibly damaging	Het
Celsr2	G	T	3: 108,321,530 (GRCm39)	D427E	probably damaging	Het
Cep250	T	C	2: 155,831,424 (GRCm39)	S1294P	probably damaging	Het
Chrna7	T	A	7: 62,749,034 (GRCm39)	T483S	probably damaging	Het
Clmn	A	T	12: 104,758,121 (GRCm39)	W132R	probably damaging	Het
Cpsf2	G	A	12: 101,956,306 (GRCm39)	D370N	probably benign	Het
Crnn	T	C	3: 93,056,594 (GRCm39)	V460A	probably benign	Het
Daam1	T	A	12: 72,035,703 (GRCm39)	I957N	probably damaging	Het
Defb9	T	C	8: 22,371,905 (GRCm39)	K36R	probably benign	Het
Dock10	T	A	1: 80,488,143 (GRCm39)	I2007F	possibly damaging	Het
Dpm1	A	T	2: 168,059,667 (GRCm39)	V143D	probably damaging	Het
Dync1h1	T	C	12: 110,592,166 (GRCm39)	V1110A	possibly damaging	Het
Erlec1	T	G	11: 30,889,604 (GRCm39)	K373N	possibly damaging	Het
Fbxo40	C	T	16: 36,790,303 (GRCm39)	G269E	probably benign	Het
Fbxw7	T	A	3: 84,862,242 (GRCm39)	C70S	possibly damaging	Het
Fhip2a	T	C	19: 57,373,809 (GRCm39)	F690L	probably damaging	Het
Fnbp1	G	T	2: 30,943,059 (GRCm39)	R280S	probably null	Het
Gapvd1	G	A	2: 34,590,853 (GRCm39)	R940C	probably damaging	Het
Gfod2	T	C	8: 106,444,142 (GRCm39)	K134E	possibly damaging	Het
Gpi1	A	T	7: 33,920,228 (GRCm39)		probably null	Het
Grik2	A	T	10: 49,008,923 (GRCm39)	N721K	possibly damaging	Het
Gsn	G	T	2: 35,191,483 (GRCm39)	G455V	probably damaging	Het
Hlx	G	T	1: 184,464,184 (GRCm39)	A52D	probably damaging	Het
Hpse	A	G	5: 100,840,104 (GRCm39)	S338P	probably damaging	Het
Hyal2	T	C	9: 107,449,371 (GRCm39)	C376R	probably damaging	Het
Inf2	A	G	12: 112,574,771 (GRCm39)	T781A	unknown	Het
Iscu	A	G	5: 113,915,079 (GRCm39)		probably benign	Het
Kcna4	G	A	2: 107,126,565 (GRCm39)	G433D	possibly damaging	Het
Kir3dl2	T	A	X: 135,357,024 (GRCm39)	N146I	probably benign	Het
Klrg1	T	A	6: 122,259,721 (GRCm39)	Q17L	possibly damaging	Het
Krt82	T	G	15: 101,453,597 (GRCm39)	Q263P	probably benign	Het
Mfrp	T	C	9: 44,017,669 (GRCm39)	C554R	probably damaging	Het
Minar1	T	G	9: 89,483,256 (GRCm39)	T714P	probably damaging	Het
Mst1r	T	C	9: 107,791,962 (GRCm39)	Y833H	probably damaging	Het
Mst1r	T	A	9: 107,793,132 (GRCm39)		probably null	Het
Nfix	G	A	8: 85,453,155 (GRCm39)	R300C	probably damaging	Het
Nipal4	T	C	11: 46,042,210 (GRCm39)	N157S	probably damaging	Het
Notch2	G	A	3: 97,980,071 (GRCm39)	G195D	probably damaging	Het
Nrcam	A	T	12: 44,610,776 (GRCm39)	H492L	probably benign	Het
Or10aa1	A	T	1: 173,870,154 (GRCm39)	I213F	probably damaging	Het
Or4p21	A	T	2: 88,276,853 (GRCm39)	I143N	probably damaging	Het
Papln	G	A	12: 83,828,811 (GRCm39)	R817H	probably damaging	Het
Pcnx2	T	C	8: 126,614,110 (GRCm39)	E447G	probably benign	Het
Pdp2	T	C	8: 105,320,538 (GRCm39)	V129A	probably benign	Het
Plch2	A	G	4: 155,069,410 (GRCm39)	F1072S	possibly damaging	Het
Prag1	T	A	8: 36,570,081 (GRCm39)	D221E	probably damaging	Het
Prkg1	T	C	19: 31,563,095 (GRCm39)	D102G	probably damaging	Het
Psme4	T	A	11: 30,769,011 (GRCm39)	D662E	probably benign	Het
Ptprn	T	C	1: 75,231,464 (GRCm39)		probably null	Het
Ptprz1	A	G	6: 22,986,310 (GRCm39)	D370G	probably damaging	Het
Qser1	A	G	2: 104,590,886 (GRCm39)	S1637P	probably damaging	Het
Sema6a	T	A	18: 47,403,696 (GRCm39)	H642L	probably benign	Het
Slc30a5	A	T	13: 100,950,461 (GRCm39)	F209I	probably benign	Het
Slc4a3	G	T	1: 75,528,835 (GRCm39)	E508*	probably null	Het
Stpg2	C	T	3: 139,014,944 (GRCm39)	R370*	probably null	Het
Tas2r113	T	A	6: 132,870,796 (GRCm39)	F275I	probably benign	Het
Tmem132d	T	G	5: 128,346,263 (GRCm39)	K86N	probably damaging	Het
Tpgs2	A	T	18: 25,273,593 (GRCm39)	F189L	probably damaging	Het
Trmt6	A	G	2: 132,652,968 (GRCm39)	S104P	probably damaging	Het
Trpv3	T	C	11: 73,174,514 (GRCm39)	S294P	probably damaging	Het
Ugt2b36	A	G	5: 87,228,727 (GRCm39)		probably null	Het
Vmn1r170	A	T	7: 23,305,906 (GRCm39)	M103L	probably benign	Het
Vmn2r107	T	A	17: 20,575,879 (GRCm39)		probably null	Het
Vmn2r5	C	T	3: 64,411,642 (GRCm39)	E309K	probably damaging	Het
Vmn2r77	T	C	7: 86,449,964 (GRCm39)	V70A	probably benign	Het

Other mutations in Adam9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01611:Adam9	APN	8	25,457,212 (GRCm39)	missense	probably benign	0.03
IGL01786:Adam9	APN	8	25,486,855 (GRCm39)	missense	probably damaging	1.00
IGL02095:Adam9	APN	8	25,486,745 (GRCm39)	missense	probably benign	0.00
IGL02322:Adam9	APN	8	25,445,990 (GRCm39)	missense	probably damaging	1.00
IGL02555:Adam9	APN	8	25,456,752 (GRCm39)	missense	probably damaging	1.00
IGL02869:Adam9	APN	8	25,460,634 (GRCm39)	missense	probably damaging	1.00
R0126:Adam9	UTSW	8	25,460,753 (GRCm39)	missense	probably damaging	1.00
R0448:Adam9	UTSW	8	25,454,926 (GRCm39)	missense	probably damaging	1.00
R0552:Adam9	UTSW	8	25,453,026 (GRCm39)	missense	probably benign	0.00
R0730:Adam9	UTSW	8	25,486,774 (GRCm39)	missense	probably benign	0.02
R1455:Adam9	UTSW	8	25,483,125 (GRCm39)	missense	probably benign	0.00
R2043:Adam9	UTSW	8	25,486,669 (GRCm39)	critical splice donor site	probably null
R2054:Adam9	UTSW	8	25,481,310 (GRCm39)	missense	probably damaging	1.00
R2091:Adam9	UTSW	8	25,485,200 (GRCm39)	splice site	probably benign
R2111:Adam9	UTSW	8	25,472,142 (GRCm39)	splice site	probably benign
R4261:Adam9	UTSW	8	25,454,923 (GRCm39)	nonsense	probably null
R4852:Adam9	UTSW	8	25,493,317 (GRCm39)	missense	probably damaging	1.00
R5165:Adam9	UTSW	8	25,457,190 (GRCm39)	missense	possibly damaging	0.88
R6022:Adam9	UTSW	8	25,493,321 (GRCm39)	missense	possibly damaging	0.87
R6101:Adam9	UTSW	8	25,460,775 (GRCm39)	missense	probably damaging	1.00
R6105:Adam9	UTSW	8	25,460,775 (GRCm39)	missense	probably damaging	1.00
R6415:Adam9	UTSW	8	25,468,498 (GRCm39)	missense	probably damaging	1.00
R7241:Adam9	UTSW	8	25,441,002 (GRCm39)	missense	possibly damaging	0.53
R7442:Adam9	UTSW	8	25,457,223 (GRCm39)	missense	probably damaging	0.99
R7552:Adam9	UTSW	8	25,445,988 (GRCm39)	missense	unknown
R8076:Adam9	UTSW	8	25,452,938 (GRCm39)	nonsense	probably null
R8265:Adam9	UTSW	8	25,457,202 (GRCm39)	missense	probably damaging	1.00
R8762:Adam9	UTSW	8	25,457,235 (GRCm39)	missense	probably damaging	0.99
R9157:Adam9	UTSW	8	25,493,331 (GRCm39)	missense	probably damaging	0.98
R9164:Adam9	UTSW	8	25,486,795 (GRCm39)	missense	possibly damaging	0.79
R9424:Adam9	UTSW	8	25,445,953 (GRCm39)	missense	probably benign	0.06
R9576:Adam9	UTSW	8	25,445,953 (GRCm39)	missense	probably benign	0.06
R9674:Adam9	UTSW	8	25,441,014 (GRCm39)	missense	possibly damaging	0.53

Predicted Primers

PCR Primer
(F):5'- GAAGTCATTGTTCTGGTCACTCC -3'
(R):5'- CTCTGTCCTTAATGGGTGAAGG -3'

Sequencing Primer
(F):5'- CATTCATAGCATTTCCTTAAAGCCAC -3'
(R):5'- GGTGACACACATCTGTAATCTCAGG -3'

Posted On

2014-08-25