Mutagenetix > Incidental Mutation

Incidental Mutation 'R0448:Adam9'

39450

Institutional Source

Beutler Lab

Gene Symbol

Adam9

Ensembl Gene

ENSMUSG00000031555

Gene Name

ADAM metallopeptidase domain 9

Synonyms

MDC9, Mltng, Mltng, MDC9

MMRRC Submission

038648-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0448 (G1)

Quality Score

178

Status

Validated

Chromosome

Chromosomal Location

25439627-25506943 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25454926 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 732 (S732P)

Ref Sequence

ENSEMBL: ENSMUSP00000081045 (fasta)

Gene Model

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

AlphaFold

Q61072

Predicted Effect

probably damaging
Transcript: ENSMUST00000084032
AA Change: S732P

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

SMART Domains

Protein: ENSMUSP00000081045
Gene: ENSMUSG00000031555
AA Change: S732P

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: S732P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000081048
Gene: ENSMUSG00000031555
AA Change: S732P

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 damaging
Transcript: ENSMUST00000208247
AA Change: S732P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Meta Mutation Damage Score

0.0678

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 93.1%

Validation Efficiency

100% (74/74)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	G	A	16: 20,218,687 (GRCm39)	R232C	probably damaging	Het
Add2	G	A	6: 86,069,901 (GRCm39)	V140I	probably benign	Het
Ahi1	G	A	10: 20,847,974 (GRCm39)	G461S	probably damaging	Het
Aoc1l2	A	T	6: 48,909,991 (GRCm39)	S643C	probably damaging	Het
Arhgef7	A	G	8: 11,869,659 (GRCm39)	T432A	possibly damaging	Het
Arsi	T	C	18: 61,050,374 (GRCm39)	I419T	probably damaging	Het
Brca1	G	A	11: 101,399,047 (GRCm39)	P1515L	possibly damaging	Het
Brcc3	T	A	X: 74,493,647 (GRCm39)	L222*	probably null	Het
Brpf3	A	T	17: 29,025,010 (GRCm39)	T28S	probably benign	Het
Cdc20b	T	A	13: 113,215,191 (GRCm39)	V253E	probably damaging	Het
Cnot6l	T	A	5: 96,227,905 (GRCm39)	S443C	probably benign	Het
Copg1	G	A	6: 87,881,908 (GRCm39)	A587T	probably benign	Het
Crebrf	A	G	17: 26,962,076 (GRCm39)	D391G	probably benign	Het
Crocc	A	T	4: 140,769,502 (GRCm39)	D283E	probably damaging	Het
Cryga	T	C	1: 65,142,318 (GRCm39)	N25S	probably benign	Het
Csnk1g1	T	C	9: 65,888,230 (GRCm39)	F90L	possibly damaging	Het
Cyp2j6	A	G	4: 96,433,965 (GRCm39)	V115A	probably benign	Het
Cyp3a11	T	C	5: 145,799,204 (GRCm39)	I328V	probably benign	Het
Dchs1	C	A	7: 105,415,134 (GRCm39)	E683D	probably benign	Het
Dnah9	T	C	11: 65,809,539 (GRCm39)		probably benign	Het
Dqx1	T	C	6: 83,037,326 (GRCm39)	S330P	probably damaging	Het
Epg5	A	G	18: 78,066,580 (GRCm39)	Y2160C	probably damaging	Het
Ercc5	T	C	1: 44,213,100 (GRCm39)	L742P	probably damaging	Het
Fcgbpl1	T	C	7: 27,839,660 (GRCm39)	I491T	probably benign	Het
Flt1	C	T	5: 147,503,204 (GRCm39)		probably benign	Het
Grip2	A	G	6: 91,756,194 (GRCm39)	S498P	probably damaging	Het
H2-T22	A	G	17: 36,353,278 (GRCm39)	L14P	possibly damaging	Het
Hephl1	C	T	9: 14,988,222 (GRCm39)	G629S	probably damaging	Het
Hsdl2	T	A	4: 59,606,523 (GRCm39)	M162K	unknown	Het
Kcnh8	C	A	17: 53,284,648 (GRCm39)		probably null	Het
Krt76	T	C	15: 101,799,082 (GRCm39)	Q201R	probably damaging	Het
Lrpprc	A	T	17: 85,078,322 (GRCm39)	Y319N	probably benign	Het
Lrrk2	T	G	15: 91,593,508 (GRCm39)	I489R	probably damaging	Het
Mboat1	G	T	13: 30,386,393 (GRCm39)	D136Y	probably damaging	Het
Mcmdc2	T	C	1: 10,010,767 (GRCm39)	*682Q	probably null	Het
Msx2	C	A	13: 53,622,431 (GRCm39)	R193L	probably damaging	Het
Nfatc4	T	G	14: 56,069,111 (GRCm39)	D625E	possibly damaging	Het
Nup153	T	C	13: 46,870,657 (GRCm39)	E86G	probably benign	Het
Or2g7	G	T	17: 38,378,563 (GRCm39)	R167L	probably benign	Het
Or4k45	T	A	2: 111,395,559 (GRCm39)	I77F	probably benign	Het
Pard3b	T	C	1: 62,205,628 (GRCm39)	L474P	probably damaging	Het
Pate11	T	A	9: 36,388,412 (GRCm39)	M79K	probably benign	Het
Pggt1b	A	T	18: 46,396,039 (GRCm39)		probably benign	Het
Pik3r2	A	G	8: 71,224,688 (GRCm39)		probably benign	Het
Prr14	A	G	7: 127,073,898 (GRCm39)		probably benign	Het
Rcbtb2	T	C	14: 73,415,869 (GRCm39)		probably benign	Het
Rufy2	G	A	10: 62,840,515 (GRCm39)	D429N	probably benign	Het
S1pr5	T	A	9: 21,155,503 (GRCm39)	T308S	probably damaging	Het
Sephs1	A	G	2: 4,904,371 (GRCm39)	T250A	probably benign	Het
Serpina12	A	G	12: 104,004,354 (GRCm39)	S93P	probably benign	Het
Serpinb1b	T	G	13: 33,273,675 (GRCm39)	H123Q	probably benign	Het
Sftpc	C	T	14: 70,760,120 (GRCm39)	V46I	probably benign	Het
Skint8	T	A	4: 111,794,087 (GRCm39)	V159D	probably damaging	Het
Slc25a11	T	C	11: 70,536,405 (GRCm39)	N134S	probably benign	Het
Slc25a24	T	C	3: 109,064,332 (GRCm39)		probably benign	Het
Sorl1	C	G	9: 41,915,384 (GRCm39)	V1282L	probably damaging	Het
Sptan1	T	A	2: 29,916,822 (GRCm39)	I2170N	probably damaging	Het
Syne4	A	G	7: 30,014,345 (GRCm39)		probably benign	Het
Tcam1	G	A	11: 106,174,904 (GRCm39)	E120K	probably benign	Het
Tg	C	A	15: 66,636,291 (GRCm39)	P626Q	probably damaging	Het
Thoc6	T	A	17: 23,888,550 (GRCm39)	D196V	probably damaging	Het
Tpi1	A	G	6: 124,791,066 (GRCm39)	F57S	probably damaging	Het
Tril	A	G	6: 53,794,793 (GRCm39)	*810Q	probably null	Het
Trrap	T	A	5: 144,776,377 (GRCm39)	V2972D	possibly damaging	Het
Ttn	A	T	2: 76,591,624 (GRCm39)	V12688E	probably damaging	Het
Ttn	T	C	2: 76,551,283 (GRCm39)	M31370V	probably damaging	Het
Txndc11	A	G	16: 10,909,625 (GRCm39)	F307S	probably damaging	Het
Vmn1r40	C	T	6: 89,691,642 (GRCm39)	S153L	probably benign	Het
Vmn2r95	A	G	17: 18,672,005 (GRCm39)	T581A	possibly damaging	Het
Wdtc1	A	G	4: 133,024,811 (GRCm39)	F462S	probably damaging	Het
Zfp101	A	G	17: 33,601,295 (GRCm39)	S154P	possibly damaging	Het
Zmym6	A	G	4: 127,002,487 (GRCm39)	N481D	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
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
R1974:Adam9	UTSW	8	25,482,240 (GRCm39)	missense	probably damaging	1.00
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'- ACAGTATAGGCTGCTCACACCCTTC -3'
(R):5'- TGTAACTGCCCATCACTGTCAATCC -3'

Sequencing Primer
(F):5'- attcacaatcctcctgcctc -3'
(R):5'- ATCCTGTCTTTCCAGCAAAGAG -3'

Posted On

2013-05-23