Mutagenetix > Incidental Mutation

Incidental Mutation 'R4964:Adam5'

383792

Institutional Source

Beutler Lab

Gene Symbol

Adam5

Ensembl Gene

ENSMUSG00000031554

Gene Name

a disintegrin and metallopeptidase domain 5

Synonyms

tMDCII

MMRRC Submission

042561-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

R4964 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

25217109-25314385 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 25276248 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 473 (Y473C)

Ref Sequence

ENSEMBL: ENSMUSP00000147290 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050300] [ENSMUST00000118419] [ENSMUST00000209935]

AlphaFold

Q3TTE0

Predicted Effect

probably damaging
Transcript: ENSMUST00000050300
AA Change: Y473C

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

SMART Domains

Protein: ENSMUSP00000052661
Gene: ENSMUSG00000031554
AA Change: Y473C

Domain	Start	End	E-Value	Type
low complexity region	3	14	N/A	INTRINSIC
Pfam:Pep_M12B_propep	16	142	1.6e-19	PFAM
Pfam:Reprolysin	185	378	7.7e-59	PFAM
DISIN	397	474	9.1e-42	SMART
ACR	475	618	6.9e-58	SMART
transmembrane domain	695	712	N/A	INTRINSIC
low complexity region	718	751	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000118419
AA Change: Y473C

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

SMART Domains

Protein: ENSMUSP00000112422
Gene: ENSMUSG00000031554
AA Change: Y473C

Domain	Start	End	E-Value	Type
low complexity region	3	14	N/A	INTRINSIC
Pfam:Pep_M12B_propep	16	142	4.7e-30	PFAM
Pfam:Reprolysin	185	378	7.9e-56	PFAM
DISIN	397	474	1.78e-39	SMART
ACR	475	618	2.06e-55	SMART
transmembrane domain	695	712	N/A	INTRINSIC
low complexity region	718	750	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130939

Predicted Effect

unknown
Transcript: ENSMUST00000132180
AA Change: Y390C

SMART Domains

Protein: ENSMUSP00000121272
Gene: ENSMUSG00000031554
AA Change: Y390C

Domain	Start	End	E-Value	Type
Pfam:Pep_M12B_propep	1	60	6.7e-14	PFAM
Pfam:Reprolysin	103	296	2.5e-61	PFAM
DISIN	315	392	1.78e-39	SMART
ACR	393	536	2.06e-55	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000209935
AA Change: Y473C

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.0%

Validation Efficiency

98% (100/102)

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. This gene is located in a cluster of related ADAM genes on chromosome 8. Alternative splicing results in multiple transcript variants encoding different isoforms, some of which may undergo similar processing. [provided by RefSeq, May 2016]

Allele List at MGI

Other mutations in this stock

Total: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	C	13: 119,610,757 (GRCm39)		probably benign	Het
9030619P08Rik	T	A	15: 75,303,267 (GRCm39)		noncoding transcript	Het
A430033K04Rik	G	T	5: 138,645,119 (GRCm39)	E335*	probably null	Het
Abcb1b	A	T	5: 8,862,671 (GRCm39)	T118S	probably benign	Het
Abcb1b	T	A	5: 8,911,602 (GRCm39)	I133N	probably damaging	Het
Acox3	A	G	5: 35,747,080 (GRCm39)	N166D	probably damaging	Het
Ankmy2	A	G	12: 36,236,917 (GRCm39)	K242E	possibly damaging	Het
Apc2	A	C	10: 80,149,841 (GRCm39)	I1603L	probably benign	Het
Arhgef25	T	A	10: 127,021,472 (GRCm39)	I249F	probably damaging	Het
Birc2	T	C	9: 7,860,553 (GRCm39)	H255R	probably benign	Het
Cables1	A	T	18: 12,074,334 (GRCm39)	R486W	possibly damaging	Het
Caskin1	A	T	17: 24,726,135 (GRCm39)	D1414V	probably damaging	Het
Ccdc175	A	G	12: 72,227,619 (GRCm39)	S55P	probably damaging	Het
Ccdc57	A	T	11: 120,751,978 (GRCm39)	S868T	probably benign	Het
Ccny	A	T	18: 9,449,516 (GRCm39)		probably null	Het
Cdc34b	A	T	11: 94,633,087 (GRCm39)	I96F	probably damaging	Het
Ctnnd1	A	G	2: 84,452,417 (GRCm39)	F69L	possibly damaging	Het
Cul9	C	T	17: 46,849,451 (GRCm39)	D565N	probably damaging	Het
Cxcl16	A	G	11: 70,346,519 (GRCm39)	V208A	probably benign	Het
Cyb5rl	A	G	4: 106,926,329 (GRCm39)		probably benign	Het
Ddx18	T	C	1: 121,493,823 (GRCm39)	K54E	probably benign	Het
Ddx60	G	A	8: 62,432,372 (GRCm39)	V885I	probably damaging	Het
Dlg1	C	T	16: 31,573,626 (GRCm39)	T9I	probably benign	Het
Dnase1	T	C	16: 3,855,771 (GRCm39)		probably benign	Het
Drd4	T	C	7: 140,873,690 (GRCm39)	M114T	probably damaging	Het
Egfr	A	T	11: 16,858,949 (GRCm39)	D976V	probably damaging	Het
Eif2s1	T	A	12: 78,926,785 (GRCm39)	N178K	probably benign	Het
Exoc3l4	A	G	12: 111,395,155 (GRCm39)	H591R	probably benign	Het
Galntl6	T	C	8: 59,152,945 (GRCm39)		probably benign	Het
Glipr1l2	T	A	10: 111,942,904 (GRCm39)	I253K	possibly damaging	Het
Gnat1	A	T	9: 107,554,433 (GRCm39)	M115K	probably benign	Het
Gtsf2	T	C	15: 103,352,755 (GRCm39)	E88G	possibly damaging	Het
Hormad1	T	A	3: 95,492,531 (GRCm39)		probably null	Het
Hydin	A	T	8: 111,217,305 (GRCm39)	I1398F	possibly damaging	Het
Ifnar1	T	C	16: 91,301,974 (GRCm39)	V483A	probably benign	Het
Ints11	T	C	4: 155,971,385 (GRCm39)	F278L	probably damaging	Het
Ints6	A	G	14: 62,939,911 (GRCm39)	L593P	probably damaging	Het
Krt7	C	T	15: 101,311,853 (GRCm39)	R104C	probably damaging	Het
Map4k1	A	T	7: 28,682,427 (GRCm39)	H16L	probably benign	Het
Mef2d	T	A	3: 88,075,404 (GRCm39)	I422N	probably damaging	Het
Mipep	G	T	14: 61,022,231 (GRCm39)	R32L	probably damaging	Het
Mon1a	A	G	9: 107,779,850 (GRCm39)	E473G	probably damaging	Het
Mterf2	T	A	10: 84,955,979 (GRCm39)	Q215L	probably damaging	Het
Mybpc1	T	A	10: 88,391,525 (GRCm39)	Y324F	probably benign	Het
Myh11	T	C	16: 14,023,818 (GRCm39)	E1512G	probably damaging	Het
Myo1g	A	T	11: 6,465,976 (GRCm39)	F370I	probably damaging	Het
Myo5c	T	A	9: 75,204,791 (GRCm39)	M1548K	possibly damaging	Het
Myof	T	A	19: 37,924,300 (GRCm39)	I1306F	probably damaging	Het
Nle1	A	G	11: 82,799,018 (GRCm39)	F21S	probably damaging	Het
Noc2l	C	G	4: 156,330,368 (GRCm39)	D513E	probably damaging	Het
Or1e17	A	T	11: 73,832,028 (GRCm39)	I319F	probably benign	Het
Or2z2	A	G	11: 58,346,733 (GRCm39)	V14A	probably benign	Het
Orc1	T	C	4: 108,471,670 (GRCm39)	*841R	probably null	Het
Patz1	A	G	11: 3,257,720 (GRCm39)	D573G	probably damaging	Het
Pcdhga3	A	G	18: 37,809,154 (GRCm39)	T536A	probably benign	Het
Pde6h	C	T	6: 136,938,201 (GRCm39)	T58I	possibly damaging	Het
Pip5k1a	T	C	3: 94,978,094 (GRCm39)	I275V	probably benign	Het
Pkd1	T	C	17: 24,805,042 (GRCm39)		probably null	Het
Polr1e	G	A	4: 45,029,429 (GRCm39)	A297T	probably damaging	Het
Polrmt	A	G	10: 79,582,385 (GRCm39)	M1T	probably null	Het
Rbm34	T	C	8: 127,678,087 (GRCm39)	D269G	possibly damaging	Het
Rnf122	T	A	8: 31,602,177 (GRCm39)	M1K	probably null	Het
Rnf32	G	A	5: 29,403,576 (GRCm39)	R7H	probably benign	Het
Ryr2	T	C	13: 11,729,497 (GRCm39)	E2375G	possibly damaging	Het
Ryr2	T	C	13: 11,848,878 (GRCm39)	T361A	probably benign	Het
Serpina3m	T	C	12: 104,355,360 (GRCm39)	I9T	probably benign	Het
Serpinb9	T	A	13: 33,192,847 (GRCm39)	W135R	probably damaging	Het
Sf3b1	T	C	1: 55,038,871 (GRCm39)	N804S	probably benign	Het
Shroom1	A	G	11: 53,355,999 (GRCm39)	T350A	probably benign	Het
Slc24a5	G	A	2: 124,910,188 (GRCm39)	V30I	probably benign	Het
Slc38a8	A	T	8: 120,209,423 (GRCm39)		probably null	Het
Smarcd1	A	G	15: 99,605,862 (GRCm39)	S378G	possibly damaging	Het
Stx1b	T	C	7: 127,407,093 (GRCm39)	I55V	probably damaging	Het
Sult2a8	A	G	7: 14,159,457 (GRCm39)	V54A	probably damaging	Het
Tacc2	T	C	7: 130,330,507 (GRCm39)	S264P	probably damaging	Het
Tbc1d4	A	T	14: 101,695,610 (GRCm39)	Y943N	probably damaging	Het
Tlr5	T	C	1: 182,801,038 (GRCm39)	I114T	probably benign	Het
Tmco6	T	C	18: 36,868,555 (GRCm39)		probably null	Het
Treh	T	C	9: 44,593,945 (GRCm39)	L144P	probably damaging	Het
Trmt2a	T	A	16: 18,067,418 (GRCm39)	C30*	probably null	Het
Ttbk2	A	T	2: 120,603,758 (GRCm39)	F258L	possibly damaging	Het
Ttn	T	C	2: 76,785,380 (GRCm39)	D665G	probably damaging	Het
Unc93b1	T	C	19: 3,992,023 (GRCm39)		probably null	Het
Uroc1	T	C	6: 90,322,376 (GRCm39)	L300P	probably damaging	Het
Vps35l	T	C	7: 118,379,491 (GRCm39)	I426T	possibly damaging	Het
Xbp1	A	G	11: 5,471,125 (GRCm39)	E44G	probably damaging	Het
Zfp451	A	T	1: 33,816,942 (GRCm39)	V119D	probably damaging	Het
Zfp457	T	A	13: 67,441,342 (GRCm39)	H315L	probably damaging	Het
Zfp518a	T	A	19: 40,904,295 (GRCm39)	V1408D	possibly damaging	Het
Zfp52	T	G	17: 21,780,665 (GRCm39)	L171R	probably benign	Het
Zfp712	C	T	13: 67,188,676 (GRCm39)	C617Y	probably damaging	Het
Zfp770	T	C	2: 114,027,868 (GRCm39)	N67S	probably benign	Het

Other mutations in Adam5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00823:Adam5	APN	8	25,308,758 (GRCm39)	missense	probably benign	0.18
IGL01285:Adam5	APN	8	25,271,610 (GRCm39)	missense	probably benign	0.02
IGL01310:Adam5	APN	8	25,232,150 (GRCm39)	intron	probably benign
IGL01510:Adam5	APN	8	25,294,481 (GRCm39)	missense	probably damaging	1.00
IGL01570:Adam5	APN	8	25,300,839 (GRCm39)	missense	probably damaging	1.00
IGL02017:Adam5	APN	8	25,271,775 (GRCm39)	missense	probably benign	0.38
IGL02191:Adam5	APN	8	25,302,439 (GRCm39)	nonsense	probably null
IGL02397:Adam5	APN	8	25,234,149 (GRCm39)	intron	probably benign
IGL02488:Adam5	APN	8	25,282,022 (GRCm39)	missense	probably damaging	0.98
IGL02490:Adam5	APN	8	25,271,720 (GRCm39)	nonsense	probably null
IGL02499:Adam5	APN	8	25,271,581 (GRCm39)	critical splice donor site	probably null
IGL02539:Adam5	APN	8	25,276,229 (GRCm39)	nonsense	probably null
IGL02590:Adam5	APN	8	25,234,151 (GRCm39)	intron	probably benign
IGL02677:Adam5	APN	8	25,302,395 (GRCm39)	splice site	probably benign
IGL02679:Adam5	APN	8	25,296,542 (GRCm39)	missense	probably damaging	1.00
IGL02982:Adam5	APN	8	25,294,447 (GRCm39)	missense	probably benign	0.02
IGL03146:Adam5	APN	8	25,294,519 (GRCm39)	missense	probably damaging	0.98
IGL03162:Adam5	APN	8	25,271,620 (GRCm39)	missense	probably benign	0.30
IGL03284:Adam5	APN	8	25,276,354 (GRCm39)	splice site	probably benign
R0081:Adam5	UTSW	8	25,271,703 (GRCm39)	missense	probably damaging	1.00
R0377:Adam5	UTSW	8	25,237,557 (GRCm39)	missense	probably benign	0.08
R0398:Adam5	UTSW	8	25,303,448 (GRCm39)	missense	probably benign	0.17
R0771:Adam5	UTSW	8	25,276,315 (GRCm39)	missense	probably benign	0.04
R0925:Adam5	UTSW	8	25,302,441 (GRCm39)	missense	probably benign	0.09
R1547:Adam5	UTSW	8	25,300,729 (GRCm39)	missense	probably benign	0.10
R1985:Adam5	UTSW	8	25,236,755 (GRCm39)	missense	probably benign	0.01
R2115:Adam5	UTSW	8	25,234,161 (GRCm39)	intron	probably benign
R2125:Adam5	UTSW	8	25,305,134 (GRCm39)	missense	probably damaging	1.00
R2144:Adam5	UTSW	8	25,305,496 (GRCm39)	missense	probably benign	0.14
R3151:Adam5	UTSW	8	25,271,647 (GRCm39)	missense	probably damaging	0.99
R3612:Adam5	UTSW	8	25,308,105 (GRCm39)	splice site	probably benign
R3844:Adam5	UTSW	8	25,303,426 (GRCm39)	missense	probably benign	0.12
R3873:Adam5	UTSW	8	25,305,125 (GRCm39)	missense	probably benign	0.02
R4514:Adam5	UTSW	8	25,308,152 (GRCm39)	missense	probably damaging	1.00
R4843:Adam5	UTSW	8	25,303,552 (GRCm39)	missense	probably damaging	1.00
R4866:Adam5	UTSW	8	25,232,172 (GRCm39)	splice site	probably null
R4866:Adam5	UTSW	8	25,271,619 (GRCm39)	missense	probably damaging	0.98
R4900:Adam5	UTSW	8	25,271,619 (GRCm39)	missense	probably damaging	0.98
R4900:Adam5	UTSW	8	25,232,172 (GRCm39)	splice site	probably null
R4903:Adam5	UTSW	8	25,276,248 (GRCm39)	missense	probably damaging	1.00
R4936:Adam5	UTSW	8	25,276,287 (GRCm39)	missense	probably damaging	1.00
R5259:Adam5	UTSW	8	25,300,850 (GRCm39)	missense	possibly damaging	0.90
R5293:Adam5	UTSW	8	25,300,722 (GRCm39)	missense	possibly damaging	0.46
R5724:Adam5	UTSW	8	25,294,511 (GRCm39)	nonsense	probably null
R5859:Adam5	UTSW	8	25,303,477 (GRCm39)	missense	probably benign
R6004:Adam5	UTSW	8	25,271,685 (GRCm39)	missense	probably benign	0.04
R6175:Adam5	UTSW	8	25,276,167 (GRCm39)	missense	probably benign	0.00
R6539:Adam5	UTSW	8	25,272,616 (GRCm39)	missense	possibly damaging	0.85
R6994:Adam5	UTSW	8	25,276,262 (GRCm39)	nonsense	probably null
R6996:Adam5	UTSW	8	25,296,517 (GRCm39)	missense	probably damaging	1.00
R7009:Adam5	UTSW	8	25,296,454 (GRCm39)	missense	probably benign	0.00
R7115:Adam5	UTSW	8	25,271,712 (GRCm39)	missense	possibly damaging	0.69
R7127:Adam5	UTSW	8	25,300,797 (GRCm39)	missense	probably damaging	1.00
R7469:Adam5	UTSW	8	25,305,541 (GRCm39)	missense	probably benign	0.45
R7780:Adam5	UTSW	8	25,294,432 (GRCm39)	missense	possibly damaging	0.49
R8027:Adam5	UTSW	8	25,272,574 (GRCm39)	missense	probably damaging	1.00
R8069:Adam5	UTSW	8	25,303,541 (GRCm39)	missense	probably damaging	1.00
R8138:Adam5	UTSW	8	25,271,778 (GRCm39)	missense	probably damaging	1.00
R8305:Adam5	UTSW	8	25,300,719 (GRCm39)	missense	possibly damaging	0.93
R8359:Adam5	UTSW	8	25,296,502 (GRCm39)	missense	probably damaging	1.00
R8480:Adam5	UTSW	8	25,294,475 (GRCm39)	nonsense	probably null
R8743:Adam5	UTSW	8	25,276,264 (GRCm39)	missense	probably damaging	1.00
R9000:Adam5	UTSW	8	25,294,372 (GRCm39)	critical splice donor site	probably null
R9442:Adam5	UTSW	8	25,296,510 (GRCm39)	missense	probably damaging	0.96
R9474:Adam5	UTSW	8	25,237,540 (GRCm39)	missense	possibly damaging	0.95
R9602:Adam5	UTSW	8	25,303,402 (GRCm39)	missense	probably damaging	0.96
R9748:Adam5	UTSW	8	25,301,068 (GRCm39)	missense	probably benign	0.23
X0019:Adam5	UTSW	8	25,302,459 (GRCm39)	missense	probably benign	0.00
X0022:Adam5	UTSW	8	25,303,579 (GRCm39)	critical splice acceptor site	probably null
X0027:Adam5	UTSW	8	25,308,788 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTTTAGCTGTTACGAGGTGACAC -3'
(R):5'- CTGATTCATCCTAAGGGAGGCC -3'

Sequencing Primer
(F):5'- ACGAGGTGACACATTTTTGTCC -3'
(R):5'- GAGCCTTTCCTTTTACAATGACAGGG -3'

Posted On

2016-04-27