Mutagenetix > Incidental Mutation

Incidental Mutation 'R2144:Adam5'

236639

Institutional Source

Beutler Lab

Gene Symbol

Adam5

Ensembl Gene

ENSMUSG00000031554

Gene Name

a disintegrin and metallopeptidase domain 5

Synonyms

tMDCII

MMRRC Submission

040147-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R2144 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

25217109-25314385 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 25305496 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 81 (V81F)

Ref Sequence

ENSEMBL: ENSMUSP00000147290 (fasta)

Gene Model

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

AlphaFold

Q3TTE0

Predicted Effect

probably benign
Transcript: ENSMUST00000050300
AA Change: V81F

PolyPhen 2 Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000052661
Gene: ENSMUSG00000031554
AA Change: V81F

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 benign
Transcript: ENSMUST00000118419
AA Change: V81F

PolyPhen 2 Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000112422
Gene: ENSMUSG00000031554
AA Change: V81F

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

probably benign
Transcript: ENSMUST00000132180

SMART Domains

Protein: ENSMUSP00000121272
Gene: ENSMUSG00000031554

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 benign
Transcript: ENSMUST00000209935
AA Change: V81F

PolyPhen 2 Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.1%

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. 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: 117 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930553M12Rik	T	A	4: 88,786,412 (GRCm39)	T69S	unknown	Het
4930553M12Rik	G	A	4: 88,786,411 (GRCm39)	T69I	unknown	Het
Acsl6	A	T	11: 54,232,604 (GRCm39)	Q485L	probably damaging	Het
Aoc1l1	A	G	6: 48,952,225 (GRCm39)	H50R	probably benign	Het
Bag2	A	G	1: 33,785,912 (GRCm39)	S137P	possibly damaging	Het
Birc6	A	T	17: 74,967,408 (GRCm39)	Q4103L	possibly damaging	Het
Camta2	A	G	11: 70,562,401 (GRCm39)	F999L	probably benign	Het
Cap2	A	T	13: 46,713,978 (GRCm39)		probably null	Het
Ccnk	T	A	12: 108,155,349 (GRCm39)	L102Q	probably null	Het
Cd52	T	C	4: 133,821,048 (GRCm39)		probably benign	Het
Cdc123	A	T	2: 5,815,617 (GRCm39)	I160K	probably benign	Het
Cep85l	T	C	10: 53,234,222 (GRCm39)	N52S	probably benign	Het
Cntnap5a	C	T	1: 116,029,440 (GRCm39)	T298I	probably benign	Het
Cpsf4	G	T	5: 145,115,572 (GRCm39)	S192I	probably benign	Het
Cpxm1	A	G	2: 130,239,330 (GRCm39)	S33P	probably benign	Het
Cyp2a12	A	T	7: 26,734,194 (GRCm39)	T376S	possibly damaging	Het
Cyp3a16	A	G	5: 145,392,894 (GRCm39)	F137S	probably damaging	Het
Des	A	G	1: 75,343,448 (GRCm39)	T444A	probably benign	Het
Dgcr8	C	T	16: 18,102,120 (GRCm39)	G54D	probably damaging	Het
Dmac2l	A	G	12: 69,787,828 (GRCm39)	Q88R	probably damaging	Het
Dsc3	A	G	18: 20,113,743 (GRCm39)	F393S	possibly damaging	Het
Dstyk	T	A	1: 132,391,113 (GRCm39)	M838K	probably damaging	Het
Dvl1	G	A	4: 155,932,273 (GRCm39)	V28I	possibly damaging	Het
Eml5	A	C	12: 98,776,864 (GRCm39)	F1417C	probably damaging	Het
Ep400	A	T	5: 110,851,384 (GRCm39)	M1366K	unknown	Het
Epg5	G	T	18: 77,997,412 (GRCm39)	C425F	possibly damaging	Het
Epha3	C	G	16: 63,593,680 (GRCm39)	R136P	possibly damaging	Het
Extl1	C	A	4: 134,098,355 (GRCm39)	E225D	probably benign	Het
Fam186b	A	G	15: 99,178,538 (GRCm39)	Y263H	probably benign	Het
Fbn2	A	G	18: 58,186,065 (GRCm39)	V1761A	possibly damaging	Het
Fer1l6	T	A	15: 58,499,383 (GRCm39)	M1251K	probably benign	Het
Gart	A	T	16: 91,426,969 (GRCm39)	I555N	probably damaging	Het
Gm11596	A	T	11: 99,683,789 (GRCm39)	C110*	probably null	Het
Gnptab	C	T	10: 88,264,368 (GRCm39)	S262L	possibly damaging	Het
Gpr21	T	C	2: 37,408,243 (GRCm39)	V263A	probably benign	Het
Gxylt1	T	C	15: 93,152,361 (GRCm39)	I224V	probably benign	Het
H2-Aa	A	G	17: 34,502,801 (GRCm39)	S122P	probably damaging	Het
Hsph1	A	C	5: 149,553,802 (GRCm39)		probably null	Het
Hunk	G	A	16: 90,229,420 (GRCm39)	D94N	probably damaging	Het
Ikbke	C	A	1: 131,201,211 (GRCm39)	V176L	probably damaging	Het
Inpp5k	A	T	11: 75,538,017 (GRCm39)		probably null	Het
Ints10	A	G	8: 69,249,457 (GRCm39)	T96A	probably damaging	Het
Kansl2	A	T	15: 98,424,512 (GRCm39)	V306E	probably benign	Het
Kif20a	A	G	18: 34,758,657 (GRCm39)	D42G	possibly damaging	Het
Klhl7	A	T	5: 24,305,861 (GRCm39)	M37L	probably benign	Het
Krtap1-5	T	C	11: 99,471,644 (GRCm39)	I50V	probably benign	Het
Ktn1	A	G	14: 47,952,109 (GRCm39)	E983G	probably damaging	Het
Lrrk1	G	A	7: 65,945,911 (GRCm39)	S566L	probably damaging	Het
M6pr	A	G	6: 122,292,326 (GRCm39)	M174V	probably benign	Het
Man2a2	A	G	7: 80,013,264 (GRCm39)	S510P	probably damaging	Het
Mmrn1	G	A	6: 60,922,059 (GRCm39)	S172N	possibly damaging	Het
Mpv17	A	G	5: 31,311,533 (GRCm39)		probably null	Het
Mrgpra9	T	C	7: 46,885,211 (GRCm39)	E152G	probably benign	Het
Mst1r	T	C	9: 107,790,367 (GRCm39)	V660A	probably benign	Het
Myof	A	G	19: 37,969,669 (GRCm39)		probably null	Het
Myrf	G	A	19: 10,206,038 (GRCm39)	P126L	probably benign	Het
Nckap1l	C	T	15: 103,384,103 (GRCm39)	A567V	probably damaging	Het
Nphs1	A	G	7: 30,160,395 (GRCm39)	E169G	probably benign	Het
Npy1r	T	A	8: 67,157,836 (GRCm39)	V382D	probably benign	Het
Nrl	A	T	14: 55,758,307 (GRCm39)	M140K	possibly damaging	Het
Odad2	C	T	18: 7,127,229 (GRCm39)	E995K	probably damaging	Het
Or14c39	T	A	7: 86,344,488 (GRCm39)	F275I	probably damaging	Het
Or2ag1b	A	T	7: 106,288,164 (GRCm39)	M258K	probably damaging	Het
Or4f56	A	G	2: 111,703,768 (GRCm39)	I144T	probably damaging	Het
Or5ac17	C	T	16: 59,036,389 (GRCm39)	V196M	probably benign	Het
Or8d2	C	T	9: 38,759,635 (GRCm39)	T75I	probably damaging	Het
Orc5	T	A	5: 22,752,925 (GRCm39)	L36F	possibly damaging	Het
Osbpl1a	A	T	18: 13,004,230 (GRCm39)	S396T	probably benign	Het
Pappa	T	A	4: 65,099,186 (GRCm39)	Y568*	probably null	Het
Pask	C	T	1: 93,249,019 (GRCm39)	A794T	probably benign	Het
Pclo	C	T	5: 14,908,766 (GRCm39)	L5025F	unknown	Het
Pde3a	T	C	6: 141,435,837 (GRCm39)	V924A	probably benign	Het
Pdpr	A	G	8: 111,844,668 (GRCm39)	N355S	probably damaging	Het
Pepd	A	T	7: 34,620,843 (GRCm39)	K36M	probably benign	Het
Pet100	T	G	8: 3,672,355 (GRCm39)	L14R	probably damaging	Het
Pfkfb2	T	C	1: 130,626,460 (GRCm39)	T438A	probably benign	Het
Pik3r6	T	A	11: 68,434,437 (GRCm39)	L546*	probably null	Het
Pira2	A	T	7: 3,847,344 (GRCm39)	L115Q	probably damaging	Het
Plxdc1	T	C	11: 97,824,838 (GRCm39)	Y339C	probably damaging	Het
Primpol	A	T	8: 47,039,378 (GRCm39)	M414K	probably damaging	Het
Prol1	A	T	5: 88,476,254 (GRCm39)	T215S	unknown	Het
Prss22	A	G	17: 24,213,656 (GRCm39)	Y212H	probably damaging	Het
Ralgapa2	C	A	2: 146,230,524 (GRCm39)	V1014L	probably damaging	Het
Rap1gap2	G	A	11: 74,316,802 (GRCm39)	T245M	probably damaging	Het
Rbm26	T	A	14: 105,352,638 (GRCm39)	R1009*	probably null	Het
Rbm42	A	G	7: 30,340,535 (GRCm39)	*450Q	probably null	Het
Rere	T	C	4: 150,701,388 (GRCm39)	V1256A	probably damaging	Het
Rmi1	G	T	13: 58,555,797 (GRCm39)	L15F	probably damaging	Het
Rnf213	T	C	11: 119,334,516 (GRCm39)	S3242P	probably damaging	Het
Rtel1	T	A	2: 180,965,499 (GRCm39)	V167E	probably damaging	Het
Scgb1b2	G	T	7: 30,991,188 (GRCm39)		probably benign	Het
Sin3b	T	C	8: 73,457,893 (GRCm39)	L203P	probably damaging	Het
Skint6	T	C	4: 113,093,457 (GRCm39)	S229G	possibly damaging	Het
Slco1a4	T	C	6: 141,755,104 (GRCm39)	Y566C	probably damaging	Het
Smgc	T	G	15: 91,728,624 (GRCm39)	D121E	possibly damaging	Het
Sned1	T	A	1: 93,199,406 (GRCm39)	F495L	probably damaging	Het
St7	A	T	6: 17,886,006 (GRCm39)	N52I	possibly damaging	Het
Sycn	C	A	7: 28,240,494 (GRCm39)	Q54K	probably benign	Het
Syngr4	A	G	7: 45,536,464 (GRCm39)	V186A	probably benign	Het
Tars3	G	A	7: 65,305,539 (GRCm39)	M254I	possibly damaging	Het
Tcaf2	A	T	6: 42,619,738 (GRCm39)	H96Q	probably benign	Het
Tcp11l2	T	C	10: 84,449,363 (GRCm39)	Y443H	probably damaging	Het
Tmem200c	A	T	17: 69,149,244 (GRCm39)	Q609L	possibly damaging	Het
Tmx3	G	A	18: 90,535,614 (GRCm39)	G83R	probably damaging	Het
Tpgs2	A	C	18: 25,301,598 (GRCm39)	V23G	possibly damaging	Het
Trhr	T	C	15: 44,060,579 (GRCm39)	V33A	probably benign	Het
Trim66	A	T	7: 109,074,320 (GRCm39)	I647N	probably damaging	Het
Trnt1	A	G	6: 106,755,000 (GRCm39)	K244E	probably damaging	Het
Tsfm	G	A	10: 126,864,314 (GRCm39)	Q134*	probably null	Het
Ttll9	A	G	2: 152,844,927 (GRCm39)	T432A	probably benign	Het
Vmn2r78	C	T	7: 86,603,690 (GRCm39)	L623F	probably damaging	Het
Wdr55	A	G	18: 36,895,419 (GRCm39)	N132S	possibly damaging	Het
Wipf2	A	T	11: 98,787,040 (GRCm39)	R356S	possibly damaging	Het
Wnk1	A	G	6: 119,925,949 (GRCm39)		probably benign	Het
Zfp260	A	G	7: 29,804,765 (GRCm39)	K222E	probably damaging	Het
Zfp300	A	G	X: 20,948,190 (GRCm39)	S525P	possibly damaging	Het
Zfp592	A	G	7: 80,687,950 (GRCm39)	T959A	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
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	25,271,619 (GRCm39)	missense	probably damaging	0.98
R4866:Adam5	UTSW	8	25,232,172 (GRCm39)	splice site	probably null
R4900:Adam5	UTSW	8	25,232,172 (GRCm39)	splice site	probably null
R4900:Adam5	UTSW	8	25,271,619 (GRCm39)	missense	probably damaging	0.98
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
R4964:Adam5	UTSW	8	25,276,248 (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'- GCATGATAGCCCAATTATCCAATC -3'
(R):5'- ATGAGTGGCCCATTAGTGTGC -3'

Sequencing Primer
(F):5'- AGCATCAGAGTAGGTTGT -3'
(R):5'- TTCAAAGGCTAATATCAGTGACAGG -3'

Posted On

2014-10-01