Mutagenetix > Incidental Mutation

Incidental Mutation 'R8359:Adam5'

645918

Institutional Source

Beutler Lab

Gene Symbol

Adam5

Ensembl Gene

ENSMUSG00000031554

Gene Name

a disintegrin and metallopeptidase domain 5

Synonyms

tMDCII

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R8359 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24727093-24824369 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 24806486 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 315 (V315D)

Ref Sequence

ENSEMBL: ENSMUSP00000052661 (fasta)

Gene Model

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

AlphaFold

Q3TTE0

Predicted Effect

probably damaging
Transcript: ENSMUST00000050300
AA Change: V315D

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

SMART Domains

Protein: ENSMUSP00000052661
Gene: ENSMUSG00000031554
AA Change: V315D

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: V315D

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000112422
Gene: ENSMUSG00000031554
AA Change: V315D

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

SMART Domains

Protein: ENSMUSP00000121272
Gene: ENSMUSG00000031554
AA Change: V232D

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: V315D

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

Meta Mutation Damage Score

0.6329

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (55/55)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf1	A	T	17: 43,310,395	I508F	probably damaging	Het
Atpaf2	T	C	11: 60,407,303	D147G	probably damaging	Het
Brwd1	T	C	16: 96,016,209	T1368A	probably damaging	Het
Cacna1s	A	T	1: 136,116,061	E1626V	probably benign	Het
Carm1	G	A	9: 21,569,469	V80I	possibly damaging	Het
Casc4	A	T	2: 121,867,151		probably benign	Het
Cenpw	T	A	10: 30,198,488	D71V	probably damaging	Het
Cit	T	A	5: 115,984,544		probably null	Het
Ckmt1	A	T	2: 121,363,050	T364S	probably benign	Het
Col6a4	T	C	9: 106,068,384	S844G	probably benign	Het
Crybg1	T	C	10: 43,992,542	E1380G	probably benign	Het
Cyp21a1	A	G	17: 34,802,131		probably null	Het
D430042O09Rik	T	C	7: 125,868,851		probably null	Het
Dhodh	A	C	8: 109,606,406	D12E	probably benign	Het
Dnali1	T	A	4: 125,063,667	T95S	probably damaging	Het
Dynlrb1	A	G	2: 155,249,950	N93D	probably benign	Het
Edem1	C	T	6: 108,846,813	A390V	probably benign	Het
Enthd1	T	C	15: 80,474,155	D388G	probably benign	Het
Fam170a	A	G	18: 50,281,610	T108A	probably damaging	Het
Fryl	A	G	5: 73,075,933	S1531P	probably benign	Het
Hspbap1	C	A	16: 35,824,996	N350K	probably benign	Het
Htr3b	A	C	9: 48,947,296	S94R	probably damaging	Het
Ide	A	T	19: 37,330,487	V42E		Het
Igf2r	A	G	17: 12,683,861	V2434A	probably benign	Het
Kif16b	G	A	2: 142,711,857	A1007V	probably benign	Het
Mccc1	C	T	3: 35,964,344	V614I	probably benign	Het
Mos	A	G	4: 3,871,097	Y240H	probably damaging	Het
Myh11	C	T	16: 14,208,231		probably null	Het
Nexn	T	A	3: 152,248,361	D166V	probably damaging	Het
Olfr1192-ps1	A	T	2: 88,652,988	M279L	probably benign	Het
Olfr328	G	T	11: 58,552,203	T12N	probably benign	Het
Olfr510	T	A	7: 108,668,311	N298K	probably benign	Het
Olfr55	G	A	17: 33,176,921	C173Y	probably damaging	Het
Pkp4	A	G	2: 59,350,551	Y1061C	probably damaging	Het
Pla2g6	T	C	15: 79,287,170	D740G	probably damaging	Het
Pla2r1	T	A	2: 60,443,283	I920L	probably benign	Het
Plekha2	A	G	8: 25,088,391	I31T	probably damaging	Het
Ppp1r16b	G	T	2: 158,761,375	V407L	probably benign	Het
Prss50	A	G	9: 110,862,302	I225V	probably damaging	Het
Rmdn2	A	T	17: 79,628,151	E231V		Het
Sema3c	T	C	5: 17,653,728	S42P	possibly damaging	Het
Sh2d1b1	T	A	1: 170,283,124		probably null	Het
Slc22a20	T	C	19: 5,971,526	I483V	probably benign	Het
Slc30a2	T	C	4: 134,349,379	V275A	probably damaging	Het
Slc6a3	T	A	13: 73,544,883	F207L	probably benign	Het
Slc9a1	A	T	4: 133,420,616	Q648H	probably damaging	Het
Slpi	A	T	2: 164,356,055	M1K	probably null	Het
Smc5	A	C	19: 23,234,079	S564A	possibly damaging	Het
Smchd1	A	T	17: 71,431,243	F542L	probably damaging	Het
Sycp1	T	A	3: 102,820,593	K901N	probably damaging	Het
Synpo2l	T	A	14: 20,666,140	T126S	probably benign	Het
Upp2	A	G	2: 58,777,943	N216S	probably benign	Het
Wnk1	T	C	6: 119,992,447	D349G	probably damaging	Het
Zfp180	C	T	7: 24,104,912	A252V	probably benign	Het
Zfr2	C	T	10: 81,242,819	T295I	possibly damaging	Het
Zkscan16	C	T	4: 58,957,230	T504I	possibly damaging	Het

Other mutations in Adam5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00823:Adam5	APN	8	24818742	missense	probably benign	0.18
IGL01285:Adam5	APN	8	24781594	missense	probably benign	0.02
IGL01310:Adam5	APN	8	24742134	intron	probably benign
IGL01510:Adam5	APN	8	24804465	missense	probably damaging	1.00
IGL01570:Adam5	APN	8	24810823	missense	probably damaging	1.00
IGL02017:Adam5	APN	8	24781759	missense	probably benign	0.38
IGL02191:Adam5	APN	8	24812423	nonsense	probably null
IGL02397:Adam5	APN	8	24744133	intron	probably benign
IGL02488:Adam5	APN	8	24792006	missense	probably damaging	0.98
IGL02490:Adam5	APN	8	24781704	nonsense	probably null
IGL02499:Adam5	APN	8	24781565	critical splice donor site	probably null
IGL02539:Adam5	APN	8	24786213	nonsense	probably null
IGL02590:Adam5	APN	8	24744135	intron	probably benign
IGL02677:Adam5	APN	8	24812379	splice site	probably benign
IGL02679:Adam5	APN	8	24806526	missense	probably damaging	1.00
IGL02982:Adam5	APN	8	24804431	missense	probably benign	0.02
IGL03146:Adam5	APN	8	24804503	missense	probably damaging	0.98
IGL03162:Adam5	APN	8	24781604	missense	probably benign	0.30
IGL03284:Adam5	APN	8	24786338	splice site	probably benign
R0081:Adam5	UTSW	8	24781687	missense	probably damaging	1.00
R0377:Adam5	UTSW	8	24747541	missense	probably benign	0.08
R0398:Adam5	UTSW	8	24813432	missense	probably benign	0.17
R0771:Adam5	UTSW	8	24786299	missense	probably benign	0.04
R0925:Adam5	UTSW	8	24812425	missense	probably benign	0.09
R1547:Adam5	UTSW	8	24810713	missense	probably benign	0.10
R1985:Adam5	UTSW	8	24746739	missense	probably benign	0.01
R2115:Adam5	UTSW	8	24744145	intron	probably benign
R2125:Adam5	UTSW	8	24815118	missense	probably damaging	1.00
R2144:Adam5	UTSW	8	24815480	missense	probably benign	0.14
R3151:Adam5	UTSW	8	24781631	missense	probably damaging	0.99
R3612:Adam5	UTSW	8	24818089	splice site	probably benign
R3844:Adam5	UTSW	8	24813410	missense	probably benign	0.12
R3873:Adam5	UTSW	8	24815109	missense	probably benign	0.02
R4514:Adam5	UTSW	8	24818136	missense	probably damaging	1.00
R4843:Adam5	UTSW	8	24813536	missense	probably damaging	1.00
R4866:Adam5	UTSW	8	24742156	splice site	probably null
R4866:Adam5	UTSW	8	24781603	missense	probably damaging	0.98
R4900:Adam5	UTSW	8	24742156	splice site	probably null
R4900:Adam5	UTSW	8	24781603	missense	probably damaging	0.98
R4903:Adam5	UTSW	8	24786232	missense	probably damaging	1.00
R4936:Adam5	UTSW	8	24786271	missense	probably damaging	1.00
R4964:Adam5	UTSW	8	24786232	missense	probably damaging	1.00
R5259:Adam5	UTSW	8	24810834	missense	possibly damaging	0.90
R5293:Adam5	UTSW	8	24810706	missense	possibly damaging	0.46
R5724:Adam5	UTSW	8	24804495	nonsense	probably null
R5859:Adam5	UTSW	8	24813461	missense	probably benign
R6004:Adam5	UTSW	8	24781669	missense	probably benign	0.04
R6175:Adam5	UTSW	8	24786151	missense	probably benign	0.00
R6539:Adam5	UTSW	8	24782600	missense	possibly damaging	0.85
R6994:Adam5	UTSW	8	24786246	nonsense	probably null
R6996:Adam5	UTSW	8	24806501	missense	probably damaging	1.00
R7009:Adam5	UTSW	8	24806438	missense	probably benign	0.00
R7115:Adam5	UTSW	8	24781696	missense	possibly damaging	0.69
R7127:Adam5	UTSW	8	24810781	missense	probably damaging	1.00
R7469:Adam5	UTSW	8	24815525	missense	probably benign	0.45
R7780:Adam5	UTSW	8	24804416	missense	possibly damaging	0.49
R8027:Adam5	UTSW	8	24782558	missense	probably damaging	1.00
R8069:Adam5	UTSW	8	24813525	missense	probably damaging	1.00
R8138:Adam5	UTSW	8	24781762	missense	probably damaging	1.00
R8305:Adam5	UTSW	8	24810703	missense	possibly damaging	0.93
R8480:Adam5	UTSW	8	24804459	nonsense	probably null
R8743:Adam5	UTSW	8	24786248	missense	probably damaging	1.00
R9000:Adam5	UTSW	8	24804356	critical splice donor site	probably null
R9442:Adam5	UTSW	8	24806494	missense	probably damaging	0.96
R9474:Adam5	UTSW	8	24747524	missense	possibly damaging	0.95
R9602:Adam5	UTSW	8	24813386	missense	probably damaging	0.96
R9748:Adam5	UTSW	8	24811052	missense	probably benign	0.23
X0019:Adam5	UTSW	8	24812443	missense	probably benign	0.00
X0022:Adam5	UTSW	8	24813563	critical splice acceptor site	probably null
X0027:Adam5	UTSW	8	24818772	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCGTTACTGGGAAGGGTATAGAATG -3'
(R):5'- CACCTGTGTTCAACAAGCCC -3'

Sequencing Primer
(F):5'- CCAACATCAATTACTTGAATTCAGTG -3'
(R):5'- TGTGTTCAACAAGCCCATCATC -3'

Posted On

2020-09-02