Mutagenetix > Incidental Mutations

Incidental Mutation 'R5791:Adam25'

446976

Institutional Source

Beutler Lab

Gene Symbol

Adam25

Ensembl Gene

ENSMUSG00000071937

Gene Name

a disintegrin and metallopeptidase domain 25 (testase 2)

Synonyms

testase 2

MMRRC Submission

043207-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R5791 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

40752208-40756176 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 40754220 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Histidine at position 174 (Q174H)

Ref Sequence

ENSEMBL: ENSMUSP00000094420 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096663]

Predicted Effect

probably benign
Transcript: ENSMUST00000096663
AA Change: Q174H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000094420
Gene: ENSMUSG00000071937
AA Change: Q174H

Domain	Start	End	E-Value	Type
Pfam:Pep_M12B_propep	53	179	3.4e-21	PFAM
Pfam:Reprolysin_5	220	398	1.6e-16	PFAM
Pfam:Reprolysin_4	220	407	2.5e-13	PFAM
Pfam:Reprolysin	221	410	5.6e-46	PFAM
Pfam:Reprolysin_2	222	399	9.7e-14	PFAM
Pfam:Reprolysin_3	246	366	1e-18	PFAM
DISIN	428	503	3.33e-39	SMART
ACR	504	640	8.95e-74	SMART
transmembrane domain	706	728	N/A	INTRINSIC

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 96.1%

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. This gene is expressed in a regulated fashion during spermatogenesis. The encoded preproprotein undergoes proteolytic processing to generate a mature, functional metalloprotease enzyme. This gene is located adjacent to other ADAM genes on chromosome 8. [provided by RefSeq, May 2016]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adipor2	A	T	6: 119,361,905	M129K	possibly damaging	Het
AI314180	C	T	4: 58,814,027	E1360K	possibly damaging	Het
AI314180	T	A	4: 58,822,111	D1152V	probably damaging	Het
Arhgap29	T	A	3: 122,014,245	M616K	probably damaging	Het
Calcrl	A	T	2: 84,351,265	F180I	probably damaging	Het
Cdh4	T	C	2: 179,895,767	V864A	probably damaging	Het
Cep78	A	G	19: 15,961,072	F504S	probably benign	Het
Coasy	A	G	11: 101,084,385		probably null	Het
Dnah3	T	C	7: 119,931,473	N751S	probably benign	Het
Eea1	T	A	10: 96,019,995	N631K	probably benign	Het
Fam149b	A	G	14: 20,351,326	K27R	probably damaging	Het
Fbxw26	A	G	9: 109,745,153	W42R	probably damaging	Het
Gas6	A	G	8: 13,470,217		probably null	Het
Gfral	C	T	9: 76,197,046	R228Q	probably benign	Het
Gm11595	G	A	11: 99,772,555	R100C	unknown	Het
Gmppa	T	C	1: 75,442,255	V324A	possibly damaging	Het
Gstm2	C	T	3: 107,984,128		probably null	Het
Kcng3	A	G	17: 83,588,210	S276P	probably benign	Het
Lrrd1	T	C	5: 3,851,254	S520P	probably benign	Het
Lrrn2	A	G	1: 132,937,767	N190S	probably benign	Het
Lrwd1	G	C	5: 136,131,033	A392G	probably benign	Het
Mab21l2	A	G	3: 86,546,737	Y319H	probably damaging	Het
Ndufv3	A	G	17: 31,527,408	N91D	probably benign	Het
Nfatc2	T	A	2: 168,536,393	M451L	probably benign	Het
Olfr980	A	T	9: 40,006,734	S72T	probably damaging	Het
Pcdhgb2	G	T	18: 37,692,340	V795F	possibly damaging	Het
Pdcd11	T	A	19: 47,110,991	M843K	possibly damaging	Het
Pla2g4c	T	A	7: 13,339,692	N221K	probably benign	Het
Ppox	T	C	1: 171,277,312	Y422C	probably damaging	Het
Retreg3	A	G	11: 101,100,943	S55P	probably damaging	Het
Rnf103	C	A	6: 71,508,925	T180K	probably damaging	Het
Tbl3	A	T	17: 24,704,434	L307H	probably damaging	Het
Tex26	A	T	5: 149,439,775		probably null	Het
Tln2	A	T	9: 67,386,605	I247K	probably damaging	Het
Txlnb	T	C	10: 17,799,128	S10P	probably benign	Het
Vwde	C	A	6: 13,195,986	E347*	probably null	Het
Wasf1	G	A	10: 40,926,574	R75Q	probably damaging	Het
Zfp14	A	G	7: 30,038,262	S433P	probably damaging	Het
Zfp647	G	T	15: 76,918,006	A2E	unknown	Het

Other mutations in Adam25

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01444:Adam25	APN	8	40754921	missense	probably benign
IGL01977:Adam25	APN	8	40755097	missense	probably benign	0.00
IGL02098:Adam25	APN	8	40755643	missense	probably benign	0.12
IGL02233:Adam25	APN	8	40755386	missense	probably damaging	1.00
IGL02458:Adam25	APN	8	40753807	missense	probably benign	0.01
IGL02527:Adam25	APN	8	40753748	missense	possibly damaging	0.78
IGL02632:Adam25	APN	8	40755200	missense	possibly damaging	0.90
IGL02995:Adam25	APN	8	40753723	missense	probably benign	0.00
H8786:Adam25	UTSW	8	40754224	missense	probably benign	0.00
R0062:Adam25	UTSW	8	40754792	missense	probably damaging	1.00
R0062:Adam25	UTSW	8	40754792	missense	probably damaging	1.00
R0189:Adam25	UTSW	8	40755430	missense	probably damaging	1.00
R0505:Adam25	UTSW	8	40755224	missense	probably damaging	1.00
R0532:Adam25	UTSW	8	40755950	missense	probably benign	0.00
R0699:Adam25	UTSW	8	40755974	missense	probably benign
R0972:Adam25	UTSW	8	40755131	missense	probably damaging	1.00
R1053:Adam25	UTSW	8	40754731	missense	probably benign	0.30
R1079:Adam25	UTSW	8	40755476	missense	possibly damaging	0.87
R1872:Adam25	UTSW	8	40755226	nonsense	probably null
R1933:Adam25	UTSW	8	40754885	missense	probably benign	0.01
R1934:Adam25	UTSW	8	40754885	missense	probably benign	0.01
R4061:Adam25	UTSW	8	40753782	missense	possibly damaging	0.67
R4702:Adam25	UTSW	8	40754126	missense	probably damaging	1.00
R4703:Adam25	UTSW	8	40754126	missense	probably damaging	1.00
R4705:Adam25	UTSW	8	40754126	missense	probably damaging	1.00
R4859:Adam25	UTSW	8	40754543	missense	probably benign	0.01
R5015:Adam25	UTSW	8	40754634	missense	probably benign	0.22
R5249:Adam25	UTSW	8	40755954	missense	probably benign
R5628:Adam25	UTSW	8	40755710	missense	probably benign	0.00
R6439:Adam25	UTSW	8	40754590	missense	possibly damaging	0.92
R6693:Adam25	UTSW	8	40754531	missense	probably damaging	1.00
R7041:Adam25	UTSW	8	40754084	missense	probably benign	0.04
R7101:Adam25	UTSW	8	40755401	missense	probably benign	0.00
R7531:Adam25	UTSW	8	40753877	missense	probably damaging	0.99
R7600:Adam25	UTSW	8	40755817	missense	probably benign	0.01
R7634:Adam25	UTSW	8	40754846	missense	probably benign	0.00
R7964:Adam25	UTSW	8	40755539	missense	probably damaging	0.99
R8017:Adam25	UTSW	8	40754087	missense	possibly damaging	0.56
R8021:Adam25	UTSW	8	40754759	missense	probably damaging	1.00
R8499:Adam25	UTSW	8	40755152	missense	probably damaging	1.00
RF006:Adam25	UTSW	8	40755797	missense	probably benign

Predicted Primers

Posted On

2016-12-15