Mutagenetix > Incidental Mutation

Incidental Mutation 'R8021:Adam25'

617368

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.137) question?

Stock #

R8021 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

40752208-40756176 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 40754759 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 354 (A354E)

Ref Sequence

ENSEMBL: ENSMUSP00000094420 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000096663
AA Change: A354E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000094420
Gene: ENSMUSG00000071937
AA Change: A354E

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (74/76)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810010H24Rik	A	G	11: 107,025,927	I12V	unknown	Het
9130011E15Rik	C	T	19: 45,956,741		probably null	Het
A630010A05Rik	C	T	16: 14,589,246	T13I		Het
Acsm5	A	G	7: 119,542,393	E537G	possibly damaging	Het
Adamts3	T	C	5: 89,683,184	K1004E	possibly damaging	Het
Ap3d1	C	A	10: 80,714,301	V699L	probably benign	Het
Arel1	T	G	12: 84,934,958	H216P	possibly damaging	Het
Armc12	T	A	17: 28,530,905	F8I	probably benign	Het
Ascc3	T	A	10: 50,731,648	M1416K	probably benign	Het
Catsperb	A	C	12: 101,588,063	N672T	probably benign	Het
Ccdc30	T	C	4: 119,352,679	H291R	probably benign	Het
Cd33	A	G	7: 43,528,838	V371A	unknown	Het
Cpt1b	A	T	15: 89,421,426	M362K	probably benign	Het
Dusp5	T	A	19: 53,529,498	S61T	probably benign	Het
Eogt	T	G	6: 97,134,330	D190A	probably damaging	Het
Fat3	T	A	9: 15,999,109	I1866F	probably damaging	Het
Fer1l4	T	A	2: 156,022,591	I1668F	probably damaging	Het
Foxn3	A	T	12: 99,388,902	M1K	probably null	Het
Frs3	T	A	17: 47,703,114	V244E	probably damaging	Het
Gm8765	A	G	13: 50,701,094	N256S	possibly damaging	Het
Grik1	C	T	16: 87,914,222	V832I		Het
Gtf2ird2	T	A	5: 134,203,334	V242E	probably benign	Het
Gtpbp2	C	T	17: 46,164,269	R97C	possibly damaging	Het
Habp2	T	A	19: 56,314,053	V263E	probably benign	Het
Iars2	T	A	1: 185,322,457	I337L	probably benign	Het
Ifi204	T	C	1: 173,759,353		probably benign	Het
Itih2	T	C	2: 10,105,652	T543A	probably benign	Het
Kdm2b	A	G	5: 122,932,919	S372P	probably damaging	Het
Kit	T	A	5: 75,615,491	V311E	possibly damaging	Het
Kmt2c	C	G	5: 25,287,119	V4230L	possibly damaging	Het
Lao1	T	C	4: 118,968,477	I498T	probably damaging	Het
Lrp1	G	T	10: 127,548,346	D3641E	possibly damaging	Het
Mapk8ip1	A	T	2: 92,386,415	S477T	possibly damaging	Het
Mast3	C	T	8: 70,788,252	G218S	probably benign	Het
Mical1	T	C	10: 41,482,724	V546A	probably damaging	Het
Nck2	T	C	1: 43,554,260	V209A	probably benign	Het
Ndufs4	A	G	13: 114,307,815		probably null	Het
Nek3	C	T	8: 22,157,190	V139M	probably damaging	Het
Olfr1417	T	C	19: 11,828,892	I45V	probably benign	Het
Olfr863-ps1	A	C	9: 19,942,079	Y120*	probably null	Het
Olfr877	T	A	9: 37,855,296	H159Q	probably damaging	Het
Olfr994	A	T	2: 85,430,652	M59K	probably damaging	Het
Otog	A	T	7: 46,267,342	N901I	probably damaging	Het
Pclo	A	C	5: 14,539,784	Q699H	unknown	Het
Pcnx	C	T	12: 81,918,819	R59*	probably null	Het
Pde12	A	T	14: 26,665,699	Y551*	probably null	Het
Pigg	A	G	5: 108,319,939	D268G	probably damaging	Het
Ppp1r21	A	G	17: 88,549,507	D130G	probably benign	Het
Psip1	T	C	4: 83,459,955	T435A	possibly damaging	Het
Rad54l2	T	C	9: 106,719,641	S189G	probably benign	Het
Rgs14	T	C	13: 55,383,756	C498R	probably damaging	Het
Ripply3	C	A	16: 94,328,510	A5E	probably benign	Het
Rps6ka4	T	C	19: 6,830,409	D676G	probably benign	Het
Rsbn1	T	C	3: 103,928,582	L312S	possibly damaging	Het
Secisbp2	T	A	13: 51,665,628	*415R	probably null	Het
Sephs1	T	A	2: 4,906,623	F336Y	probably benign	Het
Setdb2	A	T	14: 59,423,384	Y103*	probably null	Het
Slit2	T	A	5: 48,302,492	C1371*	probably null	Het
Stab2	C	T	10: 86,905,539	A1239T	possibly damaging	Het
Taf4b	T	A	18: 14,804,524	V218E	probably damaging	Het
Tars2	T	C	3: 95,747,514	N393S	probably benign	Het
Tbc1d30	A	G	10: 121,267,543	M528T	probably benign	Het
Tchp	A	G	5: 114,718,417	E363G	probably damaging	Het
Tec	T	A	5: 72,757,469	N568I	probably benign	Het
Ticam1	A	G	17: 56,270,089	S669P	unknown	Het
Tnk1	A	G	11: 69,854,984	S372P	probably benign	Het
Tnpo2	G	A	8: 85,055,206	A847T	probably damaging	Het
Tsc1	A	T	2: 28,686,889	I1068F	possibly damaging	Het
Ttc14	T	A	3: 33,809,121	Y559*	probably null	Het
Ttc41	C	A	10: 86,733,714	T652N	probably benign	Het
Tut1	T	A	19: 8,955,509	S69T	probably benign	Het
Uck1	T	C	2: 32,259,917	S40G	probably benign	Het
Vmn2r76	G	A	7: 86,225,750	T673I	probably damaging	Het
Vps13d	G	T	4: 145,148,675	P1760H		Het
Zbp1	T	C	2: 173,209,210	N289S	possibly damaging	Het
Zc3hav1l	C	A	6: 38,297,947		probably benign	Het
Zzef1	A	T	11: 72,823,416	D244V	probably damaging	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
R5791:Adam25	UTSW	8	40754220	missense	probably benign
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
R8499:Adam25	UTSW	8	40755152	missense	probably damaging	1.00
R8686:Adam25	UTSW	8	40755484	missense	probably benign	0.44
R8715:Adam25	UTSW	8	40754062	missense	probably benign	0.00
R8847:Adam25	UTSW	8	40753709	missense	probably benign
R8921:Adam25	UTSW	8	40754673	nonsense	probably null
R9120:Adam25	UTSW	8	40756104	utr 3 prime	probably benign
R9158:Adam25	UTSW	8	40755608	missense	probably damaging	1.00
R9339:Adam25	UTSW	8	40753874	missense	probably damaging	1.00
R9348:Adam25	UTSW	8	40755916	missense	probably benign
R9454:Adam25	UTSW	8	40754449	missense	probably damaging	0.99
R9492:Adam25	UTSW	8	40753699	start codon destroyed	probably benign	0.12
R9680:Adam25	UTSW	8	40755202	missense	probably damaging	1.00
RF006:Adam25	UTSW	8	40755797	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGAAACCACGTGCAGGTAC -3'
(R):5'- TTCCTTGCGCATACACTTGG -3'

Sequencing Primer
(F):5'- TATGTGGAAGGCTCGCAGC -3'
(R):5'- CATACACTTGGCAGTAGCGTATG -3'

Posted On

2020-01-23