Mutagenetix > Incidental Mutation

Incidental Mutation 'R1933:Adam25'

215575

Institutional Source

Beutler Lab

Gene Symbol

Adam25

Ensembl Gene

ENSMUSG00000071937

Gene Name

ADAM metallopeptidase domain 25

Synonyms

testase 2

MMRRC Submission

039951-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

R1933 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

41205245-41209213 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 41207922 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 396 (Y396F)

Ref Sequence

ENSEMBL: ENSMUSP00000094420 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000096663
AA Change: Y396F

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000094420
Gene: ENSMUSG00000071937
AA Change: Y396F

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: 97.5%
3x: 97.0%
10x: 95.7%
20x: 93.4%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adra2a	T	A	19: 54,034,837 (GRCm39)	F64L	probably damaging	Het
Ankrd45	A	T	1: 160,978,870 (GRCm39)	N103I	probably damaging	Het
Arhgef7	C	A	8: 11,858,713 (GRCm39)		probably null	Het
Bsn	A	G	9: 107,993,643 (GRCm39)	V703A	possibly damaging	Het
Btaf1	T	A	19: 36,950,357 (GRCm39)	I529K	probably damaging	Het
Ccdc110	A	G	8: 46,396,287 (GRCm39)	N726S	probably damaging	Het
Ccdc78	T	A	17: 26,006,044 (GRCm39)	S71T	probably damaging	Het
Cct5	G	T	15: 31,591,154 (GRCm39)	Q516K	probably benign	Het
Cd300c2	A	T	11: 114,891,685 (GRCm39)	V63E	probably benign	Het
Cdh16	A	G	8: 105,344,595 (GRCm39)	V7A	possibly damaging	Het
Clec16a	T	C	16: 10,506,403 (GRCm39)	F710L	probably damaging	Het
Clpb	T	G	7: 101,428,418 (GRCm39)	F393V	probably damaging	Het
Commd9	G	A	2: 101,731,376 (GRCm39)	R187H	probably damaging	Het
Crx	T	A	7: 15,602,301 (GRCm39)	K126*	probably null	Het
Dcaf13	T	A	15: 39,001,483 (GRCm39)	Y264N	probably damaging	Het
Dnah12	T	A	14: 26,455,650 (GRCm39)	I791N	probably damaging	Het
Dpy19l1	A	T	9: 24,345,683 (GRCm39)	D456E	probably damaging	Het
Dscam	A	G	16: 96,394,414 (GRCm39)	S1963P	probably benign	Het
Efl1	C	T	7: 82,412,325 (GRCm39)	Q905*	probably null	Het
Farsa	T	C	8: 85,587,780 (GRCm39)	F104L	probably benign	Het
Fbxl19	C	A	7: 127,350,101 (GRCm39)	A231E	probably benign	Het
Fbxw19	A	T	9: 109,310,718 (GRCm39)	N401K	probably benign	Het
Foxp1	TTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG	6: 99,052,926 (GRCm39)		probably benign	Het
Frem3	A	G	8: 81,339,519 (GRCm39)	N604S	probably benign	Het
Gad1	T	G	2: 70,417,736 (GRCm39)	C312G	possibly damaging	Het
Garem2	G	T	5: 30,319,860 (GRCm39)	E441*	probably null	Het
Glra3	G	T	8: 56,393,942 (GRCm39)	A18S	probably benign	Het
Gm8206	A	T	14: 6,022,475 (GRCm38)	M8K	probably benign	Het
Gpr162	G	A	6: 124,838,410 (GRCm39)	S80F	probably damaging	Het
Grpr	C	A	X: 162,332,137 (GRCm39)	V53L	probably benign	Het
Il21	C	T	3: 37,286,635 (GRCm39)	R27H	probably benign	Het
Il21r	C	T	7: 125,228,153 (GRCm39)	T208I	possibly damaging	Het
Kcnab2	T	C	4: 152,520,323 (GRCm39)	T6A	possibly damaging	Het
Klra4	T	A	6: 130,042,207 (GRCm39)	Q20L	possibly damaging	Het
Lrrtm1	A	T	6: 77,221,949 (GRCm39)		probably null	Het
Lrrtm3	A	G	10: 63,924,292 (GRCm39)	F292L	possibly damaging	Het
Mpeg1	A	T	19: 12,440,011 (GRCm39)	K490*	probably null	Het
Myh14	C	T	7: 44,264,772 (GRCm39)	M1671I	probably benign	Het
Nebl	A	T	2: 17,380,103 (GRCm39)	M757K	probably damaging	Het
Or51m1	G	T	7: 103,578,337 (GRCm39)	M102I	probably damaging	Het
Or56b1b	A	C	7: 108,164,730 (GRCm39)	F91V	possibly damaging	Het
Or5aq1	T	A	2: 86,966,188 (GRCm39)	H159L	probably damaging	Het
Pkhd1l1	A	T	15: 44,404,280 (GRCm39)	H2303L	possibly damaging	Het
Podxl2	C	T	6: 88,826,587 (GRCm39)	V240M	probably benign	Het
Ppp2r5e	C	G	12: 75,516,341 (GRCm39)	A239P	probably damaging	Het
Prss53	T	C	7: 127,485,434 (GRCm39)	*553W	probably null	Het
Psma3	T	A	12: 71,031,468 (GRCm39)	M43K	probably benign	Het
Rad50	G	T	11: 53,570,888 (GRCm39)	T790K	probably benign	Het
Rasgrf1	G	T	9: 89,835,966 (GRCm39)	Q231H	probably damaging	Het
Rpn1	T	A	6: 88,070,841 (GRCm39)	V237E	probably damaging	Het
Scn10a	T	A	9: 119,439,064 (GRCm39)	M1601L	probably damaging	Het
Sema4f	G	T	6: 82,907,908 (GRCm39)	P180Q	probably damaging	Het
Serpinb5	A	G	1: 106,803,851 (GRCm39)	E8G	probably damaging	Het
Sgcg	C	T	14: 61,469,861 (GRCm39)	V167I	possibly damaging	Het
Slc25a13	C	T	6: 6,109,262 (GRCm39)	V367M	probably damaging	Het
Spata31	T	C	13: 65,068,424 (GRCm39)	S191P	probably benign	Het
Srbd1	A	G	17: 86,410,321 (GRCm39)	V537A	probably damaging	Het
Srgap1	G	T	10: 121,761,808 (GRCm39)	D113E	possibly damaging	Het
Srl	A	G	16: 4,310,214 (GRCm39)	I505T	probably damaging	Het
St14	G	A	9: 31,017,508 (GRCm39)	T226I	probably benign	Het
Stard9	T	A	2: 120,529,137 (GRCm39)	I1798N	possibly damaging	Het
Sugp1	A	G	8: 70,509,225 (GRCm39)	E166G	possibly damaging	Het
Susd1	A	T	4: 59,351,695 (GRCm39)	N455K	possibly damaging	Het
Sytl3	T	A	17: 7,000,445 (GRCm39)	V205E	probably damaging	Het
Tenm4	A	G	7: 96,544,533 (GRCm39)	Y2183C	probably damaging	Het
Tktl2	G	A	8: 66,964,999 (GRCm39)	V186M	probably damaging	Het
Tlcd3b	T	A	7: 126,426,844 (GRCm39)		probably null	Het
Tlr1	T	G	5: 65,082,781 (GRCm39)	T599P	possibly damaging	Het
Trpc6	G	A	9: 8,656,546 (GRCm39)	D658N	probably damaging	Het
Ttc39b	A	G	4: 83,150,957 (GRCm39)	V546A	possibly damaging	Het
Ube3c	T	C	5: 29,824,657 (GRCm39)	Y561H	probably damaging	Het
Vmn1r29	T	A	6: 58,284,405 (GRCm39)	S42T	probably benign	Het
Vps4a	T	C	8: 107,771,190 (GRCm39)	V392A	probably benign	Het
Wdfy4	T	C	14: 32,855,301 (GRCm39)	E771G	probably benign	Het
Whrn	G	A	4: 63,333,876 (GRCm39)	Q415*	probably null	Het
Wnt5a	C	T	14: 28,233,802 (GRCm39)	P10L	probably benign	Het
Zfhx2	T	C	14: 55,312,695 (GRCm39)		probably benign	Het
Zfp451	T	C	1: 33,816,903 (GRCm39)	K132R	probably damaging	Het

Other mutations in Adam25

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01444:Adam25	APN	8	41,207,958 (GRCm39)	missense	probably benign
IGL01977:Adam25	APN	8	41,208,134 (GRCm39)	missense	probably benign	0.00
IGL02098:Adam25	APN	8	41,208,680 (GRCm39)	missense	probably benign	0.12
IGL02233:Adam25	APN	8	41,208,423 (GRCm39)	missense	probably damaging	1.00
IGL02458:Adam25	APN	8	41,206,844 (GRCm39)	missense	probably benign	0.01
IGL02527:Adam25	APN	8	41,206,785 (GRCm39)	missense	possibly damaging	0.78
IGL02632:Adam25	APN	8	41,208,237 (GRCm39)	missense	possibly damaging	0.90
IGL02995:Adam25	APN	8	41,206,760 (GRCm39)	missense	probably benign	0.00
H8786:Adam25	UTSW	8	41,207,261 (GRCm39)	missense	probably benign	0.00
R0062:Adam25	UTSW	8	41,207,829 (GRCm39)	missense	probably damaging	1.00
R0062:Adam25	UTSW	8	41,207,829 (GRCm39)	missense	probably damaging	1.00
R0189:Adam25	UTSW	8	41,208,467 (GRCm39)	missense	probably damaging	1.00
R0505:Adam25	UTSW	8	41,208,261 (GRCm39)	missense	probably damaging	1.00
R0532:Adam25	UTSW	8	41,208,987 (GRCm39)	missense	probably benign	0.00
R0699:Adam25	UTSW	8	41,209,011 (GRCm39)	missense	probably benign
R0972:Adam25	UTSW	8	41,208,168 (GRCm39)	missense	probably damaging	1.00
R1053:Adam25	UTSW	8	41,207,768 (GRCm39)	missense	probably benign	0.30
R1079:Adam25	UTSW	8	41,208,513 (GRCm39)	missense	possibly damaging	0.87
R1872:Adam25	UTSW	8	41,208,263 (GRCm39)	nonsense	probably null
R1934:Adam25	UTSW	8	41,207,922 (GRCm39)	missense	probably benign	0.01
R4061:Adam25	UTSW	8	41,206,819 (GRCm39)	missense	possibly damaging	0.67
R4702:Adam25	UTSW	8	41,207,163 (GRCm39)	missense	probably damaging	1.00
R4703:Adam25	UTSW	8	41,207,163 (GRCm39)	missense	probably damaging	1.00
R4705:Adam25	UTSW	8	41,207,163 (GRCm39)	missense	probably damaging	1.00
R4859:Adam25	UTSW	8	41,207,580 (GRCm39)	missense	probably benign	0.01
R5015:Adam25	UTSW	8	41,207,671 (GRCm39)	missense	probably benign	0.22
R5249:Adam25	UTSW	8	41,208,991 (GRCm39)	missense	probably benign
R5628:Adam25	UTSW	8	41,208,747 (GRCm39)	missense	probably benign	0.00
R5791:Adam25	UTSW	8	41,207,257 (GRCm39)	missense	probably benign
R6439:Adam25	UTSW	8	41,207,627 (GRCm39)	missense	possibly damaging	0.92
R6693:Adam25	UTSW	8	41,207,568 (GRCm39)	missense	probably damaging	1.00
R7041:Adam25	UTSW	8	41,207,121 (GRCm39)	missense	probably benign	0.04
R7101:Adam25	UTSW	8	41,208,438 (GRCm39)	missense	probably benign	0.00
R7531:Adam25	UTSW	8	41,206,914 (GRCm39)	missense	probably damaging	0.99
R7600:Adam25	UTSW	8	41,208,854 (GRCm39)	missense	probably benign	0.01
R7634:Adam25	UTSW	8	41,207,883 (GRCm39)	missense	probably benign	0.00
R7964:Adam25	UTSW	8	41,208,576 (GRCm39)	missense	probably damaging	0.99
R8017:Adam25	UTSW	8	41,207,124 (GRCm39)	missense	possibly damaging	0.56
R8021:Adam25	UTSW	8	41,207,796 (GRCm39)	missense	probably damaging	1.00
R8499:Adam25	UTSW	8	41,208,189 (GRCm39)	missense	probably damaging	1.00
R8686:Adam25	UTSW	8	41,208,521 (GRCm39)	missense	probably benign	0.44
R8715:Adam25	UTSW	8	41,207,099 (GRCm39)	missense	probably benign	0.00
R8847:Adam25	UTSW	8	41,206,746 (GRCm39)	missense	probably benign
R8921:Adam25	UTSW	8	41,207,710 (GRCm39)	nonsense	probably null
R9120:Adam25	UTSW	8	41,209,141 (GRCm39)	utr 3 prime	probably benign
R9158:Adam25	UTSW	8	41,208,645 (GRCm39)	missense	probably damaging	1.00
R9339:Adam25	UTSW	8	41,206,911 (GRCm39)	missense	probably damaging	1.00
R9348:Adam25	UTSW	8	41,208,953 (GRCm39)	missense	probably benign
R9454:Adam25	UTSW	8	41,207,486 (GRCm39)	missense	probably damaging	0.99
R9492:Adam25	UTSW	8	41,206,736 (GRCm39)	start codon destroyed	probably benign	0.12
R9680:Adam25	UTSW	8	41,208,239 (GRCm39)	missense	probably damaging	1.00
RF006:Adam25	UTSW	8	41,208,834 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GCCATCTCATAACTGTGGAGTTG -3'
(R):5'- TGGCAATATAAGCAGCAAAGCC -3'

Sequencing Primer
(F):5'- ATCTCATAACTGTGGAGTTGATCGTC -3'
(R):5'- CAGCGCCATCTTTGAGGGTG -3'

Posted On

2014-07-14