Mutagenetix > Incidental Mutation

Incidental Mutation 'R0195:Adam24'

23371

Institutional Source

Beutler Lab

Gene Symbol

Adam24

Ensembl Gene

ENSMUSG00000046723

Gene Name

ADAM metallopeptidase domain 24

Synonyms

Dtgn5

MMRRC Submission

038454-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.098) question?

Stock #

R0195 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

41128118-41135238 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 41134805 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 758 (W758R)

Ref Sequence

ENSEMBL: ENSMUSP00000050727 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051614]

AlphaFold

Q9R160

Predicted Effect

probably benign
Transcript: ENSMUST00000051614
AA Change: W758R

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000050727
Gene: ENSMUSG00000046723
AA Change: W758R

Domain	Start	End	E-Value	Type
signal peptide	1	34	N/A	INTRINSIC
Pfam:Pep_M12B_propep	39	160	3.3e-14	PFAM
Pfam:Reprolysin_2	193	389	6.3e-13	PFAM
Pfam:Reprolysin	208	398	7.8e-43	PFAM
Pfam:Reprolysin_5	209	382	3e-17	PFAM
Pfam:Reprolysin_4	209	392	4.9e-13	PFAM
Pfam:Reprolysin_3	232	353	9.9e-16	PFAM
DISIN	415	491	7.13e-39	SMART
ACR	492	628	7.74e-69	SMART
transmembrane domain	698	720	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210267

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 89.4%

Validation Efficiency

98% (156/160)

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. Male mice lacking the encoded protein exhibit reduced fertility due to the higher incidence of polyspermic embryos. This gene is located adjacent to other ADAM genes on chromosome 8. [provided by RefSeq, May 2016]
PHENOTYPE: Males homozygous for a targeted null mutation are subfertile and produce an increased number of polyspermic embryos at the pronuclear stage. Female homozygotes show normal fertility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acly	C	G	11: 100,403,800 (GRCm39)	R362P	possibly damaging	Het
Adam26b	G	T	8: 43,973,307 (GRCm39)	T565K	probably damaging	Het
Adam7	T	G	14: 68,765,076 (GRCm39)		probably benign	Het
Adamts19	A	G	18: 59,102,942 (GRCm39)		probably benign	Het
Add1	A	G	5: 34,767,990 (GRCm39)		probably benign	Het
Ago1	A	G	4: 126,357,484 (GRCm39)	C64R	probably benign	Het
Ankrd12	C	T	17: 66,356,943 (GRCm39)		probably null	Het
Arhgef33	A	G	17: 80,688,863 (GRCm39)	K820E	probably damaging	Het
Arl9	T	C	5: 77,154,341 (GRCm39)	V8A	probably damaging	Het
Aspm	T	C	1: 139,406,873 (GRCm39)	L1920P	probably damaging	Het
Atad2	A	G	15: 57,963,350 (GRCm39)		probably benign	Het
Atp2b2	A	T	6: 113,770,835 (GRCm39)	V358E	probably benign	Het
C3ar1	A	C	6: 122,828,114 (GRCm39)	C34W	possibly damaging	Het
C6	G	A	15: 4,792,953 (GRCm39)	V353M	probably benign	Het
Capn7	T	C	14: 31,087,538 (GRCm39)	I593T	probably damaging	Het
Casc3	T	A	11: 98,712,319 (GRCm39)	D119E	probably damaging	Het
Ccna1	T	A	3: 54,961,785 (GRCm39)	E45V	probably damaging	Het
Cdc37	A	G	9: 21,053,576 (GRCm39)	V180A	probably benign	Het
Cdh23	A	G	10: 60,152,838 (GRCm39)	I2393T	probably damaging	Het
Cnbd1	T	C	4: 18,906,988 (GRCm39)		probably benign	Het
Cngb3	A	T	4: 19,280,975 (GRCm39)	M15L	probably benign	Het
Crygn	A	G	5: 24,961,036 (GRCm39)	M90T	possibly damaging	Het
Cse1l	T	A	2: 166,782,008 (GRCm39)	S661R	probably benign	Het
D830013O20Rik	C	T	12: 73,411,095 (GRCm39)		noncoding transcript	Het
Ddx24	C	T	12: 103,385,220 (GRCm39)		probably null	Het
Dnah3	A	T	7: 119,676,998 (GRCm39)		probably null	Het
Dnah9	C	T	11: 65,786,731 (GRCm39)	G3634E	probably benign	Het
Dnttip2	A	T	3: 122,069,810 (GRCm39)	T342S	probably benign	Het
Evx2	G	T	2: 74,489,388 (GRCm39)	R125S	probably damaging	Het
Fbxl5	A	T	5: 43,928,140 (GRCm39)	L40Q	probably damaging	Het
Git1	T	A	11: 77,391,899 (GRCm39)	D240E	probably benign	Het
Glp2r	T	A	11: 67,600,534 (GRCm39)	K438N	probably damaging	Het
Hivep1	T	A	13: 42,309,629 (GRCm39)	I623N	probably benign	Het
Il17re	A	G	6: 113,443,098 (GRCm39)	E312G	probably damaging	Het
Itgb7	G	A	15: 102,130,618 (GRCm39)		probably benign	Het
Itpr3	A	G	17: 27,333,088 (GRCm39)	Y1900C	probably damaging	Het
Krt1c	G	A	15: 101,721,626 (GRCm39)	Q472*	probably null	Het
Krtap5-1	A	C	7: 141,850,434 (GRCm39)	C125G	unknown	Het
Macf1	A	G	4: 123,328,709 (GRCm39)	S2554P	probably damaging	Het
Marchf10	C	T	11: 105,276,351 (GRCm39)	G646R	probably damaging	Het
Mrpl48	A	C	7: 100,195,560 (GRCm39)		probably benign	Het
Myo16	A	T	8: 10,365,538 (GRCm39)		probably benign	Het
Nrcam	A	T	12: 44,631,628 (GRCm39)	E1060D	probably benign	Het
Nsd3	T	A	8: 26,170,709 (GRCm39)	C731S	probably damaging	Het
Nup85	T	G	11: 115,455,357 (GRCm39)	M1R	probably null	Het
Nxnl2	G	T	13: 51,325,483 (GRCm39)	R42L	probably damaging	Het
Oas3	G	A	5: 120,894,210 (GRCm39)	R39C	probably damaging	Het
Or13c25	G	A	4: 52,910,849 (GRCm39)	T315M	probably benign	Het
Orc1	C	T	4: 108,471,505 (GRCm39)	R786*	probably null	Het
P2ry6	A	T	7: 100,587,904 (GRCm39)	W152R	probably damaging	Het
Pex5l	T	C	3: 33,047,102 (GRCm39)	N283D	possibly damaging	Het
Pgk2	T	C	17: 40,518,622 (GRCm39)	I269V	probably benign	Het
Phgdh	T	G	3: 98,223,866 (GRCm39)		probably benign	Het
Pzp	A	T	6: 128,464,441 (GRCm39)	L1362Q	probably damaging	Het
Rbbp9	T	C	2: 144,390,026 (GRCm39)		probably benign	Het
Rffl	A	G	11: 82,700,989 (GRCm39)	L244P	probably damaging	Het
Serpina11	T	C	12: 103,952,131 (GRCm39)	Y213C	probably damaging	Het
Spopfm1	A	G	3: 94,173,229 (GRCm39)	Y79C	possibly damaging	Het
Srsf11	A	G	3: 157,742,172 (GRCm39)		probably benign	Het
Sspo	T	A	6: 48,463,570 (GRCm39)	V3785E	probably benign	Het
Svep1	A	T	4: 58,089,514 (GRCm39)	S1632T	possibly damaging	Het
Tm4sf1	T	A	3: 57,200,480 (GRCm39)	D74V	probably damaging	Het
Tmprss15	T	A	16: 78,831,222 (GRCm39)	T393S	probably benign	Het
Tnfaip3	A	G	10: 18,881,461 (GRCm39)	L275P	probably damaging	Het
Trim30c	A	G	7: 104,031,636 (GRCm39)	V393A	probably benign	Het
Tssk2	T	A	16: 17,717,439 (GRCm39)	S281T	probably benign	Het
Tubb4a	A	G	17: 57,388,499 (GRCm39)	S176P	probably damaging	Het
Unc45b	T	A	11: 82,828,654 (GRCm39)	M785K	probably damaging	Het
Vldlr	A	T	19: 27,215,786 (GRCm39)	D261V	probably damaging	Het
Vmn1r176	G	T	7: 23,535,010 (GRCm39)	Q48K	probably benign	Het
Vmn2r110	A	T	17: 20,794,317 (GRCm39)	L784Q	probably benign	Het
Vps13b	A	G	15: 35,472,045 (GRCm39)	T783A	probably benign	Het
Zfp800	A	G	6: 28,243,846 (GRCm39)	M373T	probably damaging	Het
Zmym1	A	G	4: 126,941,704 (GRCm39)	F895L	possibly damaging	Het

Other mutations in Adam24

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02479:Adam24	APN	8	41,132,571 (GRCm39)	missense	probably benign	0.41
IGL02517:Adam24	APN	8	41,133,218 (GRCm39)	missense	probably damaging	1.00
R1067:Adam24	UTSW	8	41,133,793 (GRCm39)	nonsense	probably null
R1180:Adam24	UTSW	8	41,134,467 (GRCm39)	missense	probably damaging	1.00
R1438:Adam24	UTSW	8	41,134,431 (GRCm39)	missense	probably benign	0.19
R1741:Adam24	UTSW	8	41,132,642 (GRCm39)	missense	probably benign	0.00
R1779:Adam24	UTSW	8	41,134,004 (GRCm39)	missense	possibly damaging	0.83
R1940:Adam24	UTSW	8	41,134,400 (GRCm39)	nonsense	probably null
R2228:Adam24	UTSW	8	41,133,404 (GRCm39)	missense	probably benign	0.00
R2229:Adam24	UTSW	8	41,133,404 (GRCm39)	missense	probably benign	0.00
R2265:Adam24	UTSW	8	41,133,110 (GRCm39)	missense	possibly damaging	0.95
R2359:Adam24	UTSW	8	41,133,984 (GRCm39)	missense	possibly damaging	0.91
R3551:Adam24	UTSW	8	41,132,632 (GRCm39)	missense	probably benign	0.03
R3837:Adam24	UTSW	8	41,133,584 (GRCm39)	missense	probably benign
R4834:Adam24	UTSW	8	41,132,738 (GRCm39)	missense	probably damaging	1.00
R5121:Adam24	UTSW	8	41,132,550 (GRCm39)	missense	probably damaging	1.00
R5410:Adam24	UTSW	8	41,134,103 (GRCm39)	missense	probably benign	0.01
R5787:Adam24	UTSW	8	41,133,941 (GRCm39)	missense	possibly damaging	0.87
R5900:Adam24	UTSW	8	41,134,071 (GRCm39)	missense	probably benign	0.00
R6600:Adam24	UTSW	8	41,133,587 (GRCm39)	missense	probably damaging	1.00
R6633:Adam24	UTSW	8	41,133,526 (GRCm39)	missense	probably benign	0.12
R6672:Adam24	UTSW	8	41,134,572 (GRCm39)	missense	probably benign	0.01
R6904:Adam24	UTSW	8	41,134,542 (GRCm39)	missense	probably damaging	1.00
R7178:Adam24	UTSW	8	41,133,039 (GRCm39)	nonsense	probably null
R7542:Adam24	UTSW	8	41,133,848 (GRCm39)	missense	possibly damaging	0.46
R7578:Adam24	UTSW	8	41,133,294 (GRCm39)	missense	probably benign	0.01
R7708:Adam24	UTSW	8	41,133,558 (GRCm39)	missense	probably damaging	1.00
R8739:Adam24	UTSW	8	41,133,480 (GRCm39)	missense	possibly damaging	0.68
R8823:Adam24	UTSW	8	41,133,228 (GRCm39)	missense	probably benign	0.01
R9282:Adam24	UTSW	8	41,133,674 (GRCm39)	missense	probably damaging	1.00
R9434:Adam24	UTSW	8	41,133,284 (GRCm39)	missense	probably benign	0.04
R9508:Adam24	UTSW	8	41,132,941 (GRCm39)	missense	probably benign	0.28
R9591:Adam24	UTSW	8	41,132,698 (GRCm39)	missense	probably benign	0.00
X0010:Adam24	UTSW	8	41,133,054 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ACCTGCAACATGAAAGGAGTCTGC -3'
(R):5'- AGGATCTCTCACACCAGGATGCTG -3'

Sequencing Primer
(F):5'- ACAGTGGTTCTCCTGGAAAC -3'
(R):5'- GCTGTGTGGTAAATTGCATTAAATC -3'

Posted On

2013-04-16