Mutagenetix > Incidental Mutation

Incidental Mutation 'R5787:Adam24'

448087

Institutional Source

Beutler Lab

Gene Symbol

Adam24

Ensembl Gene

ENSMUSG00000046723

Gene Name

ADAM metallopeptidase domain 24

Synonyms

Dtgn5

Accession Numbers

Essential gene?

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

Stock #

R5787 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

41128118-41135238 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 41133941 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 470 (N470D)

Ref Sequence

ENSEMBL: ENSMUSP00000050727 (fasta)

Gene Model

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

AlphaFold

Q9R160

Predicted Effect

possibly damaging
Transcript: ENSMUST00000051614
AA Change: N470D

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000050727
Gene: ENSMUSG00000046723
AA Change: N470D

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

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. 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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot11	C	T	4: 106,617,327 (GRCm39)	G240R	probably damaging	Het
Adcy8	T	C	15: 64,576,067 (GRCm39)	D1027G	probably damaging	Het
Amph	A	T	13: 19,132,624 (GRCm39)	I8F	possibly damaging	Het
Ankrd60	TGGCCACGCGG	TGG	2: 173,419,882 (GRCm39)		probably null	Het
Ano5	G	A	7: 51,216,066 (GRCm39)	D348N	possibly damaging	Het
Atp6v0a1	A	G	11: 100,909,400 (GRCm39)	D43G	probably benign	Het
Bltp1	T	C	3: 37,046,882 (GRCm39)		probably null	Het
Btnl10	T	A	11: 58,811,169 (GRCm39)	I164N	probably damaging	Het
Ccdc174	C	T	6: 91,858,291 (GRCm39)	Q71*	probably null	Het
Ceacam3	G	A	7: 16,888,971 (GRCm39)	E247K	possibly damaging	Het
Chrna2	A	G	14: 66,386,457 (GRCm39)	D201G	probably benign	Het
Clasp2	G	A	9: 113,691,310 (GRCm39)	D448N	probably damaging	Het
Clcn2	C	A	16: 20,522,183 (GRCm39)	R829L	probably damaging	Het
Clock	A	G	5: 76,384,898 (GRCm39)	S440P	probably damaging	Het
Cntn2	T	C	1: 132,450,797 (GRCm39)	D29G	probably damaging	Het
Cpne4	A	G	9: 104,899,600 (GRCm39)	T428A	probably benign	Het
Cul3	T	C	1: 80,260,438 (GRCm39)	I304V	probably benign	Het
Cyp11a1	C	A	9: 57,922,550 (GRCm39)	Q77K	probably benign	Het
Cyp3a25	A	G	5: 145,935,313 (GRCm39)	V101A	probably benign	Het
Cyp4f15	T	C	17: 32,921,782 (GRCm39)	F485L	probably damaging	Het
Des	T	A	1: 75,340,290 (GRCm39)	V399E	probably damaging	Het
Dhx58	T	C	11: 100,592,145 (GRCm39)	D301G	possibly damaging	Het
Ear6	A	G	14: 52,091,855 (GRCm39)	E134G	probably benign	Het
Eif2b3	A	G	4: 116,901,637 (GRCm39)	D100G	probably damaging	Het
Erich1	T	C	8: 14,083,776 (GRCm39)		probably null	Het
Gm4787	G	C	12: 81,424,604 (GRCm39)	T518S	probably benign	Het
Htr4	T	C	18: 62,546,693 (GRCm39)	V82A	probably damaging	Het
Hydin	A	G	8: 111,052,985 (GRCm39)	D219G	probably damaging	Het
Ifit1	T	A	19: 34,624,975 (GRCm39)	V37E	probably benign	Het
Isg20	T	A	7: 78,569,558 (GRCm39)	D176E	probably benign	Het
Islr2	A	G	9: 58,105,637 (GRCm39)	V585A	probably damaging	Het
Kat6a	A	G	8: 23,422,663 (GRCm39)	E991G	probably damaging	Het
Kcnv1	T	C	15: 44,977,726 (GRCm39)	Y104C	probably damaging	Het
Lrtm1	G	C	14: 28,743,947 (GRCm39)	E138D	possibly damaging	Het
Mllt3	A	T	4: 87,759,057 (GRCm39)	D330E	probably damaging	Het
Mpp7	T	C	18: 7,461,682 (GRCm39)	N64D	probably benign	Het
Naip6	G	T	13: 100,436,724 (GRCm39)	Q600K	probably benign	Het
Nop9	T	G	14: 55,983,791 (GRCm39)	C141G	possibly damaging	Het
Nos1ap	T	C	1: 170,146,141 (GRCm39)	E471G	probably benign	Het
Npr2	A	G	4: 43,633,593 (GRCm39)	T246A	possibly damaging	Het
Or2t1	A	C	14: 14,328,725 (GRCm38)	M205L	probably damaging	Het
Or4a76	T	A	2: 89,461,018 (GRCm39)	I75F	probably benign	Het
Or6z1	A	T	7: 6,504,989 (GRCm39)	S79T	probably damaging	Het
Pdlim4	T	A	11: 53,946,042 (GRCm39)	D271V	probably damaging	Het
Pik3r6	T	C	11: 68,430,753 (GRCm39)	V518A	possibly damaging	Het
Rab5a	C	T	17: 53,804,650 (GRCm39)	P87S	probably damaging	Het
Rbsn	C	T	6: 92,176,797 (GRCm39)	V239I	possibly damaging	Het
Rsph14	T	A	10: 74,793,460 (GRCm39)	I314F	possibly damaging	Het
S1pr2	A	T	9: 20,879,232 (GRCm39)	S199T	probably benign	Het
Scrib	A	G	15: 75,931,151 (GRCm39)	L902P	probably damaging	Het
Slc25a23	T	C	17: 57,360,825 (GRCm39)	T200A	probably damaging	Het
Slc8a1	A	T	17: 81,696,166 (GRCm39)	I956N	probably damaging	Het
Spef2	A	G	15: 9,748,812 (GRCm39)	V15A	possibly damaging	Het
Stim1	T	A	7: 102,084,647 (GRCm39)	V533E	possibly damaging	Het
Tbck	A	T	3: 132,443,329 (GRCm39)	D585V	probably damaging	Het
Tpr	T	A	1: 150,271,037 (GRCm39)	L80Q	probably benign	Het
Trim67	C	T	8: 125,521,051 (GRCm39)	R138*	probably null	Het
Ttn	T	C	2: 76,580,627 (GRCm39)	N23422S	probably damaging	Het
Uba6	A	G	5: 86,260,511 (GRCm39)	*1023Q	probably null	Het
Vmn1r208	T	C	13: 22,956,841 (GRCm39)	N219D	possibly damaging	Het
Vmn1r8	T	A	6: 57,013,244 (GRCm39)	S98R	probably 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
R0195:Adam24	UTSW	8	41,134,805 (GRCm39)	missense	probably benign	0.00
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
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'- ATAGAGAGCCCAGACCTTCTG -3'
(R):5'- TCCGATGCTTTCATGGCAAG -3'

Sequencing Primer
(F):5'- CCAATTGAAGGTCTGTGGGAATG -3'
(R):5'- CTTTCATGGCAAGCTGGC -3'

Posted On

2016-12-15