Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03217:Adam2'

413503

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adam2

Ensembl Gene

ENSMUSG00000022039

Gene Name

a disintegrin and metallopeptidase domain 2

Synonyms

fertilin beta, Ph30-beta, Ftnb

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03217

Quality Score

Status

Chromosome

Chromosomal Location

66264778-66315182 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 66272262 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 640 (P640L)

Ref Sequence

ENSEMBL: ENSMUSP00000022618 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022618]

AlphaFold

Q60718

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022618
AA Change: P640L

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000022618
Gene: ENSMUSG00000022039
AA Change: P640L

Domain	Start	End	E-Value	Type
Pfam:Pep_M12B_propep	17	147	2.1e-26	PFAM
Pfam:Reprolysin	184	381	7.1e-73	PFAM
DISIN	398	474	1.21e-27	SMART
ACR	475	612	6.96e-62	SMART
transmembrane domain	687	709	N/A	INTRINSIC
low complexity region	721	733	N/A	INTRINSIC

Coding Region Coverage

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 predominantly expressed in the epididymis, where the encoded preproprotein undergoes proteolytic processing to generate a mature, functional protein. Male mice lacking the encoded protein are infertile and exhibit multiple defects in reproduction. [provided by RefSeq, May 2016]
PHENOTYPE: Mice homozygous for targeted mutations that inactivate the gene are viable, females are fertile, but males have severely reduced fertility. Mutant male sperm are defective in sperm-egg membrane adhesion, sperm-egg fusion, migration from the uterus to theoviduct, and binding to the egg zona pellucida. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aaas	A	G	15: 102,258,430 (GRCm39)	I29T	probably damaging	Het
Ccl4	T	C	11: 83,553,504 (GRCm39)	S6P	unknown	Het
Cd300lf	T	A	11: 115,015,117 (GRCm39)	T151S	possibly damaging	Het
Elk4	A	G	1: 131,945,778 (GRCm39)	T219A	probably benign	Het
Eml1	G	T	12: 108,501,201 (GRCm39)	E680D	probably benign	Het
Gm9755	T	C	8: 67,967,035 (GRCm39)		noncoding transcript	Het
Hmcn1	A	T	1: 150,619,418 (GRCm39)	I1232N	possibly damaging	Het
Maml2	T	C	9: 13,531,295 (GRCm39)	S170P	probably damaging	Het
Mettl16	T	A	11: 74,708,529 (GRCm39)	M536K	probably damaging	Het
Nelfcd	G	A	2: 174,268,625 (GRCm39)	A559T	possibly damaging	Het
Nxf2	T	C	X: 133,856,281 (GRCm39)	I287V	probably benign	Het
Nyap2	A	G	1: 81,065,039 (GRCm39)	D17G	probably damaging	Het
Pde6b	T	C	5: 108,567,432 (GRCm39)	C270R	probably damaging	Het
Ptchd1	T	C	X: 154,356,955 (GRCm39)	D750G	probably damaging	Het
Rrn3	G	A	16: 13,626,875 (GRCm39)	E490K	possibly damaging	Het
Slc27a2	G	A	2: 126,428,172 (GRCm39)	G519D	possibly damaging	Het
Sox5	A	G	6: 143,853,223 (GRCm39)	S352P	probably damaging	Het
Spart	G	T	3: 55,035,912 (GRCm39)		probably benign	Het
Sult1e1	T	C	5: 87,737,947 (GRCm39)	T45A	possibly damaging	Het
Tat	G	A	8: 110,721,818 (GRCm39)	V242I	probably benign	Het
Zfp442	A	G	2: 150,251,714 (GRCm39)		probably benign	Het

Other mutations in Adam2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00425:Adam2	APN	14	66,311,498 (GRCm39)	critical splice donor site	probably null
IGL00980:Adam2	APN	14	66,293,977 (GRCm39)	nonsense	probably null
IGL01404:Adam2	APN	14	66,314,659 (GRCm39)	critical splice donor site	probably null
IGL01901:Adam2	APN	14	66,272,678 (GRCm39)	splice site	probably benign
IGL02687:Adam2	APN	14	66,306,639 (GRCm39)	missense	probably damaging	1.00
IGL02692:Adam2	APN	14	66,311,536 (GRCm39)	missense	probably damaging	1.00
IGL02695:Adam2	APN	14	66,287,929 (GRCm39)	missense	probably benign	0.01
IGL02798:Adam2	APN	14	66,277,724 (GRCm39)	missense	probably damaging	1.00
IGL03256:Adam2	APN	14	66,291,280 (GRCm39)	missense	probably benign	0.03
aldrin	UTSW	14	66,295,086 (GRCm39)	missense	probably damaging	1.00
armstrong	UTSW	14	66,275,006 (GRCm39)	missense	possibly damaging	0.95
sacher	UTSW	14	66,306,007 (GRCm39)	missense	probably damaging	1.00
zuker	UTSW	14	66,297,361 (GRCm39)	missense	probably benign	0.14
R0092:Adam2	UTSW	14	66,291,336 (GRCm39)	missense	probably damaging	1.00
R0281:Adam2	UTSW	14	66,275,055 (GRCm39)	missense	probably benign	0.20
R0636:Adam2	UTSW	14	66,272,265 (GRCm39)	missense	probably benign	0.03
R0690:Adam2	UTSW	14	66,295,095 (GRCm39)	missense	probably damaging	1.00
R0727:Adam2	UTSW	14	66,267,180 (GRCm39)	missense	probably damaging	1.00
R1477:Adam2	UTSW	14	66,315,149 (GRCm39)	missense	possibly damaging	0.96
R1634:Adam2	UTSW	14	66,295,180 (GRCm39)	missense	probably damaging	1.00
R1652:Adam2	UTSW	14	66,314,700 (GRCm39)	missense	probably benign	0.41
R1717:Adam2	UTSW	14	66,306,007 (GRCm39)	missense	probably damaging	1.00
R1868:Adam2	UTSW	14	66,315,107 (GRCm39)	missense	probably damaging	0.99
R1915:Adam2	UTSW	14	66,275,006 (GRCm39)	missense	possibly damaging	0.95
R3748:Adam2	UTSW	14	66,297,361 (GRCm39)	missense	probably benign	0.14
R3953:Adam2	UTSW	14	66,295,059 (GRCm39)	missense	probably damaging	1.00
R3954:Adam2	UTSW	14	66,295,059 (GRCm39)	missense	probably damaging	1.00
R3955:Adam2	UTSW	14	66,295,059 (GRCm39)	missense	probably damaging	1.00
R3956:Adam2	UTSW	14	66,295,059 (GRCm39)	missense	probably damaging	1.00
R3957:Adam2	UTSW	14	66,295,059 (GRCm39)	missense	probably damaging	1.00
R4091:Adam2	UTSW	14	66,267,172 (GRCm39)	missense	probably damaging	0.97
R5673:Adam2	UTSW	14	66,306,681 (GRCm39)	missense	probably benign	0.03
R5761:Adam2	UTSW	14	66,283,595 (GRCm39)	missense	probably damaging	1.00
R6187:Adam2	UTSW	14	66,306,068 (GRCm39)	missense	possibly damaging	0.89
R6499:Adam2	UTSW	14	66,296,239 (GRCm39)	missense	probably damaging	1.00
R6730:Adam2	UTSW	14	66,275,025 (GRCm39)	missense	possibly damaging	0.83
R6829:Adam2	UTSW	14	66,265,446 (GRCm39)	critical splice donor site	probably null
R7023:Adam2	UTSW	14	66,280,505 (GRCm39)	missense	probably benign	0.22
R7168:Adam2	UTSW	14	66,296,241 (GRCm39)	missense	possibly damaging	0.89
R7228:Adam2	UTSW	14	66,291,361 (GRCm39)	nonsense	probably null
R7293:Adam2	UTSW	14	66,272,634 (GRCm39)	missense	probably benign	0.29
R7604:Adam2	UTSW	14	66,293,990 (GRCm39)	missense	probably benign	0.17
R7765:Adam2	UTSW	14	66,297,345 (GRCm39)	missense	probably damaging	1.00
R8380:Adam2	UTSW	14	66,275,006 (GRCm39)	missense	probably benign	0.01
R8532:Adam2	UTSW	14	66,293,970 (GRCm39)	missense	probably damaging	1.00
R8728:Adam2	UTSW	14	66,295,086 (GRCm39)	missense	probably damaging	1.00
R8744:Adam2	UTSW	14	66,272,165 (GRCm39)	critical splice donor site	probably null
R9282:Adam2	UTSW	14	66,267,238 (GRCm39)	missense	probably benign	0.00
R9307:Adam2	UTSW	14	66,287,921 (GRCm39)	missense	probably damaging	1.00
R9560:Adam2	UTSW	14	66,275,102 (GRCm39)	missense	probably benign	0.12
R9574:Adam2	UTSW	14	66,275,071 (GRCm39)	missense	probably benign	0.10
R9608:Adam2	UTSW	14	66,291,279 (GRCm39)	missense	probably null	0.05
X0061:Adam2	UTSW	14	66,291,354 (GRCm39)	missense	possibly damaging	0.66
Z1177:Adam2	UTSW	14	66,293,970 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02