Mutagenetix > Incidental Mutation

Incidental Mutation 'R1915:Adam2'

214805

Institutional Source

Beutler Lab

Gene Symbol

Adam2

Ensembl Gene

ENSMUSG00000022039

Gene Name

a disintegrin and metallopeptidase domain 2

Synonyms

fertilin beta, Ph30-beta, Ftnb

MMRRC Submission

039933-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1915 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

66264778-66315182 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 66275006 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 576 (V576F)

Ref Sequence

ENSEMBL: ENSMUSP00000022618 (fasta)

Gene Model

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

AlphaFold

Q60718

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022618
AA Change: V576F

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000022618
Gene: ENSMUSG00000022039
AA Change: V576F

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.4%

Validation Efficiency

100% (85/85)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	C	11: 110,103,036 (GRCm39)	R852G	probably benign	Het
Afmid	T	C	11: 117,726,625 (GRCm39)	F250L	possibly damaging	Het
Apc2	A	T	10: 80,151,701 (GRCm39)	I2252L	probably benign	Het
Bcar1	A	G	8: 112,442,030 (GRCm39)	V270A	probably damaging	Het
Btnl7-ps	T	A	17: 34,760,619 (GRCm39)		noncoding transcript	Het
Cdkn2aip	T	C	8: 48,164,961 (GRCm39)	T251A	probably benign	Het
Cdx1	A	G	18: 61,152,970 (GRCm39)	V212A	probably benign	Het
Cep95	C	T	11: 106,705,464 (GRCm39)	T483I	probably damaging	Het
Cfap100	T	C	6: 90,389,329 (GRCm39)		probably benign	Het
Cfap54	A	G	10: 92,720,564 (GRCm39)	V2630A	unknown	Het
Chia1	T	A	3: 106,035,875 (GRCm39)	N238K	probably benign	Het
Cldn23	T	A	8: 36,293,099 (GRCm39)	I130F	possibly damaging	Het
Cntrl	T	C	2: 35,052,873 (GRCm39)	M1126T	probably benign	Het
Col28a1	A	G	6: 8,176,333 (GRCm39)	F8S	probably benign	Het
Cpeb3	C	T	19: 37,031,665 (GRCm39)	R579Q	probably damaging	Het
Creld2	G	A	15: 88,704,834 (GRCm39)	W103*	probably null	Het
Dbh	A	G	2: 27,058,234 (GRCm39)	D134G	probably damaging	Het
Dcbld1	G	T	10: 52,193,131 (GRCm39)	C292F	probably damaging	Het
Dlgap5	T	C	14: 47,645,230 (GRCm39)	K304E	probably benign	Het
Dnajc2	A	G	5: 21,986,317 (GRCm39)		probably null	Het
Eps8l2	G	A	7: 140,941,765 (GRCm39)	V650M	probably damaging	Het
Erlin1	T	C	19: 44,047,504 (GRCm39)	Y139C	probably damaging	Het
Exoc3	A	G	13: 74,321,413 (GRCm39)		probably null	Het
F5	C	A	1: 164,010,486 (GRCm39)	R406S	probably damaging	Het
Fahd1	A	T	17: 25,068,622 (GRCm39)	W152R	possibly damaging	Het
Farp2	T	A	1: 93,456,424 (GRCm39)	S36T	probably benign	Het
Foxs1	A	G	2: 152,774,760 (GRCm39)	C98R	probably damaging	Het
Gal3st4	T	A	5: 138,263,672 (GRCm39)	K442N	probably benign	Het
Gm10644	G	A	8: 84,660,479 (GRCm39)		probably benign	Het
Gm8674	A	T	13: 50,054,889 (GRCm39)		noncoding transcript	Het
Gpr88	G	T	3: 116,046,073 (GRCm39)	S79R	possibly damaging	Het
Heatr9	T	G	11: 83,409,035 (GRCm39)	I171L	possibly damaging	Het
Hectd4	A	G	5: 121,460,357 (GRCm39)	T2209A	probably benign	Het
Hsh2d	A	G	8: 72,947,365 (GRCm39)	T21A	probably damaging	Het
Irf4	A	T	13: 30,945,445 (GRCm39)	Q397L	probably benign	Het
Itgae	T	A	11: 73,009,469 (GRCm39)		probably benign	Het
Jrkl	A	T	9: 13,245,609 (GRCm39)	D17E	possibly damaging	Het
Kcna4	T	C	2: 107,127,123 (GRCm39)	V619A	probably benign	Het
Kcnh6	T	A	11: 105,908,270 (GRCm39)	Y295*	probably null	Het
Kif1b	G	A	4: 149,351,673 (GRCm39)	T263I	probably damaging	Het
Large2	G	T	2: 92,196,170 (GRCm39)		probably benign	Het
Lcp1	T	A	14: 75,436,737 (GRCm39)	Y28N	possibly damaging	Het
Man1c1	G	C	4: 134,430,749 (GRCm39)	P11R	probably damaging	Het
Mccc2	T	C	13: 100,085,038 (GRCm39)		probably null	Het
Mlh3	T	C	12: 85,308,442 (GRCm39)	Y1115C	probably benign	Het
Mlst8	C	T	17: 24,696,264 (GRCm39)	W155*	probably null	Het
Myh10	T	C	11: 68,681,034 (GRCm39)	L1025P	probably damaging	Het
Myof	T	A	19: 37,966,141 (GRCm39)	N393I	probably damaging	Het
Nalcn	C	T	14: 123,540,181 (GRCm39)	V1140I	probably benign	Het
Ncald	C	T	15: 37,397,324 (GRCm39)	A119T	probably benign	Het
Nipbl	T	C	15: 8,373,114 (GRCm39)	E1044G	possibly damaging	Het
Nup58	T	C	14: 60,475,980 (GRCm39)	K279R	probably benign	Het
Oas1a	A	T	5: 121,043,876 (GRCm39)	N85K	possibly damaging	Het
Or11g1	C	T	14: 50,651,798 (GRCm39)	P266S	probably damaging	Het
Or8b12i	T	C	9: 20,082,324 (GRCm39)	Y181C	probably benign	Het
Or8k30	A	G	2: 86,339,343 (GRCm39)	D180G	probably damaging	Het
Pou2f2	C	T	7: 24,799,581 (GRCm39)	A92T	possibly damaging	Het
Ppp1r16a	T	C	15: 76,577,268 (GRCm39)	L212P	probably damaging	Het
Pram1	A	T	17: 33,860,131 (GRCm39)	I233F	probably benign	Het
Ptbp3	A	T	4: 59,517,635 (GRCm39)	L84Q	probably damaging	Het
Ptgr2	A	T	12: 84,349,096 (GRCm39)	Q145L	probably benign	Het
Ptpn23	A	T	9: 110,215,575 (GRCm39)	D1396E	probably damaging	Het
Pudp	T	C	18: 50,701,278 (GRCm39)	N152D	probably benign	Het
Rbm20	T	A	19: 53,852,518 (GRCm39)	L1166Q	probably damaging	Het
Rictor	T	G	15: 6,789,053 (GRCm39)	I223R	probably damaging	Het
Ripor1	A	T	8: 106,343,518 (GRCm39)	E270D	probably damaging	Het
Rorc	T	C	3: 94,298,480 (GRCm39)	C322R	probably damaging	Het
Rpgrip1l	T	C	8: 91,959,552 (GRCm39)	D1116G	probably benign	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Sptan1	C	G	2: 29,901,048 (GRCm39)	Q1425E	probably benign	Het
Srd5a3	G	A	5: 76,295,552 (GRCm39)	V81I	probably benign	Het
Stk36	T	A	1: 74,673,346 (GRCm39)	S1080T	probably benign	Het
Sugp2	T	A	8: 70,706,310 (GRCm39)	I790K	probably damaging	Het
Syde2	T	G	3: 145,720,071 (GRCm39)	Y764*	probably null	Het
Tmem130	A	G	5: 144,674,666 (GRCm39)	F353S	probably damaging	Het
Tmem131	T	A	1: 36,835,347 (GRCm39)	K1591N	probably damaging	Het
Urb2	C	A	8: 124,756,537 (GRCm39)	T748K	possibly damaging	Het
Uri1	A	T	7: 37,661,103 (GRCm39)	I480K	probably damaging	Het
Zcchc3	A	C	2: 152,255,601 (GRCm39)	V366G	probably benign	Het
Zfp292	G	A	4: 34,805,100 (GRCm39)	S2648F	possibly damaging	Het
Zfp54	T	C	17: 21,654,414 (GRCm39)	Y303H	probably benign	Het
Zfp729b	A	G	13: 67,741,339 (GRCm39)	F319L	probably damaging	Het
Zfp934	G	A	13: 62,665,769 (GRCm39)	H291Y	probably damaging	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
IGL03217:Adam2	APN	14	66,272,262 (GRCm39)	missense	possibly damaging	0.85
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
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

Predicted Primers

PCR Primer
(F):5'- TCCAAACTTCTATGTGGGATTGC -3'
(R):5'- TGTGGTATCCAAAACTAACTGCG -3'

Sequencing Primer
(F):5'- GGGATTGCACACTTACATTTCGAGAG -3'
(R):5'- GGTATCCAAAACTAACTGCGTATATC -3'

Posted On

2014-07-14