Mutagenetix > Incidental Mutations

Incidental Mutation 'R0098:Adam32'

16966

Institutional Source

Beutler Lab

Gene Symbol

Adam32

Ensembl Gene

ENSMUSG00000037437

Gene Name

a disintegrin and metallopeptidase domain 32

Synonyms

MMRRC Submission

038384-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0098 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

24836140-24948804 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 24914389 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 200 (Y200F)

Ref Sequence

ENSEMBL: ENSMUSP00000113627 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000119720] [ENSMUST00000121438]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000119720
AA Change: Y200F

PolyPhen 2 Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000113076
Gene: ENSMUSG00000037437
AA Change: Y200F

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:Pep_M12B_propep	32	145	4.5e-32	PFAM
Pfam:Reprolysin	187	384	4.1e-66	PFAM
Pfam:Reprolysin_3	211	318	6.2e-7	PFAM
DISIN	400	481	2.69e-16	SMART
ACR	482	622	6.83e-38	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000121438
AA Change: Y200F

PolyPhen 2 Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000113627
Gene: ENSMUSG00000037437
AA Change: Y200F

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:Pep_M12B_propep	24	145	8.4e-26	PFAM
Pfam:Reprolysin	187	384	1.3e-68	PFAM
DISIN	400	481	2.69e-16	SMART
ACR	482	622	6.83e-38	SMART
EGF	631	660	1.73e0	SMART
transmembrane domain	689	711	N/A	INTRINSIC
low complexity region	719	754	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000174059

SMART Domains

Protein: ENSMUSP00000134680
Gene: ENSMUSG00000037437

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:Pep_M12B_propep	19	141	4.6e-27	PFAM

Meta Mutation Damage Score

0.01

Coding Region Coverage

1x: 90.4%
3x: 88.1%
10x: 82.9%
20x: 75.6%

Validation Efficiency

93% (78/84)

MGI Phenotype

FUNCTION: This gene encodes a member of the disintegrin family of membrane-anchored proteins that play a role in diverse biological processes such as brain development, fertilization, tumor development and inflammation. The encoded protein undergoes proteolytic processing to generate a mature polypeptide comprised of an metalloprotease, disintegrin and epidermal growth factor-like domains. This gene was found to be expressed predominantly in the pachytene spermatocytes, where the processed protein is localized to the sperm surface. This gene is located in a cluster of other disintegrin and metallopeptidase family genes on chromosome 8. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar processing to generate mature protein. [provided by RefSeq, Sep 2015]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061I04Rik	A	T	17: 35,896,417		probably benign	Het
Acad9	T	C	3: 36,073,540	I97T	probably damaging	Het
Adcy4	T	C	14: 55,769,827	N976S	possibly damaging	Het
Adgrb2	C	G	4: 130,007,831	P416R	probably damaging	Het
Alpk2	A	G	18: 65,349,911	L342S	probably damaging	Het
Ambra1	T	A	2: 91,767,711	H72Q	possibly damaging	Het
Ankrd10	T	C	8: 11,612,560	H391R	probably benign	Het
Arfgef3	A	G	10: 18,589,642	V2151A	probably damaging	Het
Atm	T	C	9: 53,518,569	D389G	probably benign	Het
Atp10b	A	T	11: 43,189,604	S236C	probably benign	Het
B3gat1	C	T	9: 26,756,941	R276C	probably damaging	Het
Bcl9l	C	T	9: 44,505,617	P251S	probably benign	Het
Cdhr5	C	A	7: 141,269,868	G331W	probably damaging	Het
Cmklr1	T	C	5: 113,614,470	T157A	probably benign	Het
Cndp1	T	A	18: 84,628,824	E246D	probably damaging	Het
Cntn4	A	G	6: 106,618,424		probably benign	Het
Crebbp	A	G	16: 4,091,928	L1078P	probably damaging	Het
Cyp20a1	G	T	1: 60,387,254	E452*	probably null	Het
Emb	T	C	13: 117,267,498	V262A	probably damaging	Het
Ephb1	C	T	9: 102,041,140	R390H	probably damaging	Het
Faf1	T	C	4: 109,935,499	L556S	probably damaging	Het
Fat2	T	C	11: 55,298,605	T1196A	probably damaging	Het
Fbf1	A	T	11: 116,148,119		probably null	Het
Gid8	T	A	2: 180,714,735	I55N	possibly damaging	Het
Hexa	T	C	9: 59,558,100	Y213H	probably damaging	Het
Igf2bp1	T	C	11: 95,973,163	K234E	probably damaging	Het
Ighv1-58	C	T	12: 115,312,299	G73E	probably benign	Het
Kalrn	A	T	16: 33,975,619	I1262K	possibly damaging	Het
Lrp1	C	T	10: 127,552,738	V3281I	probably benign	Het
Lrp2	T	C	2: 69,475,412	D2935G	probably damaging	Het
Lypd6	T	A	2: 50,190,780	V160E	probably benign	Het
Muc19	C	T	15: 91,892,907		noncoding transcript	Het
Nrxn3	A	G	12: 89,260,201	D202G	probably damaging	Het
Nxn	A	T	11: 76,278,594		probably benign	Het
Olfr1461	T	A	19: 13,165,662	I216K	probably benign	Het
Palld	C	A	8: 61,525,086	G890V	probably damaging	Het
Pcx	C	A	19: 4,601,747		probably benign	Het
Pik3c2g	T	C	6: 139,662,443	S416P	unknown	Het
Ppa2	C	T	3: 133,370,473		probably benign	Het
Ppp1r18	A	G	17: 35,867,996	I254M	probably benign	Het
Prune2	A	G	19: 17,123,903	E2257G	possibly damaging	Het
Rd3	A	G	1: 191,985,300	M244V	probably benign	Het
Rfx5	T	A	3: 94,958,368	V326E	probably damaging	Het
Rgs3	G	C	4: 62,625,906	R305P	probably damaging	Het
Rpp40	A	G	13: 35,898,987	Y173H	probably benign	Het
Ryr3	T	C	2: 112,901,031	N645D	probably damaging	Het
Sema3e	T	C	5: 14,252,432	V657A	possibly damaging	Het
Serpina3n	T	A	12: 104,413,518	V390E	probably damaging	Het
Shank1	A	G	7: 44,313,285	Y141C	unknown	Het
Smg1	A	T	7: 118,145,467	M3154K	probably benign	Het
Tdrd12	A	G	7: 35,475,993	L996P	probably damaging	Het
Tfrc	G	T	16: 32,623,426	V490F	probably damaging	Het
Tie1	T	C	4: 118,486,587	S53G	probably benign	Het
Topaz1	T	C	9: 122,790,123	Y1262H	possibly damaging	Het
Ttc3	A	T	16: 94,390,265	H222L	probably benign	Het
Ubxn8	T	C	8: 33,635,365		probably benign	Het
Unk	A	G	11: 116,050,169	Y252C	probably damaging	Het
Vwc2l	A	G	1: 70,729,131	Y71C	probably damaging	Het
Zfp386	T	A	12: 116,059,214	L184*	probably null	Het

Other mutations in Adam32

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00775:Adam32	APN	8	24921354	missense	probably damaging	1.00
IGL00793:Adam32	APN	8	24837830	splice site	probably benign
IGL01317:Adam32	APN	8	24872581	missense	probably damaging	1.00
IGL01475:Adam32	APN	8	24872648	missense	probably damaging	1.00
IGL01501:Adam32	APN	8	24914353	missense	probably damaging	1.00
IGL01659:Adam32	APN	8	24870774	splice site	probably benign
IGL01994:Adam32	APN	8	24902796	splice site	probably benign
IGL02137:Adam32	APN	8	24872594	missense	probably damaging	1.00
IGL02393:Adam32	APN	8	24920053	missense	probably damaging	1.00
IGL02516:Adam32	APN	8	24898596	missense	probably damaging	1.00
IGL02892:Adam32	APN	8	24878711	intron	probably benign
IGL02929:Adam32	APN	8	24872643	missense	possibly damaging	0.81
IGL03273:Adam32	APN	8	24921340	missense	probably damaging	1.00
PIT4515001:Adam32	UTSW	8	24914326	missense	possibly damaging	0.88
R0088:Adam32	UTSW	8	24914067	missense	probably damaging	1.00
R0098:Adam32	UTSW	8	24914389	missense	possibly damaging	0.79
R0189:Adam32	UTSW	8	24922337	critical splice acceptor site	probably null
R1740:Adam32	UTSW	8	24921298	missense	probably damaging	1.00
R1853:Adam32	UTSW	8	24898626	missense	probably benign	0.02
R2090:Adam32	UTSW	8	24901440	critical splice donor site	probably null
R2906:Adam32	UTSW	8	24863504	missense	probably damaging	1.00
R2907:Adam32	UTSW	8	24863504	missense	probably damaging	1.00
R4304:Adam32	UTSW	8	24901529	missense	probably damaging	1.00
R4612:Adam32	UTSW	8	24872736	missense	probably damaging	1.00
R4673:Adam32	UTSW	8	24884455	missense	probably damaging	1.00
R4786:Adam32	UTSW	8	24863493	missense	probably damaging	1.00
R5292:Adam32	UTSW	8	24864451	missense	possibly damaging	0.85
R5398:Adam32	UTSW	8	24872579	missense	possibly damaging	0.95
R5524:Adam32	UTSW	8	24922312	missense	probably damaging	0.99
R5939:Adam32	UTSW	8	24914122	missense	probably damaging	1.00
R6350:Adam32	UTSW	8	24863429	missense	possibly damaging	0.86
R6766:Adam32	UTSW	8	24872630	missense	probably damaging	0.96
R6893:Adam32	UTSW	8	24878754	missense	probably damaging	1.00
R7095:Adam32	UTSW	8	24914070	missense	probably damaging	1.00
R7241:Adam32	UTSW	8	24898494	missense	probably benign	0.00
R7457:Adam32	UTSW	8	24884619	missense	probably damaging	0.98

Posted On

2013-01-20