Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02516:Adam32'

296761

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adam32

Ensembl Gene

ENSMUSG00000037437

Gene Name

a disintegrin and metallopeptidase domain 32

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02516

Quality Score

Status

Chromosome

Chromosomal Location

25326156-25438820 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 25388612 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 364 (S364N)

Ref Sequence

ENSEMBL: ENSMUSP00000113627 (fasta)

Gene Model

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

AlphaFold

Q8K410

Predicted Effect

probably damaging
Transcript: ENSMUST00000119720
AA Change: S364N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113076
Gene: ENSMUSG00000037437
AA Change: S364N

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

probably damaging
Transcript: ENSMUST00000121438
AA Change: S364N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113627
Gene: ENSMUSG00000037437
AA Change: S364N

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

Coding Region Coverage

Validation Efficiency

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano8	C	T	8: 71,937,721 (GRCm39)	G47D	probably damaging	Het
App	T	C	16: 84,752,305 (GRCm39)	T743A	probably damaging	Het
Armc3	A	G	2: 19,305,317 (GRCm39)	K692E	possibly damaging	Het
Arpp21	T	C	9: 112,014,729 (GRCm39)	N25S	probably damaging	Het
Avpr1b	G	A	1: 131,528,367 (GRCm39)	V297I	probably damaging	Het
Bpi	A	G	2: 158,109,651 (GRCm39)	I200V	possibly damaging	Het
Cacna2d4	C	T	6: 119,248,831 (GRCm39)		probably benign	Het
Cbarp	A	G	10: 79,971,379 (GRCm39)	Y149H	probably damaging	Het
Ccdc85c	T	C	12: 108,241,160 (GRCm39)	N78S	unknown	Het
Cdcp1	G	T	9: 123,002,702 (GRCm39)	L790M	possibly damaging	Het
Cdkn2d	T	A	9: 21,200,439 (GRCm39)	I111F	probably benign	Het
Ctsr	A	G	13: 61,310,992 (GRCm39)	V18A	probably benign	Het
Dapk1	A	G	13: 60,844,161 (GRCm39)	D60G	probably damaging	Het
Daw1	A	C	1: 83,186,949 (GRCm39)	N253T	probably benign	Het
Dcaf7	T	A	11: 105,942,698 (GRCm39)	I215N	probably damaging	Het
Ddc	A	C	11: 11,779,125 (GRCm39)	L333R	probably damaging	Het
Dennd1a	A	G	2: 37,742,406 (GRCm39)		probably null	Het
Dnah10	C	A	5: 124,864,395 (GRCm39)	T2200K	probably damaging	Het
Dock6	T	C	9: 21,713,881 (GRCm39)	Y1883C	probably damaging	Het
Ecpas	T	C	4: 58,877,102 (GRCm39)	E111G	probably damaging	Het
Eif2ak4	T	A	2: 118,266,735 (GRCm39)	I752N	probably damaging	Het
Fcho2	A	G	13: 98,866,720 (GRCm39)	I740T	probably benign	Het
Flnc	A	G	6: 29,450,840 (GRCm39)	D1496G	probably damaging	Het
Fn1	A	G	1: 71,676,482 (GRCm39)	V583A	possibly damaging	Het
Greb1l	A	C	18: 10,537,064 (GRCm39)	T1010P	probably benign	Het
Hs3st6	T	C	17: 24,977,105 (GRCm39)	L195P	probably damaging	Het
Hyi	A	G	4: 118,219,680 (GRCm39)	E239G	probably damaging	Het
Ighv2-3	G	T	12: 113,574,818 (GRCm39)	Y112*	probably null	Het
Ints3	A	G	3: 90,310,415 (GRCm39)	F495S	probably damaging	Het
Itih2	T	A	2: 10,102,728 (GRCm39)	H802L	probably benign	Het
Jag2	C	T	12: 112,874,186 (GRCm39)	V990M	probably damaging	Het
Kat6b	T	C	14: 21,659,936 (GRCm39)		probably benign	Het
Krtap4-8	C	T	11: 99,671,168 (GRCm39)		probably benign	Het
Lhx4	A	G	1: 155,578,003 (GRCm39)	S380P	probably damaging	Het
Morn3	C	A	5: 123,175,363 (GRCm39)	E33*	probably null	Het
Mug2	C	T	6: 122,047,802 (GRCm39)	A771V	probably damaging	Het
N4bp3	A	T	11: 51,535,161 (GRCm39)	S343T	probably benign	Het
Nlrp1a	T	C	11: 71,005,286 (GRCm39)	N643S	probably damaging	Het
Or2c1	A	C	16: 3,657,200 (GRCm39)	D121A	probably damaging	Het
Or2h1b	T	A	17: 37,462,163 (GRCm39)	R79S	possibly damaging	Het
Or6c8	T	A	10: 128,915,662 (GRCm39)	M57L	possibly damaging	Het
Phc3	A	G	3: 31,002,942 (GRCm39)	F192S	probably damaging	Het
Pigq	C	T	17: 26,156,221 (GRCm39)	R69H	probably benign	Het
Plk3	A	G	4: 116,989,186 (GRCm39)	C222R	probably damaging	Het
Pomt2	T	C	12: 87,166,420 (GRCm39)	T490A	probably benign	Het
Prss29	T	C	17: 25,539,875 (GRCm39)	I91T	probably damaging	Het
Ralgapb	A	T	2: 158,307,735 (GRCm39)		probably benign	Het
Sccpdh	G	A	1: 179,509,256 (GRCm39)	G75D	probably damaging	Het
Serpine2	T	C	1: 79,772,714 (GRCm39)		probably benign	Het
Sfr1	T	G	19: 47,721,429 (GRCm39)		probably null	Het
Slc22a23	C	A	13: 34,387,938 (GRCm39)	C386F	probably benign	Het
Slc22a27	T	C	19: 7,842,176 (GRCm39)	K433R	probably damaging	Het
Slc39a12	T	C	2: 14,405,146 (GRCm39)	L246P	probably damaging	Het
Slc4a11	A	G	2: 130,533,313 (GRCm39)	I191T	possibly damaging	Het
Slc9c1	A	G	16: 45,398,238 (GRCm39)	N668D	probably damaging	Het
Supt16	A	T	14: 52,421,421 (GRCm39)	D41E	possibly damaging	Het
Tamalin	G	A	15: 101,126,932 (GRCm39)	V137I	probably damaging	Het
Ugt2b37	A	G	5: 87,388,741 (GRCm39)	S491P	probably damaging	Het
Urb1	G	T	16: 90,569,583 (GRCm39)	T1381N	possibly damaging	Het
Usp8	A	G	2: 126,584,094 (GRCm39)	I423M	probably benign	Het
Vmn1r191	T	A	13: 22,363,710 (GRCm39)	I15F	probably benign	Het
Zbtb5	A	T	4: 44,993,798 (GRCm39)	Y529N	probably damaging	Het
Zfp541	T	A	7: 15,816,918 (GRCm39)		probably null	Het

Other mutations in Adam32

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00775:Adam32	APN	8	25,411,370 (GRCm39)	missense	probably damaging	1.00
IGL00793:Adam32	APN	8	25,327,846 (GRCm39)	splice site	probably benign
IGL01317:Adam32	APN	8	25,362,597 (GRCm39)	missense	probably damaging	1.00
IGL01475:Adam32	APN	8	25,362,664 (GRCm39)	missense	probably damaging	1.00
IGL01501:Adam32	APN	8	25,404,369 (GRCm39)	missense	probably damaging	1.00
IGL01659:Adam32	APN	8	25,360,790 (GRCm39)	splice site	probably benign
IGL01994:Adam32	APN	8	25,392,812 (GRCm39)	splice site	probably benign
IGL02137:Adam32	APN	8	25,362,610 (GRCm39)	missense	probably damaging	1.00
IGL02393:Adam32	APN	8	25,410,069 (GRCm39)	missense	probably damaging	1.00
IGL02892:Adam32	APN	8	25,368,727 (GRCm39)	intron	probably benign
IGL02929:Adam32	APN	8	25,362,659 (GRCm39)	missense	possibly damaging	0.81
IGL03273:Adam32	APN	8	25,411,356 (GRCm39)	missense	probably damaging	1.00
PIT4515001:Adam32	UTSW	8	25,404,342 (GRCm39)	missense	possibly damaging	0.88
R0088:Adam32	UTSW	8	25,404,083 (GRCm39)	missense	probably damaging	1.00
R0098:Adam32	UTSW	8	25,404,405 (GRCm39)	missense	possibly damaging	0.79
R0098:Adam32	UTSW	8	25,404,405 (GRCm39)	missense	possibly damaging	0.79
R0189:Adam32	UTSW	8	25,412,353 (GRCm39)	critical splice acceptor site	probably null
R1740:Adam32	UTSW	8	25,411,314 (GRCm39)	missense	probably damaging	1.00
R1853:Adam32	UTSW	8	25,388,642 (GRCm39)	missense	probably benign	0.02
R2090:Adam32	UTSW	8	25,391,456 (GRCm39)	critical splice donor site	probably null
R2906:Adam32	UTSW	8	25,353,520 (GRCm39)	missense	probably damaging	1.00
R2907:Adam32	UTSW	8	25,353,520 (GRCm39)	missense	probably damaging	1.00
R4304:Adam32	UTSW	8	25,391,545 (GRCm39)	missense	probably damaging	1.00
R4612:Adam32	UTSW	8	25,362,752 (GRCm39)	missense	probably damaging	1.00
R4673:Adam32	UTSW	8	25,374,471 (GRCm39)	missense	probably damaging	1.00
R4786:Adam32	UTSW	8	25,353,509 (GRCm39)	missense	probably damaging	1.00
R5292:Adam32	UTSW	8	25,354,467 (GRCm39)	missense	possibly damaging	0.85
R5398:Adam32	UTSW	8	25,362,595 (GRCm39)	missense	possibly damaging	0.95
R5524:Adam32	UTSW	8	25,412,328 (GRCm39)	missense	probably damaging	0.99
R5939:Adam32	UTSW	8	25,404,138 (GRCm39)	missense	probably damaging	1.00
R6350:Adam32	UTSW	8	25,353,445 (GRCm39)	missense	possibly damaging	0.86
R6766:Adam32	UTSW	8	25,362,646 (GRCm39)	missense	probably damaging	0.96
R6893:Adam32	UTSW	8	25,368,770 (GRCm39)	missense	probably damaging	1.00
R7095:Adam32	UTSW	8	25,404,086 (GRCm39)	missense	probably damaging	1.00
R7241:Adam32	UTSW	8	25,388,510 (GRCm39)	missense	probably benign	0.00
R7457:Adam32	UTSW	8	25,374,635 (GRCm39)	missense	probably damaging	0.98
R7864:Adam32	UTSW	8	25,412,292 (GRCm39)	missense	probably benign	0.11
R8083:Adam32	UTSW	8	25,362,752 (GRCm39)	missense	probably damaging	1.00
R8248:Adam32	UTSW	8	25,391,486 (GRCm39)	missense	possibly damaging	0.93
R8376:Adam32	UTSW	8	25,409,936 (GRCm39)	missense	possibly damaging	0.81
R8681:Adam32	UTSW	8	25,327,811 (GRCm39)	missense	unknown
R9154:Adam32	UTSW	8	25,438,769 (GRCm39)	small deletion	probably benign
R9391:Adam32	UTSW	8	25,374,472 (GRCm39)	missense	probably damaging	0.99
Z1176:Adam32	UTSW	8	25,438,766 (GRCm39)	nonsense	probably null

Posted On

2015-04-16