Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02408:Acr'

292197

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Acr

Ensembl Gene

ENSMUSG00000022622

Gene Name

acrosin prepropeptide

Synonyms

preproacrosin

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

IGL02408

Quality Score

Status

Chromosome

Chromosomal Location

89568326-89574585 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 89570014 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 185 (Y185N)

Ref Sequence

ENSEMBL: ENSMUSP00000023295 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023295]

AlphaFold

P23578

Predicted Effect

probably damaging
Transcript: ENSMUST00000023295
AA Change: Y185N

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

SMART Domains

Protein: ENSMUSP00000023295
Gene: ENSMUSG00000022622
AA Change: Y185N

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Tryp_SPc	42	286	6.84e-91	SMART
low complexity region	300	311	N/A	INTRINSIC
low complexity region	329	364	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000230538
AA Change: Y137N

Predicted Effect

unknown
Transcript: ENSMUST00000230978
AA Change: Y148N

Predicted Effect

probably benign
Transcript: ENSMUST00000231216

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Acrosin is the major proteinase present in the acrosome of mature spermatozoa. It is a typical serine proteinase with trypsin-like specificity. It is stored in the acrosome in its precursor form, proacrosin. The active enzyme functions in the lysis of the zona pellucida, thus facilitating penetration of the sperm through the innermost glycoprotein layers of the ovum. The mRNA for proacrosin is synthesized only in the postmeiotic stages of spermatogenesis. In humans proacrosin first appears in the haploid spermatids. [provided by RefSeq, Jul 2008]
PHENOTYPE: Males homozygous for a targeted null mutation produce sperm that shows delayed fertilization in vitro. Sperm from mutant gonial cells are ineffective at fertilization in competition with normal sperm both in vitro and in vivo. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	G	6: 121,644,171	Y278C	probably damaging	Het
Abcd2	A	G	15: 91,178,241	L498P	possibly damaging	Het
Acot11	A	G	4: 106,758,381	F271S	probably damaging	Het
Adcy10	C	T	1: 165,538,380	R489C	probably damaging	Het
Arsb	A	G	13: 93,794,162	T213A	probably benign	Het
Atg2a	T	A	19: 6,241,828	C11*	probably null	Het
B3galt6	A	T	4: 155,991,695	Y308N	probably damaging	Het
Cd226	A	G	18: 89,207,327	N116S	probably benign	Het
Crat	T	A	2: 30,407,134	D269V	probably damaging	Het
Crim1	T	A	17: 78,315,654	I427N	possibly damaging	Het
Dock3	T	C	9: 106,913,099		probably benign	Het
Dsg1c	T	A	18: 20,274,719	V374E	probably damaging	Het
Dtl	A	G	1: 191,541,240	S519P	probably benign	Het
Fastkd1	C	T	2: 69,702,601	R474H	probably benign	Het
Fbxo10	T	C	4: 45,058,361	T459A	possibly damaging	Het
Frmd4b	A	G	6: 97,295,809	L828P	probably damaging	Het
Gc	T	C	5: 89,445,396	S55G	probably benign	Het
Gm6455	T	G	5: 10,867,290		noncoding transcript	Het
Gnai2	T	C	9: 107,616,194	T280A	probably benign	Het
Hmgn2	A	G	4: 133,965,949		probably null	Het
Jmjd1c	G	T	10: 67,226,382	A1505S	probably benign	Het
Lrriq1	T	C	10: 103,146,281	K1393E	probably benign	Het
Mcam	A	G	9: 44,140,250	N469D	probably benign	Het
Mrpl47	A	G	3: 32,736,640		probably null	Het
Mslnl	C	T	17: 25,747,998	A659V	possibly damaging	Het
Nlrp1a	A	G	11: 71,122,630	V598A	probably benign	Het
Npff	A	T	15: 102,524,565	L15Q	probably null	Het
Obsl1	G	T	1: 75,505,246	Q327K	probably damaging	Het
Olfr46	T	C	7: 140,610,931	V255A	probably damaging	Het
Olfr48	T	A	2: 89,844,971	M1L	probably benign	Het
Olfr58	A	T	9: 19,783,415	Y94F	probably benign	Het
Olfr591	T	C	7: 103,173,451	Y62C	probably damaging	Het
Olfr914	G	A	9: 38,607,121	G219S	possibly damaging	Het
Pdzd2	T	A	15: 12,375,765	H1428L	probably benign	Het
Phldb1	T	C	9: 44,715,906	E414G	possibly damaging	Het
Reln	T	C	5: 21,901,619	D3251G	probably benign	Het
Secisbp2l	G	T	2: 125,740,869	S889*	probably null	Het
Setx	T	A	2: 29,133,930	C133S	probably damaging	Het
Slc22a29	A	C	19: 8,207,285	S214A	probably benign	Het
Slc30a5	A	C	13: 100,813,724	L285R	probably damaging	Het
Taar7a	T	G	10: 23,992,602	I294L	probably benign	Het
Tfap2b	T	A	1: 19,234,261	F414I	probably damaging	Het
Trpc4ap	A	T	2: 155,671,069	Y129N	possibly damaging	Het
Vmn2r94	T	C	17: 18,253,261	E501G	probably benign	Het
Xpot	T	C	10: 121,603,165	H709R	probably damaging	Het
Zfhx3	T	A	8: 108,955,372		probably benign	Het
Zscan22	T	G	7: 12,906,499	H223Q	probably benign	Het

Other mutations in Acr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00553:Acr	APN	15	89573250	missense	probably benign	0.19
IGL00857:Acr	APN	15	89570002	missense	probably benign	0.00
IGL01353:Acr	APN	15	89569492	missense	probably damaging	1.00
IGL01466:Acr	APN	15	89573994	missense	probably benign
IGL01599:Acr	APN	15	89568414	missense	probably benign	0.01
R0042:Acr	UTSW	15	89574332	missense	probably benign
R0398:Acr	UTSW	15	89573941	missense	probably damaging	1.00
R0520:Acr	UTSW	15	89573227	missense	probably damaging	1.00
R0578:Acr	UTSW	15	89569475	missense	probably damaging	1.00
R0579:Acr	UTSW	15	89569475	missense	probably damaging	1.00
R1167:Acr	UTSW	15	89573974	missense	probably damaging	1.00
R1792:Acr	UTSW	15	89573143	missense	probably benign	0.00
R2006:Acr	UTSW	15	89574201	missense	probably benign	0.00
R5531:Acr	UTSW	15	89573943	missense	probably damaging	1.00
R5577:Acr	UTSW	15	89574238	missense	probably benign	0.01
R7033:Acr	UTSW	15	89569500	missense	probably benign	0.03
R7206:Acr	UTSW	15	89574171	missense	probably benign
R7484:Acr	UTSW	15	89573224	missense	probably damaging	0.99
R7548:Acr	UTSW	15	89574393	missense	possibly damaging	0.72
R8001:Acr	UTSW	15	89573962	missense	probably damaging	1.00
R8325:Acr	UTSW	15	89569751	missense	probably benign	0.22
R8852:Acr	UTSW	15	89573854	missense	probably damaging	1.00
R8860:Acr	UTSW	15	89573854	missense	probably damaging	1.00
R9683:Acr	UTSW	15	89573237	nonsense	probably null
Z1177:Acr	UTSW	15	89569879	missense	possibly damaging	0.89

Posted On

2015-04-16