Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01599:Acr'

92054

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 #

IGL01599

Quality Score

Status

Chromosome

Chromosomal Location

89568326-89574585 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 89568414 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 18 (V18A)

Ref Sequence

ENSEMBL: ENSMUSP00000023295 (fasta)

Gene Model

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

AlphaFold

P23578

Predicted Effect

probably benign
Transcript: ENSMUST00000023295
AA Change: V18A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000023295
Gene: ENSMUSG00000022622
AA Change: V18A

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: V12A

Predicted Effect

silent
Transcript: ENSMUST00000230978

Predicted Effect

unknown
Transcript: ENSMUST00000231216
AA Change: V17A

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr3	T	C	1: 90,214,134	V105A	probably benign	Het
Adgra2	G	A	8: 27,118,733	A540T	possibly damaging	Het
Aldh16a1	A	G	7: 45,142,093	F753L	probably damaging	Het
Ankfy1	T	A	11: 72,738,365	Y338N	probably benign	Het
Aox3	C	T	1: 58,169,794	R829C	probably damaging	Het
Arhgef11	T	C	3: 87,737,046	S1535P	probably benign	Het
C4b	A	G	17: 34,743,019		probably benign	Het
Ccdc157	A	G	11: 4,148,781	C242R	probably damaging	Het
Cep135	T	A	5: 76,593,347	M90K	possibly damaging	Het
Cfap36	A	T	11: 29,244,057		probably null	Het
Chl1	A	G	6: 103,708,484	T829A	probably benign	Het
Copb2	T	C	9: 98,581,150	S473P	probably damaging	Het
Cpb1	C	T	3: 20,251,954		probably null	Het
Cpsf1	A	G	15: 76,596,541	L1295P	probably damaging	Het
Dmp1	C	T	5: 104,212,462	Q335*	probably null	Het
Dyrk1a	T	A	16: 94,691,884	S621T	possibly damaging	Het
Exoc5	T	A	14: 49,034,964	Q331L	probably benign	Het
Fmnl1	G	A	11: 103,186,656	V287M	probably damaging	Het
Fras1	T	C	5: 96,709,891	S2015P	possibly damaging	Het
Gm7052	T	C	17: 22,040,004		probably benign	Het
Gprc5c	A	G	11: 114,864,252	I252V	probably benign	Het
Ints3	C	T	3: 90,394,322		probably null	Het
L1td1	A	G	4: 98,737,344	D592G	probably damaging	Het
Lamb3	A	G	1: 193,343,412	M1137V	probably benign	Het
Leng8	C	A	7: 4,145,482	A751E	probably benign	Het
Lfng	T	C	5: 140,612,535	V204A	probably damaging	Het
Lsm14b	A	G	2: 180,032,603	D233G	probably damaging	Het
Map4	C	T	9: 110,034,768	P354S	probably benign	Het
Mapt	G	A	11: 104,294,915	V53M	probably damaging	Het
Mier1	T	G	4: 103,155,541	S377A	possibly damaging	Het
Neurog1	T	C	13: 56,251,847	D29G	probably damaging	Het
Npr3	G	A	15: 11,895,789	A257V	probably damaging	Het
Nup188	T	C	2: 30,327,525	V824A	possibly damaging	Het
Olfm4	T	C	14: 80,021,310	S333P	probably damaging	Het
Olfr460	A	C	6: 40,572,252	I289L	probably damaging	Het
Olfr849	T	G	9: 19,441,815	F301V	probably benign	Het
Pbxip1	C	A	3: 89,443,590		probably benign	Het
Pde9a	G	T	17: 31,414,150	C38F	probably damaging	Het
Plb1	A	T	5: 32,342,544		probably benign	Het
Plcz1	T	C	6: 140,002,256		probably benign	Het
Plxnb1	T	C	9: 109,110,604	V1447A	probably damaging	Het
Pnldc1	A	T	17: 12,906,528	M73K	probably benign	Het
Psg20	C	T	7: 18,681,038	V311M	possibly damaging	Het
Psmd2	G	T	16: 20,659,405		probably null	Het
Rabgap1	T	C	2: 37,556,269	V859A	probably damaging	Het
Rad51b	T	A	12: 79,327,228	S194T	probably benign	Het
Rb1cc1	C	T	1: 6,248,771	Q788*	probably null	Het
Ror2	C	T	13: 53,111,617	G468R	probably damaging	Het
Slamf7	A	G	1: 171,641,186	I46T	possibly damaging	Het
Stab2	A	G	10: 86,922,895	S1060P	probably damaging	Het
Syndig1	T	A	2: 150,003,283	V242E	probably damaging	Het
Tgfbr3	G	A	5: 107,118,451	T801M	probably damaging	Het
Tmem132c	T	C	5: 127,359,552		probably benign	Het
Trav21-dv12	T	C	14: 53,876,731	Y103H	probably damaging	Het
Ubr3	T	C	2: 69,938,178	V443A	probably damaging	Het
Uhrf2	G	T	19: 30,092,120	C749F	probably damaging	Het
Ulk2	G	T	11: 61,791,436	S751*	probably null	Het
Wrn	G	A	8: 33,241,011	P1098S	possibly damaging	Het
Xrcc5	T	C	1: 72,346,349	V533A	possibly damaging	Het
Zc3h13	T	C	14: 75,309,723	S223P	probably damaging	Het
Zcchc11	T	C	4: 108,513,399	S871P	possibly damaging	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
IGL02408:Acr	APN	15	89570014	missense	probably damaging	1.00
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

2013-12-09