Mutagenetix > Incidental Mutation

Incidental Mutation 'R0042:Acr'

102572

Institutional Source

Beutler Lab

Gene Symbol

Acr

Ensembl Gene

ENSMUSG00000022622

Gene Name

acrosin prepropeptide

Synonyms

preproacrosin

MMRRC Submission

038336-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

R0042 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

89452549-89458790 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 89458535 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 405 (H405Q)

Ref Sequence

ENSEMBL: ENSMUSP00000023295 (fasta)

Gene Model

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

AlphaFold

P23578

Predicted Effect

probably benign
Transcript: ENSMUST00000023295
AA Change: H405Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000023295
Gene: ENSMUSG00000022622
AA Change: H405Q

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

probably benign
Transcript: ENSMUST00000230538

Predicted Effect

probably benign
Transcript: ENSMUST00000230978

Predicted Effect

probably benign
Transcript: ENSMUST00000231216

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.3%
20x: 94.8%

Validation Efficiency

100% (71/71)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	C	T	4: 53,059,245 (GRCm39)		probably benign	Het
Adad1	T	C	3: 37,137,322 (GRCm39)		probably benign	Het
Alox5ap	T	C	5: 149,216,069 (GRCm39)		probably benign	Het
Ank2	T	C	3: 126,730,280 (GRCm39)	D3568G	probably damaging	Het
Atl3	T	G	19: 7,506,388 (GRCm39)	I306S	probably damaging	Het
Atr	T	A	9: 95,809,409 (GRCm39)		probably benign	Het
Ccnb2	A	G	9: 70,326,335 (GRCm39)	V34A	probably benign	Het
Cdh12	A	C	15: 21,537,763 (GRCm39)		probably benign	Het
Cib1	C	T	7: 79,880,126 (GRCm39)	V45M	probably benign	Het
Col6a6	T	C	9: 105,657,896 (GRCm39)	E772G	possibly damaging	Het
Dmxl1	C	A	18: 49,997,102 (GRCm39)	T466K	probably benign	Het
Dym	T	C	18: 75,258,610 (GRCm39)		probably null	Het
Enpp3	A	C	10: 24,650,722 (GRCm39)	F805V	probably damaging	Het
Eya1	T	C	1: 14,254,713 (GRCm39)	D373G	probably damaging	Het
Gpr179	C	T	11: 97,225,757 (GRCm39)	V2133I	probably benign	Het
Grb10	G	T	11: 11,886,798 (GRCm39)	H435Q	probably damaging	Het
Gzmm	T	C	10: 79,530,399 (GRCm39)	I190T	probably benign	Het
Helt	T	C	8: 46,745,433 (GRCm39)	Y150C	probably damaging	Het
Hrg	A	T	16: 22,779,886 (GRCm39)		probably benign	Het
Il17ra	T	C	6: 120,449,086 (GRCm39)		probably benign	Het
Inhbc	A	G	10: 127,193,302 (GRCm39)	I238T	probably benign	Het
Itgb3	A	G	11: 104,557,966 (GRCm39)	T787A	possibly damaging	Het
Jakmip2	T	G	18: 43,685,210 (GRCm39)		probably benign	Het
Krt4	T	G	15: 101,831,187 (GRCm39)		probably benign	Het
Lgsn	C	T	1: 31,229,534 (GRCm39)	T85I	probably benign	Het
Metap1	C	T	3: 138,177,918 (GRCm39)	V217I	probably benign	Het
Mib2	A	T	4: 155,743,897 (GRCm39)	C48*	probably null	Het
Mroh4	T	A	15: 74,482,154 (GRCm39)	I768F	probably damaging	Het
Npas3	T	A	12: 54,095,624 (GRCm39)	D361E	probably damaging	Het
Obscn	A	G	11: 58,943,411 (GRCm39)	L4246P	probably damaging	Het
Or4a78	A	C	2: 89,497,798 (GRCm39)	V144G	probably benign	Het
Or7e169	A	G	9: 19,757,075 (GRCm39)	M280T	probably benign	Het
Or8h7	A	G	2: 86,720,835 (GRCm39)	I228T	probably damaging	Het
P4hb	G	A	11: 120,459,092 (GRCm39)	R134C	probably damaging	Het
Plcb3	T	C	19: 6,943,788 (GRCm39)	D71G	probably damaging	Het
Prex2	T	A	1: 11,150,305 (GRCm39)	V159E	probably damaging	Het
Prpsap1	T	A	11: 116,370,482 (GRCm39)	K158N	probably benign	Het
Prr35	C	A	17: 26,166,956 (GRCm39)	E194*	probably null	Het
Ptger1	G	T	8: 84,394,795 (GRCm39)	V91L	probably benign	Het
Rdh10	T	C	1: 16,178,260 (GRCm39)		probably benign	Het
Rgs9bp	C	A	7: 35,284,458 (GRCm39)	R63L	probably damaging	Het
Slc13a5	A	T	11: 72,149,940 (GRCm39)	V173E	probably benign	Het
Spata31	A	T	13: 65,070,377 (GRCm39)	I842L	probably benign	Het
Stk32b	A	C	5: 37,874,092 (GRCm39)	D13E	probably benign	Het
Svep1	T	C	4: 58,123,192 (GRCm39)	D708G	possibly damaging	Het
Taar6	T	C	10: 23,861,021 (GRCm39)	D175G	probably benign	Het
Thbs1	A	C	2: 117,953,358 (GRCm39)	D925A	probably damaging	Het
Tnr	A	T	1: 159,714,595 (GRCm39)	T825S	probably benign	Het
Ttc23l	A	C	15: 10,551,627 (GRCm39)	L33W	probably damaging	Het
Ttc39d	T	C	17: 80,523,379 (GRCm39)	Y13H	probably benign	Het
Vmn2r102	C	A	17: 19,880,851 (GRCm39)	P64Q	probably damaging	Het
Vps11	G	T	9: 44,267,588 (GRCm39)	Y341*	probably null	Het
Vsig8	T	C	1: 172,387,925 (GRCm39)	V5A	possibly damaging	Het
Vwce	C	T	19: 10,624,177 (GRCm39)	A356V	probably benign	Het

Other mutations in Acr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00553:Acr	APN	15	89,457,453 (GRCm39)	missense	probably benign	0.19
IGL00857:Acr	APN	15	89,454,205 (GRCm39)	missense	probably benign	0.00
IGL01353:Acr	APN	15	89,453,695 (GRCm39)	missense	probably damaging	1.00
IGL01466:Acr	APN	15	89,458,197 (GRCm39)	missense	probably benign
IGL01599:Acr	APN	15	89,452,617 (GRCm39)	missense	probably benign	0.01
IGL02408:Acr	APN	15	89,454,217 (GRCm39)	missense	probably damaging	1.00
R0398:Acr	UTSW	15	89,458,144 (GRCm39)	missense	probably damaging	1.00
R0520:Acr	UTSW	15	89,457,430 (GRCm39)	missense	probably damaging	1.00
R0578:Acr	UTSW	15	89,453,678 (GRCm39)	missense	probably damaging	1.00
R0579:Acr	UTSW	15	89,453,678 (GRCm39)	missense	probably damaging	1.00
R1167:Acr	UTSW	15	89,458,177 (GRCm39)	missense	probably damaging	1.00
R1792:Acr	UTSW	15	89,457,346 (GRCm39)	missense	probably benign	0.00
R2006:Acr	UTSW	15	89,458,404 (GRCm39)	missense	probably benign	0.00
R5531:Acr	UTSW	15	89,458,146 (GRCm39)	missense	probably damaging	1.00
R5577:Acr	UTSW	15	89,458,441 (GRCm39)	missense	probably benign	0.01
R7033:Acr	UTSW	15	89,453,703 (GRCm39)	missense	probably benign	0.03
R7206:Acr	UTSW	15	89,458,374 (GRCm39)	missense	probably benign
R7484:Acr	UTSW	15	89,457,427 (GRCm39)	missense	probably damaging	0.99
R7548:Acr	UTSW	15	89,458,596 (GRCm39)	missense	possibly damaging	0.72
R8001:Acr	UTSW	15	89,458,165 (GRCm39)	missense	probably damaging	1.00
R8325:Acr	UTSW	15	89,453,954 (GRCm39)	missense	probably benign	0.22
R8852:Acr	UTSW	15	89,458,057 (GRCm39)	missense	probably damaging	1.00
R8860:Acr	UTSW	15	89,458,057 (GRCm39)	missense	probably damaging	1.00
R9683:Acr	UTSW	15	89,457,440 (GRCm39)	nonsense	probably null
Z1177:Acr	UTSW	15	89,454,082 (GRCm39)	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- TGCACTTGATTCAGCCAGCCAC -3'
(R):5'- TCCATTTTATTGGAGCTGAGCAGGG -3'

Sequencing Primer
(F):5'- TTACCTGCGACCACTACGG -3'
(R):5'- GTTGAAGAAAACAGAAGTTCATGTCC -3'

Posted On

2014-01-15