Mutagenetix > Incidental Mutation

Incidental Mutation 'R0578:Acr'

56331

Institutional Source

Beutler Lab

Gene Symbol

Acr

Ensembl Gene

ENSMUSG00000022622

Gene Name

acrosin prepropeptide

Synonyms

preproacrosin

MMRRC Submission

038768-MU

Accession Numbers

Essential gene?

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

Stock #

R0578 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

89452549-89458790 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 89453678 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 72 (H72Q)

Ref Sequence

ENSEMBL: ENSMUSP00000023295 (fasta)

Gene Model

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

AlphaFold

P23578

Predicted Effect

probably damaging
Transcript: ENSMUST00000023295
AA Change: H72Q

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

SMART Domains

Protein: ENSMUSP00000023295
Gene: ENSMUSG00000022622
AA Change: H72Q

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: H24Q

Predicted Effect

unknown
Transcript: ENSMUST00000230978
AA Change: H35Q

Predicted Effect

probably benign
Transcript: ENSMUST00000231216

Meta Mutation Damage Score

0.7403

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.5%
20x: 95.0%

Validation Efficiency

100% (53/53)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	A	G	15: 81,943,556 (GRCm39)	Y56C	possibly damaging	Het
Abca5	A	T	11: 110,167,315 (GRCm39)	C1500*	probably null	Het
Adam18	T	C	8: 25,131,863 (GRCm39)	D416G	possibly damaging	Het
Afap1l2	T	A	19: 56,904,214 (GRCm39)	Y691F	probably benign	Het
Akna	A	G	4: 63,289,147 (GRCm39)	S1259P	probably benign	Het
Atad2	G	A	15: 57,968,964 (GRCm39)	T525I	probably damaging	Het
Atp2a1	T	G	7: 126,049,315 (GRCm39)	M576L	probably benign	Het
B4galt6	T	C	18: 20,861,013 (GRCm39)		probably benign	Het
Best3	A	G	10: 116,844,904 (GRCm39)	D353G	probably benign	Het
Btg3	A	T	16: 78,161,834 (GRCm39)	D125E	probably benign	Het
Cabin1	A	T	10: 75,549,444 (GRCm39)	D1320E	probably damaging	Het
Cachd1	A	C	4: 100,852,039 (GRCm39)		probably benign	Het
Cad	T	C	5: 31,216,120 (GRCm39)	V151A	probably benign	Het
Capns1	A	T	7: 29,893,453 (GRCm39)		probably benign	Het
Catsperg2	T	A	7: 29,404,116 (GRCm39)	T860S	possibly damaging	Het
Ccdc61	T	C	7: 18,637,400 (GRCm39)	T76A	probably benign	Het
Cdipt	T	A	7: 126,578,702 (GRCm39)		probably null	Het
Cyp2d12	G	A	15: 82,440,584 (GRCm39)		probably benign	Het
Dennd4c	C	A	4: 86,730,659 (GRCm39)	P852Q	probably damaging	Het
Dsg2	G	A	18: 20,727,291 (GRCm39)	V613I	probably benign	Het
Dusp16	G	C	6: 134,695,284 (GRCm39)	L516V	probably damaging	Het
Eif2ak4	T	G	2: 118,305,472 (GRCm39)		probably benign	Het
Faf2	C	T	13: 54,769,658 (GRCm39)	A2V	possibly damaging	Het
Gas2l3	A	G	10: 89,252,937 (GRCm39)	I236T	probably damaging	Het
Gm6605	C	A	7: 38,147,699 (GRCm39)		noncoding transcript	Het
Got1	G	T	19: 43,504,222 (GRCm39)	S66R	probably benign	Het
Gpr149	T	A	3: 62,510,110 (GRCm39)	H335L	possibly damaging	Het
Hadhb	A	G	5: 30,383,804 (GRCm39)	I342M	probably benign	Het
Helz	T	A	11: 107,577,226 (GRCm39)	V1859D	unknown	Het
Htr1a	T	A	13: 105,581,595 (GRCm39)	N278K	probably damaging	Het
Inppl1	T	C	7: 101,480,795 (GRCm39)	E355G	probably damaging	Het
Isl2	A	G	9: 55,452,319 (GRCm39)	Y297C	probably damaging	Het
Kat7	T	C	11: 95,182,350 (GRCm39)	H250R	probably benign	Het
Klhl30	A	T	1: 91,282,074 (GRCm39)	D225V	probably benign	Het
Mtch2	T	C	2: 90,683,174 (GRCm39)		probably benign	Het
Muc4	C	A	16: 32,755,690 (GRCm38)		probably benign	Het
Ncoa7	A	C	10: 30,577,913 (GRCm39)		probably null	Het
Nuf2	T	A	1: 169,338,118 (GRCm39)		probably benign	Het
Or5ak24	T	C	2: 85,261,017 (GRCm39)	D52G	probably benign	Het
Or6c8	A	G	10: 128,915,062 (GRCm39)	Y257H	probably damaging	Het
Pced1a	T	A	2: 130,261,763 (GRCm39)	S297C	probably damaging	Het
Pi15	A	T	1: 17,673,073 (GRCm39)	K91*	probably null	Het
Pla2g4e	C	T	2: 120,075,162 (GRCm39)		probably benign	Het
Plce1	A	T	19: 38,766,383 (GRCm39)	H2136L	probably damaging	Het
Plec	A	G	15: 76,061,084 (GRCm39)	L2973P	probably damaging	Het
Poln	A	G	5: 34,171,682 (GRCm39)	I695T	probably damaging	Het
Pramel32	T	A	4: 88,552,376 (GRCm39)	I2F	probably benign	Het
R3hdm1	C	T	1: 128,159,174 (GRCm39)	Q950*	probably null	Het
Rxra	C	T	2: 27,649,582 (GRCm39)	A429V	probably damaging	Het
Scnn1a	G	A	6: 125,299,207 (GRCm39)	G96S	probably damaging	Het
Senp5	T	A	16: 31,808,163 (GRCm39)	T337S	possibly damaging	Het
Smg9	A	G	7: 24,114,468 (GRCm39)	D269G	probably damaging	Het
Srsf11	C	T	3: 157,717,704 (GRCm39)		probably benign	Het
Tmtc1	C	T	6: 148,256,716 (GRCm39)		probably benign	Het
Vmn2r19	T	C	6: 123,312,931 (GRCm39)	V667A	probably damaging	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
R0042:Acr	UTSW	15	89,458,535 (GRCm39)	missense	probably benign
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
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'- TTAGGCTGCCTCTCCTACCCTAAAG -3'
(R):5'- TTGTGCTCCGAAAACCAGTCTCC -3'

Sequencing Primer
(F):5'- GTACAAAGACTGGATGGCTCTTC -3'
(R):5'- GTCGGACTCATTCACAGACTG -3'

Posted On

2013-07-11