Mutagenetix > Incidental Mutation

Incidental Mutation 'R7548:Acr'

584344

Institutional Source

Beutler Lab

Gene Symbol

Acr

Ensembl Gene

ENSMUSG00000022622

Gene Name

acrosin prepropeptide

Synonyms

preproacrosin

MMRRC Submission

045619-MU

Accession Numbers

Essential gene?

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

Stock #

R7548 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89452549-89458790 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 89458596 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 426 (S426P)

Ref Sequence

ENSEMBL: ENSMUSP00000023295 (fasta)

Gene Model

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

AlphaFold

P23578

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023295
AA Change: S426P

PolyPhen 2 Score 0.720 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000023295
Gene: ENSMUSG00000022622
AA Change: S426P

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930519G04Rik	G	A	5: 115,016,059 (GRCm39)	S146N	possibly damaging	Het
Arl6ip1	A	T	7: 117,725,733 (GRCm39)	I59N	probably damaging	Het
Atp2b4	A	T	1: 133,629,379 (GRCm39)	*81K	probably null	Het
Atp8a1	T	A	5: 67,973,071 (GRCm39)	R26*	probably null	Het
Atp8b4	T	A	2: 126,231,262 (GRCm39)	Q453L	probably benign	Het
B4galt4	A	G	16: 38,574,428 (GRCm39)	E134G	probably damaging	Het
Bcl9	G	A	3: 97,113,209 (GRCm39)	T1082I	probably damaging	Het
Catsperg2	A	G	7: 29,409,251 (GRCm39)	F617L	probably benign	Het
Ccdc15	T	C	9: 37,188,723 (GRCm39)	N800S	probably benign	Het
Cd300ld	T	C	11: 114,878,248 (GRCm39)	D88G	probably benign	Het
Ceacam2	A	T	7: 25,229,958 (GRCm39)	V216E	probably benign	Het
Cecr2	T	A	6: 120,738,675 (GRCm39)	M356K		Het
Cenpm	T	C	15: 82,128,880 (GRCm39)	M1V	probably null	Het
Ces2e	A	G	8: 105,658,538 (GRCm39)	E401G	probably benign	Het
Cib3	C	A	8: 72,961,041 (GRCm39)	L65F	probably damaging	Het
Clip4	C	G	17: 72,096,963 (GRCm39)	T29R	probably benign	Het
Cnot7	A	G	8: 40,953,874 (GRCm39)	I131T	probably damaging	Het
Cntn5	A	T	9: 9,673,415 (GRCm39)		probably null	Het
Col11a1	A	C	3: 113,917,409 (GRCm39)	H732P	unknown	Het
Coq4	A	T	2: 29,685,420 (GRCm39)	T145S	possibly damaging	Het
Cwf19l1	T	C	19: 44,098,989 (GRCm39)	D527G	probably benign	Het
Cyp3a25	T	C	5: 145,923,735 (GRCm39)	I303V	probably damaging	Het
Dab2	C	T	15: 6,459,399 (GRCm39)	T437I	possibly damaging	Het
Dlc1	A	G	8: 37,051,809 (GRCm39)	S190P	probably benign	Het
Dnah6	G	A	6: 73,004,423 (GRCm39)	L3847F	probably damaging	Het
Dnmbp	T	C	19: 43,877,838 (GRCm39)	E411G	probably benign	Het
Dpp8	T	C	9: 64,944,517 (GRCm39)	Y95H	probably damaging	Het
Emb	T	A	13: 117,408,590 (GRCm39)	D310E	possibly damaging	Het
Eml4	C	A	17: 83,732,766 (GRCm39)	Q140K	probably benign	Het
Epb41l3	T	C	17: 69,517,271 (GRCm39)	S100P	probably damaging	Het
Fat4	A	T	3: 39,035,263 (GRCm39)	T2972S	probably benign	Het
Fignl2	T	C	15: 100,951,079 (GRCm39)	E401G	unknown	Het
Fryl	T	A	5: 73,349,105 (GRCm39)	D19V	unknown	Het
Gck	C	T	11: 5,852,040 (GRCm39)	G16R		Het
Gm3371	T	C	14: 44,648,145 (GRCm39)	M1V	probably null	Het
Hlcs	T	A	16: 93,933,876 (GRCm39)	K661*	probably null	Het
Il17re	C	G	6: 113,443,348 (GRCm39)	P363A	probably damaging	Het
Kif24	C	T	4: 41,423,601 (GRCm39)	E217K	possibly damaging	Het
Klhdc7b	T	C	15: 89,272,907 (GRCm39)	I605T	probably damaging	Het
Krt31	T	C	11: 99,940,346 (GRCm39)	T170A	probably damaging	Het
Lgals3bp	T	C	11: 118,287,669 (GRCm39)	D126G	probably benign	Het
Lig1	T	A	7: 13,035,344 (GRCm39)	F601Y	possibly damaging	Het
Lrp6	A	G	6: 134,484,471 (GRCm39)	I384T	probably damaging	Het
Mfap5	A	T	6: 122,502,993 (GRCm39)	T102S	probably benign	Het
Mfsd6	A	G	1: 52,702,446 (GRCm39)	F600S	possibly damaging	Het
Nlrp4a	G	A	7: 26,149,604 (GRCm39)	E404K	probably damaging	Het
Nme3	T	C	17: 25,115,522 (GRCm39)	L12P	probably damaging	Het
Nxpe5	A	T	5: 138,249,493 (GRCm39)	T428S	probably benign	Het
Or1e26	G	A	11: 73,479,802 (GRCm39)	T254I	possibly damaging	Het
Or4c122	T	C	2: 89,079,430 (GRCm39)	T191A	probably benign	Het
Prr5	C	A	15: 84,641,259 (GRCm39)	P175Q	possibly damaging	Het
Psmc6	T	C	14: 45,572,375 (GRCm39)	Y110H	probably benign	Het
Pthlh	T	A	6: 147,158,653 (GRCm39)	R102S	possibly damaging	Het
Ric8b	G	T	10: 84,783,736 (GRCm39)	S198I	probably damaging	Het
Rrp7a	C	A	15: 83,001,871 (GRCm39)	R212S	possibly damaging	Het
Rubcnl	T	C	14: 75,279,792 (GRCm39)	Y392H	probably benign	Het
Sag	G	A	1: 87,772,638 (GRCm39)	V369I	probably benign	Het
Sar1b	A	G	11: 51,680,094 (GRCm39)	E140G	probably benign	Het
Sema3d	T	A	5: 12,627,783 (GRCm39)	M658K	unknown	Het
Skor2	C	T	18: 76,948,600 (GRCm39)	S774F	possibly damaging	Het
Slc1a6	G	T	10: 78,650,265 (GRCm39)	R501L	probably damaging	Het
Spata31d1b	A	G	13: 59,864,468 (GRCm39)	M539V	probably benign	Het
Spocd1	T	C	4: 129,823,602 (GRCm39)	L133P		Het
Sptlc1	A	T	13: 53,521,968 (GRCm39)	N96K	possibly damaging	Het
Stox1	A	T	10: 62,501,946 (GRCm39)	S205T	probably damaging	Het
Tec	T	C	5: 72,917,693 (GRCm39)	M509V	probably damaging	Het
Tmem161b	C	A	13: 84,370,537 (GRCm39)		probably benign	Het
Ttc34	T	A	4: 154,940,816 (GRCm39)	L499Q	probably damaging	Het
Uqcc1	A	G	2: 155,751,309 (GRCm39)	C120R	probably damaging	Het
Usp39	C	T	6: 72,321,996 (GRCm39)	S46N	possibly damaging	Het
Zbtb5	T	C	4: 44,994,724 (GRCm39)	E220G	probably benign	Het
Zfp287	A	T	11: 62,604,701 (GRCm39)	C735*	probably null	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
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
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'- TTTACCTGCGACCACTACGG -3'
(R):5'- TCCATTTTATTGGAGCTGAGCAGG -3'

Sequencing Primer
(F):5'- GGCCGTCTTCGACCCAAAC -3'
(R):5'- CTGAGCAGGGAGGATGTAAATTTG -3'

Posted On

2019-10-17