Incidental Mutation 'R0579:Acr'
ID |
56369 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Acr
|
Ensembl Gene |
ENSMUSG00000022622 |
Gene Name |
acrosin prepropeptide |
Synonyms |
preproacrosin |
MMRRC Submission |
038769-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.085)
|
Stock # |
R0579 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
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: 97.4%
- 20x: 94.7%
|
Validation Efficiency |
89% (34/38) |
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921517D22Rik |
GCC |
GC |
13: 59,839,412 (GRCm39) |
|
probably null |
Het |
Abcf3 |
G |
A |
16: 20,369,398 (GRCm39) |
R260Q |
probably benign |
Het |
Abcg3 |
A |
G |
5: 105,121,969 (GRCm39) |
V136A |
probably damaging |
Het |
Ambra1 |
A |
G |
2: 91,654,810 (GRCm39) |
N783S |
possibly damaging |
Het |
Cd300ld2 |
A |
G |
11: 114,903,125 (GRCm39) |
F240S |
probably benign |
Het |
Cep83 |
A |
G |
10: 94,584,915 (GRCm39) |
D340G |
possibly damaging |
Het |
Crybg2 |
T |
A |
4: 133,800,049 (GRCm39) |
I403N |
probably damaging |
Het |
Dnah14 |
T |
A |
1: 181,572,312 (GRCm39) |
M2881K |
possibly damaging |
Het |
Erbb4 |
T |
C |
1: 68,081,621 (GRCm39) |
M1138V |
probably benign |
Het |
Evi5 |
A |
G |
5: 107,969,575 (GRCm39) |
V112A |
probably benign |
Het |
F2r |
A |
G |
13: 95,754,857 (GRCm39) |
V9A |
probably benign |
Het |
Flot1 |
C |
A |
17: 36,141,900 (GRCm39) |
S337R |
probably benign |
Het |
Glt28d2 |
G |
A |
3: 85,779,440 (GRCm39) |
T11I |
probably damaging |
Het |
Gm19345 |
A |
G |
7: 19,588,901 (GRCm39) |
|
probably benign |
Het |
Gm6605 |
C |
A |
7: 38,147,699 (GRCm39) |
|
noncoding transcript |
Het |
Hmgcs2 |
A |
T |
3: 98,198,264 (GRCm39) |
I56F |
probably damaging |
Het |
Ifna9 |
T |
A |
4: 88,510,508 (GRCm39) |
T39S |
possibly damaging |
Het |
Il21 |
T |
G |
3: 37,281,923 (GRCm39) |
K74Q |
possibly damaging |
Het |
Itpripl1 |
G |
T |
2: 126,983,011 (GRCm39) |
Y370* |
probably null |
Het |
Kif24 |
G |
A |
4: 41,393,706 (GRCm39) |
P1056S |
probably damaging |
Het |
L2hgdh |
A |
T |
12: 69,748,046 (GRCm39) |
|
probably benign |
Het |
Lipo2 |
A |
T |
19: 33,724,298 (GRCm39) |
L156Q |
probably damaging |
Het |
Nlrp4c |
T |
A |
7: 6,063,844 (GRCm39) |
M84K |
probably benign |
Het |
Npy4r |
G |
A |
14: 33,868,640 (GRCm39) |
T216I |
probably benign |
Het |
Or12d17 |
T |
C |
17: 37,777,238 (GRCm39) |
V47A |
probably benign |
Het |
Or2h2c |
G |
C |
17: 37,422,347 (GRCm39) |
L176V |
probably benign |
Het |
Or6c1 |
A |
T |
10: 129,518,106 (GRCm39) |
C167* |
probably null |
Het |
Pafah1b2 |
T |
C |
9: 45,880,011 (GRCm39) |
E222G |
probably benign |
Het |
Pop1 |
T |
A |
15: 34,510,115 (GRCm39) |
D406E |
possibly damaging |
Het |
Proser1 |
A |
G |
3: 53,374,572 (GRCm39) |
Y32C |
probably damaging |
Het |
Ptprj |
C |
A |
2: 90,266,913 (GRCm39) |
|
probably null |
Het |
Slc1a3 |
T |
A |
15: 8,717,793 (GRCm39) |
I100F |
probably damaging |
Het |
Slc25a22 |
T |
C |
7: 141,011,272 (GRCm39) |
D176G |
probably damaging |
Het |
Stard7 |
T |
C |
2: 127,126,473 (GRCm39) |
V99A |
probably damaging |
Het |
Stk33 |
C |
T |
7: 108,924,904 (GRCm39) |
V184I |
probably damaging |
Het |
Timmdc1 |
A |
G |
16: 38,342,745 (GRCm39) |
L51P |
probably benign |
Het |
Tppp |
T |
C |
13: 74,169,352 (GRCm39) |
S31P |
probably benign |
Het |
Upf2 |
A |
T |
2: 5,993,240 (GRCm39) |
R599W |
unknown |
Het |
Vav1 |
G |
T |
17: 57,586,271 (GRCm39) |
W25L |
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 |
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 |
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 |