Incidental Mutation 'R5736:Crisp4'
| ID |
451685 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Crisp4
|
| Ensembl Gene |
ENSMUSG00000025774 |
| Gene Name |
cysteine-rich secretory protein 4 |
| Synonyms |
9230112K08Rik |
| MMRRC Submission |
043194-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5736 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
18185415-18216126 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 18185939 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 266
(T266A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111001
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026876]
[ENSMUST00000115340]
[ENSMUST00000115344]
|
| AlphaFold |
E9PVG4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026876
AA Change: T227A
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000026876
Gene: ENSMUSG00000025774
AA Change: T227A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
24 |
N/A |
INTRINSIC |
|
SCP
|
44 |
188 |
1.32e-45 |
SMART |
|
Pfam:Crisp
|
200 |
254 |
4.8e-25 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115340
AA Change: T223A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000110997
Gene: ENSMUSG00000025774
AA Change: T223A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
SCP
|
40 |
184 |
1.32e-45 |
SMART |
|
Pfam:Crisp
|
196 |
250 |
6.2e-25 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115344
AA Change: T266A
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000111001
Gene: ENSMUSG00000025774
AA Change: T266A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
39 |
61 |
N/A |
INTRINSIC |
|
SCP
|
83 |
227 |
1.32e-45 |
SMART |
|
Pfam:Crisp
|
239 |
293 |
1.6e-23 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130669
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.5%
- 20x: 93.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Fertilization consists of a sequence of specific cell-cell interactions culminating in the fusion of the sperm and egg plasma membranes. Recognition, binding, and fusion occur through the interaction of complementary molecules that are localized to specific domains of the sperm and egg plasma membranes. In the sperm, the postacrosomal region or equatorial segment is involved in sperm-egg plasma membrane fusion. The protein encoded by this gene is a member of the cysteine-rich secretory protein (CRISP) family. It is expressed in the epididymis, is secreted into the epididymal lumen, and binds to the postacrosomal region of the sperm head, where it plays a role in sperm-egg fusion. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]
PHENOTYPE: Mice homozygous for a null mutation display an impaired acrosome reaction in response to progesterone but are fertile with normal testis morphology and weight. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630095N17Rik |
G |
A |
1: 75,197,211 (GRCm39) |
|
probably benign |
Het |
| Akt1 |
G |
A |
12: 112,623,284 (GRCm39) |
R367C |
probably benign |
Het |
| Arl8a |
T |
A |
1: 135,082,458 (GRCm39) |
S150T |
probably benign |
Het |
| B020004C17Rik |
A |
T |
14: 57,254,823 (GRCm39) |
T216S |
possibly damaging |
Het |
| Casz1 |
G |
A |
4: 149,013,867 (GRCm39) |
V144I |
probably benign |
Het |
| Cd274 |
G |
T |
19: 29,359,940 (GRCm39) |
L248F |
probably benign |
Het |
| Dlx6 |
A |
T |
6: 6,863,660 (GRCm39) |
H94L |
probably damaging |
Het |
| Exoc1 |
A |
G |
5: 76,685,615 (GRCm39) |
N109S |
possibly damaging |
Het |
| Grik2 |
T |
C |
10: 49,280,506 (GRCm39) |
E128G |
probably damaging |
Het |
| Hs3st4 |
G |
A |
7: 123,996,662 (GRCm39) |
E443K |
probably damaging |
Het |
| Ihh |
T |
C |
1: 74,985,286 (GRCm39) |
T400A |
probably benign |
Het |
| Lamb1 |
T |
A |
12: 31,352,664 (GRCm39) |
C806* |
probably null |
Het |
| Lrrn1 |
T |
C |
6: 107,544,345 (GRCm39) |
S48P |
probably damaging |
Het |
| Lsm11 |
T |
C |
11: 45,835,594 (GRCm39) |
N49S |
possibly damaging |
Het |
| Map3k11 |
C |
T |
19: 5,746,739 (GRCm39) |
A507V |
probably damaging |
Het |
| Mill2 |
A |
T |
7: 18,592,174 (GRCm39) |
Q265L |
probably benign |
Het |
| Odad2 |
T |
C |
18: 7,268,416 (GRCm39) |
T368A |
probably benign |
Het |
| Or4s2b |
T |
C |
2: 88,508,985 (GRCm39) |
M255T |
probably benign |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Peg10 |
T |
A |
6: 4,754,423 (GRCm39) |
L68Q |
probably benign |
Het |
| Phka2 |
ACC |
AC |
X: 159,342,862 (GRCm39) |
|
probably null |
Het |
| Prkag2 |
A |
T |
5: 25,083,720 (GRCm39) |
Y88N |
probably damaging |
Het |
| Prmt5 |
A |
C |
14: 54,752,297 (GRCm39) |
D166E |
probably null |
Het |
| Robo4 |
A |
T |
9: 37,316,093 (GRCm39) |
T366S |
possibly damaging |
Het |
| Samd3 |
T |
C |
10: 26,146,070 (GRCm39) |
I365T |
probably damaging |
Het |
| Sdf2l1 |
A |
T |
16: 16,949,571 (GRCm39) |
C92S |
probably damaging |
Het |
| Serpinb6e |
A |
G |
13: 34,016,753 (GRCm39) |
F327L |
probably damaging |
Het |
| Slc17a6 |
G |
A |
7: 51,294,841 (GRCm39) |
V183I |
possibly damaging |
Het |
| Slc6a11 |
T |
C |
6: 114,139,123 (GRCm39) |
S244P |
probably damaging |
Het |
| Slc6a5 |
A |
G |
7: 49,609,102 (GRCm39) |
D769G |
probably benign |
Het |
| Slc7a14 |
A |
T |
3: 31,278,059 (GRCm39) |
D515E |
probably benign |
Het |
| Slco2a1 |
A |
T |
9: 102,945,029 (GRCm39) |
S135C |
probably benign |
Het |
| Spidr |
A |
T |
16: 15,715,162 (GRCm39) |
D801E |
probably damaging |
Het |
| Spta1 |
T |
C |
1: 174,041,821 (GRCm39) |
|
probably null |
Het |
| Tmem71 |
C |
T |
15: 66,404,496 (GRCm39) |
V264I |
probably benign |
Het |
| Zfp563 |
G |
T |
17: 33,323,960 (GRCm39) |
R185L |
possibly damaging |
Het |
| Zfp941 |
G |
A |
7: 140,392,973 (GRCm39) |
P129S |
probably benign |
Het |
|
| Other mutations in Crisp4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00974:Crisp4
|
APN |
1 |
18,198,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01071:Crisp4
|
APN |
1 |
18,207,231 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL01641:Crisp4
|
APN |
1 |
18,194,514 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL01670:Crisp4
|
APN |
1 |
18,198,901 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01985:Crisp4
|
APN |
1 |
18,204,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02043:Crisp4
|
APN |
1 |
18,204,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1241:Crisp4
|
UTSW |
1 |
18,193,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1978:Crisp4
|
UTSW |
1 |
18,198,889 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5269:Crisp4
|
UTSW |
1 |
18,198,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6154:Crisp4
|
UTSW |
1 |
18,193,012 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6999:Crisp4
|
UTSW |
1 |
18,207,259 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R7255:Crisp4
|
UTSW |
1 |
18,200,455 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7446:Crisp4
|
UTSW |
1 |
18,192,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7800:Crisp4
|
UTSW |
1 |
18,198,973 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7831:Crisp4
|
UTSW |
1 |
18,199,013 (GRCm39) |
missense |
probably benign |
0.29 |
|
R7881:Crisp4
|
UTSW |
1 |
18,198,893 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8053:Crisp4
|
UTSW |
1 |
18,194,498 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8881:Crisp4
|
UTSW |
1 |
18,185,902 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8885:Crisp4
|
UTSW |
1 |
18,207,148 (GRCm39) |
intron |
probably benign |
|
|
R9188:Crisp4
|
UTSW |
1 |
18,192,990 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCTTTGTTATTACATGCACTGGGC -3'
(R):5'- GGGATCTGATTCAACATGTCAATTG -3'
Sequencing Primer
(F):5'- CTGGGCACAGAATTGATGA -3'
(R):5'- CTGATTCAACATGTCAATTGTTTTGC -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation