Incidental Mutation 'IGL01641:Crisp4'
ID 93162
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Crisp4
Ensembl Gene ENSMUSG00000025774
Gene Name cysteine-rich secretory protein 4
Synonyms 9230112K08Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01641
Quality Score
Status
Chromosome 1
Chromosomal Location 18185415-18216126 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 18194514 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 160 (A160S)
Ref Sequence ENSEMBL: ENSMUSP00000110997 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026876] [ENSMUST00000115340] [ENSMUST00000115344]
AlphaFold E9PVG4
Predicted Effect possibly damaging
Transcript: ENSMUST00000026876
AA Change: A164S

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000026876
Gene: ENSMUSG00000025774
AA Change: A164S

DomainStartEndE-ValueType
transmembrane domain 7 24 N/A INTRINSIC
SCP 44 188 1.32e-45 SMART
Pfam:Crisp 200 254 4.8e-25 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000115340
AA Change: A160S

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000110997
Gene: ENSMUSG00000025774
AA Change: A160S

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
SCP 40 184 1.32e-45 SMART
Pfam:Crisp 196 250 6.2e-25 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000115344
AA Change: A203S

PolyPhen 2 Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000111001
Gene: ENSMUSG00000025774
AA Change: A203S

DomainStartEndE-ValueType
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
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: 15 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adora1 A G 1: 134,161,852 (GRCm39) L81P probably damaging Het
Agl C A 3: 116,578,104 (GRCm39) E537* probably null Het
Bpifb4 A G 2: 153,784,601 (GRCm39) Y103C possibly damaging Het
Cobl T A 11: 12,259,641 (GRCm39) K375* probably null Het
Foxs1 T C 2: 152,774,232 (GRCm39) T274A probably benign Het
Gm8220 A T 14: 44,525,628 (GRCm39) H14L probably benign Het
Irak3 T C 10: 120,012,252 (GRCm39) I171V probably benign Het
Itih2 A G 2: 10,115,250 (GRCm39) I374T probably benign Het
Or4c10b G A 2: 89,711,952 (GRCm39) A261T probably benign Het
Pcbp2 A G 15: 102,382,575 (GRCm39) S27G probably damaging Het
Pcbp3 T A 10: 76,603,691 (GRCm39) probably benign Het
Pik3c2a A T 7: 115,950,000 (GRCm39) probably benign Het
Prickle1 A T 15: 93,398,453 (GRCm39) F792I probably benign Het
Ube2u A G 4: 100,338,854 (GRCm39) I40V probably benign Het
Vmn2r1 A G 3: 64,011,924 (GRCm39) E595G probably benign Het
Other mutations in Crisp4
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R5736:Crisp4 UTSW 1 18,185,939 (GRCm39) missense probably benign 0.03
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
Posted On 2013-12-09