Incidental Mutation 'IGL02043:Crisp4'
ID 184838
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 # IGL02043
Quality Score
Status
Chromosome 1
Chromosomal Location 18185415-18216126 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 18204324 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 46 (V46A)
Ref Sequence ENSEMBL: ENSMUSP00000110997 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026876] [ENSMUST00000115340] [ENSMUST00000115344]
AlphaFold E9PVG4
Predicted Effect probably damaging
Transcript: ENSMUST00000026876
AA Change: V50A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000026876
Gene: ENSMUSG00000025774
AA Change: V50A

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 probably damaging
Transcript: ENSMUST00000115340
AA Change: V46A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000110997
Gene: ENSMUSG00000025774
AA Change: V46A

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 probably damaging
Transcript: ENSMUST00000115344
AA Change: V89A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000111001
Gene: ENSMUSG00000025774
AA Change: V89A

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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp1b2 T C 11: 69,496,102 (GRCm39) T33A probably benign Het
Brd2 A T 17: 34,331,590 (GRCm39) probably benign Het
Carmil1 T C 13: 24,208,299 (GRCm39) probably benign Het
Cdh9 A T 15: 16,856,318 (GRCm39) D786V probably damaging Het
Cep128 A C 12: 91,233,504 (GRCm39) probably benign Het
Cep85 T C 4: 133,883,038 (GRCm39) T284A probably benign Het
Chrna1 C T 2: 73,398,450 (GRCm39) E330K probably benign Het
Clec2l T C 6: 38,653,785 (GRCm39) Y104H probably damaging Het
Clybl G T 14: 122,616,664 (GRCm39) K226N probably damaging Het
Cmip T A 8: 118,172,067 (GRCm39) D467E probably benign Het
Cpne3 A T 4: 19,543,340 (GRCm39) probably null Het
Csnk2a1 T C 2: 152,116,070 (GRCm39) Y261H probably damaging Het
Cul5 C A 9: 53,569,973 (GRCm39) G86V probably benign Het
Czib T G 4: 107,752,065 (GRCm39) probably benign Het
Depdc7 T C 2: 104,560,626 (GRCm39) T123A probably benign Het
Edem2 T C 2: 155,547,661 (GRCm39) T384A probably damaging Het
F8 C T X: 74,376,247 (GRCm39) M377I probably benign Het
Fan1 T A 7: 64,021,367 (GRCm39) probably null Het
Fez2 T C 17: 78,689,051 (GRCm39) D366G probably damaging Het
Gm4841 A C 18: 60,404,037 (GRCm39) S19A probably benign Het
Gm4862 T A 3: 138,834,396 (GRCm39) noncoding transcript Het
Hk3 T A 13: 55,162,908 (GRCm39) Q44L probably damaging Het
Irgm1 C A 11: 48,757,642 (GRCm39) L56F probably damaging Het
Ldlr A G 9: 21,644,795 (GRCm39) T108A probably benign Het
Lgr4 T A 2: 109,841,635 (GRCm39) M516K probably damaging Het
Lrp1b T C 2: 40,587,537 (GRCm39) N3906S probably null Het
Lrrtm4 A G 6: 79,998,845 (GRCm39) N86D possibly damaging Het
Map3k2 A G 18: 32,340,587 (GRCm39) D198G probably damaging Het
Mapkapk3 C T 9: 107,139,621 (GRCm39) probably null Het
Mvp A T 7: 126,592,790 (GRCm39) Y374N probably damaging Het
Myo3a T C 2: 22,404,776 (GRCm39) S711P probably benign Het
Myom3 A G 4: 135,497,986 (GRCm39) K189E probably damaging Het
Naip1 T A 13: 100,563,304 (GRCm39) K620N probably benign Het
Nlrp10 T C 7: 108,524,709 (GRCm39) E257G probably damaging Het
Nptn T G 9: 58,548,012 (GRCm39) M139R possibly damaging Het
Nrk T G X: 137,889,544 (GRCm39) M1105R possibly damaging Het
Or10a3n A T 7: 108,493,046 (GRCm39) C189* probably null Het
Or10d4 T G 9: 39,580,374 (GRCm39) V7G probably damaging Het
Or1q1 T A 2: 36,887,477 (GRCm39) Y218* probably null Het
Pcdhb16 A G 18: 37,612,248 (GRCm39) T403A probably benign Het
Pcyt1b A G X: 92,745,722 (GRCm39) E50G possibly damaging Het
Pigg C T 5: 108,492,190 (GRCm39) T892I probably damaging Het
Ppig T G 2: 69,566,327 (GRCm39) probably null Het
Prr12 A G 7: 44,699,429 (GRCm39) probably benign Het
Slc5a5 G T 8: 71,345,073 (GRCm39) A78E possibly damaging Het
Slc7a2 T G 8: 41,364,095 (GRCm39) M436R probably benign Het
Sp7 T A 15: 102,267,690 (GRCm39) M39L probably benign Het
Spag8 T A 4: 43,653,134 (GRCm39) probably benign Het
Svep1 A G 4: 58,068,556 (GRCm39) S3077P probably benign Het
Tmem30a A T 9: 79,681,371 (GRCm39) probably benign Het
Tmem63a C T 1: 180,800,353 (GRCm39) T714I probably benign Het
Trank1 T C 9: 111,193,028 (GRCm39) L535P probably damaging Het
Tuba8 A C 6: 121,197,470 (GRCm39) N44T probably benign Het
Wnk1 A G 6: 119,926,039 (GRCm39) probably benign Het
Zfp654 A T 16: 64,605,391 (GRCm39) I396K 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
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
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 2014-05-07