Incidental Mutation 'R5269:Crisp4'
ID 400017
Institutional Source Beutler Lab
Gene Symbol Crisp4
Ensembl Gene ENSMUSG00000025774
Gene Name cysteine-rich secretory protein 4
Synonyms 9230112K08Rik
MMRRC Submission 042834-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5269 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 18185415-18216126 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 18198934 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 124 (S124P)
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: S128P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000026876
Gene: ENSMUSG00000025774
AA Change: S128P

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: S124P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000110997
Gene: ENSMUSG00000025774
AA Change: S124P

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: S167P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000111001
Gene: ENSMUSG00000025774
AA Change: S167P

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
Meta Mutation Damage Score 0.1926 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.9%
Validation Efficiency 100% (71/71)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T C 17: 24,595,717 (GRCm39) S357P possibly damaging Het
Adam39 A G 8: 41,279,018 (GRCm39) I470V probably benign Het
Agrn A T 4: 156,253,447 (GRCm39) C1708S probably benign Het
Agtpbp1 A G 13: 59,621,557 (GRCm39) I42T probably damaging Het
Akap6 T C 12: 53,186,626 (GRCm39) C1347R probably damaging Het
Antxr1 A G 6: 87,157,165 (GRCm39) L452P probably damaging Het
Arhgef33 T A 17: 80,677,704 (GRCm39) V417D probably damaging Het
Brca2 A G 5: 150,462,688 (GRCm39) I817M possibly damaging Het
Casp4 A T 9: 5,321,521 (GRCm39) probably benign Het
Cdh20 T C 1: 104,861,882 (GRCm39) Y21H possibly damaging Het
Cdr2 C T 7: 120,557,557 (GRCm39) V323M possibly damaging Het
Cebpa G A 7: 34,819,283 (GRCm39) R147H probably benign Het
Cetn4 C A 3: 37,364,118 (GRCm39) E31* probably null Het
Cobll1 G A 2: 64,964,115 (GRCm39) Q189* probably null Het
Colec12 A G 18: 9,846,825 (GRCm39) T74A possibly damaging Het
Eddm3b T A 14: 51,354,178 (GRCm39) D55E probably damaging Het
Elmo1 C A 13: 20,633,656 (GRCm39) N439K probably benign Het
Fabp12 T C 3: 10,315,167 (GRCm39) N60S probably benign Het
Fat2 T A 11: 55,178,704 (GRCm39) H1452L probably benign Het
Flacc1 A G 1: 58,730,919 (GRCm39) S46P possibly damaging Het
Flrt2 T C 12: 95,746,712 (GRCm39) V350A possibly damaging Het
Ganab T C 19: 8,889,301 (GRCm39) F626S probably damaging Het
Ghr T C 15: 3,349,561 (GRCm39) Y539C probably benign Het
Gm6871 T C 7: 41,197,525 (GRCm39) T112A probably damaging Het
Gm7133 T A 1: 97,110,848 (GRCm39) noncoding transcript Het
Gon4l A C 3: 88,802,835 (GRCm39) I1149L probably benign Het
Greb1l G A 18: 10,511,409 (GRCm39) D45N probably benign Het
H2-K2 A G 17: 34,215,989 (GRCm39) probably benign Het
Herc2 C T 7: 55,818,618 (GRCm39) R2770* probably null Het
Insyn2b G A 11: 34,352,788 (GRCm39) E277K probably damaging Het
Itsn2 A G 12: 4,683,553 (GRCm39) probably benign Het
Klb A G 5: 65,506,140 (GRCm39) D129G probably damaging Het
Klf1 A G 8: 85,629,969 (GRCm39) I265V probably benign Het
Ltbr G A 6: 125,289,757 (GRCm39) R146W probably damaging Het
Map3k10 T C 7: 27,357,957 (GRCm39) E607G probably benign Het
Melk C T 4: 44,363,730 (GRCm39) T592M probably damaging Het
Mroh6 A G 15: 75,757,639 (GRCm39) L457P probably damaging Het
Mrpl21 T A 19: 3,337,012 (GRCm39) C128S probably damaging Het
Or51f23 T C 7: 102,453,327 (GRCm39) V214A probably benign Het
Paqr4 G T 17: 23,957,187 (GRCm39) H105Q probably damaging Het
Pcdhga10 A G 18: 37,881,747 (GRCm39) I503V probably benign Het
Pds5a T C 5: 65,821,271 (GRCm39) N151S probably damaging Het
Pif1 A G 9: 65,499,111 (GRCm39) T444A possibly damaging Het
Ppp2r3d T C 9: 101,031,064 (GRCm39) R851G probably damaging Het
R3hdm4 C T 10: 79,748,292 (GRCm39) E162K possibly damaging Het
Ros1 T G 10: 51,927,104 (GRCm39) Q2172P probably damaging Het
Rpe65 A G 3: 159,309,984 (GRCm39) T86A probably benign Het
Rpl18a G A 8: 71,348,932 (GRCm39) R15C possibly damaging Het
Sh3tc2 A G 18: 62,108,684 (GRCm39) K258R probably benign Het
Ska3 T A 14: 58,059,573 (GRCm39) E84V possibly damaging Het
Slc25a40 T A 5: 8,497,409 (GRCm39) probably null Het
Slf1 A T 13: 77,252,700 (GRCm39) S274T probably benign Het
Spata21 A T 4: 140,830,332 (GRCm39) Q267H probably damaging Het
Strbp A T 2: 37,517,455 (GRCm39) W207R possibly damaging Het
Taf6l T C 19: 8,752,326 (GRCm39) E454G probably damaging Het
Tcam1 C A 11: 106,176,353 (GRCm39) L360I probably benign Het
Tnxb G A 17: 34,922,582 (GRCm39) R2465H possibly damaging Het
Trim66 T A 7: 109,056,797 (GRCm39) Y1120F probably benign Het
Trp53 T A 11: 69,480,031 (GRCm39) M243K probably damaging Het
Ttl T A 2: 128,910,831 (GRCm39) C72S probably damaging Het
Ttn A G 2: 76,539,240 (GRCm39) V34582A probably benign Het
Uqcrh T C 4: 115,927,101 (GRCm39) T31A possibly damaging Het
Usp40 A G 1: 87,923,504 (GRCm39) C256R probably benign Het
Vmn1r168 A G 7: 23,240,839 (GRCm39) E232G probably benign Het
Wdr72 A T 9: 74,064,653 (GRCm39) I562F probably damaging Het
Wnt4 A G 4: 137,005,061 (GRCm39) N24S 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
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
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
Predicted Primers PCR Primer
(F):5'- CTGGCCACAATCTAGGAAGTAG -3'
(R):5'- TTGCCAGACTTGAGCACAAC -3'

Sequencing Primer
(F):5'- GCCACAATCTAGGAAGTAGATGTTTG -3'
(R):5'- GAGCACAACATGATCATTCAGTG -3'
Posted On 2016-07-06