Incidental Mutation 'R8053:Crisp4'
ID 619152
Institutional Source Beutler Lab
Gene Symbol Crisp4
Ensembl Gene ENSMUSG00000025774
Gene Name cysteine-rich secretory protein 4
Synonyms 9230112K08Rik
MMRRC Submission 067490-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8053 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 18185415-18216126 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 18194498 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 208 (Q208L)
Ref Sequence ENSEMBL: ENSMUSP00000111001 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026876] [ENSMUST00000115340] [ENSMUST00000115344]
AlphaFold E9PVG4
Predicted Effect possibly damaging
Transcript: ENSMUST00000026876
AA Change: Q169L

PolyPhen 2 Score 0.563 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000026876
Gene: ENSMUSG00000025774
AA Change: Q169L

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 benign
Transcript: ENSMUST00000115340
AA Change: Q165L

PolyPhen 2 Score 0.310 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000110997
Gene: ENSMUSG00000025774
AA Change: Q165L

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 benign
Transcript: ENSMUST00000115344
AA Change: Q208L

PolyPhen 2 Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000111001
Gene: ENSMUSG00000025774
AA Change: Q208L

DomainStartEndE-ValueType
transmembrane domain 39 61 N/A INTRINSIC
SCP 83 227 1.32e-45 SMART
Pfam:Crisp 239 293 1.6e-23 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730507C01Rik C T 12: 18,583,728 (GRCm39) R263* probably null Het
Abca12 G A 1: 71,388,328 (GRCm39) R181* probably null Het
Adar T C 3: 89,654,592 (GRCm39) L908P probably damaging Het
Ankrd55 C T 13: 112,459,687 (GRCm39) R94C probably damaging Het
Aopep A T 13: 63,338,345 (GRCm39) K574* probably null Het
Carf A T 1: 60,167,197 (GRCm39) T177S probably benign Het
Ccdc162 C A 10: 41,520,577 (GRCm39) G693V probably benign Het
Ccng2 C G 5: 93,421,202 (GRCm39) S237R probably benign Het
Chd4 G T 6: 125,105,779 (GRCm39) E1799* probably null Het
Chrna3 T A 9: 54,922,674 (GRCm39) N378I probably benign Het
Clec4a2 T C 6: 123,104,998 (GRCm39) V96A probably benign Het
Cntnap5b T A 1: 100,318,402 (GRCm39) L683Q probably damaging Het
Crocc A G 4: 140,770,230 (GRCm39) probably null Het
Cyp2ab1 T C 16: 20,133,018 (GRCm39) E192G probably benign Het
Cyrib T C 15: 63,813,832 (GRCm39) D155G probably damaging Het
Daglb A G 5: 143,489,024 (GRCm39) K627R probably benign Het
Desi2 G A 1: 178,065,482 (GRCm39) W16* probably null Het
Dtx3l T C 16: 35,759,322 (GRCm39) probably benign Het
Elf2 A G 3: 51,215,551 (GRCm39) V53A possibly damaging Het
Eomes A G 9: 118,309,621 (GRCm39) D325G probably damaging Het
Etl4 A T 2: 20,666,774 (GRCm39) L60F probably damaging Het
Exoc4 A G 6: 33,309,191 (GRCm39) D271G probably benign Het
F5 A G 1: 164,020,338 (GRCm39) I938V probably benign Het
Fdxr T A 11: 115,160,665 (GRCm39) K290M probably benign Het
Fgd5 G A 6: 91,966,425 (GRCm39) S886N probably benign Het
Gm11595 G A 11: 99,662,954 (GRCm39) S242F unknown Het
Gm14322 A T 2: 177,411,424 (GRCm39) Q78L probably damaging Het
Gm8267 A T 14: 44,962,307 (GRCm39) S38T possibly damaging Het
Gpr75 A T 11: 30,841,559 (GRCm39) T155S probably benign Het
Hectd3 T C 4: 116,858,055 (GRCm39) S628P possibly damaging Het
Hrh2 A G 13: 54,368,104 (GRCm39) T27A probably benign Het
Kif16b G A 2: 142,695,634 (GRCm39) R157C probably damaging Het
Krt16 T C 11: 100,137,613 (GRCm39) Y364C probably damaging Het
Lrrc37 T A 11: 103,495,392 (GRCm39) K2809I unknown Het
Map2k5 T A 9: 63,250,707 (GRCm39) N95I probably benign Het
Melk A G 4: 44,318,109 (GRCm39) Y170C probably damaging Het
Mthfd1 T A 12: 76,327,282 (GRCm39) D123E probably damaging Het
Muc2 A T 7: 141,284,575 (GRCm39) Y827F probably benign Het
Myh15 T A 16: 48,963,302 (GRCm39) M1081K possibly damaging Het
Nbeal1 A G 1: 60,318,954 (GRCm39) T1998A probably damaging Het
Neb T A 2: 52,176,029 (GRCm39) T1477S possibly damaging Het
Nox4 C A 7: 87,019,255 (GRCm39) P416Q probably damaging Het
Or10ak7 A G 4: 118,791,308 (GRCm39) S246P probably damaging Het
Or1e31 T C 11: 73,689,822 (GRCm39) T254A probably benign Het
Or2j3 A T 17: 38,616,101 (GRCm39) F84I probably benign Het
Or4c123 A T 2: 89,127,540 (GRCm39) F25I possibly damaging Het
Or5g23 T C 2: 85,439,234 (GRCm39) T7A probably damaging Het
Pcdhga4 A G 18: 37,819,308 (GRCm39) K286E probably benign Het
Pde10a A G 17: 9,193,604 (GRCm39) T679A probably benign Het
Phc2 C T 4: 128,603,433 (GRCm39) Q188* probably null Het
Pramel12 C A 4: 143,144,208 (GRCm39) Q185K probably benign Het
Prdm15 A G 16: 97,636,807 (GRCm39) M170T probably benign Het
Rab20 G T 8: 11,504,443 (GRCm39) Q86K probably damaging Het
Rev1 T C 1: 38,102,222 (GRCm39) I714V possibly damaging Het
Rexo2 A G 9: 48,386,418 (GRCm39) probably null Het
Rnf213 A G 11: 119,293,473 (GRCm39) K75E Het
Sdk2 C T 11: 113,745,177 (GRCm39) R706Q probably damaging Het
Sema3c C T 5: 17,860,020 (GRCm39) T95I probably benign Het
Sh3rf2 T A 18: 42,286,087 (GRCm39) S527T probably damaging Het
Sis A T 3: 72,856,901 (GRCm39) Y434* probably null Het
Slc16a6 G A 11: 109,349,395 (GRCm39) T222I probably damaging Het
Smad6 A G 9: 63,927,789 (GRCm39) L173P probably damaging Het
Sugct T A 13: 17,476,554 (GRCm39) N310I probably damaging Het
Syne1 T A 10: 5,002,658 (GRCm39) K259* probably null Het
Taar6 A G 10: 23,861,144 (GRCm39) V134A possibly damaging Het
Tmem199 A G 11: 78,398,612 (GRCm39) I184T possibly damaging Het
Tnrc18 G T 5: 142,736,385 (GRCm39) D1530E unknown Het
Tnxb G A 17: 34,923,153 (GRCm39) V2579M probably damaging Het
Vangl2 A G 1: 171,832,303 (GRCm39) F518L probably damaging Het
Vmn2r40 T C 7: 8,911,245 (GRCm39) T683A Het
Wapl C T 14: 34,414,278 (GRCm39) T380I probably damaging Het
Zfp874b A T 13: 67,622,217 (GRCm39) H360Q probably damaging 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
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
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'- CTTTCCAGTGAATGACTAGAATCAC -3'
(R):5'- TTGTTCCACTAAGGTGTCCTAAAC -3'

Sequencing Primer
(F):5'- CAAACATTTGGGGTATATTTGTGAC -3'
(R):5'- GGAGTCACTTTCATGTCCACTAAAG -3'
Posted On 2020-01-23