Incidental Mutation 'R8205:Crisp2'
ID 635891
Institutional Source Beutler Lab
Gene Symbol Crisp2
Ensembl Gene ENSMUSG00000023930
Gene Name cysteine-rich secretory protein 2
Synonyms GAPDL5, Tpx-1, Tpx1, CRISP-2
MMRRC Submission 067628-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8205 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 41075625-41105037 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 41095969 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 63 (E63G)
Ref Sequence ENSEMBL: ENSMUSP00000024724 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024724] [ENSMUST00000131699] [ENSMUST00000141204] [ENSMUST00000144243]
AlphaFold P16563
PDB Structure The cysteine-rich secretory protein domain of Tpx-1 is related to ion channel toxins and regulates Ryanodine receptor Ca2+ signaling [SOLUTION NMR]
Predicted Effect possibly damaging
Transcript: ENSMUST00000024724
AA Change: E63G

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000024724
Gene: ENSMUSG00000023930
AA Change: E63G

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
SCP 36 177 1.56e-56 SMART
Pfam:Crisp 189 243 4e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000131699
AA Change: E63G

PolyPhen 2 Score 0.433 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000115730
Gene: ENSMUSG00000023930
AA Change: E63G

DomainStartEndE-ValueType
SCOP:d1qnxa_ 17 85 2e-15 SMART
PDB:1WVR|A 26 92 5e-19 PDB
Blast:SCP 36 93 2e-34 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000141204
Predicted Effect possibly damaging
Transcript: ENSMUST00000144243
AA Change: E63G

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000114224
Gene: ENSMUSG00000023930
AA Change: E63G

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
SCP 36 171 5.77e-51 SMART
Meta Mutation Damage Score 0.1712 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.2%
Validation Efficiency 100% (52/52)
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam39 T C 8: 41,278,080 (GRCm39) V157A probably benign Het
Adamtsl1 A G 4: 86,117,650 (GRCm39) *204W probably null Het
Add2 A G 6: 86,063,899 (GRCm39) E66G probably damaging Het
Adgrd1 A G 5: 129,192,175 (GRCm39) T114A possibly damaging Het
Aldh7a1 A T 18: 56,678,070 (GRCm39) I247N probably damaging Het
Ankrd13d A T 19: 4,331,009 (GRCm39) M166K probably damaging Het
Brd7 A G 8: 89,070,243 (GRCm39) F388L probably damaging Het
Cap2 G A 13: 46,768,739 (GRCm39) V182M probably damaging Het
Col22a1 A T 15: 71,732,918 (GRCm39) V1100E unknown Het
Cracdl T C 1: 37,664,047 (GRCm39) D617G probably benign Het
Dst T G 1: 34,253,685 (GRCm39) W2304G probably damaging Het
Eif2a A C 3: 58,456,156 (GRCm39) N385T probably damaging Het
Eif4ebp2 A T 10: 61,270,704 (GRCm39) H108Q probably benign Het
Fgd3 T C 13: 49,449,823 (GRCm39) D142G probably benign Het
Gbp8 T A 5: 105,198,846 (GRCm39) H23L probably benign Het
Glt1d1 A G 5: 127,768,080 (GRCm39) E229G probably benign Het
Gpatch8 T C 11: 102,371,213 (GRCm39) D775G unknown Het
Heatr1 T C 13: 12,430,928 (GRCm39) Y1008H probably benign Het
Heatr5a T A 12: 52,005,792 (GRCm39) N61I probably benign Het
Hydin A T 8: 111,319,270 (GRCm39) H4391L possibly damaging Het
Ifi206 T C 1: 173,309,450 (GRCm39) E182G Het
Mbtps1 A G 8: 120,247,077 (GRCm39) S789P probably damaging Het
Mex3a T C 3: 88,444,159 (GRCm39) S412P possibly damaging Het
Msantd5f1 G A 4: 73,605,542 (GRCm39) V318I possibly damaging Het
Mup2 T A 4: 60,137,659 (GRCm39) D128V probably benign Het
Ndufaf7 G A 17: 79,254,461 (GRCm39) C418Y probably benign Het
Nlrp4a A G 7: 26,150,219 (GRCm39) S609G probably benign Het
Obscn T A 11: 58,898,697 (GRCm39) Y6554F unknown Het
Odf2l A G 3: 144,856,495 (GRCm39) probably benign Het
Or14j2 A T 17: 37,885,892 (GRCm39) C141S probably damaging Het
Or1o11 T C 17: 37,757,180 (GRCm39) V245A probably damaging Het
Or4c104 A T 2: 88,587,016 (GRCm39) M1K probably null Het
Plod2 G T 9: 92,424,371 (GRCm39) probably benign Het
Ptgfr A G 3: 151,541,418 (GRCm39) V30A probably benign Het
Pxdn T G 12: 30,056,566 (GRCm39) L1259R probably damaging Het
Rnf6 A G 5: 146,147,714 (GRCm39) S435P probably damaging Het
Sacm1l G A 9: 123,415,724 (GRCm39) probably null Het
Scgb2b26 T C 7: 33,643,833 (GRCm39) T36A probably benign Het
Slc1a7 A G 4: 107,865,508 (GRCm39) N332S probably benign Het
Slfn5 T C 11: 82,851,544 (GRCm39) F614L probably benign Het
Smad7 C A 18: 75,527,119 (GRCm39) Q322K probably damaging Het
Smap1 T C 1: 23,888,507 (GRCm39) T253A probably benign Het
Socs5 G T 17: 87,441,138 (GRCm39) R26L probably benign Het
Steap4 A T 5: 8,026,795 (GRCm39) I253F possibly damaging Het
Tacc1 G A 8: 25,672,803 (GRCm39) H142Y probably benign Het
Tent5c A G 3: 100,380,138 (GRCm39) F206S probably benign Het
Tmem117 G A 15: 94,992,679 (GRCm39) M446I probably benign Het
Trav7-6 G A 14: 53,954,550 (GRCm39) D47N probably benign Het
Trim2 C A 3: 84,100,646 (GRCm39) A162S probably damaging Het
Ttc28 A G 5: 111,373,596 (GRCm39) I1011V possibly damaging Het
Vmn2r98 T C 17: 19,301,425 (GRCm39) V809A probably damaging Het
Wfikkn1 T A 17: 26,097,071 (GRCm39) T418S probably benign Het
Zbtb41 T A 1: 139,356,919 (GRCm39) D391E possibly damaging Het
Zfp109 G A 7: 23,928,635 (GRCm39) S266F probably damaging Het
Other mutations in Crisp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4948:Crisp2 UTSW 17 41,076,159 (GRCm39) missense probably damaging 0.99
R9352:Crisp2 UTSW 17 41,078,200 (GRCm39) missense probably damaging 0.96
R9420:Crisp2 UTSW 17 41,094,724 (GRCm39) missense possibly damaging 0.80
Predicted Primers PCR Primer
(F):5'- TGTGCACAGTCTTAATGCAATGTC -3'
(R):5'- TCATGTGGAAACTGGTACACACTG -3'

Sequencing Primer
(F):5'- TCCCACAAAGGACTGTTAGGGTTG -3'
(R):5'- TGGTACACACTGGAATTAAAACACG -3'
Posted On 2020-07-13