Incidental Mutation 'R5733:Crtap'
ID 451544
Institutional Source Beutler Lab
Gene Symbol Crtap
Ensembl Gene ENSMUSG00000032431
Gene Name cartilage associated protein
Synonyms P3h5, 5730529N23Rik, Leprel3, CASP
MMRRC Submission 043193-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.151) question?
Stock # R5733 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 114204204-114219743 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 114207164 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 365 (T365A)
Ref Sequence ENSEMBL: ENSMUSP00000081941 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084881]
AlphaFold Q9CYD3
Predicted Effect probably benign
Transcript: ENSMUST00000084881
AA Change: T365A

PolyPhen 2 Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000081941
Gene: ENSMUSG00000032431
AA Change: T365A

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
internal_repeat_1 39 188 1.53e-14 PROSPERO
internal_repeat_1 201 338 1.53e-14 PROSPERO
low complexity region 380 398 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124664
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147689
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151377
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 97.0%
  • 20x: 95.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is similar to the chicken and mouse CRTAP genes. The encoded protein is a scaffolding protein that may influence the activity of at least one member of the cytohesin/ARNO family in response to specific cellular stimuli. Defects in this gene are associated with osteogenesis imperfecta, a connective tissue disorder characterized by bone fragility and low bone mass. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes develop kyphoscoliosis and osteoporosis as a result of defects in bone formation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acox3 T A 5: 35,762,543 (GRCm39) probably null Het
Ahnak2 A T 12: 112,742,100 (GRCm39) Y657* probably null Het
Anxa3 T A 5: 96,968,331 (GRCm39) I128N probably damaging Het
Bsnd T C 4: 106,345,198 (GRCm39) T83A probably benign Het
Capn10 A G 1: 92,871,635 (GRCm39) Y411C probably benign Het
Capn3 G A 2: 120,315,075 (GRCm39) W201* probably null Het
Daam1 A G 12: 71,992,272 (GRCm39) D329G unknown Het
Dmxl2 A T 9: 54,283,550 (GRCm39) L2761Q possibly damaging Het
Fcho2 A C 13: 98,926,310 (GRCm39) V91G probably damaging Het
Fen1 A T 19: 10,178,022 (GRCm39) C141S possibly damaging Het
Fkbp15 G C 4: 62,225,166 (GRCm39) A831G probably benign Het
Frmd4a A T 2: 4,305,768 (GRCm39) R14S possibly damaging Het
Fzr1 A G 10: 81,206,160 (GRCm39) F176L possibly damaging Het
Garem2 A G 5: 30,321,336 (GRCm39) D565G probably damaging Het
Garre1 A T 7: 33,944,505 (GRCm39) S76T probably damaging Het
Iqca1 G T 1: 89,998,257 (GRCm39) T549K probably damaging Het
Itgax T A 7: 127,739,647 (GRCm39) S686R probably damaging Het
Knop1 C A 7: 118,445,305 (GRCm39) G220C probably damaging Het
Lyzl1 T A 18: 4,169,142 (GRCm39) C49S probably damaging Het
Mpzl1 A T 1: 165,433,180 (GRCm39) I157K probably benign Het
Mrgprb2 T C 7: 48,202,261 (GRCm39) I155V probably benign Het
Mucl3 T C 17: 35,949,102 (GRCm39) M166V probably benign Het
Mvb12b T C 2: 33,717,728 (GRCm39) T167A probably benign Het
Myh3 A G 11: 66,979,445 (GRCm39) N491S probably benign Het
Myo5b A G 18: 74,787,128 (GRCm39) D511G possibly damaging Het
Or10ak8 C T 4: 118,774,035 (GRCm39) V210I probably benign Het
Or11h4 T C 14: 50,974,509 (GRCm39) T37A probably benign Het
Or6b1 C T 6: 42,815,180 (GRCm39) R122C probably damaging Het
Or8k21 T G 2: 86,145,558 (GRCm39) Q24P probably damaging Het
Ptcd1 A G 5: 145,091,671 (GRCm39) M476T probably damaging Het
Pum3 A G 19: 27,398,695 (GRCm39) probably null Het
Ranbp2 G A 10: 58,321,658 (GRCm39) D2652N probably damaging Het
Rassf1 T C 9: 107,435,213 (GRCm39) V166A probably damaging Het
Rictor A G 15: 6,812,585 (GRCm39) H907R probably benign Het
Rorb T C 19: 18,965,471 (GRCm39) E6G probably damaging Het
Serpina3f A T 12: 104,183,182 (GRCm39) T15S possibly damaging Het
Sorbs2 T C 8: 46,212,226 (GRCm39) L100P probably damaging Het
Sprr2k T C 3: 92,340,655 (GRCm39) probably benign Het
Srrm2 T A 17: 24,040,360 (GRCm39) S2431T probably damaging Het
Stox2 T A 8: 47,866,172 (GRCm39) K57* probably null Het
Ttc21a G A 9: 119,770,327 (GRCm39) V133I probably benign Het
Vasn T C 16: 4,468,026 (GRCm39) Y658H possibly damaging Het
Zfp251 A G 15: 76,754,527 (GRCm39) Y35H probably damaging Het
Other mutations in Crtap
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02721:Crtap APN 9 114,210,707 (GRCm39) missense probably damaging 0.99
IGL03131:Crtap APN 9 114,209,072 (GRCm39) missense possibly damaging 0.88
IGL03155:Crtap APN 9 114,209,117 (GRCm39) missense possibly damaging 0.68
R2014:Crtap UTSW 9 114,210,653 (GRCm39) critical splice donor site probably null
R2143:Crtap UTSW 9 114,209,036 (GRCm39) missense probably damaging 1.00
R4572:Crtap UTSW 9 114,213,874 (GRCm39) missense probably benign 0.41
R4781:Crtap UTSW 9 114,215,304 (GRCm39) missense probably benign 0.01
R5055:Crtap UTSW 9 114,219,208 (GRCm39) missense probably benign 0.36
R5157:Crtap UTSW 9 114,213,860 (GRCm39) missense probably damaging 1.00
R6858:Crtap UTSW 9 114,209,084 (GRCm39) missense probably damaging 1.00
R6906:Crtap UTSW 9 114,210,700 (GRCm39) missense probably benign 0.42
R7006:Crtap UTSW 9 114,215,391 (GRCm39) missense probably damaging 1.00
R7156:Crtap UTSW 9 114,207,164 (GRCm39) missense probably benign 0.07
R7705:Crtap UTSW 9 114,210,747 (GRCm39) missense probably damaging 1.00
R9695:Crtap UTSW 9 114,215,378 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- ACTGGCGTCCATTAAAACCC -3'
(R):5'- GCATACTTCAGTGGCTGTTG -3'

Sequencing Primer
(F):5'- AACAGCAGCTGTGTCCTC -3'
(R):5'- GTTGGGTATGTACACACTCACACAG -3'
Posted On 2017-01-03