Incidental Mutation 'R6906:Crtap'
ID 538784
Institutional Source Beutler Lab
Gene Symbol Crtap
Ensembl Gene ENSMUSG00000032431
Gene Name cartilage associated protein
Synonyms P3h5, 5730529N23Rik, Leprel3, CASP
MMRRC Submission 044998-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.198) question?
Stock # R6906 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 114204204-114219743 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 114210700 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 291 (K291N)
Ref Sequence ENSEMBL: ENSMUSP00000081941 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084881]
AlphaFold Q9CYD3
Predicted Effect probably benign
Transcript: ENSMUST00000084881
AA Change: K291N

PolyPhen 2 Score 0.424 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000081941
Gene: ENSMUSG00000032431
AA Change: K291N

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.3%
Validation Efficiency 98% (45/46)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf2 A G 5: 24,773,840 (GRCm39) F350L possibly damaging Het
Ahnak2 T A 12: 112,748,933 (GRCm39) T305S probably benign Het
Anp32a A G 9: 62,284,851 (GRCm39) probably benign Het
Aplf A G 6: 87,607,068 (GRCm39) S449P possibly damaging Het
Arl6ip4 A G 5: 124,254,614 (GRCm39) R36G possibly damaging Het
Ascc1 G A 10: 59,840,674 (GRCm39) D12N probably benign Het
Bin1 C A 18: 32,554,978 (GRCm39) H243Q probably benign Het
Ccdc168 C T 1: 44,095,173 (GRCm39) S1975N probably benign Het
Ccdc7a C A 8: 129,662,162 (GRCm39) V547L unknown Het
Cntnap5c T A 17: 58,702,302 (GRCm39) N1207K probably benign Het
Coro7 C A 16: 4,451,168 (GRCm39) R507L probably benign Het
Csmd3 T C 15: 47,710,569 (GRCm39) T1569A probably benign Het
Dmrta1 A G 4: 89,580,203 (GRCm39) T388A probably benign Het
Ehd3 T C 17: 74,137,333 (GRCm39) F501L probably damaging Het
Fbn2 A C 18: 58,204,891 (GRCm39) L1184R possibly damaging Het
Fhip1b G A 7: 105,037,476 (GRCm39) T369I probably damaging Het
Hsf1 T C 15: 76,361,919 (GRCm39) probably null Het
Hycc1 A T 5: 24,204,956 (GRCm39) W12R probably damaging Het
Kansl1l T C 1: 66,762,437 (GRCm39) H810R possibly damaging Het
Lrp5 A T 19: 3,672,638 (GRCm39) I557N probably damaging Het
Lypd1 T C 1: 125,838,196 (GRCm39) E41G probably damaging Het
Mgam A G 6: 40,724,853 (GRCm39) Y443C probably damaging Het
Muc2 A G 7: 141,284,976 (GRCm39) D871G probably damaging Het
Nup85 T A 11: 115,471,769 (GRCm39) Y198N probably damaging Het
Obscn T A 11: 58,923,744 (GRCm39) M6578L possibly damaging Het
Or8h7 T C 2: 86,721,091 (GRCm39) T143A probably benign Het
Osbpl5 G C 7: 143,248,065 (GRCm39) Q667E probably damaging Het
Ovgp1 T A 3: 105,894,189 (GRCm39) probably benign Het
Prl8a2 T A 13: 27,532,900 (GRCm39) N37K probably benign Het
Ptprf A T 4: 118,126,474 (GRCm39) I93N possibly damaging Het
Rnf112 T C 11: 61,341,215 (GRCm39) S457G probably null Het
Sema3e A G 5: 14,290,601 (GRCm39) D562G probably damaging Het
Sesn3 A G 9: 14,236,937 (GRCm39) M472V probably damaging Het
Sfpq GCCGCCGCAGCAGCCTCCGCCGCAGCAGCC GCCGCCGCAGCAGCC 4: 126,915,419 (GRCm39) probably benign Het
Shc3 T C 13: 51,620,595 (GRCm39) T144A probably damaging Het
Sis A G 3: 72,826,818 (GRCm39) L1287P probably damaging Het
Srrm2 C T 17: 24,039,337 (GRCm39) P2090S probably damaging Het
Syne2 T G 12: 76,042,760 (GRCm39) D3910E possibly damaging Het
Tcaim C T 9: 122,663,839 (GRCm39) T443I probably benign Het
Tex19.1 T C 11: 121,037,948 (GRCm39) V102A probably benign Het
Tpd52l1 T G 10: 31,208,950 (GRCm39) T168P possibly damaging Het
Trdn G A 10: 33,109,944 (GRCm39) C294Y probably benign Het
Trmt1l T C 1: 151,327,926 (GRCm39) Y479H probably benign Het
Vmn1r171 G A 7: 23,331,804 (GRCm39) V10I probably benign Het
Zbtb41 T A 1: 139,351,128 (GRCm39) D80E possibly damaging Het
Zcchc4 A G 5: 52,980,976 (GRCm39) K473E possibly 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
R5733:Crtap UTSW 9 114,207,164 (GRCm39) missense probably benign 0.07
R6858:Crtap UTSW 9 114,209,084 (GRCm39) missense probably damaging 1.00
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'- CTCCCAGAGAACAGCAGGCA -3'
(R):5'- TGTGGAAGGCAGGACTAGAC -3'

Sequencing Primer
(F):5'- ACCCAGAGTTCAAGGTTGGC -3'
(R):5'- GCAGGACTAGACTGAGGGATTG -3'
Posted On 2018-11-06