Incidental Mutation 'R5157:Crtap'
ID 396784
Institutional Source Beutler Lab
Gene Symbol Crtap
Ensembl Gene ENSMUSG00000032431
Gene Name cartilage associated protein
Synonyms 5730529N23Rik, P3h5, CASP, Leprel3
MMRRC Submission 042739-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.135) question?
Stock # R5157 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 114375134-114390675 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 114384792 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 232 (L232F)
Ref Sequence ENSEMBL: ENSMUSP00000081941 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084881]
AlphaFold Q9CYD3
Predicted Effect probably damaging
Transcript: ENSMUST00000084881
AA Change: L232F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000081941
Gene: ENSMUSG00000032431
AA Change: L232F

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
Meta Mutation Damage Score 0.8693 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.2%
Validation Efficiency 100% (57/57)
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
0610009B22Rik A T 11: 51,686,066 S2T probably benign Het
Abca3 C T 17: 24,408,122 R1266C probably damaging Het
Adap2 T C 11: 80,156,946 F76S probably damaging Het
Adgb T A 10: 10,398,966 H747L probably damaging Het
Aox1 T A 1: 58,070,063 V670D probably damaging Het
Ap4e1 A G 2: 127,061,695 D839G probably benign Het
Arhgef11 T A 3: 87,728,510 probably null Het
AY074887 T C 9: 54,950,818 probably benign Het
Bicd1 C G 6: 149,520,414 Q878E probably benign Het
Catspere1 A T 1: 177,879,782 noncoding transcript Het
Cnmd T C 14: 79,656,686 Q87R probably benign Het
Col24a1 G T 3: 145,345,951 G661* probably null Het
Ctsq T C 13: 61,037,099 T258A probably benign Het
Cyp2d26 T C 15: 82,790,989 Q388R probably benign Het
Ddb1 A T 19: 10,622,364 T646S probably benign Het
Dnah6 G T 6: 73,195,634 S280R probably benign Het
Dzank1 T C 2: 144,483,412 H545R probably damaging Het
Ehhadh T A 16: 21,766,511 M207L probably benign Het
Elmo2 T A 2: 165,291,707 probably benign Het
Golga3 G A 5: 110,202,671 A731T probably benign Het
Igsf21 T C 4: 140,028,067 T426A possibly damaging Het
Kcnf1 T C 12: 17,174,741 E493G probably benign Het
Lmna A T 3: 88,484,107 D364E probably damaging Het
Lsr T C 7: 30,966,040 Y163C probably damaging Het
Map3k20 A T 2: 72,438,214 T522S probably benign Het
Mpp5 T A 12: 78,820,815 M324K possibly damaging Het
Mroh9 C A 1: 163,044,121 A598S probably damaging Het
Msln T C 17: 25,752,983 M87V probably benign Het
Olfr1155 T A 2: 87,942,888 M247L probably benign Het
Olfr1197 T A 2: 88,729,548 Q17L probably benign Het
Olfr292 A G 7: 86,695,232 K259E probably benign Het
Olfr385 T C 11: 73,589,723 N5S probably damaging Het
Plekhg5 T A 4: 152,107,865 probably benign Het
Pprc1 G T 19: 46,064,758 probably benign Het
Ptprm T A 17: 66,957,097 K385I probably benign Het
Rfxap T A 3: 54,804,517 N215I probably damaging Het
Slc16a7 A T 10: 125,233,464 Y114* probably null Het
Smarcb1 G T 10: 75,911,794 probably benign Het
Spef2 T A 15: 9,668,791 R770* probably null Het
Stard9 A T 2: 120,697,861 Y1533F probably benign Het
Tbcd A T 11: 121,610,027 Y1142F probably benign Het
Ttc23l G T 15: 10,551,550 T30K possibly damaging Het
Uba7 G A 9: 107,980,047 V703I probably benign Het
Upb1 T C 10: 75,412,804 S53P possibly damaging Het
Zfp672 A G 11: 58,316,851 S215P possibly damaging Het
Zfp978 T A 4: 147,390,980 L328H probably damaging Het
Other mutations in Crtap
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02721:Crtap APN 9 114381639 missense probably damaging 0.99
IGL03131:Crtap APN 9 114380004 missense possibly damaging 0.88
IGL03155:Crtap APN 9 114380049 missense possibly damaging 0.68
R2014:Crtap UTSW 9 114381585 critical splice donor site probably null
R2143:Crtap UTSW 9 114379968 missense probably damaging 1.00
R4572:Crtap UTSW 9 114384806 missense probably benign 0.41
R4781:Crtap UTSW 9 114386236 missense probably benign 0.01
R5055:Crtap UTSW 9 114390140 missense probably benign 0.36
R5733:Crtap UTSW 9 114378096 missense probably benign 0.07
R6858:Crtap UTSW 9 114380016 missense probably damaging 1.00
R6906:Crtap UTSW 9 114381632 missense probably benign 0.42
R7006:Crtap UTSW 9 114386323 missense probably damaging 1.00
R7156:Crtap UTSW 9 114378096 missense probably benign 0.07
R7705:Crtap UTSW 9 114381679 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGTAAGCAAGACCTCAAGGC -3'
(R):5'- TTAAGGGTCATCCAGGAGCG -3'

Sequencing Primer
(F):5'- GGTCTACACAGTGAGATCCTGTC -3'
(R):5'- TCATCCAGGAGCGAGGAAGC -3'
Posted On 2016-06-21