Incidental Mutation 'R7156:Crtap'
ID 557321
Institutional Source Beutler Lab
Gene Symbol Crtap
Ensembl Gene ENSMUSG00000032431
Gene Name cartilage associated protein
Synonyms P3h5, 5730529N23Rik, Leprel3, CASP
MMRRC Submission 045257-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.151) question?
Stock # R7156 (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 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: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (81/81)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik T C 7: 40,643,282 (GRCm39) I317T possibly damaging Het
Acsl5 G A 19: 55,257,260 (GRCm39) probably null Het
Ahrr G A 13: 74,378,035 (GRCm39) T136I probably damaging Het
AI597479 G A 1: 43,150,261 (GRCm39) D124N probably damaging Het
Arap2 G T 5: 62,761,914 (GRCm39) A1604D probably damaging Het
Bcl6 G A 16: 23,784,976 (GRCm39) R675* probably null Het
Cadps2 T C 6: 23,688,955 (GRCm39) N118S probably benign Het
Caskin1 T A 17: 24,719,657 (GRCm39) probably null Het
Cc2d1a C T 8: 84,862,389 (GRCm39) V684M possibly damaging Het
Ccdc91 T C 6: 147,435,676 (GRCm39) S87P possibly damaging Het
Cdr2l A G 11: 115,281,792 (GRCm39) Q99R probably benign Het
Celsr3 T C 9: 108,715,203 (GRCm39) L2066P possibly damaging Het
Cep95 A C 11: 106,700,050 (GRCm39) L313F possibly damaging Het
Chst10 G A 1: 38,913,088 (GRCm39) T63M probably damaging Het
Clrn2 G A 5: 45,611,258 (GRCm39) G36R probably damaging Het
Cnn2 T G 10: 79,830,349 (GRCm39) Y273* probably null Het
D630045J12Rik T C 6: 38,171,964 (GRCm39) T735A possibly damaging Het
Disp2 C T 2: 118,622,292 (GRCm39) A1008V probably damaging Het
Dmrt3 A G 19: 25,588,317 (GRCm39) D52G probably damaging Het
Dmrta1 T G 4: 89,576,700 (GRCm39) L52R probably damaging Het
Dmrta2 A G 4: 109,839,185 (GRCm39) T311A probably damaging Het
Dnm1 T A 2: 32,230,479 (GRCm39) N112Y probably damaging Het
Dysf T C 6: 84,064,858 (GRCm39) probably null Het
Ep400 A G 5: 110,833,229 (GRCm39) F2034L unknown Het
F12 G A 13: 55,566,310 (GRCm39) A494V probably damaging Het
Fbp2 A T 13: 62,989,675 (GRCm39) F210L probably benign Het
Fbxo31 T A 8: 122,281,060 (GRCm39) Q362L possibly damaging Het
Fkbp4 C T 6: 128,412,787 (GRCm39) A95T probably benign Het
Frmd6 T G 12: 70,923,983 (GRCm39) C80W probably damaging Het
Fsip2 A G 2: 82,813,085 (GRCm39) I3135V probably benign Het
Garre1 G T 7: 33,945,133 (GRCm39) N582K possibly damaging Het
Guca2b T A 4: 119,514,887 (GRCm39) E34V probably damaging Het
Hdlbp G A 1: 93,341,637 (GRCm39) T974I probably damaging Het
Hsdl2 T A 4: 59,617,653 (GRCm39) M460K possibly damaging Het
Ift172 C T 5: 31,429,419 (GRCm39) V581M probably damaging Het
Ift74 A G 4: 94,549,189 (GRCm39) K313R possibly damaging Het
Ints4 T A 7: 97,184,493 (GRCm39) probably null Het
Iqca1l C T 5: 24,757,648 (GRCm39) E150K probably benign Het
Kif21b A C 1: 136,075,562 (GRCm39) T230P probably damaging Het
Kit A T 5: 75,776,034 (GRCm39) Y272F probably benign Het
Krt77 G A 15: 101,773,931 (GRCm39) T241M probably benign Het
Lce1j T A 3: 92,696,491 (GRCm39) S96C unknown Het
Marveld3 T A 8: 110,674,820 (GRCm39) D332V probably damaging Het
Matr3 G T 18: 35,705,974 (GRCm39) V300F probably damaging Het
Mical1 T A 10: 41,361,253 (GRCm39) probably null Het
Mslnl T A 17: 25,962,184 (GRCm39) V194E probably benign Het
Mug1 C A 6: 121,857,864 (GRCm39) T1119K probably damaging Het
Mug1 C T 6: 121,861,302 (GRCm39) P1308S probably damaging Het
Neb C A 2: 52,195,295 (GRCm39) probably null Het
Neo1 T A 9: 58,810,206 (GRCm39) T1082S probably damaging Het
Nkx6-2 C T 7: 139,162,045 (GRCm39) probably null Het
Or10g6 T C 9: 39,934,526 (GRCm39) I279T probably benign Het
Or8k27 T A 2: 86,275,652 (GRCm39) I225L probably damaging Het
Orc1 A T 4: 108,452,656 (GRCm39) E177V probably benign Het
Parp1 G A 1: 180,426,629 (GRCm39) V924I possibly damaging Het
Pax2 A T 19: 44,777,298 (GRCm39) I165F probably benign Het
Pnma2 C T 14: 67,153,980 (GRCm39) P135S probably benign Het
Ranbp17 A G 11: 33,247,420 (GRCm39) I718T probably damaging Het
Rbm25 T A 12: 83,710,965 (GRCm39) D359E unknown Het
Rgs3 T C 4: 62,535,363 (GRCm39) L194P probably damaging Het
Serpinb6b A G 13: 33,155,598 (GRCm39) I104V probably benign Het
Smg9 A G 7: 24,120,286 (GRCm39) D420G probably benign Het
Smpd1 C T 7: 105,203,693 (GRCm39) probably benign Het
Snx17 T A 5: 31,354,692 (GRCm39) M318K probably damaging Het
Spata31e5 A T 1: 28,815,848 (GRCm39) M728K possibly damaging Het
Stard10 G A 7: 100,995,258 (GRCm39) D337N probably damaging Het
Tex14 A G 11: 87,375,545 (GRCm39) T103A probably damaging Het
Tle1 A G 4: 72,088,953 (GRCm39) S97P probably benign Het
Tnfrsf8 T A 4: 145,041,654 (GRCm39) M1L unknown Het
Traf3ip2 T C 10: 39,502,173 (GRCm39) L107P possibly damaging Het
Trpc7 A T 13: 56,937,579 (GRCm39) S626T possibly damaging Het
Ubl7 T A 9: 57,837,039 (GRCm39) I350N probably damaging Het
Ubr3 T A 2: 69,851,967 (GRCm39) I1878N probably damaging Het
Usp24 G T 4: 106,245,116 (GRCm39) probably null Het
Vcan A T 13: 89,837,229 (GRCm39) S2772T possibly damaging Het
Vmn2r79 T C 7: 86,686,851 (GRCm39) V744A probably damaging Het
Wbp2nl T C 15: 82,189,903 (GRCm39) S32P probably damaging Het
Wwc1 A G 11: 35,788,201 (GRCm39) probably null Het
Zfp629 C T 7: 127,211,463 (GRCm39) W115* probably null 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
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
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'- TGGCGTCCATTAAAACCCC -3'
(R):5'- TCTGCATACTTCAGTGGCTG -3'

Sequencing Primer
(F):5'- AACAGCAGCTGTGTCCTC -3'
(R):5'- GTTGGGTATGTACACACTCACACAG -3'
Posted On 2019-06-26