Incidental Mutation 'R2280:Crtac1'
ID 243085
Institutional Source Beutler Lab
Gene Symbol Crtac1
Ensembl Gene ENSMUSG00000042401
Gene Name cartilage acidic protein 1
Synonyms Lotus, Crtac1B, 2810454P21Rik
MMRRC Submission 040279-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.487) question?
Stock # R2280 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 42271474-42421405 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 42272006 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 646 (L646F)
Ref Sequence ENSEMBL: ENSMUSP00000044858 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048630]
AlphaFold Q8R555
Predicted Effect unknown
Transcript: ENSMUST00000048630
AA Change: L646F
SMART Domains Protein: ENSMUSP00000044858
Gene: ENSMUSG00000042401
AA Change: L646F

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
Pfam:VCBS 63 133 6.6e-12 PFAM
Pfam:VCBS 254 311 2e-12 PFAM
Pfam:VCBS 300 364 4.9e-13 PFAM
low complexity region 403 417 N/A INTRINSIC
Pfam:UnbV_ASPIC 459 528 8.9e-18 PFAM
Pfam:EGF_CA 560 606 2.1e-13 PFAM
low complexity region 630 646 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175493
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a glycosylated extracellular matrix protein that is found in the interterritorial matrix of articular deep zone cartilage. This protein is used as a marker to distinguish chondrocytes from osteoblasts and mesenchymal stem cells in culture. The presence of FG-GAP motifs and an RGD integrin-binding motif suggests that this protein may be involved in cell-cell or cell-matrix interactions. Copy number alterations in this gene have been observed in neurofibromatosis type 1-associated glomus tumors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormalities in lateral olfactory tract morphology and axon fasciculation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alms1 A G 6: 85,654,955 (GRCm39) N2698S probably damaging Het
Ankrd37 T C 8: 46,452,413 (GRCm39) T19A probably benign Het
Anks1b A C 10: 90,802,164 (GRCm39) K353N probably damaging Het
Ano3 T A 2: 110,513,104 (GRCm39) E630D probably benign Het
Ap3b1 A G 13: 94,664,724 (GRCm39) M888V unknown Het
Apoh T A 11: 108,300,006 (GRCm39) Y218* probably null Het
Arhgef19 G A 4: 140,973,827 (GRCm39) G105S probably benign Het
Brd7 A G 8: 89,069,385 (GRCm39) S437P probably benign Het
Cacna2d4 A T 6: 119,327,002 (GRCm39) Q1089L possibly damaging Het
Ccdc168 T A 1: 44,095,620 (GRCm39) H1826L possibly damaging Het
Ccser1 A T 6: 61,547,799 (GRCm39) M49L probably damaging Het
Cep170 A T 1: 176,602,071 (GRCm39) V345E probably benign Het
Chaf1b T G 16: 93,688,459 (GRCm39) Y185D probably damaging Het
Clasp1 C T 1: 118,492,913 (GRCm39) P1153S probably benign Het
Clvs2 A T 10: 33,404,496 (GRCm39) I240N probably damaging Het
Cox8c A T 12: 102,865,713 (GRCm39) H30L possibly damaging Het
Cyp46a1 T C 12: 108,321,730 (GRCm39) S319P probably damaging Het
Dcdc5 G A 2: 106,202,867 (GRCm39) noncoding transcript Het
Ddx4 T C 13: 112,757,190 (GRCm39) I377V probably benign Het
Dis3l T A 9: 64,225,076 (GRCm39) N407I possibly damaging Het
Dysf A C 6: 84,041,476 (GRCm39) T161P probably damaging Het
Ecsit C T 9: 21,987,836 (GRCm39) V68I possibly damaging Het
Ei24 A G 9: 36,693,635 (GRCm39) probably null Het
Fbxl19 A T 7: 127,347,540 (GRCm39) D32V possibly damaging Het
Fgd5 G A 6: 91,965,926 (GRCm39) V562M possibly damaging Het
Flnc G A 6: 29,438,665 (GRCm39) W186* probably null Het
Frem2 A G 3: 53,479,844 (GRCm39) C1950R probably damaging Het
Fryl T C 5: 73,198,707 (GRCm39) D2640G possibly damaging Het
Ganab T C 19: 8,886,832 (GRCm39) V306A probably damaging Het
Gbx2 A T 1: 89,858,359 (GRCm39) V40D probably damaging Het
Gcc2 C A 10: 58,105,502 (GRCm39) T210K probably benign Het
Gcn1 T A 5: 115,750,789 (GRCm39) M1991K probably damaging Het
Gpr18 T A 14: 122,150,017 (GRCm39) T3S probably benign Het
Herc2 A C 7: 55,787,019 (GRCm39) K1621N possibly damaging Het
Hspg2 A G 4: 137,249,354 (GRCm39) E1300G probably damaging Het
Krtap19-5 C T 16: 88,693,231 (GRCm39) C27Y unknown Het
Lrrc3b A T 14: 15,358,076 (GRCm38) L177M probably damaging Het
Mthfd1 T C 12: 76,327,266 (GRCm39) I118T probably benign Het
Ncoa4-ps A G 12: 119,226,573 (GRCm39) noncoding transcript Het
Nphp4 A G 4: 152,641,500 (GRCm39) K1094E possibly damaging Het
Npy1r C T 8: 67,156,711 (GRCm39) L44F possibly damaging Het
Or10aa1 C A 1: 173,870,087 (GRCm39) S190R probably benign Het
Pcx C A 19: 4,654,571 (GRCm39) R328S probably damaging Het
Pde6a T C 18: 61,395,505 (GRCm39) Y583H probably damaging Het
Pip5k1b T A 19: 24,356,311 (GRCm39) Y209F probably damaging Het
Plch2 A T 4: 155,068,766 (GRCm39) S1182T probably damaging Het
Pum1 A T 4: 130,493,322 (GRCm39) I696F probably damaging Het
Pxdn T C 12: 30,034,905 (GRCm39) V254A probably damaging Het
Rcsd1 C T 1: 165,486,998 (GRCm39) A72T probably benign Het
Rsph4a A T 10: 33,787,595 (GRCm39) I584L probably benign Het
Scamp5 A G 9: 57,352,722 (GRCm39) V149A probably benign Het
Sike1 A G 3: 102,904,694 (GRCm39) H134R possibly damaging Het
Slc12a9 A G 5: 137,330,474 (GRCm39) L77P probably damaging Het
Spmap2l T C 5: 77,207,214 (GRCm39) I324T probably damaging Het
Taar7f G A 10: 23,925,417 (GRCm39) A4T probably benign Het
Tmem216 T A 19: 10,529,237 (GRCm39) T104S probably damaging Het
Tpsg1 C T 17: 25,593,016 (GRCm39) R94C probably damaging Het
Utp20 A T 10: 88,661,365 (GRCm39) probably null Het
Wdr35 A G 12: 9,028,628 (GRCm39) Q82R probably benign Het
Zfp12 A G 5: 143,231,248 (GRCm39) Y525C probably damaging Het
Zfp532 T C 18: 65,757,783 (GRCm39) V572A probably damaging Het
Zfyve26 T A 12: 79,321,814 (GRCm39) Q935L probably damaging Het
Other mutations in Crtac1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00942:Crtac1 APN 19 42,312,233 (GRCm39) missense probably damaging 1.00
IGL01296:Crtac1 APN 19 42,272,652 (GRCm39) missense probably damaging 1.00
IGL01991:Crtac1 APN 19 42,402,560 (GRCm39) missense possibly damaging 0.96
IGL02811:Crtac1 APN 19 42,322,350 (GRCm39) missense probably damaging 1.00
R1957:Crtac1 UTSW 19 42,276,383 (GRCm39) missense possibly damaging 0.79
R2046:Crtac1 UTSW 19 42,322,492 (GRCm39) missense probably damaging 1.00
R2125:Crtac1 UTSW 19 42,312,171 (GRCm39) missense probably damaging 1.00
R2281:Crtac1 UTSW 19 42,272,006 (GRCm39) missense unknown
R3508:Crtac1 UTSW 19 42,293,180 (GRCm39) missense probably benign 0.09
R3923:Crtac1 UTSW 19 42,322,386 (GRCm39) missense probably damaging 1.00
R4072:Crtac1 UTSW 19 42,293,146 (GRCm39) missense probably damaging 1.00
R4798:Crtac1 UTSW 19 42,312,240 (GRCm39) missense possibly damaging 0.93
R4951:Crtac1 UTSW 19 42,402,570 (GRCm39) missense probably benign
R4965:Crtac1 UTSW 19 42,307,179 (GRCm39) missense probably damaging 1.00
R5190:Crtac1 UTSW 19 42,322,347 (GRCm39) missense possibly damaging 0.50
R5579:Crtac1 UTSW 19 42,293,245 (GRCm39) missense probably damaging 1.00
R5595:Crtac1 UTSW 19 42,402,390 (GRCm39) missense probably benign 0.08
R5739:Crtac1 UTSW 19 42,290,612 (GRCm39) missense probably damaging 1.00
R5872:Crtac1 UTSW 19 42,297,629 (GRCm39) splice site probably null
R5936:Crtac1 UTSW 19 42,312,276 (GRCm39) missense probably damaging 1.00
R6149:Crtac1 UTSW 19 42,272,048 (GRCm39) missense unknown
R6193:Crtac1 UTSW 19 42,312,236 (GRCm39) missense possibly damaging 0.47
R6858:Crtac1 UTSW 19 42,307,174 (GRCm39) missense possibly damaging 0.93
R7246:Crtac1 UTSW 19 42,276,365 (GRCm39) missense probably benign
R7726:Crtac1 UTSW 19 42,290,690 (GRCm39) nonsense probably null
R7991:Crtac1 UTSW 19 42,322,399 (GRCm39) missense probably benign 0.24
R8046:Crtac1 UTSW 19 42,297,492 (GRCm39) splice site probably benign
R8071:Crtac1 UTSW 19 42,286,239 (GRCm39) missense probably damaging 1.00
R8350:Crtac1 UTSW 19 42,297,625 (GRCm39) missense probably damaging 1.00
R8450:Crtac1 UTSW 19 42,297,625 (GRCm39) missense probably damaging 1.00
R9756:Crtac1 UTSW 19 42,286,780 (GRCm39) missense probably damaging 1.00
R9766:Crtac1 UTSW 19 42,402,557 (GRCm39) missense possibly damaging 0.96
X0018:Crtac1 UTSW 19 42,297,553 (GRCm39) missense probably damaging 1.00
Z1176:Crtac1 UTSW 19 42,276,365 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- AGGTCCCATCAGTATCTCCC -3'
(R):5'- GGATGCAAATAGCTCCTCCAAG -3'

Sequencing Primer
(F):5'- CAAACTTCCCTTTTCAAAGATGGC -3'
(R):5'- CCAAGTCACCTTTGGCAGATAATTTC -3'
Posted On 2014-10-16