Incidental Mutation 'R6149:Crtac1'
ID 489110
Institutional Source Beutler Lab
Gene Symbol Crtac1
Ensembl Gene ENSMUSG00000042401
Gene Name cartilage acidic protein 1
Synonyms Lotus, Crtac1B, 2810454P21Rik
MMRRC Submission 044296-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.334) question?
Stock # R6149 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 42271474-42421405 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 42272048 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 632 (Y632H)
Ref Sequence ENSEMBL: ENSMUSP00000044858 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048630]
AlphaFold Q8R555
Predicted Effect unknown
Transcript: ENSMUST00000048630
AA Change: Y632H
SMART Domains Protein: ENSMUSP00000044858
Gene: ENSMUSG00000042401
AA Change: Y632H

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
Meta Mutation Damage Score 0.3234 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.1%
Validation Efficiency 99% (69/70)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930558K02Rik T A 1: 161,777,211 (GRCm39) R115S probably benign Het
Adgre1 A G 17: 57,752,018 (GRCm39) K589E probably benign Het
Adgrv1 A T 13: 81,330,893 (GRCm39) L74Q probably damaging Het
Avil A G 10: 126,842,451 (GRCm39) I77V probably benign Het
Best2 T C 8: 85,739,896 (GRCm39) E57G probably benign Het
Cacna1a T C 8: 85,296,581 (GRCm39) C1200R probably damaging Het
Catsperb T A 12: 101,516,098 (GRCm39) I578K probably damaging Het
Chsy1 A G 7: 65,775,133 (GRCm39) Y154C probably damaging Het
Chuk A G 19: 44,090,270 (GRCm39) V74A probably damaging Het
Ckb T C 12: 111,638,248 (GRCm39) S49G probably damaging Het
Ern1 C A 11: 106,296,641 (GRCm39) E770* probably null Het
Fam114a2 A C 11: 57,378,415 (GRCm39) V450G probably benign Het
Fgf15 C T 7: 144,453,506 (GRCm39) Q125* probably null Het
Frem2 A T 3: 53,458,762 (GRCm39) S2036T probably damaging Het
Fxr2 G A 11: 69,540,030 (GRCm39) V296I probably benign Het
Gm15264 C A 3: 94,640,736 (GRCm39) noncoding transcript Het
Ifi213 A T 1: 173,421,581 (GRCm39) S103T probably benign Het
Igkv5-37 T A 6: 69,940,472 (GRCm39) Q57H probably damaging Het
Il1rap A G 16: 26,530,969 (GRCm39) Y435C probably damaging Het
Kl T A 5: 150,912,318 (GRCm39) M689K possibly damaging Het
Lcor T A 19: 41,573,641 (GRCm39) W799R probably damaging Het
Lnp1 C T 16: 56,737,735 (GRCm39) E118K probably benign Het
Lrif1 A C 3: 106,639,643 (GRCm39) K243Q possibly damaging Het
Lrp1b G T 2: 40,765,165 (GRCm39) probably null Het
Lvrn G A 18: 47,017,499 (GRCm39) V610I probably benign Het
Med1 T C 11: 98,074,679 (GRCm39) K67R possibly damaging Het
Midn T C 10: 79,990,291 (GRCm39) S278P probably damaging Het
Nrap A G 19: 56,377,885 (GRCm39) V35A possibly damaging Het
Nynrin A T 14: 56,091,780 (GRCm39) Q32L possibly damaging Het
Oog1 C T 12: 87,653,043 (GRCm39) T113I possibly damaging Het
Or10ak7 A G 4: 118,791,628 (GRCm39) L139P probably damaging Het
Or10j3 G T 1: 173,031,582 (GRCm39) V220F probably benign Het
Or4x11 C T 2: 89,867,860 (GRCm39) A199V probably benign Het
Or5b21 A T 19: 12,839,723 (GRCm39) I195F probably benign Het
Or6a2 T C 7: 106,600,807 (GRCm39) I87V probably benign Het
Otogl C T 10: 107,717,314 (GRCm39) V386I probably benign Het
Patj A G 4: 98,312,562 (GRCm39) N300S possibly damaging Het
Pcdhb16 T A 18: 37,612,208 (GRCm39) D389E possibly damaging Het
Pdcd6ip T C 9: 113,488,939 (GRCm39) I699V probably benign Het
Pfas A G 11: 68,882,771 (GRCm39) V790A probably benign Het
Plppr4 A T 3: 117,116,043 (GRCm39) C605S probably benign Het
Ppl G A 16: 4,925,460 (GRCm39) Q60* probably null Het
Ppp1r1c A G 2: 79,586,810 (GRCm39) K52R possibly damaging Het
Pramel29 A G 4: 143,933,983 (GRCm39) S375P probably damaging Het
Prpf40a T C 2: 53,047,927 (GRCm39) M197V probably benign Het
Rpe65 G A 3: 159,319,780 (GRCm39) E217K probably benign Het
Rufy4 T C 1: 74,186,892 (GRCm39) I560T probably benign Het
Ryr2 T C 13: 11,683,903 (GRCm39) S3054G probably benign Het
Serpinb6a A T 13: 34,102,343 (GRCm39) L273H probably damaging Het
Sf3b1 A T 1: 55,046,666 (GRCm39) W293R probably damaging Het
Sik1 A T 17: 32,067,771 (GRCm39) S435T possibly damaging Het
Slc2a12 G T 10: 22,540,401 (GRCm39) M85I probably benign Het
Stk36 T C 1: 74,673,388 (GRCm39) S1094P probably benign Het
Tctn1 A T 5: 122,384,649 (GRCm39) Y393N probably benign Het
Tex9 C T 9: 72,369,282 (GRCm39) probably null Het
Thbs2 A G 17: 14,899,942 (GRCm39) probably null Het
Tmprss7 A T 16: 45,494,268 (GRCm39) C412* probably null Het
Tpp1 T C 7: 105,396,934 (GRCm39) T399A probably benign Het
Trim25 T A 11: 88,906,362 (GRCm39) V387D probably benign Het
Usp45 A C 4: 21,810,797 (GRCm39) D331A probably damaging Het
Vill T G 9: 118,887,482 (GRCm39) V82G possibly damaging Het
Vmn1r189 T C 13: 22,286,054 (GRCm39) D261G probably benign Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Vmn2r111 G A 17: 22,767,796 (GRCm39) T567I probably benign Het
Vmn2r60 A G 7: 41,786,400 (GRCm39) Y401C probably damaging Het
Zc3h11a G A 1: 133,566,613 (GRCm39) R69* probably null 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
R2280:Crtac1 UTSW 19 42,272,006 (GRCm39) missense unknown
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
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'- CCTTTTCAAAGATGGCCACCC -3'
(R):5'- TGCAAATAGCTCCTCCAAGTC -3'

Sequencing Primer
(F):5'- AAAGATGGCCACCCCTGCTG -3'
(R):5'- CCAAGTCACCTTTGGCAGATAATTTC -3'
Posted On 2017-10-10