Incidental Mutation 'R5621:Cilp'
ID 441570
Institutional Source Beutler Lab
Gene Symbol Cilp
Ensembl Gene ENSMUSG00000042254
Gene Name cartilage intermediate layer protein, nucleotide pyrophosphohydrolase
Synonyms C130036G17Rik
MMRRC Submission 043279-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5621 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 65172462-65187887 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 65186073 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 723 (K723E)
Ref Sequence ENSEMBL: ENSMUSP00000036631 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048762] [ENSMUST00000141382]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000048762
AA Change: K723E

PolyPhen 2 Score 0.713 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000036631
Gene: ENSMUSG00000042254
AA Change: K723E

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:Mucin2_WxxW 55 139 1.9e-24 PFAM
TSP1 152 201 3.09e-10 SMART
low complexity region 233 242 N/A INTRINSIC
IGc2 321 383 4.45e-10 SMART
low complexity region 1154 1170 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000141382
SMART Domains Protein: ENSMUSP00000121326
Gene: ENSMUSG00000042254

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Meta Mutation Damage Score 0.0815 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 98% (63/64)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Major alterations in the composition of the cartilage extracellular matrix occur in joint disease, such as osteoarthrosis. This gene encodes the cartilage intermediate layer protein (CILP), which increases in early osteoarthrosis cartilage. The encoded protein was thought to encode a protein precursor for two different proteins; an N-terminal CILP and a C-terminal homolog of NTPPHase, however, later studies identified no nucleotide pyrophosphatase phosphodiesterase (NPP) activity. The full-length and the N-terminal domain of this protein was shown to function as an IGF-1 antagonist. An allelic variant of this gene has been associated with lumbar disc disease. [provided by RefSeq, Sep 2010]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg8 T G 17: 85,003,421 (GRCm39) L417R probably damaging Het
Adrm1b G A 3: 92,335,664 (GRCm39) A346V probably damaging Het
Als2 A G 1: 59,231,049 (GRCm39) V854A probably benign Het
Bbox1 C T 2: 110,122,868 (GRCm39) W140* probably null Het
Ccdc28a A T 10: 18,092,016 (GRCm39) N110K probably benign Het
Chrna6 C T 8: 27,897,068 (GRCm39) E270K probably damaging Het
Ciz1 C A 2: 32,261,753 (GRCm39) A455E probably damaging Het
Csmd3 T G 15: 48,177,374 (GRCm39) H388P possibly damaging Het
Dnajc8 A G 4: 132,280,563 (GRCm39) probably benign Het
Dnase1 G T 16: 3,856,982 (GRCm39) C164F probably benign Het
Dync2h1 A T 9: 7,120,909 (GRCm39) I2126K possibly damaging Het
Epha4 G T 1: 77,491,686 (GRCm39) probably benign Het
Fer1l6 T C 15: 58,430,175 (GRCm39) C201R probably damaging Het
Fgf8 T C 19: 45,730,821 (GRCm39) Y68C probably benign Het
Gabrb1 A T 5: 72,266,071 (GRCm39) I243F probably damaging Het
Gpam A C 19: 55,067,692 (GRCm39) S484A probably damaging Het
Hectd2 T A 19: 36,596,151 (GRCm39) N745K probably damaging Het
Hspa13 T C 16: 75,563,651 (GRCm39) probably benign Het
Ints2 A G 11: 86,133,773 (GRCm39) F426L probably benign Het
Ism1 A G 2: 139,520,641 (GRCm39) T18A probably damaging Het
Itih2 T A 2: 10,107,616 (GRCm39) Q650L probably benign Het
Jmjd4 T C 11: 59,341,219 (GRCm39) F50S probably damaging Het
Kif5b T C 18: 6,226,883 (GRCm39) N125S probably benign Het
Lonp1 G C 17: 56,927,263 (GRCm39) A330G probably benign Het
Lrfn1 A G 7: 28,166,261 (GRCm39) I552V probably damaging Het
Mcph1 A G 8: 18,682,186 (GRCm39) E441G probably damaging Het
Mdn1 T A 4: 32,716,371 (GRCm39) H2144Q possibly damaging Het
Mms19 A G 19: 41,954,752 (GRCm39) S56P probably benign Het
Mrgprb3 A G 7: 48,293,116 (GRCm39) I145T probably benign Het
Myh11 G A 16: 14,062,719 (GRCm39) T287I probably damaging Het
Npas2 A G 1: 39,398,794 (GRCm39) T730A probably benign Het
Or4c108 T C 2: 88,803,810 (GRCm39) I142V probably benign Het
Or4c15b G A 2: 89,112,697 (GRCm39) P281L probably damaging Het
Pcdhgb1 A G 18: 37,815,222 (GRCm39) E571G possibly damaging Het
Pcx T A 19: 4,669,195 (GRCm39) V731E possibly damaging Het
Pgm2 T A 5: 64,269,381 (GRCm39) Y489* probably null Het
Rrp12 T C 19: 41,868,856 (GRCm39) T541A probably benign Het
Ryr3 C T 2: 112,731,329 (GRCm39) W660* probably null Het
Sertad2 T A 11: 20,598,061 (GRCm39) F86I possibly damaging Het
Slc11a1 G A 1: 74,420,065 (GRCm39) G191D probably damaging Het
Slc22a22 G T 15: 57,122,547 (GRCm39) F143L probably benign Het
Slc22a28 C T 19: 8,048,376 (GRCm39) V424I probably benign Het
Slc7a11 T G 3: 50,393,324 (GRCm39) K106N probably damaging Het
Smgc A T 15: 91,728,623 (GRCm39) D121V probably damaging Het
Sphk1 C T 11: 116,427,192 (GRCm39) probably benign Het
Spock3 A T 8: 63,597,040 (GRCm39) T118S probably benign Het
Stk17b G T 1: 53,810,943 (GRCm39) S54* probably null Het
Sycp2 A G 2: 178,023,711 (GRCm39) I435T probably benign Het
Tm2d3 G T 7: 65,351,366 (GRCm39) D207Y probably damaging Het
Top2b A T 14: 16,387,280 (GRCm38) N123Y probably damaging Het
Unc80 A G 1: 66,677,202 (GRCm39) T2044A possibly damaging Het
Usp6nl A G 2: 6,445,243 (GRCm39) S407G probably benign Het
Vmn1r195 G A 13: 22,462,559 (GRCm39) V10I probably benign Het
Zfp292 C T 4: 34,811,703 (GRCm39) R447H probably damaging Het
Other mutations in Cilp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01291:Cilp APN 9 65,186,265 (GRCm39) missense possibly damaging 0.80
IGL01340:Cilp APN 9 65,183,256 (GRCm39) missense probably damaging 0.99
IGL02330:Cilp APN 9 65,181,804 (GRCm39) splice site probably benign
IGL02729:Cilp APN 9 65,185,372 (GRCm39) missense possibly damaging 0.63
IGL02833:Cilp APN 9 65,185,206 (GRCm39) missense probably benign
IGL02961:Cilp APN 9 65,185,891 (GRCm39) missense possibly damaging 0.88
IGL03137:Cilp APN 9 65,185,450 (GRCm39) missense probably benign
IGL03211:Cilp APN 9 65,187,457 (GRCm39) missense probably benign
IGL03301:Cilp APN 9 65,187,499 (GRCm39) missense probably benign 0.01
IGL03341:Cilp APN 9 65,185,284 (GRCm39) missense probably benign 0.07
ANU05:Cilp UTSW 9 65,186,265 (GRCm39) missense possibly damaging 0.80
IGL02984:Cilp UTSW 9 65,187,412 (GRCm39) frame shift probably null
IGL02988:Cilp UTSW 9 65,187,412 (GRCm39) frame shift probably null
IGL02991:Cilp UTSW 9 65,187,412 (GRCm39) frame shift probably null
IGL03014:Cilp UTSW 9 65,187,412 (GRCm39) frame shift probably null
IGL03050:Cilp UTSW 9 65,187,412 (GRCm39) frame shift probably null
IGL03054:Cilp UTSW 9 65,187,412 (GRCm39) frame shift probably null
IGL03055:Cilp UTSW 9 65,187,412 (GRCm39) frame shift probably null
IGL03097:Cilp UTSW 9 65,187,412 (GRCm39) frame shift probably null
IGL03098:Cilp UTSW 9 65,187,412 (GRCm39) frame shift probably null
IGL03134:Cilp UTSW 9 65,187,412 (GRCm39) frame shift probably null
IGL03138:Cilp UTSW 9 65,187,412 (GRCm39) frame shift probably null
IGL03147:Cilp UTSW 9 65,187,412 (GRCm39) frame shift probably null
R0096:Cilp UTSW 9 65,180,952 (GRCm39) missense possibly damaging 0.57
R0219:Cilp UTSW 9 65,176,872 (GRCm39) missense possibly damaging 0.64
R0347:Cilp UTSW 9 65,187,435 (GRCm39) missense probably benign
R0699:Cilp UTSW 9 65,177,608 (GRCm39) missense probably damaging 1.00
R1148:Cilp UTSW 9 65,187,598 (GRCm39) missense possibly damaging 0.96
R1148:Cilp UTSW 9 65,187,598 (GRCm39) missense possibly damaging 0.96
R1155:Cilp UTSW 9 65,176,869 (GRCm39) missense probably benign 0.01
R1544:Cilp UTSW 9 65,183,127 (GRCm39) missense probably benign 0.03
R1584:Cilp UTSW 9 65,186,997 (GRCm39) missense probably damaging 1.00
R1586:Cilp UTSW 9 65,186,997 (GRCm39) missense probably damaging 1.00
R2055:Cilp UTSW 9 65,186,997 (GRCm39) missense probably damaging 1.00
R2069:Cilp UTSW 9 65,185,372 (GRCm39) missense possibly damaging 0.63
R2070:Cilp UTSW 9 65,186,377 (GRCm39) missense probably damaging 1.00
R2414:Cilp UTSW 9 65,181,927 (GRCm39) splice site probably benign
R4284:Cilp UTSW 9 65,185,560 (GRCm39) missense probably damaging 1.00
R4630:Cilp UTSW 9 65,187,162 (GRCm39) missense probably benign 0.17
R4632:Cilp UTSW 9 65,187,162 (GRCm39) missense probably benign 0.17
R4870:Cilp UTSW 9 65,186,980 (GRCm39) missense probably damaging 1.00
R4908:Cilp UTSW 9 65,185,302 (GRCm39) missense probably benign 0.17
R5568:Cilp UTSW 9 65,187,515 (GRCm39) missense probably benign 0.04
R5889:Cilp UTSW 9 65,187,625 (GRCm39) missense possibly damaging 0.93
R6645:Cilp UTSW 9 65,186,587 (GRCm39) missense possibly damaging 0.66
R6878:Cilp UTSW 9 65,187,129 (GRCm39) missense probably damaging 1.00
R6982:Cilp UTSW 9 65,187,087 (GRCm39) missense probably damaging 1.00
R7330:Cilp UTSW 9 65,187,527 (GRCm39) missense probably benign
R7967:Cilp UTSW 9 65,185,494 (GRCm39) missense possibly damaging 0.80
R8305:Cilp UTSW 9 65,186,286 (GRCm39) missense probably damaging 0.98
R8306:Cilp UTSW 9 65,186,286 (GRCm39) missense probably damaging 0.98
R8307:Cilp UTSW 9 65,186,286 (GRCm39) missense probably damaging 0.98
R8308:Cilp UTSW 9 65,186,286 (GRCm39) missense probably damaging 0.98
R8386:Cilp UTSW 9 65,186,286 (GRCm39) missense probably damaging 0.98
R8407:Cilp UTSW 9 65,181,898 (GRCm39) missense probably damaging 1.00
R8542:Cilp UTSW 9 65,185,405 (GRCm39) missense probably damaging 1.00
R8794:Cilp UTSW 9 65,186,535 (GRCm39) missense probably benign 0.26
R8951:Cilp UTSW 9 65,180,220 (GRCm39) missense probably benign 0.01
R9060:Cilp UTSW 9 65,186,302 (GRCm39) missense probably benign 0.01
R9257:Cilp UTSW 9 65,174,451 (GRCm39) missense possibly damaging 0.72
R9265:Cilp UTSW 9 65,187,333 (GRCm39) missense probably benign
R9358:Cilp UTSW 9 65,183,269 (GRCm39) missense probably benign
R9401:Cilp UTSW 9 65,185,381 (GRCm39) missense probably damaging 0.98
X0024:Cilp UTSW 9 65,186,925 (GRCm39) missense probably damaging 1.00
X0025:Cilp UTSW 9 65,186,980 (GRCm39) missense probably damaging 1.00
Z1088:Cilp UTSW 9 65,187,412 (GRCm39) frame shift probably null
Z1176:Cilp UTSW 9 65,187,412 (GRCm39) frame shift probably null
Z1177:Cilp UTSW 9 65,187,412 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- GGAGACACTTTTCCCCTTAGAAC -3'
(R):5'- GGGCTCCAGATTGATCACTG -3'

Sequencing Primer
(F):5'- GGACTTTAGAGATGAGGCCACTTCC -3'
(R):5'- GGCTCCAGATTGATCACTGAGACC -3'
Posted On 2016-11-08