Incidental Mutation 'R8951:Cilp'
ID 681652
Institutional Source Beutler Lab
Gene Symbol Cilp
Ensembl Gene ENSMUSG00000042254
Gene Name cartilage intermediate layer protein, nucleotide pyrophosphohydrolase
Synonyms C130036G17Rik
MMRRC Submission 068788-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8951 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 65172462-65187887 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 65180220 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 187 (E187G)
Ref Sequence ENSEMBL: ENSMUSP00000036631 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048762] [ENSMUST00000141382]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000048762
AA Change: E187G

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000036631
Gene: ENSMUSG00000042254
AA Change: E187G

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 99% (73/74)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam11 T C 11: 102,665,193 (GRCm39) probably null Het
Adcy6 A T 15: 98,502,140 (GRCm39) V158E possibly damaging Het
Adgrg3 T C 8: 95,761,362 (GRCm39) probably benign Het
Arsb T C 13: 93,944,124 (GRCm39) S272P probably damaging Het
Asb10 A C 5: 24,742,952 (GRCm39) C260W probably damaging Het
Atp13a1 A G 8: 70,246,484 (GRCm39) D158G probably benign Het
Bcl6 T C 16: 23,793,704 (GRCm39) E81G probably damaging Het
C7 A T 15: 5,032,231 (GRCm39) V660E probably benign Het
Cacna1c T C 6: 118,590,300 (GRCm39) D1401G probably damaging Het
Ccp110 A G 7: 118,321,015 (GRCm39) I223M possibly damaging Het
Cmc2 T C 8: 117,637,904 (GRCm39) N15S probably damaging Het
Cnnm3 T A 1: 36,558,019 (GRCm39) probably benign Het
Col27a1 T G 4: 63,191,311 (GRCm39) M828R possibly damaging Het
Cpm C T 10: 117,511,938 (GRCm39) P294L probably damaging Het
Cpt1a G C 19: 3,412,211 (GRCm39) A228P probably benign Het
Ctbp1 A G 5: 33,416,679 (GRCm39) V43A probably damaging Het
Cylc2 A T 4: 51,229,469 (GRCm39) E270D unknown Het
Cyp46a1 A C 12: 108,312,348 (GRCm39) R119S possibly damaging Het
Dctn3 A T 4: 41,719,845 (GRCm39) I87N probably damaging Het
Dhdds C T 4: 133,719,857 (GRCm39) V25I possibly damaging Het
Entpd1 A C 19: 40,727,319 (GRCm39) N489T probably damaging Het
Fam110a T C 2: 151,812,461 (GRCm39) D103G probably damaging Het
Foxo6 T A 4: 120,125,133 (GRCm39) Q554L unknown Het
Gbp5 T A 3: 142,206,481 (GRCm39) M55K probably damaging Het
Gm20730 T C 6: 43,058,638 (GRCm39) Y58C possibly damaging Het
Grip1 T A 10: 119,874,509 (GRCm39) S679T possibly damaging Het
Gtdc1 A C 2: 44,679,030 (GRCm39) probably benign Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Igha T A 12: 113,222,684 (GRCm39) N246Y Het
Ighg2b T A 12: 113,270,926 (GRCm39) T104S probably benign Het
Ighmbp2 C T 19: 3,318,726 (GRCm39) W450* probably null Het
Ipo11 T C 13: 106,978,690 (GRCm39) E839G possibly damaging Het
Iqce T C 5: 140,675,578 (GRCm39) D207G probably damaging Het
Irgm2 T C 11: 58,110,408 (GRCm39) V45A possibly damaging Het
Itga1 C T 13: 115,107,027 (GRCm39) W1021* probably null Het
Itga3 T C 11: 94,944,911 (GRCm39) Y799C probably damaging Het
Klf1 T C 8: 85,629,912 (GRCm39) S246P possibly damaging Het
Kras A T 6: 145,166,338 (GRCm39) M188K probably benign Het
Lacc1 C T 14: 77,272,613 (GRCm39) C61Y probably benign Het
Lect2 T A 13: 56,690,822 (GRCm39) probably benign Het
Leng9 G A 7: 4,152,782 (GRCm39) probably benign Het
Lhx9 A G 1: 138,769,704 (GRCm39) C6R probably damaging Het
Matn3 T A 12: 9,002,172 (GRCm39) I128K probably damaging Het
Ndst1 T C 18: 60,830,196 (GRCm39) E638G probably benign Het
Nell2 A T 15: 95,139,424 (GRCm39) C603S probably damaging Het
Nicn1 C T 9: 108,171,708 (GRCm39) R163C possibly damaging Het
Oas1h T G 5: 121,000,657 (GRCm39) F89C probably damaging Het
Or4d10c A T 19: 12,066,056 (GRCm39) Y33* probably null Het
Or52l1 A G 7: 104,829,638 (GRCm39) V294A probably damaging Het
Or5b101 T A 19: 13,004,827 (GRCm39) S289C Het
Or5d45 C T 2: 88,153,975 (GRCm39) G25S probably damaging Het
P2ry2 G A 7: 100,647,228 (GRCm39) T359I probably damaging Het
Pbxip1 T A 3: 89,352,864 (GRCm39) V170E probably benign Het
Pcdhb20 T A 18: 37,639,146 (GRCm39) N557K probably damaging Het
Pdilt A G 7: 119,099,611 (GRCm39) V219A possibly damaging Het
Plec G T 15: 76,067,310 (GRCm39) S1149* probably null Het
Pnkp C T 7: 44,507,617 (GRCm39) T61I possibly damaging Het
Polr1f G T 12: 33,487,867 (GRCm39) E261* probably null Het
Prss56 T A 1: 87,115,749 (GRCm39) V541D probably damaging Het
Rab40c A G 17: 26,138,407 (GRCm39) V25A probably damaging Het
Rgs8 A T 1: 153,546,567 (GRCm39) H22L probably damaging Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Slc1a2 T C 2: 102,586,353 (GRCm39) V319A probably damaging Het
Sp140l2 G A 1: 85,224,671 (GRCm39) S288L possibly damaging Het
Spata18 A T 5: 73,828,572 (GRCm39) I378F probably damaging Het
Speer1i T A 5: 11,092,799 (GRCm39) Y79* probably null Het
Stag1 T C 9: 100,762,854 (GRCm39) V485A probably damaging Het
Tas2r104 T A 6: 131,662,569 (GRCm39) I47F probably damaging Het
Thumpd1 A T 7: 119,317,471 (GRCm39) H143Q possibly damaging Het
Tmem231 T C 8: 112,640,697 (GRCm39) Q272R probably damaging Het
Tnfaip2 A G 12: 111,412,310 (GRCm39) D237G probably benign Het
Tox3 T C 8: 91,074,543 (GRCm39) D12G probably benign Het
Vmn1r1 A G 1: 181,985,309 (GRCm39) S119P probably damaging Het
Xrn1 A G 9: 95,870,999 (GRCm39) E608G probably benign Het
Zfp395 T C 14: 65,629,528 (GRCm39) C281R 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
R5621:Cilp UTSW 9 65,186,073 (GRCm39) missense possibly damaging 0.71
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
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'- TTGTGCTCCCTCACCAGAGAAG -3'
(R):5'- TCTCTTCTCAGAGCAAATGGC -3'

Sequencing Primer
(F):5'- AACCTTGCAGTCAGACTTCCTGG -3'
(R):5'- CTCAGAGCAAATGGCATGAGTG -3'
Posted On 2021-08-31