Incidental Mutation 'R5889:Cilp'
ID 456226
Institutional Source Beutler Lab
Gene Symbol Cilp
Ensembl Gene ENSMUSG00000042254
Gene Name cartilage intermediate layer protein, nucleotide pyrophosphohydrolase
Synonyms C130036G17Rik
MMRRC Submission 044090-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5889 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 65172462-65187887 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 65187625 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Aspartic acid at position 1240 (A1240D)
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: A1240D

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000036631
Gene: ENSMUSG00000042254
AA Change: A1240D

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 0.1795 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.3%
Validation Efficiency 100% (63/63)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930568D16Rik T C 2: 35,244,461 (GRCm39) E297G probably damaging Het
Astn1 C T 1: 158,427,950 (GRCm39) P707L possibly damaging Het
Cep290 T C 10: 100,334,936 (GRCm39) S319P possibly damaging Het
Chrna4 A C 2: 180,670,451 (GRCm39) L435W probably damaging Het
Col17a1 A G 19: 47,637,511 (GRCm39) F1249S possibly damaging Het
Creb3l3 T C 10: 80,928,367 (GRCm39) probably benign Het
Cyp4f40 C A 17: 32,894,731 (GRCm39) T432N probably benign Het
Dsg1c T G 18: 20,416,658 (GRCm39) I853R possibly damaging Het
Ebna1bp2 T A 4: 118,478,620 (GRCm39) D34E probably damaging Het
Edc4 C T 8: 106,614,654 (GRCm39) T112I possibly damaging Het
Enpep T A 3: 129,106,227 (GRCm39) Y333F probably damaging Het
Exoc6 A G 19: 37,570,693 (GRCm39) H291R probably damaging Het
Fbln5 G T 12: 101,731,485 (GRCm39) N236K probably damaging Het
Fndc8 A T 11: 82,789,555 (GRCm39) T238S probably damaging Het
Frem3 T C 8: 81,340,917 (GRCm39) V1070A probably damaging Het
Gabra4 A T 5: 71,729,234 (GRCm39) N515K possibly damaging Het
Gemin5 A G 11: 58,013,181 (GRCm39) V1422A possibly damaging Het
Gm10118 A G 10: 63,762,890 (GRCm39) probably benign Het
Grm5 A G 7: 87,252,281 (GRCm39) D177G probably damaging Het
Gtf2h4 G A 17: 35,981,792 (GRCm39) P147L possibly damaging Het
Hgsnat T C 8: 26,453,395 (GRCm39) D265G probably damaging Het
Hsd17b4 T A 18: 50,310,276 (GRCm39) L513Q probably damaging Het
Hsd17b7 A T 1: 169,783,487 (GRCm39) M307K probably benign Het
Hspa5 T C 2: 34,664,629 (GRCm39) V361A probably damaging Het
Iqgap2 A G 13: 95,768,550 (GRCm39) V1450A probably benign Het
Itpr3 A G 17: 27,334,039 (GRCm39) E2037G probably damaging Het
Itprid2 T A 2: 79,488,072 (GRCm39) D718E probably damaging Het
Lama5 T C 2: 179,835,467 (GRCm39) probably benign Het
Manba G T 3: 135,230,359 (GRCm39) G311* probably null Het
Mettl24 T A 10: 40,622,486 (GRCm39) V236E probably benign Het
Myh3 A G 11: 66,977,201 (GRCm39) D310G probably damaging Het
Ncoa4 A T 14: 31,888,616 (GRCm39) probably benign Het
Nop56 G T 2: 130,117,902 (GRCm39) R126L probably damaging Het
Nos3 C A 5: 24,573,775 (GRCm39) probably benign Het
Or13c7b T C 4: 43,820,492 (GRCm39) M290V possibly damaging Het
Pcdhga3 T A 18: 37,809,662 (GRCm39) V705D probably damaging Het
Prom2 C T 2: 127,371,331 (GRCm39) A776T possibly damaging Het
Prss48 A G 3: 85,905,492 (GRCm39) I127T probably damaging Het
Rtca T C 3: 116,293,232 (GRCm39) Y193C possibly damaging Het
Samd9l T C 6: 3,376,460 (GRCm39) Y267C probably damaging Het
Scube3 A G 17: 28,379,887 (GRCm39) R272G possibly damaging Het
Sprr1a G T 3: 92,391,951 (GRCm39) H17N probably benign Het
Stard3 G C 11: 98,266,361 (GRCm39) Q120H probably benign Het
Supt6 A G 11: 78,103,574 (GRCm39) I1377T probably damaging Het
Svop A T 5: 114,203,692 (GRCm39) S30T probably benign Het
Syne2 T A 12: 76,119,026 (GRCm39) L5882* probably null Het
Tanc2 G T 11: 105,812,633 (GRCm39) R1359L probably benign Het
Tmc7 A C 7: 118,165,549 (GRCm39) L55R probably benign Het
Trappc11 G A 8: 47,972,613 (GRCm39) A320V probably benign Het
Ttll8 G C 15: 88,818,142 (GRCm39) P178A probably damaging Het
Ttn T C 2: 76,560,993 (GRCm39) E20809G probably damaging Het
Tubb2a A T 13: 34,259,451 (GRCm39) V113E possibly damaging Het
Ube2d1 A T 10: 71,095,699 (GRCm39) probably benign Het
Usp48 T C 4: 137,343,723 (GRCm39) V452A probably benign Het
Vldlr T A 19: 27,217,064 (GRCm39) I39N probably damaging Het
Wbp1l C T 19: 46,642,619 (GRCm39) R191* probably null Het
Zyg11b C T 4: 108,094,577 (GRCm39) W669* probably null 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
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'- TTGCTCAACAACCTCTGAGC -3'
(R):5'- GGACTGTGACAGAGACTTTGC -3'

Sequencing Primer
(F):5'- ACCTCTGAGCAACTAAGTCTTGTGG -3'
(R):5'- ACATCTTGTGGAACATGGCC -3'
Posted On 2017-02-15