Mutagenetix > Incidental Mutation

Incidental Mutation 'R5568:Cilp'

437036

Institutional Source

Beutler Lab

Gene Symbol

Cilp

Ensembl Gene

ENSMUSG00000042254

Gene Name

cartilage intermediate layer protein, nucleotide pyrophosphohydrolase

Synonyms

C130036G17Rik

MMRRC Submission

043125-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5568 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

65172462-65187887 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 65187515 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 1203 (R1203S)

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: R1203S

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000036631
Gene: ENSMUSG00000042254
AA Change: R1203S

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.0%

Validation Efficiency

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	T	C	4: 144,349,364 (GRCm39)	V207A	probably benign	Het
Abcc10	C	A	17: 46,614,834 (GRCm39)		probably null	Het
Abcc9	A	C	6: 142,634,742 (GRCm39)	V174G	possibly damaging	Het
Abl1	C	T	2: 31,669,086 (GRCm39)	A155V	probably damaging	Het
Aco2	T	A	15: 81,787,787 (GRCm39)	D212E	probably damaging	Het
Adam26b	A	T	8: 43,973,529 (GRCm39)	M491K	probably benign	Het
Anapc5	G	A	5: 122,929,988 (GRCm39)		probably benign	Het
Atf7	A	G	15: 102,471,757 (GRCm39)	I46T	probably damaging	Het
Cacna1b	A	G	2: 24,497,612 (GRCm39)	S2100P	probably damaging	Het
Capn5	T	A	7: 97,775,137 (GRCm39)	D501V	probably damaging	Het
Cc2d2a	A	G	5: 43,866,433 (GRCm39)	M748V	probably damaging	Het
Cd300c2	T	C	11: 114,891,662 (GRCm39)	T71A	probably damaging	Het
Chmp2a	T	C	7: 12,767,758 (GRCm39)	M56V	probably benign	Het
Clp1	T	A	2: 84,556,322 (GRCm39)	K53*	probably null	Het
Crhbp	T	A	13: 95,578,737 (GRCm39)	D128V	probably damaging	Het
Crispld1	T	A	1: 17,820,495 (GRCm39)	I292N	probably benign	Het
Cyp2c68	A	T	19: 39,677,526 (GRCm39)	I488N	probably benign	Het
Cyp3a57	A	T	5: 145,307,456 (GRCm39)	M149L	probably benign	Het
Ddx24	T	A	12: 103,390,547 (GRCm39)	Q59L	possibly damaging	Het
Ddx27	A	G	2: 166,871,439 (GRCm39)	H512R	possibly damaging	Het
Dlgap4	T	A	2: 156,604,821 (GRCm39)	*993K	probably null	Het
Dmxl2	A	T	9: 54,330,643 (GRCm39)		probably null	Het
Dus4l	A	T	12: 31,696,712 (GRCm39)	F88L	probably damaging	Het
Ep400	A	T	5: 110,904,071 (GRCm39)	V176E	probably damaging	Het
Fat3	T	A	9: 16,288,219 (GRCm39)	K435*	probably null	Het
Fsip2	T	C	2: 82,816,908 (GRCm39)	C4214R	probably benign	Het
Garin5a	T	G	7: 44,150,428 (GRCm39)	S207A	probably damaging	Het
Gfral	T	C	9: 76,072,087 (GRCm39)	*394W	probably null	Het
Glis1	T	C	4: 107,476,832 (GRCm39)	S518P	probably damaging	Het
H2-T10	A	G	17: 36,430,079 (GRCm39)		probably null	Het
Hsbp1l1	T	C	18: 80,278,679 (GRCm39)	T35A	possibly damaging	Het
Ighv5-12	A	G	12: 113,665,837 (GRCm39)	F87S	probably damaging	Het
Ints13	A	C	6: 146,477,855 (GRCm39)	D31E	probably damaging	Het
Kbtbd12	C	T	6: 88,595,609 (GRCm39)	D74N	probably damaging	Het
Klrb1c	A	G	6: 128,765,877 (GRCm39)		probably benign	Het
Kmt5b	A	T	19: 3,836,538 (GRCm39)	H25L	probably benign	Het
Krt28	A	T	11: 99,262,210 (GRCm39)	M260K	probably damaging	Het
Krt79	A	G	15: 101,838,220 (GRCm39)	S512P	probably damaging	Het
Lama1	A	T	17: 68,075,293 (GRCm39)		probably null	Het
Maneal	T	C	4: 124,750,937 (GRCm39)	E273G	possibly damaging	Het
Map4k3	T	A	17: 80,971,427 (GRCm39)	Y80F	possibly damaging	Het
Mbd6	A	G	10: 127,119,297 (GRCm39)	V946A	possibly damaging	Het
Mfsd14b	A	T	13: 65,219,936 (GRCm39)		probably null	Het
Mrpl46	C	G	7: 78,430,242 (GRCm39)	W176S	probably damaging	Het
Muc19	A	G	15: 91,768,468 (GRCm39)		noncoding transcript	Het
Mup3	T	G	4: 62,002,809 (GRCm39)	E184A	possibly damaging	Het
Myo9a	A	G	9: 59,781,911 (GRCm39)	H1699R	probably benign	Het
Ndrg2	T	A	14: 52,144,420 (GRCm39)	T269S	probably damaging	Het
Nfatc1	A	T	18: 80,693,037 (GRCm39)	V688D	probably benign	Het
Ninj2	T	C	6: 120,175,670 (GRCm39)	I101T	probably benign	Het
Nlrp10	T	A	7: 108,523,468 (GRCm39)	M671L	probably benign	Het
Npsr1	T	A	9: 24,224,510 (GRCm39)	L296I	probably damaging	Het
Or10d5	A	G	9: 39,861,983 (GRCm39)	L28P	probably benign	Het
Or52r1b	G	T	7: 102,691,517 (GRCm39)	R272L	possibly damaging	Het
Pacsin1	T	A	17: 27,927,022 (GRCm39)	D242E	probably damaging	Het
Pcdh1	T	C	18: 38,330,420 (GRCm39)	Y861C	probably damaging	Het
Pcdha12	T	C	18: 37,153,443 (GRCm39)	L54P	probably damaging	Het
Pcdhb18	T	A	18: 37,624,853 (GRCm39)	S728T	probably benign	Het
Phyhd1	T	A	2: 30,167,022 (GRCm39)	H108Q	probably damaging	Het
Plcb1	A	T	2: 135,212,513 (GRCm39)	I1035F	probably damaging	Het
Plcl1	T	C	1: 55,735,309 (GRCm39)	S217P	possibly damaging	Het
Plppr2	G	A	9: 21,852,425 (GRCm39)	R103H	probably damaging	Het
Plxnb2	G	A	15: 89,041,638 (GRCm39)	T1722I	probably damaging	Het
Pole3	T	C	4: 62,442,668 (GRCm39)	N53S	probably damaging	Het
Ptk6	A	T	2: 180,841,488 (GRCm39)	N140K	possibly damaging	Het
Rab12	C	T	17: 66,804,418 (GRCm39)	R180H	probably damaging	Het
Rab36	G	T	10: 74,888,311 (GRCm39)	V252L	probably benign	Het
Ranbp3	T	C	17: 57,008,543 (GRCm39)		probably null	Het
Rapgef2	A	G	3: 79,011,308 (GRCm39)	L259P	probably damaging	Het
Rigi	T	A	4: 40,222,140 (GRCm39)	M380L	probably benign	Het
Scaf4	GGCTGCTGCTGCTGCTGCTGCTGCTG	GGCTGCTGCTGCTGCTGCTGCTG	16: 90,026,745 (GRCm39)		probably benign	Het
Scd2	T	C	19: 44,288,142 (GRCm39)	F178S	probably damaging	Het
Shmt2	A	G	10: 127,356,250 (GRCm39)	S87P	probably damaging	Het
Slf1	T	A	13: 77,194,823 (GRCm39)	D834V	probably damaging	Het
Sorcs2	A	C	5: 36,203,874 (GRCm39)	Y540*	probably null	Het
Srpk2	T	A	5: 23,730,697 (GRCm39)	Q274L	possibly damaging	Het
Stradb	T	A	1: 59,031,901 (GRCm39)	M271K	possibly damaging	Het
Tfec	T	A	6: 16,867,592 (GRCm39)	Q16L	possibly damaging	Het
Tfg	T	C	16: 56,521,450 (GRCm39)	T63A	probably benign	Het
Ticrr	G	A	7: 79,339,715 (GRCm39)		probably null	Het
Ticrr	T	A	7: 79,345,044 (GRCm39)	C1636*	probably null	Het
Tln2	A	G	9: 67,219,147 (GRCm39)	I266T	probably damaging	Het
Tmcc1	G	C	6: 115,999,071 (GRCm39)	R323G	possibly damaging	Het
Tnnt3	A	G	7: 142,065,777 (GRCm39)	E138G	probably damaging	Het
Tpm2	C	A	4: 43,522,692 (GRCm39)	E75*	probably null	Het
Ttn	T	G	2: 76,580,922 (GRCm39)	T23324P	probably damaging	Het
Ubr4	T	G	4: 139,119,349 (GRCm39)	L176R	probably damaging	Het
Uhrf2	G	T	19: 30,016,488 (GRCm39)	D46Y	probably damaging	Het
Ulbp1	A	C	10: 7,423,281 (GRCm39)	S21A	unknown	Het
Usp17lb	C	T	7: 104,490,415 (GRCm39)	G170R	probably damaging	Het
Utp15	T	C	13: 98,394,433 (GRCm39)	N153S	probably benign	Het
Vcan	T	A	13: 89,836,790 (GRCm39)	E2918V	probably damaging	Het
Vmn1r174	T	A	7: 23,453,919 (GRCm39)	I195K	probably damaging	Het
Vmn1r76	C	T	7: 11,665,062 (GRCm39)	V16I	probably benign	Het
Xdh	T	C	17: 74,250,880 (GRCm39)	D24G	possibly damaging	Het
Xylb	T	A	9: 119,190,198 (GRCm39)	H68Q	probably benign	Het

Other mutations in Cilp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- GCCTTCCAGTACCTCCAAAG -3'
(R):5'- GCAGACGTTTACCAATTCCTTTTG -3'

Sequencing Primer
(F):5'- GTCCCCAGCTACAGGCAC -3'
(R):5'- GTGGCAATCAGCATCATG -3'

Posted On

2016-10-24