Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02582:Cilp2'

299405

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cilp2

Ensembl Gene

ENSMUSG00000044006

Gene Name

cartilage intermediate layer protein 2

Synonyms

1110031K21Rik, CLIP-2

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02582

Quality Score

Status

Chromosome

Chromosomal Location

70333016-70340042 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 70333936 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 1021 (Q1021K)

Ref Sequence

ENSEMBL: ENSMUSP00000061544 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057831]

AlphaFold

D3Z7H8

Predicted Effect

probably damaging
Transcript: ENSMUST00000057831
AA Change: Q1021K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000061544
Gene: ENSMUSG00000044006
AA Change: Q1021K

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:Mucin2_WxxW	58	143	2.5e-22	PFAM
TSP1	149	197	1.33e-9	SMART
Pfam:CarboxypepD_reg	210	288	4.5e-10	PFAM
IGc2	305	367	2.52e-9	SMART
low complexity region	472	481	N/A	INTRINSIC
low complexity region	614	632	N/A	INTRINSIC
low complexity region	693	703	N/A	INTRINSIC
low complexity region	705	719	N/A	INTRINSIC
low complexity region	817	827	N/A	INTRINSIC
low complexity region	1041	1061	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acat1	T	A	9: 53,506,045 (GRCm39)	I92F	probably benign	Het
Actr3b	A	G	5: 26,037,411 (GRCm39)	I208V	probably benign	Het
Car12	T	C	9: 66,621,159 (GRCm39)	V10A	probably benign	Het
Ccdc171	C	A	4: 83,661,255 (GRCm39)	R1122S	probably damaging	Het
Cep97	A	G	16: 55,742,539 (GRCm39)	V136A	probably damaging	Het
Col24a1	C	A	3: 145,020,247 (GRCm39)	T206N	probably damaging	Het
Crebbp	A	T	16: 3,902,141 (GRCm39)	I2328K	possibly damaging	Het
Ctns	A	G	11: 73,087,478 (GRCm39)	F16S	probably benign	Het
Dbf4	T	C	5: 8,453,172 (GRCm39)	K276E	probably benign	Het
Dnase2b	T	A	3: 146,294,840 (GRCm39)	Q118L	probably benign	Het
Elf1	T	C	14: 79,773,819 (GRCm39)	L10P	probably damaging	Het
Exosc5	T	C	7: 25,364,988 (GRCm39)		probably null	Het
Fam163b	C	T	2: 27,003,570 (GRCm39)	C28Y	probably damaging	Het
Fam180a	G	T	6: 35,290,647 (GRCm39)	A112E	possibly damaging	Het
Fam3b	A	T	16: 97,272,391 (GRCm39)	Y89*	probably null	Het
Gcg	C	T	2: 62,308,922 (GRCm39)	W77*	probably null	Het
Gm17472	G	A	6: 42,957,832 (GRCm39)	V34I	possibly damaging	Het
Klhl23	T	A	2: 69,654,582 (GRCm39)	C151S	probably damaging	Het
Mdh1b	T	A	1: 63,758,756 (GRCm39)	I279F	probably benign	Het
Mfsd11	T	A	11: 116,764,701 (GRCm39)	I375N	probably damaging	Het
Mroh2b	T	A	15: 4,937,997 (GRCm39)	I206N	probably damaging	Het
Myo1b	T	C	1: 51,821,133 (GRCm39)	E456G	possibly damaging	Het
Nat8	G	A	6: 85,807,783 (GRCm39)	Q117*	probably null	Het
Nlrp4g	A	C	9: 124,349,764 (GRCm38)		noncoding transcript	Het
Nmt1	G	T	11: 102,955,625 (GRCm39)	G468C	possibly damaging	Het
Nobox	G	T	6: 43,281,973 (GRCm39)	Q367K	possibly damaging	Het
Nusap1	A	G	2: 119,479,470 (GRCm39)	*428W	probably null	Het
Or12j4	T	C	7: 140,046,560 (GRCm39)	F149L	probably benign	Het
Or4c126	G	A	2: 89,824,656 (GRCm39)	M306I	probably benign	Het
Pbp2	T	C	6: 135,287,147 (GRCm39)	I67V	probably benign	Het
Pcdhb8	T	G	18: 37,488,427 (GRCm39)	M35R	possibly damaging	Het
Pkp1	T	C	1: 135,817,664 (GRCm39)	E157G	probably damaging	Het
Pomgnt1	C	T	4: 116,015,747 (GRCm39)	L560F	probably damaging	Het
Prkcz	T	C	4: 155,355,713 (GRCm39)	T227A	probably damaging	Het
Ptprd	T	A	4: 75,865,361 (GRCm39)	R1446S	probably damaging	Het
Ptprq	T	C	10: 107,479,860 (GRCm39)	T1137A	probably benign	Het
Sec22c	T	C	9: 121,514,630 (GRCm39)	I153V	probably benign	Het
Slc30a5	C	T	13: 100,949,155 (GRCm39)		probably null	Het
Smcr8	T	C	11: 60,669,721 (GRCm39)	S290P	probably benign	Het
Stambpl1	T	G	19: 34,212,612 (GRCm39)	L261V	probably benign	Het
Stk38l	T	C	6: 146,668,321 (GRCm39)		probably null	Het
Themis	T	C	10: 28,637,543 (GRCm39)	F216L	probably benign	Het
Trmt1l	T	C	1: 151,309,536 (GRCm39)		probably benign	Het
Usp17lb	C	A	7: 104,489,937 (GRCm39)	C330F	probably damaging	Het
Vmn2r120	A	T	17: 57,831,724 (GRCm39)	L355H	probably damaging	Het
Zc3h7b	T	A	15: 81,653,341 (GRCm39)	C82S	probably benign	Het

Other mutations in Cilp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01483:Cilp2	APN	8	70,335,496 (GRCm39)	missense	probably damaging	0.96
IGL01538:Cilp2	APN	8	70,333,854 (GRCm39)	missense	probably benign	0.13
IGL02063:Cilp2	APN	8	70,335,515 (GRCm39)	missense	probably damaging	1.00
IGL02892:Cilp2	APN	8	70,336,970 (GRCm39)	missense	probably benign	0.02
R0308:Cilp2	UTSW	8	70,335,643 (GRCm39)	missense	probably benign	0.00
R0371:Cilp2	UTSW	8	70,334,256 (GRCm39)	missense	probably damaging	1.00
R0413:Cilp2	UTSW	8	70,335,643 (GRCm39)	missense	probably benign	0.00
R0414:Cilp2	UTSW	8	70,335,643 (GRCm39)	missense	probably benign	0.00
R0470:Cilp2	UTSW	8	70,338,055 (GRCm39)	missense	possibly damaging	0.87
R0838:Cilp2	UTSW	8	70,334,369 (GRCm39)	missense	probably benign	0.04
R0842:Cilp2	UTSW	8	70,335,768 (GRCm39)	missense	probably damaging	1.00
R1807:Cilp2	UTSW	8	70,334,844 (GRCm39)	missense	probably damaging	1.00
R1864:Cilp2	UTSW	8	70,333,973 (GRCm39)	missense	probably damaging	1.00
R2010:Cilp2	UTSW	8	70,334,344 (GRCm39)	missense	probably damaging	1.00
R2104:Cilp2	UTSW	8	70,335,442 (GRCm39)	nonsense	probably null
R2339:Cilp2	UTSW	8	70,335,544 (GRCm39)	missense	probably benign	0.04
R4572:Cilp2	UTSW	8	70,335,060 (GRCm39)	missense	probably damaging	1.00
R5225:Cilp2	UTSW	8	70,336,015 (GRCm39)	missense	probably damaging	1.00
R5923:Cilp2	UTSW	8	70,335,525 (GRCm39)	missense	probably damaging	1.00
R6113:Cilp2	UTSW	8	70,335,009 (GRCm39)	missense	probably benign	0.00
R6958:Cilp2	UTSW	8	70,335,190 (GRCm39)	missense	probably benign	0.01
R7108:Cilp2	UTSW	8	70,333,779 (GRCm39)	missense	probably damaging	1.00
R7454:Cilp2	UTSW	8	70,336,040 (GRCm39)	missense	probably damaging	1.00
R7455:Cilp2	UTSW	8	70,333,721 (GRCm39)	missense	probably damaging	1.00
R7598:Cilp2	UTSW	8	70,338,682 (GRCm39)	missense	probably benign	0.29
R7736:Cilp2	UTSW	8	70,334,071 (GRCm39)	missense	probably damaging	1.00
R7781:Cilp2	UTSW	8	70,334,997 (GRCm39)	missense	possibly damaging	0.81
R8924:Cilp2	UTSW	8	70,339,108 (GRCm39)	missense	probably damaging	0.99
R9444:Cilp2	UTSW	8	70,335,546 (GRCm39)	missense	probably damaging	1.00
Z1088:Cilp2	UTSW	8	70,338,060 (GRCm39)	missense	possibly damaging	0.94
Z1177:Cilp2	UTSW	8	70,337,196 (GRCm39)	nonsense	probably null
Z1177:Cilp2	UTSW	8	70,337,192 (GRCm39)	missense	probably damaging	1.00
Z1177:Cilp2	UTSW	8	70,335,458 (GRCm39)	missense	probably damaging	0.99

Posted On

2015-04-16