Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01538:Cilp2'

90072

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 #

IGL01538

Quality Score

Status

Chromosome

Chromosomal Location

70333016-70340042 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70333854 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1048 (D1048G)

Ref Sequence

ENSEMBL: ENSMUSP00000061544 (fasta)

Gene Model

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

AlphaFold

D3Z7H8

Predicted Effect

probably benign
Transcript: ENSMUST00000057831
AA Change: D1048G

PolyPhen 2 Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000061544
Gene: ENSMUSG00000044006
AA Change: D1048G

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930533K18Rik	A	G	10: 70,708,032 (GRCm39)		noncoding transcript	Het
Abca3	G	T	17: 24,595,447 (GRCm39)	C328F	possibly damaging	Het
Aldh5a1	T	C	13: 25,102,495 (GRCm39)	N323D	possibly damaging	Het
Atp5f1c	T	C	2: 10,073,477 (GRCm39)	Y32C	probably damaging	Het
Capn3	T	G	2: 120,332,667 (GRCm39)		probably null	Het
Ccdc113	C	A	8: 96,277,866 (GRCm39)	D275E	probably benign	Het
Ccdc40	T	A	11: 119,133,545 (GRCm39)	F562I	possibly damaging	Het
Ccn6	A	G	10: 39,034,306 (GRCm39)	Y99H	probably damaging	Het
Cd96	T	C	16: 45,929,490 (GRCm39)	T152A	possibly damaging	Het
Cdh20	T	A	1: 109,988,870 (GRCm39)	D257E	probably damaging	Het
Clrn2	T	G	5: 45,617,408 (GRCm39)	L93R	probably damaging	Het
Crat	C	A	2: 30,299,978 (GRCm39)	G134V	probably damaging	Het
Dis3	A	T	14: 99,335,181 (GRCm39)	N140K	probably benign	Het
Dmxl2	T	A	9: 54,352,660 (GRCm39)		probably benign	Het
Dus1l	T	A	11: 120,683,905 (GRCm39)	Q181L	probably damaging	Het
Ece1	A	G	4: 137,675,855 (GRCm39)	T410A	probably benign	Het
Gcc1	T	A	6: 28,421,047 (GRCm39)	H90L	probably damaging	Het
Gpr152	T	A	19: 4,192,951 (GRCm39)	V164E	probably damaging	Het
Grik3	A	C	4: 125,587,829 (GRCm39)	I650L	possibly damaging	Het
Gvin3	T	C	7: 106,201,744 (GRCm39)	D500G	probably damaging	Het
Gzmm	A	T	10: 79,530,896 (GRCm39)	T233S	probably benign	Het
H2-Q4	T	A	17: 35,602,288 (GRCm39)	V341D	probably benign	Het
Igsf21	A	G	4: 139,755,029 (GRCm39)		probably benign	Het
Kmt2d	T	C	15: 98,758,538 (GRCm39)		probably benign	Het
Kntc1	T	G	5: 123,919,721 (GRCm39)	V864G	probably damaging	Het
Lnx1	T	C	5: 74,780,816 (GRCm39)	E235G	possibly damaging	Het
Man2b1	G	T	8: 85,824,059 (GRCm39)	K985N	probably benign	Het
Map4k1	C	A	7: 28,701,044 (GRCm39)	P670Q	probably damaging	Het
Mapk8ip1	C	A	2: 92,219,319 (GRCm39)		probably null	Het
Mettl16	T	A	11: 74,683,093 (GRCm39)	Y178*	probably null	Het
Mrpl11	T	A	19: 5,013,449 (GRCm39)		probably null	Het
Nup85	T	C	11: 115,460,540 (GRCm39)	S140P	possibly damaging	Het
Or14c44	T	C	7: 86,062,167 (GRCm39)	L199P	possibly damaging	Het
Or1j20	T	C	2: 36,760,532 (GRCm39)		probably benign	Het
Or4k51	T	A	2: 111,585,350 (GRCm39)	V252E	probably damaging	Het
Or5w16	T	C	2: 87,576,942 (GRCm39)	V134A	probably benign	Het
Pcdhb2	T	A	18: 37,428,375 (GRCm39)	L116*	probably null	Het
Pdcd7	C	A	9: 65,253,985 (GRCm39)	R188S	probably damaging	Het
Pdk2	T	C	11: 94,918,111 (GRCm39)	Y374C	probably damaging	Het
Ppp1r12a	G	T	10: 108,069,882 (GRCm39)	D224Y	probably damaging	Het
Ppp2r2d	T	A	7: 138,478,364 (GRCm39)	Y169N	probably damaging	Het
Prcp	A	C	7: 92,559,421 (GRCm39)	T162P	probably benign	Het
Prkd1	A	G	12: 50,388,925 (GRCm39)	S873P	probably benign	Het
Ptpn2	T	C	18: 67,814,623 (GRCm39)	T129A	probably benign	Het
Rtkn	G	A	6: 83,123,042 (GRCm39)	R68H	probably damaging	Het
Sall4	C	T	2: 168,597,776 (GRCm39)	D355N	probably damaging	Het
Scn7a	A	G	2: 66,534,196 (GRCm39)	V493A	probably benign	Het
Sema4b	G	A	7: 79,865,444 (GRCm39)	A140T	probably damaging	Het
Shisa6	C	A	11: 66,108,654 (GRCm39)	G408C	possibly damaging	Het
Slc7a9	G	T	7: 35,153,589 (GRCm39)	V197F	probably damaging	Het
Spata2	A	T	2: 167,326,071 (GRCm39)	D249E	probably damaging	Het
Stk36	T	A	1: 74,672,797 (GRCm39)	V1013E	probably benign	Het
Tcp10a	T	C	17: 7,610,899 (GRCm39)	V336A	probably damaging	Het
Tfb2m	A	T	1: 179,365,409 (GRCm39)	V185D	possibly damaging	Het
Tgm7	T	A	2: 120,937,396 (GRCm39)	Y76F	probably benign	Het
Tph1	T	C	7: 46,303,177 (GRCm39)	Y267C	probably damaging	Het
Trgv1	G	A	13: 19,520,740 (GRCm39)		probably benign	Het
Ube2d1	A	G	10: 71,091,656 (GRCm39)		probably benign	Het
Vmn2r12	C	A	5: 109,239,716 (GRCm39)	R282S	probably damaging	Het
Vps4a	A	G	8: 107,763,556 (GRCm39)	D72G	probably benign	Het
Wipf2	T	A	11: 98,781,629 (GRCm39)	V56D	possibly damaging	Het
Zfp750	C	A	11: 121,402,991 (GRCm39)	V586L	probably benign	Het
Zfp831	A	G	2: 174,486,399 (GRCm39)	E358G	possibly damaging	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
IGL02063:Cilp2	APN	8	70,335,515 (GRCm39)	missense	probably damaging	1.00
IGL02582:Cilp2	APN	8	70,333,936 (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

2013-12-03