Mutagenetix > Incidental Mutations

Incidental Mutation 'R0842:Cilp2'

77216

Institutional Source

Beutler Lab

Gene Symbol

Cilp2

Ensembl Gene

ENSMUSG00000044006

Gene Name

cartilage intermediate layer protein 2

Synonyms

1110031K21Rik, CLIP-2

MMRRC Submission

039021-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0842 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

69880369-69887687 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 69883118 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 410 (Y410C)

Ref Sequence

ENSEMBL: ENSMUSP00000061544 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057831] [ENSMUST00000152938] [ENSMUST00000180068]

Predicted Effect

probably damaging
Transcript: ENSMUST00000057831
AA Change: Y410C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000061544
Gene: ENSMUSG00000044006
AA Change: Y410C

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152456

Predicted Effect

probably benign
Transcript: ENSMUST00000152938

SMART Domains

Protein: ENSMUSP00000118931
Gene: ENSMUSG00000048967

Domain	Start	End	E-Value	Type
low complexity region	1	12	N/A	INTRINSIC
Pfam:YjeF_N	17	187	5.1e-31	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000180068

SMART Domains

Protein: ENSMUSP00000136145
Gene: ENSMUSG00000048967

Domain	Start	End	E-Value	Type
Pfam:YjeF_N	2	159	8.8e-24	PFAM

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.3%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Angptl8	C	A	9: 21,835,676	Y53*	probably null	Het
Apbb1ip	G	A	2: 22,867,666	R432Q	possibly damaging	Het
BC005561	T	A	5: 104,519,200	N529K	possibly damaging	Het
Catsperb	A	T	12: 101,463,048	Q160L	probably damaging	Het
Cntnap5a	G	A	1: 116,442,223	G857S	probably damaging	Het
Colca2	T	C	9: 51,272,368	E102G	probably benign	Het
D630045J12Rik	A	T	6: 38,148,465	V1538E	probably damaging	Het
Dnah7a	A	G	1: 53,501,674	S2514P	possibly damaging	Het
Eme1	C	T	11: 94,650,874	A41T	probably benign	Het
F11	T	C	8: 45,252,159	Y115C	probably damaging	Het
Fam155a	T	A	8: 9,770,114	D302V	probably benign	Het
Fap	A	T	2: 62,537,001	W313R	probably damaging	Het
Fcho1	C	T	8: 71,712,560	A418T	probably benign	Het
Ggt6	T	A	11: 72,437,262	L158*	probably null	Het
Gm281	G	A	14: 13,856,686	S475L	probably benign	Het
Herc2	A	C	7: 56,121,705	I1072L	probably benign	Het
Hhat	T	C	1: 192,726,331	N164S	probably benign	Het
Klrb1	A	G	6: 128,710,045		probably null	Het
L3mbtl4	T	A	17: 68,486,962	D320E	probably benign	Het
Lyst	C	A	13: 13,678,241	Y2275*	probably null	Het
Map4k3	T	C	17: 80,605,983	N611S	probably benign	Het
Morc3	T	C	16: 93,873,396		probably null	Het
Mtr	A	C	13: 12,200,247	Y864D	probably damaging	Het
Myh2	C	T	11: 67,179,524	A431V	possibly damaging	Het
Myo9a	C	A	9: 59,871,067	Q1369K	probably benign	Het
Nat3	T	C	8: 67,547,997	I176T	probably benign	Het
Ncapd3	C	T	9: 27,037,084	T54I	probably benign	Het
Nfyc	C	A	4: 120,759,377	E281D	probably benign	Het
Nlrp14	A	G	7: 107,183,135	D513G	probably benign	Het
Pacsin2	T	C	15: 83,379,181	E83G	probably damaging	Het
Plagl1	G	T	10: 13,128,554		probably benign	Het
Pmpcb	T	C	5: 21,748,774	L340P	possibly damaging	Het
Pou2f2	A	T	7: 25,096,930	L364Q	probably damaging	Het
Rab1b	A	T	19: 5,104,669	I84N	probably damaging	Het
Ric3	T	C	7: 109,038,880	Y222C	probably damaging	Het
Samhd1	A	G	2: 157,123,331	V188A	probably damaging	Het
Socs4	T	A	14: 47,289,969	H107Q	probably damaging	Het
Tex15	T	A	8: 33,571,547	I335K	possibly damaging	Het
Thop1	C	A	10: 81,075,577	T99K	probably damaging	Het
Tnik	A	G	3: 28,594,086	E429G	possibly damaging	Het
Vmn2r106	T	A	17: 20,268,203	I645F	probably damaging	Het
Zscan29	T	A	2: 121,161,479	R609S	possibly damaging	Het

Other mutations in Cilp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01483:Cilp2	APN	8	69882846	missense	probably damaging	0.96
IGL01538:Cilp2	APN	8	69881204	missense	probably benign	0.13
IGL02063:Cilp2	APN	8	69882865	missense	probably damaging	1.00
IGL02582:Cilp2	APN	8	69881286	missense	probably damaging	1.00
IGL02892:Cilp2	APN	8	69884320	missense	probably benign	0.02
R0308:Cilp2	UTSW	8	69882993	missense	probably benign	0.00
R0371:Cilp2	UTSW	8	69881606	missense	probably damaging	1.00
R0413:Cilp2	UTSW	8	69882993	missense	probably benign	0.00
R0414:Cilp2	UTSW	8	69882993	missense	probably benign	0.00
R0470:Cilp2	UTSW	8	69885405	missense	possibly damaging	0.87
R0838:Cilp2	UTSW	8	69881719	missense	probably benign	0.04
R1807:Cilp2	UTSW	8	69882194	missense	probably damaging	1.00
R1864:Cilp2	UTSW	8	69881323	missense	probably damaging	1.00
R2010:Cilp2	UTSW	8	69881694	missense	probably damaging	1.00
R2104:Cilp2	UTSW	8	69882792	nonsense	probably null
R2339:Cilp2	UTSW	8	69882894	missense	probably benign	0.04
R4572:Cilp2	UTSW	8	69882410	missense	probably damaging	1.00
R5225:Cilp2	UTSW	8	69883365	missense	probably damaging	1.00
R5923:Cilp2	UTSW	8	69882875	missense	probably damaging	1.00
R6113:Cilp2	UTSW	8	69882359	missense	probably benign	0.00
R6958:Cilp2	UTSW	8	69882540	missense	probably benign	0.01
R7108:Cilp2	UTSW	8	69881129	missense	probably damaging	1.00
R7454:Cilp2	UTSW	8	69883390	missense	probably damaging	1.00
R7455:Cilp2	UTSW	8	69881071	missense	probably damaging	1.00
R7598:Cilp2	UTSW	8	69886032	missense	probably benign	0.29
R7736:Cilp2	UTSW	8	69881421	missense	probably damaging	1.00
R7781:Cilp2	UTSW	8	69882347	missense	possibly damaging	0.81
Z1088:Cilp2	UTSW	8	69885410	missense	possibly damaging	0.94
Z1177:Cilp2	UTSW	8	69882808	missense	probably damaging	0.99
Z1177:Cilp2	UTSW	8	69884542	missense	probably damaging	1.00
Z1177:Cilp2	UTSW	8	69884546	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ACGCTGTCTACGAAGTCTCCACTC -3'
(R):5'- CCCATGATGCTGTACACTTACTGCC -3'

Sequencing Primer
(F):5'- TATCCTGGCGAAACGCAG -3'
(R):5'- TCTTCAGGTTCCACAACGGG -3'

Posted On

2013-10-16