Mutagenetix > Incidental Mutation

Incidental Mutation 'R0414:Cilp2'

216194

Institutional Source

Beutler Lab

Gene Symbol

Cilp2

Ensembl Gene

ENSMUSG00000044006

Gene Name

cartilage intermediate layer protein 2

Synonyms

1110031K21Rik, CLIP-2

MMRRC Submission

038616-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0414 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

70333016-70340042 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70335643 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 452 (S452P)

Ref Sequence

ENSEMBL: ENSMUSP00000061544 (fasta)

Gene Model

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

AlphaFold

D3Z7H8

Predicted Effect

probably benign
Transcript: ENSMUST00000057831
AA Change: S452P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000061544
Gene: ENSMUSG00000044006
AA Change: S452P

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.6%

Validation Efficiency

96% (64/67)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700016H13Rik	A	T	5: 103,797,356 (GRCm39)	V51E	probably benign	Het
Abo	T	C	2: 26,733,428 (GRCm39)	Y259C	probably damaging	Het
Adamts5	A	G	16: 85,674,794 (GRCm39)	S457P	probably damaging	Het
Alk	G	T	17: 72,206,281 (GRCm39)		probably benign	Het
Alpk2	A	G	18: 65,439,230 (GRCm39)	I1188T	probably benign	Het
Ambra1	T	C	2: 91,706,084 (GRCm39)	S730P	possibly damaging	Het
Arhgef2	T	C	3: 88,539,575 (GRCm39)		probably benign	Het
Atpsckmt	T	A	15: 31,617,148 (GRCm39)	Y126*	probably null	Het
B3gnt7	T	C	1: 86,233,351 (GRCm39)	I82T	probably damaging	Het
B4galnt3	T	C	6: 120,193,526 (GRCm39)	D400G	probably benign	Het
Bag4	A	G	8: 26,258,025 (GRCm39)	V434A	possibly damaging	Het
Cfap251	A	G	5: 123,425,476 (GRCm39)		probably null	Het
Cfc1	A	G	1: 34,576,409 (GRCm39)	D130G	probably damaging	Het
Chd4	T	C	6: 125,084,443 (GRCm39)	Y692H	probably damaging	Het
Clec2m	T	C	6: 129,303,813 (GRCm39)		probably benign	Het
Crybg2	GAGAAGAAG	GAGAAG	4: 133,799,947 (GRCm39)		probably benign	Het
Dnah2	T	C	11: 69,390,064 (GRCm39)	D727G	probably benign	Het
Dock10	C	A	1: 80,513,650 (GRCm39)	V1129F	possibly damaging	Het
Dsc1	A	T	18: 20,221,411 (GRCm39)	I688N	possibly damaging	Het
Dyrk1a	C	G	16: 94,464,701 (GRCm39)	T103R	probably damaging	Het
Ebf1	C	T	11: 44,815,297 (GRCm39)	R304*	probably null	Het
Eif2s2	A	G	2: 154,726,381 (GRCm39)		probably benign	Het
Endov	T	G	11: 119,390,397 (GRCm39)	Y8*	probably null	Het
Eps15	T	A	4: 109,223,677 (GRCm39)	D485E	probably damaging	Het
Fam118a	C	A	15: 84,929,890 (GRCm39)	S39R	probably damaging	Het
Fbxo22	T	A	9: 55,130,910 (GRCm39)	M393K	possibly damaging	Het
Firrm	T	C	1: 163,795,890 (GRCm39)	I434V	probably benign	Het
Gab1	A	G	8: 81,526,918 (GRCm39)	I60T	probably damaging	Het
Gapvd1	A	G	2: 34,583,439 (GRCm39)	L1059P	probably benign	Het
Gbp5	A	G	3: 142,213,674 (GRCm39)		probably null	Het
Glb1l2	T	A	9: 26,676,400 (GRCm39)	K487*	probably null	Het
H1f1	A	G	13: 23,948,141 (GRCm39)		probably benign	Het
Hmcn1	T	C	1: 150,591,573 (GRCm39)	I1875M	possibly damaging	Het
Jkamp	T	C	12: 72,140,919 (GRCm39)		probably null	Het
Kprp	C	T	3: 92,733,020 (GRCm39)	C10Y	probably damaging	Het
Lrig2	A	G	3: 104,401,372 (GRCm39)		probably null	Het
Lrrn3	T	A	12: 41,503,939 (GRCm39)	N126I	probably damaging	Het
Mug1	T	C	6: 121,833,513 (GRCm39)	F325L	probably benign	Het
Myadm	AC	ACC	7: 3,345,276 (GRCm39)		probably null	Het
Nagk	C	T	6: 83,774,249 (GRCm39)	R87*	probably null	Het
Nipal4	T	A	11: 46,052,735 (GRCm39)	I77F	probably damaging	Het
Or4c112	A	G	2: 88,853,490 (GRCm39)	Y286H	probably damaging	Het
Osbp2	T	C	11: 3,769,932 (GRCm39)	H250R	probably damaging	Het
Pcx	T	C	19: 4,657,670 (GRCm39)	V378A	possibly damaging	Het
Pfkp	T	A	13: 6,643,246 (GRCm39)	H524L	probably benign	Het
Picalm	A	T	7: 89,838,406 (GRCm39)	N370I	possibly damaging	Het
Plcl2	A	C	17: 50,914,983 (GRCm39)	D664A	possibly damaging	Het
Ptpn5	G	A	7: 46,732,884 (GRCm39)	P320S	probably benign	Het
Scn3a	T	A	2: 65,356,326 (GRCm39)		probably benign	Het
Sfswap	A	G	5: 129,581,115 (GRCm39)	D96G	possibly damaging	Het
Slfn1	A	G	11: 83,012,096 (GRCm39)	I71V	probably benign	Het
Spata1	A	G	3: 146,181,943 (GRCm39)		probably null	Het
Stx18	T	C	5: 38,262,349 (GRCm39)		probably benign	Het
Suox	T	A	10: 128,507,326 (GRCm39)	H234L	probably benign	Het
Tbc1d17	T	C	7: 44,495,483 (GRCm39)	S114G	probably benign	Het
Tfeb	T	A	17: 48,099,224 (GRCm39)		probably null	Het
Tnks	A	C	8: 35,320,463 (GRCm39)	V736G	probably damaging	Het
Wdhd1	T	C	14: 47,514,045 (GRCm39)	T4A	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
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
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

Predicted Primers

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

Sequencing Primer
(F):5'- GCACCTCGATGGTGAAGTC -3'
(R):5'- GGACGATTGCGGCCAAC -3'

Posted On

2014-07-29