Mutagenetix > Incidental Mutation

Incidental Mutation 'R7736:Cilp2'

596262

Institutional Source

Beutler Lab

Gene Symbol

Cilp2

Ensembl Gene

ENSMUSG00000044006

Gene Name

cartilage intermediate layer protein 2

Synonyms

1110031K21Rik, CLIP-2

MMRRC Submission

045792-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7736 (G1)

Quality Score

180.009

Status

Not validated

Chromosome

Chromosomal Location

69880369-69887687 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 69881421 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 976 (Y976H)

Ref Sequence

ENSEMBL: ENSMUSP00000061544 (fasta)

Gene Model

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

AlphaFold

D3Z7H8

Predicted Effect

probably damaging
Transcript: ENSMUST00000057831
AA Change: Y976H

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

SMART Domains

Protein: ENSMUSP00000061544
Gene: ENSMUSG00000044006
AA Change: Y976H

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

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	G	1: 71,319,964 (GRCm38)	D561A	probably benign	Het
Adgrg1	T	C	8: 95,005,337 (GRCm38)	F204S	probably benign	Het
Apoa2	T	C	1: 171,226,172 (GRCm38)	L72P	probably damaging	Het
Arhgef10	A	T	8: 14,980,583 (GRCm38)	K987*	probably null	Het
Arrb1	A	G	7: 99,539,774 (GRCm38)	D9G	unknown	Het
Asph	A	G	4: 9,621,930 (GRCm38)	S192P	possibly damaging	Het
Bcas1	G	A	2: 170,387,164 (GRCm38)	T309M	possibly damaging	Het
Bcat2	C	T	7: 45,585,193 (GRCm38)	T166M	possibly damaging	Het
Bmp5	A	T	9: 75,893,790 (GRCm38)	I401L	probably damaging	Het
Bpifb9b	G	A	2: 154,312,105 (GRCm38)	G261R	probably benign	Het
Cd53	T	A	3: 106,767,936 (GRCm38)	Y106F	probably benign	Het
Cdhr3	T	A	12: 33,053,520 (GRCm38)	D366V	probably benign	Het
Ceacam10	G	C	7: 24,781,211 (GRCm38)	V256L	unknown	Het
Cklf	A	G	8: 104,261,555 (GRCm38)	T107A	possibly damaging	Het
Dhx16	T	A	17: 35,881,676 (GRCm38)	W167R	possibly damaging	Het
Dkk2	T	G	3: 132,178,014 (GRCm38)	L225R	probably damaging	Het
Dmbt1	A	T	7: 131,116,896 (GRCm38)	D1782V	unknown	Het
Ebag9	A	T	15: 44,628,404 (GRCm38)	D64V	probably damaging	Het
Eif3j2	T	C	18: 43,477,317 (GRCm38)	N144D	possibly damaging	Het
Elp1	T	C	4: 56,776,920 (GRCm38)	T626A	possibly damaging	Het
Foxk2	A	T	11: 121,299,647 (GRCm38)	Q538L	possibly damaging	Het
Fpgt	T	G	3: 155,087,110 (GRCm38)	I427L	probably benign	Het
Ganc	A	T	2: 120,433,814 (GRCm38)	N416I	possibly damaging	Het
Gata6	A	G	18: 11,084,379 (GRCm38)	Y556C	probably damaging	Het
Gga2	A	T	7: 121,990,524 (GRCm38)	V534E	probably damaging	Het
Gm6904	C	T	14: 59,251,145 (GRCm38)	D68N	probably benign	Het
Gm7324	T	A	14: 43,714,799 (GRCm38)	S300T	possibly damaging	Het
Gprc6a	A	C	10: 51,615,453 (GRCm38)	N733K	possibly damaging	Het
Hivep3	C	T	4: 120,095,543 (GRCm38)	T352I	possibly damaging	Het
Ift88	T	G	14: 57,445,664 (GRCm38)	V266G	probably benign	Het
Ip6k1	G	T	9: 108,045,692 (GRCm38)	G341V	probably damaging	Het
Itga3	G	T	11: 95,076,203 (GRCm38)	A45E	probably damaging	Het
Kctd14	T	A	7: 97,457,940 (GRCm38)	L134Q	probably damaging	Het
Lats1	C	A	10: 7,702,364 (GRCm38)	N417K	probably damaging	Het
Lrrc37a	T	C	11: 103,497,459 (GRCm38)	H2380R	unknown	Het
Lrrc4c	A	G	2: 97,630,360 (GRCm38)	T444A	probably benign	Het
M1ap	T	C	6: 83,005,584 (GRCm38)	I283T	probably benign	Het
Mapre2	T	C	18: 23,877,955 (GRCm38)	S207P	probably benign	Het
Moxd1	T	C	10: 24,282,710 (GRCm38)	F421L	probably damaging	Het
Nos2	T	A	11: 78,922,366 (GRCm38)	C33*	probably null	Het
Or14j4	A	T	17: 37,610,412 (GRCm38)	L113H	probably damaging	Het
Or1j16	A	T	2: 36,640,185 (GRCm38)	I49F	probably damaging	Het
Or5g26	T	C	2: 85,664,414 (GRCm38)	T7A	probably damaging	Het
Otud4	T	C	8: 79,655,765 (GRCm38)	I201T	possibly damaging	Het
Pank4	T	C	4: 154,969,747 (GRCm38)	Y128H	probably benign	Het
Pitpnm2	A	G	5: 124,123,030 (GRCm38)	V1027A	possibly damaging	Het
Plcb3	A	G	19: 6,969,623 (GRCm38)	V8A	probably benign	Het
Por	A	G	5: 135,731,122 (GRCm38)	E221G	probably damaging	Het
Prokr2	A	T	2: 132,381,580 (GRCm38)	L14*	probably null	Het
Ptgis	A	G	2: 167,191,971 (GRCm38)	F459S	unknown	Het
Ptpru	T	C	4: 131,788,382 (GRCm38)	E887G	probably damaging	Het
Qrich2	GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG	GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG	11: 116,457,541 (GRCm38)		probably benign	Het
Slc18a1	A	G	8: 69,065,554 (GRCm38)		probably null	Het
Slc27a3	A	G	3: 90,389,433 (GRCm38)	S120P	probably benign	Het
Slc2a12	T	A	10: 22,664,818 (GRCm38)	Y191N	probably damaging	Het
Snx29	T	A	16: 11,367,724 (GRCm38)	M57K	probably benign	Het
Syncrip	A	G	9: 88,461,668 (GRCm38)		probably null	Het
Taar4	T	A	10: 23,960,999 (GRCm38)	V169E	probably damaging	Het
Tas1r1	C	T	4: 152,032,466 (GRCm38)	G237D	probably benign	Het
Tle1	T	C	4: 72,199,334 (GRCm38)	K30E	probably damaging	Het
Tmem131l	A	T	3: 83,940,568 (GRCm38)	L330Q	probably damaging	Het
Tmem67	A	G	4: 12,053,455 (GRCm38)	F698L	probably benign	Het
Ttn	T	A	2: 76,909,230 (GRCm38)	Q3701L	unknown	Het
Vmn2r17	G	A	5: 109,452,891 (GRCm38)	R685K	probably benign	Het
Ylpm1	C	A	12: 85,012,983 (GRCm38)	A321E	unknown	Het
Zdbf2	T	A	1: 63,308,007 (GRCm38)	Y1848*	probably null	Het
Zfand2b	T	A	1: 75,169,532 (GRCm38)	N61K	probably null	Het
Zfp867	C	T	11: 59,463,190 (GRCm38)	A438T	probably damaging	Het
Zkscan14	G	A	5: 145,195,509 (GRCm38)	T404I	probably benign	Het
Zrsr2-ps1	C	T	11: 22,973,510 (GRCm38)	Q95*	probably null	Het

Other mutations in Cilp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01483:Cilp2	APN	8	69,882,846 (GRCm38)	missense	probably damaging	0.96
IGL01538:Cilp2	APN	8	69,881,204 (GRCm38)	missense	probably benign	0.13
IGL02063:Cilp2	APN	8	69,882,865 (GRCm38)	missense	probably damaging	1.00
IGL02582:Cilp2	APN	8	69,881,286 (GRCm38)	missense	probably damaging	1.00
IGL02892:Cilp2	APN	8	69,884,320 (GRCm38)	missense	probably benign	0.02
R0308:Cilp2	UTSW	8	69,882,993 (GRCm38)	missense	probably benign	0.00
R0371:Cilp2	UTSW	8	69,881,606 (GRCm38)	missense	probably damaging	1.00
R0413:Cilp2	UTSW	8	69,882,993 (GRCm38)	missense	probably benign	0.00
R0414:Cilp2	UTSW	8	69,882,993 (GRCm38)	missense	probably benign	0.00
R0470:Cilp2	UTSW	8	69,885,405 (GRCm38)	missense	possibly damaging	0.87
R0838:Cilp2	UTSW	8	69,881,719 (GRCm38)	missense	probably benign	0.04
R0842:Cilp2	UTSW	8	69,883,118 (GRCm38)	missense	probably damaging	1.00
R1807:Cilp2	UTSW	8	69,882,194 (GRCm38)	missense	probably damaging	1.00
R1864:Cilp2	UTSW	8	69,881,323 (GRCm38)	missense	probably damaging	1.00
R2010:Cilp2	UTSW	8	69,881,694 (GRCm38)	missense	probably damaging	1.00
R2104:Cilp2	UTSW	8	69,882,792 (GRCm38)	nonsense	probably null
R2339:Cilp2	UTSW	8	69,882,894 (GRCm38)	missense	probably benign	0.04
R4572:Cilp2	UTSW	8	69,882,410 (GRCm38)	missense	probably damaging	1.00
R5225:Cilp2	UTSW	8	69,883,365 (GRCm38)	missense	probably damaging	1.00
R5923:Cilp2	UTSW	8	69,882,875 (GRCm38)	missense	probably damaging	1.00
R6113:Cilp2	UTSW	8	69,882,359 (GRCm38)	missense	probably benign	0.00
R6958:Cilp2	UTSW	8	69,882,540 (GRCm38)	missense	probably benign	0.01
R7108:Cilp2	UTSW	8	69,881,129 (GRCm38)	missense	probably damaging	1.00
R7454:Cilp2	UTSW	8	69,883,390 (GRCm38)	missense	probably damaging	1.00
R7455:Cilp2	UTSW	8	69,881,071 (GRCm38)	missense	probably damaging	1.00
R7598:Cilp2	UTSW	8	69,886,032 (GRCm38)	missense	probably benign	0.29
R7781:Cilp2	UTSW	8	69,882,347 (GRCm38)	missense	possibly damaging	0.81
R8924:Cilp2	UTSW	8	69,886,458 (GRCm38)	missense	probably damaging	0.99
R9444:Cilp2	UTSW	8	69,882,896 (GRCm38)	missense	probably damaging	1.00
Z1088:Cilp2	UTSW	8	69,885,410 (GRCm38)	missense	possibly damaging	0.94
Z1177:Cilp2	UTSW	8	69,884,546 (GRCm38)	nonsense	probably null
Z1177:Cilp2	UTSW	8	69,884,542 (GRCm38)	missense	probably damaging	1.00
Z1177:Cilp2	UTSW	8	69,882,808 (GRCm38)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TAGTCCTGCAGAAGCGTGTTG -3'
(R):5'- ACAGTCACTTCCGATTCTCG -3'

Sequencing Primer
(F):5'- CAGAAGCGTGTTGACGGC -3'
(R):5'- TACGAGTACGACGTGGTGC -3'

Posted On

2019-11-26