Mutagenetix > Incidental Mutation

Incidental Mutation 'R2252:Cspg4'

241761

Institutional Source

Beutler Lab

Gene Symbol

Cspg4

Ensembl Gene

ENSMUSG00000032911

Gene Name

chondroitin sulfate proteoglycan 4

Synonyms

Cspg4a, AN2, NG2, 4732461B14Rik

MMRRC Submission

040252-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2252 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

56772388-56807154 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 56805330 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 2047 (T2047I)

Ref Sequence

ENSEMBL: ENSMUSP00000038909 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035661]

AlphaFold

Q8VHY0

Predicted Effect

probably damaging
Transcript: ENSMUST00000035661
AA Change: T2047I

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

SMART Domains

Protein: ENSMUSP00000038909
Gene: ENSMUSG00000032911
AA Change: T2047I

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
LamG	47	179	9.16e-22	SMART
LamG	223	364	3.52e-23	SMART
low complexity region	384	397	N/A	INTRINSIC
Pfam:Cadherin_3	495	646	1e-36	PFAM
Pfam:Cadherin_3	732	885	7.9e-14	PFAM
Pfam:Cadherin_3	868	996	7e-15	PFAM
Pfam:Cadherin_3	972	1115	9e-26	PFAM
Pfam:Cadherin_3	1116	1223	1.1e-10	PFAM
Pfam:Cadherin_3	1225	1344	3.3e-12	PFAM
Pfam:Cadherin_3	1425	1568	6.3e-52	PFAM
Pfam:Cadherin_3	1578	1684	9.7e-9	PFAM
Pfam:Cadherin_3	1674	1809	3.2e-9	PFAM
Pfam:Cadherin_3	1779	1929	1.6e-31	PFAM
transmembrane domain	2229	2251	N/A	INTRINSIC
low complexity region	2295	2305	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215666

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217052

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] A human melanoma-associated chondroitin sulfate proteoglycan plays a role in stabilizing cell-substratum interactions during early events of melanoma cell spreading on endothelial basement membranes. CSPG4 represents an integral membrane chondroitin sulfate proteoglycan expressed by human malignant melanoma cells. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation display abnormal dentate gyrus morphology and abnormal smooth muscle cell physiology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700129C05Rik	G	A	14: 59,380,061 (GRCm39)	S79F	probably damaging	Het
Acaca	G	T	11: 84,262,358 (GRCm39)	V1987L	probably damaging	Het
B3gnt3	A	T	8: 72,145,462 (GRCm39)	M302K	probably damaging	Het
BC048507	T	C	13: 68,011,626 (GRCm39)	M1T	probably null	Het
Bckdk	C	A	7: 127,504,590 (GRCm39)	R105S	probably damaging	Het
Casp3	G	T	8: 47,090,990 (GRCm39)	W214L	probably damaging	Het
Cd180	A	T	13: 102,842,906 (GRCm39)	K651*	probably null	Het
Cdh15	T	A	8: 123,584,161 (GRCm39)	D87E	probably damaging	Het
Cldn24	G	T	8: 48,275,363 (GRCm39)	R62S	probably benign	Het
Cnot1	A	G	8: 96,489,814 (GRCm39)	V463A	probably benign	Het
Cul2	A	T	18: 3,399,876 (GRCm39)	L3F	probably damaging	Het
Cwc27	A	T	13: 104,768,237 (GRCm39)	H419Q	probably damaging	Het
Dgkg	A	T	16: 22,441,010 (GRCm39)	M1K	probably null	Het
Dock5	A	T	14: 68,022,261 (GRCm39)	L1171H	probably damaging	Het
Drc1	G	T	5: 30,500,075 (GRCm39)	V103F	probably benign	Het
Ep400	A	T	5: 110,866,957 (GRCm39)	N1062K	unknown	Het
Faap20	A	C	4: 155,335,010 (GRCm39)	E37A	possibly damaging	Het
Foxa2	A	G	2: 147,886,086 (GRCm39)	F243S	probably damaging	Het
Gzf1	T	C	2: 148,525,856 (GRCm39)	M109T	probably damaging	Het
Itch	T	A	2: 155,054,259 (GRCm39)	M701K	probably benign	Het
Kpna1	T	C	16: 35,841,939 (GRCm39)	Y280H	possibly damaging	Het
L1td1	A	G	4: 98,625,874 (GRCm39)		probably null	Het
Lrrc37a	T	C	11: 103,392,293 (GRCm39)	Q1044R	probably benign	Het
Lrrc52	A	T	1: 167,293,937 (GRCm39)	I116N	probably damaging	Het
Mbd5	A	G	2: 49,147,698 (GRCm39)	E636G	probably damaging	Het
Mrpl40	T	C	16: 18,694,125 (GRCm39)	H29R	probably benign	Het
Nrip1	T	C	16: 76,088,173 (GRCm39)	Y1128C	probably damaging	Het
Or10d3	G	T	9: 39,461,273 (GRCm39)	A298D	probably damaging	Het
Or4g16	A	G	2: 111,136,655 (GRCm39)	Y35C	probably damaging	Het
Or5ak20	A	G	2: 85,184,202 (GRCm39)	S23P	possibly damaging	Het
Or8c8	A	G	9: 38,165,126 (GRCm39)	I135V	probably benign	Het
Pard3	A	T	8: 128,337,080 (GRCm39)	E1232V	probably damaging	Het
Pcif1	A	G	2: 164,732,799 (GRCm39)	E628G	probably benign	Het
Pcsk1	C	A	13: 75,274,845 (GRCm39)	A478D	probably benign	Het
Pkd1l2	T	C	8: 117,784,177 (GRCm39)	Y700C	probably damaging	Het
Pknox2	T	C	9: 36,821,816 (GRCm39)	N270D	probably benign	Het
Plcb2	T	C	2: 118,554,246 (GRCm39)	N69S	probably benign	Het
Reep1	T	A	6: 71,733,426 (GRCm39)		probably null	Het
Sash1	A	T	10: 8,605,741 (GRCm39)	M883K	probably benign	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Septin4	A	G	11: 87,480,637 (GRCm39)	N405D	possibly damaging	Het
Serpinb3b	T	C	1: 107,083,208 (GRCm39)	I231M	possibly damaging	Het
Serping1	A	G	2: 84,600,195 (GRCm39)	S322P	probably damaging	Het
Slc7a2	T	C	8: 41,358,658 (GRCm39)	Y334H	probably benign	Het
Spink5	G	T	18: 44,153,891 (GRCm39)	E1013*	probably null	Het
Thoc3	A	T	13: 54,615,646 (GRCm39)	N139K	probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tubb2b	T	A	13: 34,314,198 (GRCm39)	I7F	possibly damaging	Het
Upf2	A	G	2: 5,966,271 (GRCm39)	D297G	unknown	Het
Vmn2r18	T	C	5: 151,508,441 (GRCm39)	I228V	possibly damaging	Het
Vmn2r98	A	C	17: 19,300,698 (GRCm39)	S567R	probably benign	Het
Vwa5a	T	C	9: 38,639,376 (GRCm39)	I369T	probably damaging	Het
Yjefn3	A	C	8: 70,342,095 (GRCm39)	F42V	probably damaging	Het
Zfp472	A	T	17: 33,195,257 (GRCm39)	R69*	probably null	Het
Zfp536	T	C	7: 37,178,814 (GRCm39)	S200G	probably benign	Het
Zfp970	T	A	2: 177,166,614 (GRCm39)		probably null	Het

Other mutations in Cspg4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01074:Cspg4	APN	9	56,806,149 (GRCm39)	missense	probably damaging	1.00
IGL01322:Cspg4	APN	9	56,805,872 (GRCm39)	missense	probably damaging	1.00
IGL01922:Cspg4	APN	9	56,795,171 (GRCm39)	missense	probably damaging	1.00
IGL01993:Cspg4	APN	9	56,805,762 (GRCm39)	missense	probably benign	0.09
IGL02379:Cspg4	APN	9	56,799,893 (GRCm39)	splice site	probably benign
IGL02398:Cspg4	APN	9	56,793,970 (GRCm39)	missense	probably benign	0.43
IGL02503:Cspg4	APN	9	56,804,687 (GRCm39)	missense	probably damaging	1.00
IGL02504:Cspg4	APN	9	56,793,056 (GRCm39)	missense	probably benign	0.06
IGL02692:Cspg4	APN	9	56,794,738 (GRCm39)	missense	probably benign	0.00
IGL02728:Cspg4	APN	9	56,793,765 (GRCm39)	missense	probably damaging	1.00
IGL02806:Cspg4	APN	9	56,797,543 (GRCm39)	missense	possibly damaging	0.57
IGL02886:Cspg4	APN	9	56,804,672 (GRCm39)	missense	probably damaging	0.99
IGL03005:Cspg4	APN	9	56,795,772 (GRCm39)	missense	probably damaging	1.00
IGL03008:Cspg4	APN	9	56,805,759 (GRCm39)	missense	possibly damaging	0.48
IGL03202:Cspg4	APN	9	56,805,023 (GRCm39)	missense	possibly damaging	0.93
chiclets	UTSW	9	56,792,506 (GRCm39)	splice site	probably null
R0066:Cspg4	UTSW	9	56,795,418 (GRCm39)	missense	probably damaging	1.00
R0066:Cspg4	UTSW	9	56,795,418 (GRCm39)	missense	probably damaging	1.00
R0254:Cspg4	UTSW	9	56,804,694 (GRCm39)	missense	probably damaging	0.98
R0284:Cspg4	UTSW	9	56,793,423 (GRCm39)	missense	probably damaging	0.96
R0513:Cspg4	UTSW	9	56,805,375 (GRCm39)	missense	probably benign	0.03
R0602:Cspg4	UTSW	9	56,795,301 (GRCm39)	missense	probably damaging	1.00
R0747:Cspg4	UTSW	9	56,797,564 (GRCm39)	missense	probably damaging	1.00
R1005:Cspg4	UTSW	9	56,796,020 (GRCm39)	missense	probably benign	0.13
R1421:Cspg4	UTSW	9	56,803,910 (GRCm39)	missense	probably benign	0.00
R1443:Cspg4	UTSW	9	56,793,796 (GRCm39)	missense	probably damaging	1.00
R1481:Cspg4	UTSW	9	56,795,094 (GRCm39)	missense	probably damaging	0.98
R1585:Cspg4	UTSW	9	56,806,151 (GRCm39)	missense	probably damaging	0.99
R1624:Cspg4	UTSW	9	56,795,754 (GRCm39)	missense	probably damaging	1.00
R1670:Cspg4	UTSW	9	56,804,687 (GRCm39)	missense	probably damaging	1.00
R1721:Cspg4	UTSW	9	56,796,027 (GRCm39)	missense	probably damaging	0.98
R1728:Cspg4	UTSW	9	56,805,821 (GRCm39)	missense	probably benign	0.00
R1729:Cspg4	UTSW	9	56,805,821 (GRCm39)	missense	probably benign	0.00
R1763:Cspg4	UTSW	9	56,794,263 (GRCm39)	missense	probably damaging	0.97
R1772:Cspg4	UTSW	9	56,804,776 (GRCm39)	missense	probably benign	0.02
R1938:Cspg4	UTSW	9	56,794,385 (GRCm39)	missense	probably benign	0.00
R1975:Cspg4	UTSW	9	56,797,762 (GRCm39)	missense	probably damaging	1.00
R2064:Cspg4	UTSW	9	56,803,940 (GRCm39)	missense	probably damaging	1.00
R2185:Cspg4	UTSW	9	56,794,256 (GRCm39)	missense	probably benign	0.37
R2291:Cspg4	UTSW	9	56,800,027 (GRCm39)	missense	probably damaging	0.96
R2329:Cspg4	UTSW	9	56,795,834 (GRCm39)	missense	probably benign	0.00
R3780:Cspg4	UTSW	9	56,795,517 (GRCm39)	missense	probably damaging	1.00
R3830:Cspg4	UTSW	9	56,804,905 (GRCm39)	missense	probably damaging	0.99
R3944:Cspg4	UTSW	9	56,793,407 (GRCm39)	missense	probably damaging	1.00
R4011:Cspg4	UTSW	9	56,794,601 (GRCm39)	missense	probably benign	0.19
R4115:Cspg4	UTSW	9	56,805,678 (GRCm39)	missense	probably damaging	1.00
R4173:Cspg4	UTSW	9	56,795,214 (GRCm39)	missense	probably damaging	1.00
R4243:Cspg4	UTSW	9	56,795,141 (GRCm39)	missense	probably benign	0.12
R4329:Cspg4	UTSW	9	56,799,749 (GRCm39)	missense	probably damaging	0.99
R4544:Cspg4	UTSW	9	56,795,913 (GRCm39)	missense	possibly damaging	0.79
R4545:Cspg4	UTSW	9	56,795,913 (GRCm39)	missense	possibly damaging	0.79
R4546:Cspg4	UTSW	9	56,795,913 (GRCm39)	missense	possibly damaging	0.79
R4649:Cspg4	UTSW	9	56,794,149 (GRCm39)	missense	possibly damaging	0.93
R4663:Cspg4	UTSW	9	56,793,960 (GRCm39)	missense	possibly damaging	0.61
R4674:Cspg4	UTSW	9	56,805,489 (GRCm39)	missense	probably damaging	1.00
R4779:Cspg4	UTSW	9	56,793,092 (GRCm39)	missense	probably damaging	1.00
R4884:Cspg4	UTSW	9	56,805,353 (GRCm39)	missense	probably benign	0.00
R5021:Cspg4	UTSW	9	56,805,014 (GRCm39)	missense	probably benign	0.01
R5051:Cspg4	UTSW	9	56,793,020 (GRCm39)	missense	possibly damaging	0.95
R5328:Cspg4	UTSW	9	56,793,140 (GRCm39)	missense	probably benign	0.01
R5394:Cspg4	UTSW	9	56,797,484 (GRCm39)	missense	probably damaging	1.00
R5567:Cspg4	UTSW	9	56,793,932 (GRCm39)	missense	probably benign	0.00
R5682:Cspg4	UTSW	9	56,793,480 (GRCm39)	missense	probably benign	0.14
R5690:Cspg4	UTSW	9	56,806,019 (GRCm39)	missense	probably benign	0.01
R5715:Cspg4	UTSW	9	56,798,335 (GRCm39)	missense	possibly damaging	0.90
R5717:Cspg4	UTSW	9	56,793,082 (GRCm39)	missense	probably benign
R5726:Cspg4	UTSW	9	56,793,188 (GRCm39)	missense	probably damaging	1.00
R5898:Cspg4	UTSW	9	56,792,506 (GRCm39)	splice site	probably null
R6140:Cspg4	UTSW	9	56,804,508 (GRCm39)	missense	probably benign	0.35
R6147:Cspg4	UTSW	9	56,796,056 (GRCm39)	missense	probably damaging	0.99
R6239:Cspg4	UTSW	9	56,795,466 (GRCm39)	missense	probably benign	0.04
R6343:Cspg4	UTSW	9	56,799,976 (GRCm39)	missense	probably benign
R6351:Cspg4	UTSW	9	56,799,928 (GRCm39)	missense	probably benign	0.00
R6564:Cspg4	UTSW	9	56,797,442 (GRCm39)	missense	probably benign	0.02
R6814:Cspg4	UTSW	9	56,797,624 (GRCm39)	missense	possibly damaging	0.91
R6928:Cspg4	UTSW	9	56,805,164 (GRCm39)	missense	possibly damaging	0.95
R6967:Cspg4	UTSW	9	56,797,420 (GRCm39)	missense	possibly damaging	0.52
R6981:Cspg4	UTSW	9	56,794,385 (GRCm39)	missense	probably benign	0.00
R7033:Cspg4	UTSW	9	56,795,358 (GRCm39)	missense	probably damaging	0.96
R7419:Cspg4	UTSW	9	56,795,727 (GRCm39)	missense	possibly damaging	0.94
R7809:Cspg4	UTSW	9	56,797,474 (GRCm39)	missense	probably damaging	1.00
R7940:Cspg4	UTSW	9	56,795,381 (GRCm39)	nonsense	probably null
R8078:Cspg4	UTSW	9	56,797,543 (GRCm39)	missense	possibly damaging	0.57
R8082:Cspg4	UTSW	9	56,793,177 (GRCm39)	missense	probably damaging	1.00
R8217:Cspg4	UTSW	9	56,797,637 (GRCm39)	missense	possibly damaging	0.53
R8237:Cspg4	UTSW	9	56,799,964 (GRCm39)	missense	probably damaging	1.00
R8353:Cspg4	UTSW	9	56,805,953 (GRCm39)	missense	probably damaging	1.00
R8372:Cspg4	UTSW	9	56,794,479 (GRCm39)	missense	probably damaging	1.00
R8691:Cspg4	UTSW	9	56,800,280 (GRCm39)	missense	probably benign
R8720:Cspg4	UTSW	9	56,794,797 (GRCm39)	missense	probably benign	0.25
R8907:Cspg4	UTSW	9	56,790,967 (GRCm39)	missense	probably damaging	1.00
R9063:Cspg4	UTSW	9	56,795,687 (GRCm39)	missense	probably benign	0.03
R9115:Cspg4	UTSW	9	56,797,736 (GRCm39)	missense	probably damaging	1.00
R9152:Cspg4	UTSW	9	56,795,463 (GRCm39)	missense	probably benign	0.26
R9154:Cspg4	UTSW	9	56,798,287 (GRCm39)	missense
R9361:Cspg4	UTSW	9	56,803,877 (GRCm39)	missense	probably damaging	1.00
R9574:Cspg4	UTSW	9	56,797,342 (GRCm39)	missense	probably damaging	1.00
R9608:Cspg4	UTSW	9	56,792,836 (GRCm39)	missense	probably benign
R9685:Cspg4	UTSW	9	56,797,622 (GRCm39)	missense	probably benign	0.05
X0065:Cspg4	UTSW	9	56,793,020 (GRCm39)	missense	possibly damaging	0.95
Z1088:Cspg4	UTSW	9	56,793,320 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CGATCGTGAGGAACCAGATG -3'
(R):5'- ATTCTGTTCGGCCTTGGGAC -3'

Sequencing Primer
(F):5'- GGAACCAGATGTAGCTTACCGC -3'
(R):5'- TTGGGACACTCGGACCACAC -3'

Posted On

2014-10-16