Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02338:Cspg5'

288917

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cspg5

Ensembl Gene

ENSMUSG00000032482

Gene Name

chondroitin sulfate proteoglycan 5

Synonyms

CALEB, NGC, neuroglycan C

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.264) question?

Stock #

IGL02338

Quality Score

Status

Chromosome

Chromosomal Location

110072851-110091644 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 110085335 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 502 (R502H)

Ref Sequence

ENSEMBL: ENSMUSP00000143005 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035058] [ENSMUST00000196060] [ENSMUST00000197850] [ENSMUST00000199736]

AlphaFold

Q71M36

Predicted Effect

probably benign
Transcript: ENSMUST00000035058
AA Change: R502H

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000035058
Gene: ENSMUSG00000032482
AA Change: R502H

Domain	Start	End	E-Value	Type
low complexity region	4	31	N/A	INTRINSIC
Pfam:Chon_Sulph_att	33	278	2.5e-123	PFAM
low complexity region	290	302	N/A	INTRINSIC
EGF	373	413	1.99e1	SMART
transmembrane domain	421	443	N/A	INTRINSIC
Pfam:Neural_ProG_Cyt	447	565	5.8e-73	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000196060

SMART Domains

Protein: ENSMUSP00000143164
Gene: ENSMUSG00000032482

Domain	Start	End	E-Value	Type
Pfam:Chon_Sulph_att	31	278	1e-126	PFAM
low complexity region	290	302	N/A	INTRINSIC
EGF	373	413	1.99e1	SMART
transmembrane domain	421	443	N/A	INTRINSIC
Pfam:Neural_ProG_Cyt	447	487	8.9e-26	PFAM
Pfam:Neural_ProG_Cyt	486	539	1.3e-31	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000197850
AA Change: R502H

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000143005
Gene: ENSMUSG00000032482
AA Change: R502H

Domain	Start	End	E-Value	Type
Pfam:Chon_Sulph_att	31	278	1.1e-126	PFAM
low complexity region	290	302	N/A	INTRINSIC
EGF	373	413	1.99e1	SMART
transmembrane domain	421	443	N/A	INTRINSIC
Pfam:Neural_ProG_Cyt	447	520	1.5e-45	PFAM
low complexity region	524	539	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000199736

SMART Domains

Protein: ENSMUSP00000142845
Gene: ENSMUSG00000032482

Domain	Start	End	E-Value	Type
Pfam:Chon_Sulph_att	1	197	1.6e-99	PFAM
low complexity region	209	221	N/A	INTRINSIC
EGF	292	332	9.5e-2	SMART
transmembrane domain	340	362	N/A	INTRINSIC
Pfam:Neural_ProG_Cyt	366	406	1.2e-22	PFAM
Pfam:Neural_ProG_Cyt	405	458	1.7e-28	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200140

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a chondroitin sulfate proteoglycan. The encoded protein has been termed a 'part-time' proteoglycan, as chondroitin sulfate chains appear to be attached to the protein in the developing but not the adult cerebellum and retina. It is thought that this protein plays roles in dendrite branching and synapse formation. [provided by RefSeq, Oct 2009]
PHENOTYPE: Homozygous null mice display decreased spontaneous postsynaptic currents, increased paired-pulse ratios, and reduced long term depression during early postnatal developmental stages. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahdc1	G	A	4: 132,789,860 (GRCm39)	C367Y	possibly damaging	Het
AI182371	T	A	2: 34,975,728 (GRCm39)	I279L	probably benign	Het
Ambp	A	T	4: 63,061,934 (GRCm39)	C332S	probably damaging	Het
App	T	C	16: 84,970,407 (GRCm39)	T14A	probably benign	Het
Asap1	A	T	15: 63,995,519 (GRCm39)		probably null	Het
Aurka	T	C	2: 172,201,778 (GRCm39)	R242G	probably benign	Het
BC034090	G	A	1: 155,093,217 (GRCm39)	P747L	probably damaging	Het
Bcl6b	T	C	11: 70,119,918 (GRCm39)	D23G	probably damaging	Het
Cabp2	A	C	19: 4,134,154 (GRCm39)	E42A	possibly damaging	Het
Ccdc14	G	A	16: 34,542,173 (GRCm39)	S557N	probably benign	Het
Ccdc146	G	T	5: 21,524,604 (GRCm39)		probably benign	Het
Cenpf	T	A	1: 189,412,615 (GRCm39)	Q216L	probably damaging	Het
Ces1b	G	A	8: 93,783,675 (GRCm39)	P515L	possibly damaging	Het
Col6a5	A	T	9: 105,755,829 (GRCm39)	N2198K	probably damaging	Het
Csmd2	A	G	4: 128,288,859 (GRCm39)	S1133G	possibly damaging	Het
Cyp2g1	A	G	7: 26,514,229 (GRCm39)		probably benign	Het
Dnajc27	A	G	12: 4,146,229 (GRCm39)	Y86C	probably damaging	Het
Dnm1	T	C	2: 32,202,783 (GRCm39)	D715G	probably damaging	Het
Dock1	G	T	7: 134,734,804 (GRCm39)	L1317F	possibly damaging	Het
Fanci	T	A	7: 79,083,279 (GRCm39)	Y727*	probably null	Het
Fbxw20	T	A	9: 109,055,046 (GRCm39)	T168S	probably benign	Het
Folh1	A	T	7: 86,385,723 (GRCm39)		probably benign	Het
Gas7	A	T	11: 67,573,557 (GRCm39)	S379C	probably damaging	Het
Gbp2b	A	G	3: 142,309,987 (GRCm39)	E259G	probably benign	Het
Gm8325	T	C	3: 60,784,805 (GRCm39)		noncoding transcript	Het
Gpr75	A	T	11: 30,841,730 (GRCm39)	T212S	probably benign	Het
Itgb4	A	G	11: 115,898,795 (GRCm39)	T1711A	probably damaging	Het
Ly75	T	C	2: 60,184,796 (GRCm39)	S453G	probably benign	Het
Maneal	A	G	4: 124,754,276 (GRCm39)		probably benign	Het
Marco	A	T	1: 120,422,508 (GRCm39)	I58N	possibly damaging	Het
Mtcl1	A	G	17: 66,686,965 (GRCm39)	I647T	probably damaging	Het
Mtfr1l	A	T	4: 134,258,054 (GRCm39)	V56D	probably damaging	Het
Npy1r	G	A	8: 67,156,954 (GRCm39)	V125I	probably damaging	Het
Or1j19	C	T	2: 36,676,557 (GRCm39)	Q7*	probably null	Het
Or52n20	T	C	7: 104,320,888 (GRCm39)		probably benign	Het
Or7g25	A	G	9: 19,159,960 (GRCm39)	L245P	probably damaging	Het
Osmr	A	T	15: 6,867,210 (GRCm39)	L362*	probably null	Het
Pdlim2	T	C	14: 70,411,906 (GRCm39)	D42G	probably damaging	Het
Plcb4	T	A	2: 135,842,100 (GRCm39)	I89N	possibly damaging	Het
Prrc2b	T	A	2: 32,104,047 (GRCm39)	M1175K	probably benign	Het
Pzp	T	A	6: 128,463,133 (GRCm39)	N1423I	probably benign	Het
Retnla	G	A	16: 48,664,561 (GRCm39)	C105Y	probably damaging	Het
Samd8	T	A	14: 21,825,544 (GRCm39)	S167T	possibly damaging	Het
Scg2	A	G	1: 79,414,210 (GRCm39)	M171T	possibly damaging	Het
Slc30a5	A	G	13: 100,939,941 (GRCm39)	V658A	probably damaging	Het
Slc41a2	T	C	10: 83,152,455 (GRCm39)	R7G	possibly damaging	Het
Slc44a2	A	G	9: 21,258,338 (GRCm39)	T500A	probably damaging	Het
Slc44a4	G	T	17: 35,142,786 (GRCm39)	G396V	possibly damaging	Het
Smarca5	A	G	8: 81,446,199 (GRCm39)		probably benign	Het
St8sia6	T	A	2: 13,798,156 (GRCm39)	R34W	probably damaging	Het
Stk-ps2	T	A	1: 46,069,337 (GRCm39)		noncoding transcript	Het
Stn1	T	C	19: 47,502,329 (GRCm39)	Y235C	probably damaging	Het
Tbx15	A	G	3: 99,259,800 (GRCm39)	Y557C	probably damaging	Het
Tgfbr1	G	A	4: 47,393,490 (GRCm39)		probably null	Het
Thsd7b	G	T	1: 129,523,508 (GRCm39)	V181L	probably damaging	Het
Tmpo	G	A	10: 90,999,104 (GRCm39)	R228C	probably benign	Het
Trpm4	T	G	7: 44,976,422 (GRCm39)	R51S	probably damaging	Het
Vmn1r91	A	T	7: 19,835,671 (GRCm39)	T197S	probably damaging	Het
Vmn2r-ps158	T	C	7: 42,697,160 (GRCm39)	I739T	probably damaging	Het
Xrn1	A	G	9: 95,859,880 (GRCm39)	D424G	probably benign	Het
Yap1	A	G	9: 7,962,282 (GRCm39)		probably null	Het
Zer1	T	C	2: 30,003,405 (GRCm39)	D4G	probably damaging	Het
Zfp462	A	T	4: 55,010,292 (GRCm39)	I753F	possibly damaging	Het

Other mutations in Cspg5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01304:Cspg5	APN	9	110,085,236 (GRCm39)	missense	probably damaging	1.00
IGL01516:Cspg5	APN	9	110,075,761 (GRCm39)	missense	probably benign	0.37
IGL01800:Cspg5	APN	9	110,080,218 (GRCm39)	splice site	probably benign
IGL01927:Cspg5	APN	9	110,091,152 (GRCm39)	missense	probably damaging	0.99
IGL02164:Cspg5	APN	9	110,080,104 (GRCm39)	missense	probably damaging	0.98
IGL02421:Cspg5	APN	9	110,076,460 (GRCm39)	critical splice donor site	probably benign
R0106:Cspg5	UTSW	9	110,075,600 (GRCm39)	missense	probably damaging	0.96
R0540:Cspg5	UTSW	9	110,076,460 (GRCm39)	critical splice donor site	probably null
R0905:Cspg5	UTSW	9	110,075,594 (GRCm39)	missense	probably damaging	0.99
R1772:Cspg5	UTSW	9	110,091,206 (GRCm39)	missense	probably damaging	1.00
R1959:Cspg5	UTSW	9	110,080,094 (GRCm39)	missense	probably damaging	1.00
R4356:Cspg5	UTSW	9	110,085,245 (GRCm39)	missense	probably damaging	1.00
R4771:Cspg5	UTSW	9	110,080,195 (GRCm39)	missense	probably damaging	1.00
R5345:Cspg5	UTSW	9	110,075,698 (GRCm39)	missense	probably benign	0.03
R5441:Cspg5	UTSW	9	110,075,711 (GRCm39)	missense	probably benign
R5474:Cspg5	UTSW	9	110,080,076 (GRCm39)	missense	probably damaging	1.00
R5946:Cspg5	UTSW	9	110,080,151 (GRCm39)	missense	probably damaging	0.99
R6890:Cspg5	UTSW	9	110,075,852 (GRCm39)	missense	probably damaging	0.98
R7028:Cspg5	UTSW	9	110,075,959 (GRCm39)	missense	possibly damaging	0.85
R7286:Cspg5	UTSW	9	110,076,023 (GRCm39)	missense	probably damaging	1.00
R7697:Cspg5	UTSW	9	110,085,294 (GRCm39)	missense	probably damaging	0.99
R7858:Cspg5	UTSW	9	110,080,134 (GRCm39)	missense	probably damaging	1.00
R8985:Cspg5	UTSW	9	110,085,502 (GRCm39)	missense	unknown
R9034:Cspg5	UTSW	9	110,080,089 (GRCm39)	missense	probably damaging	0.99
X0020:Cspg5	UTSW	9	110,076,241 (GRCm39)	missense	probably damaging	0.96
Z1176:Cspg5	UTSW	9	110,080,118 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16