Mutagenetix > Incidental Mutation

Incidental Mutation 'R5345:Cspg5'

422563

Institutional Source

Beutler Lab

Gene Symbol

Cspg5

Ensembl Gene

ENSMUSG00000032482

Gene Name

chondroitin sulfate proteoglycan 5

Synonyms

CALEB, NGC, neuroglycan C

MMRRC Submission

042924-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.260) question?

Stock #

R5345 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

110072851-110091644 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 110075698 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 145 (M145L)

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: M145L

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000035058
Gene: ENSMUSG00000032482
AA Change: M145L

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
AA Change: M145L

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000143164
Gene: ENSMUSG00000032482
AA Change: M145L

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

noncoding transcript
Transcript: ENSMUST00000196176

Predicted Effect

probably benign
Transcript: ENSMUST00000197850
AA Change: M145L

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000143005
Gene: ENSMUSG00000032482
AA Change: M145L

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
AA Change: M64L

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000142845
Gene: ENSMUSG00000032482
AA Change: M64L

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

Meta Mutation Damage Score

0.1428

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 96.0%

Validation Efficiency

98% (65/66)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abl1	T	A	2: 31,687,059 (GRCm39)	S519T	probably damaging	Het
Acap2	A	G	16: 30,926,944 (GRCm39)	S524P	probably benign	Het
Acot1	T	A	12: 84,063,942 (GRCm39)	I350N	probably damaging	Het
Adam8	A	G	7: 139,567,552 (GRCm39)	V397A	probably benign	Het
Ankar	A	G	1: 72,709,310 (GRCm39)	M735T	possibly damaging	Het
Cacna1c	A	G	6: 118,633,497 (GRCm39)		probably null	Het
Cdc25b	A	G	2: 131,034,516 (GRCm39)	S222G	probably benign	Het
Celsr3	T	C	9: 108,709,323 (GRCm39)	S1390P	probably damaging	Het
Clca4a	T	G	3: 144,676,222 (GRCm39)	D104A	probably damaging	Het
Clcn6	A	T	4: 148,123,206 (GRCm39)		probably benign	Het
Coq8b	A	G	7: 26,949,773 (GRCm39)	T320A	probably benign	Het
Cyp2c67	T	A	19: 39,614,676 (GRCm39)	I284F	probably benign	Het
Eya4	T	C	10: 22,985,947 (GRCm39)	I565V	probably benign	Het
Fbxw11	A	G	11: 32,688,471 (GRCm39)	N410S	probably damaging	Het
Gabrb2	C	T	11: 42,517,636 (GRCm39)	A448V	possibly damaging	Het
Hectd4	A	G	5: 121,402,037 (GRCm39)	D375G	possibly damaging	Het
Itsn2	T	C	12: 4,722,783 (GRCm39)	V1073A	probably damaging	Het
Kif5c	A	G	2: 49,613,078 (GRCm39)	T139A	probably benign	Het
L1td1	G	A	4: 98,624,684 (GRCm39)	G293D	probably damaging	Het
Lama1	A	G	17: 68,124,558 (GRCm39)	M2873V	probably benign	Het
Msantd5f6	A	T	4: 73,319,514 (GRCm39)	W77R	probably damaging	Het
Myo15a	A	G	11: 60,388,364 (GRCm39)	R1960G	probably damaging	Het
Nbeal1	T	C	1: 60,367,369 (GRCm39)		probably null	Het
Ndufb4	A	G	16: 37,474,540 (GRCm39)		probably null	Het
Nup153	A	T	13: 46,840,341 (GRCm39)	L1089*	probably null	Het
Or10g3	G	A	14: 52,609,725 (GRCm39)	R262*	probably null	Het
Or2l13b	T	A	16: 19,349,527 (GRCm39)	I48F	probably damaging	Het
Or5aq1b	A	G	2: 86,901,836 (GRCm39)	V214A	possibly damaging	Het
P2rx1	A	G	11: 72,900,056 (GRCm39)	T158A	probably damaging	Het
Park7	A	G	4: 150,992,880 (GRCm39)		probably benign	Het
Parl	A	T	16: 20,116,892 (GRCm39)	F102I	probably damaging	Het
Plxnc1	T	A	10: 94,685,831 (GRCm39)	H720L	probably benign	Het
Ptpn4	A	G	1: 119,693,207 (GRCm39)	S140P	probably benign	Het
Rel	A	G	11: 23,692,462 (GRCm39)	S524P	probably benign	Het
Ripply2	A	G	9: 86,901,779 (GRCm39)		probably null	Het
Rmc1	C	T	18: 12,312,234 (GRCm39)	T158M	probably benign	Het
Rps4l-ps	T	C	7: 114,526,433 (GRCm39)		noncoding transcript	Het
Rtn4ip1	T	C	10: 43,808,466 (GRCm39)	L81P	probably damaging	Het
Sap130	T	C	18: 31,781,251 (GRCm39)	L138P	probably benign	Het
Scp2	A	T	4: 107,912,776 (GRCm39)		probably null	Het
Sec24c	T	A	14: 20,743,288 (GRCm39)	M970K	probably benign	Het
Setd5	C	T	6: 113,092,968 (GRCm39)	P340L	probably damaging	Het
Sgcg	A	T	14: 61,483,218 (GRCm39)	M61K	probably damaging	Het
Slc22a27	C	G	19: 7,843,303 (GRCm39)	A359P	probably damaging	Het
Slc34a1	A	G	13: 55,548,331 (GRCm39)	R21G	probably benign	Het
Slc7a14	A	C	3: 31,278,006 (GRCm39)	L533W	probably damaging	Het
Srsf9	A	G	5: 115,468,595 (GRCm39)	D77G	probably benign	Het
Tab1	A	T	15: 80,034,014 (GRCm39)	E119V	possibly damaging	Het
Tcstv5	A	T	13: 120,411,384 (GRCm39)	V74E	probably damaging	Het
Tnrc6c	C	T	11: 117,614,113 (GRCm39)	A757V	possibly damaging	Het
Tradd	A	T	8: 105,986,556 (GRCm39)	I72N	probably damaging	Het
Trbv12-1	C	T	6: 41,090,781 (GRCm39)	T51M	probably benign	Het
Tsga10	T	C	1: 37,802,392 (GRCm39)	K605E	probably damaging	Het
Vwc2l	A	G	1: 70,768,077 (GRCm39)	D47G	probably damaging	Het
Zfp647	T	A	15: 76,795,695 (GRCm39)	T322S	possibly damaging	Het
Zscan20	A	C	4: 128,481,914 (GRCm39)	S583A	probably benign	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
IGL02338:Cspg5	APN	9	110,085,335 (GRCm39)	missense	probably benign	0.04
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
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

Predicted Primers

PCR Primer
(F):5'- GAAGATGAGACCTCGTGGAC -3'
(R):5'- CAATGTCAATTATATCTGAGGCTGG -3'

Sequencing Primer
(F):5'- TGAGACCTCGTGGACAGAGC -3'
(R):5'- GTTGGGTCTCGAGAGTGCCC -3'

Posted On

2016-08-04