Mutagenetix > Incidental Mutation

Incidental Mutation 'R7697:Cspg5'

593719

Institutional Source

Beutler Lab

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: 0.260) question?

Stock #

R7697 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

110072851-110091644 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 110085294 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 488 (R488S)

Ref Sequence

ENSEMBL: ENSMUSP00000035058 (fasta)

Gene Model

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

AlphaFold

Q71M36

Predicted Effect

probably damaging
Transcript: ENSMUST00000035058
AA Change: R488S

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000035058
Gene: ENSMUSG00000032482
AA Change: R488S

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 damaging
Transcript: ENSMUST00000197850
AA Change: R488S

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

SMART Domains

Protein: ENSMUSP00000143005
Gene: ENSMUSG00000032482
AA Change: R488S

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd4	T	C	14: 54,500,216 (GRCm39)	V87A	probably damaging	Het
Acadsb	A	G	7: 131,031,698 (GRCm39)	E178G	probably damaging	Het
Acoxl	A	G	2: 127,820,702 (GRCm39)	T365A	probably benign	Het
Adcy8	T	G	15: 64,618,850 (GRCm39)	I768L	probably benign	Het
Bloc1s4	A	G	5: 36,905,959 (GRCm39)	S11P	probably benign	Het
Brinp2	T	C	1: 158,095,496 (GRCm39)	I122V	probably benign	Het
Brwd1	T	C	16: 95,847,601 (GRCm39)	D673G	probably benign	Het
Cbx8	C	A	11: 118,931,637 (GRCm39)	E14*	probably null	Het
Cep295	T	A	9: 15,266,006 (GRCm39)	M49L	probably benign	Het
Cfap157	T	C	2: 32,669,765 (GRCm39)	N273D	probably benign	Het
Cntn3	A	T	6: 102,185,127 (GRCm39)	V663E	probably damaging	Het
Cntn3	C	T	6: 102,185,128 (GRCm39)	V663M	probably damaging	Het
Csrnp2	A	T	15: 100,385,953 (GRCm39)	M95K	probably damaging	Het
Dnah3	A	T	7: 119,566,657 (GRCm39)	V136E		Het
Drg2	T	A	11: 60,353,003 (GRCm39)	I212N	probably damaging	Het
Egfem1	T	C	3: 29,744,346 (GRCm39)		probably null	Het
Eif1ad18	T	C	12: 88,050,749 (GRCm39)	Y95H	probably damaging	Het
Enpep	T	A	3: 129,102,750 (GRCm39)	D402V	probably damaging	Het
Fanci	T	A	7: 79,056,040 (GRCm39)		probably null	Het
Fgd6	T	A	10: 93,881,306 (GRCm39)	V720D	probably damaging	Het
Fhod1	T	A	8: 106,074,563 (GRCm39)		probably benign	Het
Flnc	T	A	6: 29,456,516 (GRCm39)	I2238N	probably damaging	Het
Frmd4a	A	G	2: 4,488,892 (GRCm39)	E79G	probably damaging	Het
Gabrr2	A	T	4: 33,071,358 (GRCm39)	Y66F	probably benign	Het
Ggnbp1	T	G	17: 27,249,736 (GRCm39)	I192S	probably benign	Het
Gm32742	C	T	9: 51,058,901 (GRCm39)	V1039I	probably benign	Het
H2-D1	T	C	17: 35,482,121 (GRCm39)	L11P	probably damaging	Het
Hsd17b4	A	G	18: 50,263,208 (GRCm39)	Y25C	probably damaging	Het
Ildr2	C	A	1: 166,122,300 (GRCm39)	Q248K	probably benign	Het
Klrb1c	T	C	6: 128,757,273 (GRCm39)	H264R	probably benign	Het
Lrp11	C	T	10: 7,479,983 (GRCm39)	A346V	probably benign	Het
Mast4	G	A	13: 102,875,711 (GRCm39)	P1319L	probably damaging	Het
Mcm9	A	C	10: 53,491,990 (GRCm39)	F392V		Het
Med12l	C	T	3: 59,148,078 (GRCm39)	A965V	probably damaging	Het
Mrps7	A	G	11: 115,495,701 (GRCm39)	T80A	probably benign	Het
Mtor	T	A	4: 148,624,765 (GRCm39)	Y2125*	probably null	Het
Myoc	A	G	1: 162,475,049 (GRCm39)	E200G	probably damaging	Het
Natd1	A	G	11: 60,797,808 (GRCm39)	V39A	probably damaging	Het
Notch4	C	T	17: 34,789,159 (GRCm39)	T486I	probably damaging	Het
Or10am5	T	C	7: 6,517,645 (GRCm39)	Y261C	probably damaging	Het
Or10n1	A	G	9: 39,525,157 (GRCm39)	Q98R	probably damaging	Het
Or2c1	G	A	16: 3,657,430 (GRCm39)	V198M	probably damaging	Het
Or5aq6	T	A	2: 86,923,162 (GRCm39)	H193L	probably benign	Het
Pdss2	T	A	10: 43,221,544 (GRCm39)	I152N	probably damaging	Het
Peg10	C	CTCA	6: 4,756,453 (GRCm39)		probably benign	Het
Plec	T	C	15: 76,065,885 (GRCm39)	E1395G	unknown	Het
Polr2b	T	C	5: 77,468,059 (GRCm39)	Y120H	probably damaging	Het
Pyroxd2	C	T	19: 42,735,805 (GRCm39)	C99Y	probably benign	Het
Rela	T	C	19: 5,691,630 (GRCm39)	V268A	probably damaging	Het
Rgs3	C	T	4: 62,575,379 (GRCm39)	P589S	probably benign	Het
Rtn1	A	G	12: 72,455,151 (GRCm39)	S59P	probably benign	Het
Siae	A	G	9: 37,544,950 (GRCm39)	Y315C	probably damaging	Het
Susd3	C	A	13: 49,391,074 (GRCm39)	W147L	probably damaging	Het
Ttn	A	T	2: 76,702,047 (GRCm39)		probably null	Het
Ubr3	A	G	2: 69,728,030 (GRCm39)	Y131C	probably damaging	Het
Unc80	C	T	1: 66,677,104 (GRCm39)	P2011L	possibly damaging	Het
Usp9y	T	C	Y: 1,316,990 (GRCm39)	E1853G	possibly damaging	Het
Wls	C	A	3: 159,616,955 (GRCm39)	H331Q	probably benign	Het
Xkr6	C	A	14: 63,844,628 (GRCm39)	P217Q	probably 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
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
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
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'- TTTACTCCCAAGGGCAAGTC -3'
(R):5'- TGACTGCCTACTCTGAGACAGG -3'

Sequencing Primer
(F):5'- CAGGCCTGGTGCATCTTAC -3'
(R):5'- CCTACTCTGAGACAGGGCAAG -3'

Posted On

2019-11-12