Mutagenetix > Incidental Mutation

Incidental Mutation 'R1959:Cspg5'

218170

Institutional Source

Beutler Lab

Gene Symbol

Cspg5

Ensembl Gene

ENSMUSG00000032482

Gene Name

chondroitin sulfate proteoglycan 5

Synonyms

CALEB, NGC, neuroglycan C

MMRRC Submission

039973-MU

Accession Numbers

Essential gene?

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

Stock #

R1959 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

110072851-110091644 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 110080094 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 340 (V340M)

Ref Sequence

ENSEMBL: ENSMUSP00000142845 (fasta)

Gene Model

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

AlphaFold

Q71M36

Predicted Effect

probably damaging
Transcript: ENSMUST00000035058
AA Change: V421M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000035058
Gene: ENSMUSG00000032482
AA Change: V421M

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 damaging
Transcript: ENSMUST00000196060
AA Change: V421M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000143164
Gene: ENSMUSG00000032482
AA Change: V421M

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 damaging
Transcript: ENSMUST00000197850
AA Change: V421M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000143005
Gene: ENSMUSG00000032482
AA Change: V421M

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 damaging
Transcript: ENSMUST00000199736
AA Change: V340M

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

SMART Domains

Protein: ENSMUSP00000142845
Gene: ENSMUSG00000032482
AA Change: V340M

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

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.2%

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: 130 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	T	C	16: 14,214,257 (GRCm39)	Y191H	probably damaging	Het
Aco1	T	C	4: 40,167,193 (GRCm39)		probably null	Het
Adap1	A	G	5: 139,259,096 (GRCm39)	Y364H	probably benign	Het
Add2	T	C	6: 86,073,738 (GRCm39)	F209S	probably damaging	Het
Adgb	A	T	10: 10,270,993 (GRCm39)	D883E	probably benign	Het
Anapc1	C	A	2: 128,475,335 (GRCm39)	R1381S	probably benign	Het
Aoah	A	G	13: 20,978,564 (GRCm39)	M1V	probably null	Het
Arap1	C	A	7: 101,022,222 (GRCm39)	A8E	probably damaging	Het
Arhgap10	A	G	8: 78,136,255 (GRCm39)	F319S	possibly damaging	Het
Btrc	T	G	19: 45,515,782 (GRCm39)	I480S	probably damaging	Het
Cabin1	A	T	10: 75,570,924 (GRCm39)	V784E	possibly damaging	Het
Card9	T	A	2: 26,244,885 (GRCm39)		probably null	Het
Cdk18	A	G	1: 132,045,559 (GRCm39)	I238T	possibly damaging	Het
Clec12a	A	C	6: 129,327,444 (GRCm39)	T21P	possibly damaging	Het
Commd3	A	T	2: 18,678,774 (GRCm39)	I70F	probably benign	Het
Cyb5r4	G	A	9: 86,937,902 (GRCm39)	S307N	possibly damaging	Het
Cyp26c1	T	A	19: 37,675,825 (GRCm39)	F230I	probably damaging	Het
Ddx11	A	G	17: 66,437,723 (GRCm39)	M150V	probably benign	Het
Dennd4b	A	G	3: 90,176,080 (GRCm39)	Y190C	probably damaging	Het
Det1	A	G	7: 78,493,191 (GRCm39)	V271A	probably benign	Het
Dgkd	C	A	1: 87,857,549 (GRCm39)	P754T	possibly damaging	Het
Dhx36	T	C	3: 62,386,806 (GRCm39)	S649G	probably benign	Het
Dlgap5	A	G	14: 47,653,843 (GRCm39)	I62T	possibly damaging	Het
Dmgdh	A	G	13: 93,857,067 (GRCm39)	M724V	probably benign	Het
Dnah7a	A	G	1: 53,724,142 (GRCm39)	S108P	probably benign	Het
Dock4	A	T	12: 40,760,797 (GRCm39)	K495M	probably damaging	Het
Dse	A	G	10: 34,036,202 (GRCm39)	Y225H	probably damaging	Het
Emx1	G	A	6: 85,180,916 (GRCm39)	R211K	probably damaging	Het
Ergic2	A	G	6: 148,100,852 (GRCm39)		probably null	Het
Fbxo27	G	A	7: 28,397,797 (GRCm39)	C277Y	possibly damaging	Het
Fcrl1	T	C	3: 87,283,827 (GRCm39)	I9T	possibly damaging	Het
Fjx1	T	C	2: 102,281,152 (GRCm39)	E261G	probably benign	Het
Flacc1	A	T	1: 58,698,437 (GRCm39)	V327D	possibly damaging	Het
Flnb	C	T	14: 7,884,735 (GRCm38)	Q445*	probably null	Het
Flrt2	G	A	12: 95,747,074 (GRCm39)	V471I	probably benign	Het
Frmd4a	G	A	2: 4,539,997 (GRCm39)	V210M	probably damaging	Het
Fsip2	A	G	2: 82,821,894 (GRCm39)	K5876E	probably benign	Het
Galnt10	T	C	11: 57,656,443 (GRCm39)	L209P	probably damaging	Het
Gata5	A	T	2: 179,968,729 (GRCm39)	S382T	possibly damaging	Het
Glt6d1	C	A	2: 25,684,425 (GRCm39)	V194L	probably damaging	Het
Gm10803	T	G	2: 93,394,288 (GRCm39)	V20G	unknown	Het
Gm44511	T	G	6: 128,797,234 (GRCm39)	T52P	probably damaging	Het
Gpat4	A	T	8: 23,672,952 (GRCm39)	L88Q	possibly damaging	Het
Gpr15	T	A	16: 58,538,370 (GRCm39)	I240L	probably benign	Het
Hivep2	A	T	10: 14,008,453 (GRCm39)	I1684F	probably benign	Het
Hmcn1	T	C	1: 150,525,427 (GRCm39)	T3366A	probably benign	Het
Hnmt	A	G	2: 23,893,894 (GRCm39)	V200A	possibly damaging	Het
Hps6	A	T	19: 45,992,774 (GRCm39)	H237L	probably benign	Het
Hspg2	C	T	4: 137,292,206 (GRCm39)	P4033S	probably damaging	Het
Ift70b	C	T	2: 75,767,443 (GRCm39)	E437K	probably benign	Het
Irf9	T	A	14: 55,845,174 (GRCm39)	S297T	possibly damaging	Het
Kdm3b	T	C	18: 34,945,448 (GRCm39)	V753A	possibly damaging	Het
Kif21a	G	A	15: 90,855,051 (GRCm39)	A703V	probably damaging	Het
Kif27	T	G	13: 58,440,937 (GRCm39)	R1159S	probably benign	Het
Krtap4-16	A	G	11: 99,742,373 (GRCm39)	V9A	unknown	Het
Lama2	G	T	10: 27,298,614 (GRCm39)	P161T	probably damaging	Het
Ltbp4	G	A	7: 27,028,443 (GRCm39)	P273L	unknown	Het
Lvrn	T	A	18: 47,027,784 (GRCm39)	S866R	probably damaging	Het
Med13	A	G	11: 86,189,805 (GRCm39)	Y1035H	probably damaging	Het
Mertk	T	A	2: 128,601,010 (GRCm39)	N331K	probably damaging	Het
Mios	T	A	6: 8,215,437 (GRCm39)	F211Y	probably benign	Het
Mpeg1	G	A	19: 12,440,275 (GRCm39)	V578M	probably damaging	Het
Mphosph9	A	T	5: 124,453,764 (GRCm39)	S183T	possibly damaging	Het
Mrto4	A	T	4: 139,076,949 (GRCm39)	I56N	probably damaging	Het
Muc5b	T	C	7: 141,416,374 (GRCm39)	C3107R	possibly damaging	Het
Ncoa2	A	G	1: 13,230,476 (GRCm39)	Y1023H	probably damaging	Het
Nlrp2	T	C	7: 5,330,737 (GRCm39)	E553G	probably damaging	Het
Nlrp6	GAGAAGAAGAAGAAGAAGAAGA	GAGAAGAAGAAGAAGAAGA	7: 140,504,026 (GRCm39)		probably benign	Het
Nr2f1	T	C	13: 78,337,935 (GRCm39)	T237A	probably damaging	Het
Nup205	C	A	6: 35,210,301 (GRCm39)	Q1621K	probably benign	Het
Nup50l	A	G	6: 96,142,250 (GRCm39)	S265P	possibly damaging	Het
Nxpe2	T	A	9: 48,231,026 (GRCm39)	S448C	probably benign	Het
Ogdh	T	A	11: 6,296,638 (GRCm39)	C498S	possibly damaging	Het
Oplah	G	A	15: 76,181,664 (GRCm39)	T1119I	probably damaging	Het
Or14a256	A	T	7: 86,265,639 (GRCm39)	F71L	probably benign	Het
Or2ag15	T	C	7: 106,340,601 (GRCm39)	E180G	probably damaging	Het
Or2d2	A	T	7: 106,727,717 (GRCm39)	D294E	possibly damaging	Het
Or5ak24	T	C	2: 85,260,963 (GRCm39)	D70G	probably damaging	Het
Or5d46	T	C	2: 88,170,545 (GRCm39)	L212P	probably damaging	Het
Or6p1	A	T	1: 174,258,471 (GRCm39)	K159M	probably damaging	Het
Or8s8	T	C	15: 98,354,634 (GRCm39)	S148P	probably damaging	Het
Pcdhb9	T	A	18: 37,536,369 (GRCm39)	Y788N	probably damaging	Het
Pcsk5	T	C	19: 17,410,782 (GRCm39)	D1870G	unknown	Het
Pde6g	A	G	11: 120,338,962 (GRCm39)	L76P	probably damaging	Het
Peak1	A	T	9: 56,114,073 (GRCm39)	Y593N	probably damaging	Het
Pfas	C	T	11: 68,885,110 (GRCm39)	G16R	probably damaging	Het
Pkd1l2	A	T	8: 117,769,970 (GRCm39)		probably null	Het
Pla2g3	C	T	11: 3,440,983 (GRCm39)	T316I	probably benign	Het
Ptpru	T	A	4: 131,530,788 (GRCm39)	I489F	probably damaging	Het
Rere	T	G	4: 150,553,247 (GRCm39)	H146Q	probably benign	Het
Rundc1	A	T	11: 101,322,322 (GRCm39)	Q272L	probably damaging	Het
Scml4	T	C	10: 42,832,017 (GRCm39)	L305P	probably damaging	Het
Sec16a	A	T	2: 26,320,144 (GRCm39)	H1431Q	probably benign	Het
Serpina1a	G	A	12: 103,820,059 (GRCm39)	Q373*	probably null	Het
Shank1	A	T	7: 43,974,801 (GRCm39)	N377I	unknown	Het
Shc2	T	C	10: 79,462,625 (GRCm39)		probably null	Het
Slc22a29	C	A	19: 8,146,557 (GRCm39)	R415M	probably benign	Het
Slc7a2	A	T	8: 41,368,002 (GRCm39)	I589F	probably damaging	Het
Smim8	C	T	4: 34,771,316 (GRCm39)	R26Q	probably damaging	Het
Smox	C	A	2: 131,362,384 (GRCm39)	A221D	probably damaging	Het
Sox5	A	G	6: 143,819,831 (GRCm39)	S62P	possibly damaging	Het
Spg21	A	C	9: 65,391,774 (GRCm39)	K240N	probably damaging	Het
Sv2c	C	T	13: 96,113,153 (GRCm39)	V599M	probably damaging	Het
Tanc2	T	A	11: 105,801,121 (GRCm39)	H1112Q	probably damaging	Het
Tbata	T	C	10: 61,011,623 (GRCm39)	I58T	possibly damaging	Het
Tbc1d2	T	G	4: 46,606,419 (GRCm39)	Y842S	probably benign	Het
Tctn1	A	T	5: 122,379,903 (GRCm39)		probably null	Het
Tenm1	T	C	X: 41,916,078 (GRCm39)	D402G	probably benign	Het
Tfcp2l1	T	C	1: 118,597,119 (GRCm39)	V400A	probably benign	Het
Tm9sf2	T	A	14: 122,363,576 (GRCm39)	L99I	probably benign	Het
Top2a	T	C	11: 98,886,803 (GRCm39)		probably null	Het
Traf7	C	A	17: 24,732,255 (GRCm39)	G191C	probably damaging	Het
Trpm1	T	A	7: 63,879,978 (GRCm39)	L661Q	probably damaging	Het
Ttn	T	C	2: 76,580,967 (GRCm39)	I23309V	probably benign	Het
Usp50	T	C	2: 126,619,881 (GRCm39)	K199E	possibly damaging	Het
Vmn1r218	T	C	13: 23,320,683 (GRCm39)	F10S	probably damaging	Het
Vmn2r89	C	A	14: 51,694,897 (GRCm39)	T459K	probably benign	Het
Vps13a	T	G	19: 16,655,302 (GRCm39)	S1909R	possibly damaging	Het
Vwa5b2	T	C	16: 20,420,941 (GRCm39)		probably null	Het
Vwa8	A	G	14: 79,219,800 (GRCm39)	H516R	possibly damaging	Het
Wnk1	T	C	6: 119,946,208 (GRCm39)	I648M	probably damaging	Het
Zfat	G	C	15: 68,018,392 (GRCm39)	P974R	probably benign	Het
Zfc3h1	T	A	10: 115,259,158 (GRCm39)	I1601K	probably benign	Het
Zfp239	A	G	6: 117,848,778 (GRCm39)	K172R	probably benign	Het
Zfp335	C	T	2: 164,736,722 (GRCm39)	G971D	probably damaging	Het
Zfp532	A	T	18: 65,757,563 (GRCm39)	I499F	probably damaging	Het
Zfp647	T	C	15: 76,795,314 (GRCm39)	T449A	possibly damaging	Het
Zfp938	C	T	10: 82,061,465 (GRCm39)	G385D	probably damaging	Het
Zfp959	T	G	17: 56,204,404 (GRCm39)	V147G	probably damaging	Het
Znfx1	A	T	2: 166,892,270 (GRCm39)	C649S	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
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

Predicted Primers

PCR Primer
(F):5'- CCTCAGAGCAGGCTATTGAG -3'
(R):5'- AACTTTTAGCATGAGCCAAAGGG -3'

Sequencing Primer
(F):5'- CCTCAGAGCAGGCTATTGAGTTGAG -3'
(R):5'- CTAGAGAACAGGTGCCAGACC -3'

Posted On

2014-08-01