Mutagenetix > Incidental Mutation

Incidental Mutation 'R9034:Cspg5'

687232

Institutional Source

Beutler Lab

Gene Symbol

Cspg5

Ensembl Gene

ENSMUSG00000032482

Gene Name

chondroitin sulfate proteoglycan 5

Synonyms

CALEB, NGC, neuroglycan C

MMRRC Submission

068863-MU

Accession Numbers

Essential gene?

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

Stock #

R9034 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110072851-110091644 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 110080089 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 419 (F419S)

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: F419S

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000035058
Gene: ENSMUSG00000032482
AA Change: F419S

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: F419S

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

SMART Domains

Protein: ENSMUSP00000143164
Gene: ENSMUSG00000032482
AA Change: F419S

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: F419S

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

SMART Domains

Protein: ENSMUSP00000143005
Gene: ENSMUSG00000032482
AA Change: F419S

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: F338S

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

SMART Domains

Protein: ENSMUSP00000142845
Gene: ENSMUSG00000032482
AA Change: F338S

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: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

95% (57/60)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	T	C	11: 110,039,615 (GRCm39)	D466G	probably benign	Het
Acvr2a	T	C	2: 48,763,381 (GRCm39)	Y142H	probably damaging	Het
Agfg1	C	T	1: 82,853,913 (GRCm39)	Q188*	probably null	Het
Akap11	C	A	14: 78,748,299 (GRCm39)	V1363F		Het
Aldh3a1	A	G	11: 61,104,475 (GRCm39)	T121A	probably benign	Het
Arid1b	T	A	17: 5,387,180 (GRCm39)	D1491E	probably benign	Het
Baz2a	A	G	10: 127,952,268 (GRCm39)	T617A	probably damaging	Het
Cacna1c	T	C	6: 118,728,359 (GRCm39)	M362V		Het
Cant1	T	A	11: 118,302,128 (GRCm39)	H63L	probably benign	Het
Cdkn2aip	C	A	8: 48,164,243 (GRCm39)	C490F	probably damaging	Het
Cenpn	T	A	8: 117,661,478 (GRCm39)	D192E	probably benign	Het
Clint1	C	A	11: 45,799,782 (GRCm39)	L514M	probably benign	Het
Clint1	T	A	11: 45,799,783 (GRCm39)	L514Q	possibly damaging	Het
Cmklr1	G	C	5: 113,752,043 (GRCm39)	H319Q	probably benign	Het
Ehmt2	C	A	17: 35,122,417 (GRCm39)	A328E	probably benign	Het
Ercc6l2	T	C	13: 63,992,447 (GRCm39)	S299P	probably damaging	Het
F13b	T	C	1: 139,435,961 (GRCm39)	C256R	probably damaging	Het
F830016B08Rik	A	G	18: 60,433,141 (GRCm39)	T75A	probably damaging	Het
Fam227a	T	C	15: 79,532,952 (GRCm39)	M69V	probably benign	Het
Gm40460	GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG	GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG	7: 141,794,171 (GRCm39)		probably benign	Het
Grin2c	C	T	11: 115,142,065 (GRCm39)	E785K	probably damaging	Het
H2-M2	A	T	17: 37,792,176 (GRCm39)	S325T	probably benign	Het
Hmgcr	A	G	13: 96,795,885 (GRCm39)	S261P	probably damaging	Het
Impg1	T	A	9: 80,347,351 (GRCm39)		probably benign	Het
Irag2	T	C	6: 145,083,273 (GRCm39)	V4A	probably benign	Het
Krit1	A	G	5: 3,862,996 (GRCm39)		probably benign	Het
Krtap26-1	A	T	16: 88,444,161 (GRCm39)	N153K	probably benign	Het
Mfsd14b	G	T	13: 65,223,500 (GRCm39)	A178E	probably damaging	Het
Muc4	CAC	CACTAC	16: 32,575,367 (GRCm39)		probably benign	Het
Myh6	A	T	14: 55,185,596 (GRCm39)	I1531N	possibly damaging	Het
Myo7a	G	T	7: 97,728,465 (GRCm39)	A836D	probably benign	Het
Ncam1	A	T	9: 49,481,198 (GRCm39)	S19T	probably benign	Het
Nes	T	A	3: 87,885,735 (GRCm39)	D1331E	probably damaging	Het
Nsd2	G	A	5: 34,037,478 (GRCm39)	R700Q	possibly damaging	Het
Nxt1	A	T	2: 148,517,331 (GRCm39)	Y24F	possibly damaging	Het
Or14c39	G	A	7: 86,343,969 (GRCm39)	V102I	probably benign	Het
Or52n4	T	A	7: 104,293,835 (GRCm39)	H248L	probably damaging	Het
Or5g24-ps1	A	T	2: 85,464,144 (GRCm39)	T124S	probably benign	Het
Or6f2	G	A	7: 139,756,884 (GRCm39)	V284I	probably benign	Het
Or8b40	G	A	9: 38,027,550 (GRCm39)	V158M	possibly damaging	Het
Or8g50	G	A	9: 39,648,886 (GRCm39)	M258I	probably benign	Het
Or9g20	G	T	2: 85,630,302 (GRCm39)	A104E	possibly damaging	Het
Pex5l	T	A	3: 33,006,683 (GRCm39)	Q562L	probably damaging	Het
Plxna2	A	G	1: 194,476,197 (GRCm39)	Y1139C	probably damaging	Het
Prelp	T	C	1: 133,842,329 (GRCm39)	N272S	probably damaging	Het
Rtkn2	A	G	10: 67,841,416 (GRCm39)	K188R	probably damaging	Het
Sbno2	G	A	10: 79,898,591 (GRCm39)	R624W	probably damaging	Het
Scn8a	T	A	15: 100,927,642 (GRCm39)	C1374S	probably damaging	Het
Serpina1e	T	A	12: 103,917,361 (GRCm39)	T103S	probably benign	Het
Sh3tc2	A	G	18: 62,107,571 (GRCm39)	E194G	probably benign	Het
Slc36a3	A	T	11: 55,016,515 (GRCm39)	I360N	probably damaging	Het
Sphk1	T	C	11: 116,426,449 (GRCm39)	V135A	probably damaging	Het
Tnfsf10	G	A	3: 27,389,379 (GRCm39)	D147N	probably benign	Het
Tnip2	C	T	5: 34,671,177 (GRCm39)	C22Y	probably damaging	Het
Trmt9b	C	T	8: 36,978,954 (GRCm39)	R186*	probably null	Het
Trp73	T	C	4: 154,152,088 (GRCm39)	T187A	probably benign	Het
Tspan33	C	T	6: 29,717,611 (GRCm39)	Q276*	probably null	Het
Ttn	C	T	2: 76,542,871 (GRCm39)	G33372R	probably damaging	Het
Vmn2r31	T	A	7: 7,397,680 (GRCm39)	T193S	probably benign	Het
Vps54	T	C	11: 21,213,273 (GRCm39)	F19L	probably benign	Het
Vwa8	A	G	14: 79,296,179 (GRCm39)	T856A	probably damaging	Het
Zscan4b	A	T	7: 10,634,840 (GRCm39)	Y468N	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
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
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'- GTCCTCAGAGCAGGCTATTGAG -3'
(R):5'- CTTTTAGCATGAGCCAAAGGG -3'

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

Posted On

2021-11-19