Mutagenetix > Incidental Mutation

Incidental Mutation 'R6125:Cspg4b'

487361

Institutional Source

Beutler Lab

Gene Symbol

Cspg4b

Ensembl Gene

ENSMUSG00000021763

Gene Name

chondroitin sulfate proteoglycan 4B

Synonyms

BC067074

MMRRC Submission

044272-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.222) question?

Stock #

R6125 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

113429570-113507049 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 113454217 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 88 (T88A)

Ref Sequence

ENSEMBL: ENSMUSP00000119993 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000136755]

AlphaFold

F6RXI4

Predicted Effect

probably benign
Transcript: ENSMUST00000136755
AA Change: T88A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000119993
Gene: ENSMUSG00000021763
AA Change: T88A

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
LamG	44	177	1.28e-20	SMART
LamG	229	371	4.66e-14	SMART
low complexity region	407	420	N/A	INTRINSIC
Pfam:Cadherin_3	492	644	2.1e-35	PFAM
Pfam:Cadherin_3	647	759	1e-7	PFAM
Pfam:Cadherin_3	741	873	1.2e-8	PFAM
Pfam:Cadherin_3	861	989	4.1e-14	PFAM
Pfam:Cadherin_3	958	1114	1.2e-20	PFAM
Pfam:Cadherin_3	1117	1223	1.6e-10	PFAM
Pfam:Cadherin_3	1212	1341	5.6e-12	PFAM
Pfam:Cadherin_3	1347	1438	3.8e-8	PFAM
Pfam:Cadherin_3	1419	1562	2.3e-45	PFAM
Pfam:Cadherin_3	1576	1679	2.1e-9	PFAM
low complexity region	1732	1740	N/A	INTRINSIC
Pfam:Cadherin_3	1773	1926	3e-35	PFAM
transmembrane domain	2267	2289	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.3%
20x: 91.5%

Validation Efficiency

97% (65/67)

Allele List at MGI

All alleles(2) : Targeted(2)

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef11	T	C	3: 87,636,909 (GRCm39)	F1023S	probably damaging	Het
Atp1a1	G	A	3: 101,498,023 (GRCm39)	R255C	probably damaging	Het
Bbs12	A	G	3: 37,374,700 (GRCm39)	I383V	probably benign	Het
Cacna1h	G	A	17: 25,604,668 (GRCm39)	P1215L	probably benign	Het
Calm5	A	T	13: 3,904,491 (GRCm39)	K62*	probably null	Het
Chd8	T	A	14: 52,444,491 (GRCm39)	H398L	probably benign	Het
Dlgap2	A	T	8: 14,777,193 (GRCm39)	H146L	possibly damaging	Het
Dop1a	G	A	9: 86,403,186 (GRCm39)	R1462H	probably damaging	Het
Dusp29	C	A	14: 21,736,758 (GRCm39)	V115L	probably benign	Het
Dync2h1	T	C	9: 7,168,706 (GRCm39)	N369S	probably damaging	Het
Fer1l4	A	C	2: 155,888,907 (GRCm39)	V422G	probably damaging	Het
Fstl4	T	C	11: 53,077,130 (GRCm39)	M629T	probably benign	Het
Galnt18	A	G	7: 111,084,400 (GRCm39)	Y507H	probably damaging	Het
Gar1	C	A	3: 129,624,399 (GRCm39)		probably benign	Het
Gm19402	T	C	10: 77,526,507 (GRCm39)	T29A	probably damaging	Het
Gm826	A	G	2: 160,169,034 (GRCm39)	F92L	unknown	Het
H1f0	T	A	15: 78,913,070 (GRCm39)	I50N	probably damaging	Het
H2-DMb1	A	G	17: 34,376,439 (GRCm39)	Y186C	probably damaging	Het
Hgf	A	G	5: 16,803,159 (GRCm39)	N357S	probably damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Hsf2	T	C	10: 57,388,101 (GRCm39)	V415A	probably benign	Het
Ins2	C	A	7: 142,233,430 (GRCm39)		probably null	Het
Kel	A	T	6: 41,667,720 (GRCm39)	F89L	probably damaging	Het
Lratd2	T	C	15: 60,695,146 (GRCm39)	N200S	probably damaging	Het
Lrrc37a	T	C	11: 103,392,386 (GRCm39)	D1013G	probably benign	Het
Ltbp4	C	A	7: 27,027,180 (GRCm39)	G397C	probably damaging	Het
Madd	A	G	2: 90,982,797 (GRCm39)		probably null	Het
Map4k4	A	G	1: 40,043,125 (GRCm39)	D660G	possibly damaging	Het
Mdm4	G	A	1: 132,922,248 (GRCm39)	T298I	possibly damaging	Het
Mlip	G	A	9: 77,137,764 (GRCm39)	S381L	probably damaging	Het
Mpdz	A	T	4: 81,215,764 (GRCm39)	C1487S	probably benign	Het
Mtus1	A	G	8: 41,537,576 (GRCm39)	S47P	probably damaging	Het
Nek1	T	C	8: 61,481,735 (GRCm39)	S217P	probably damaging	Het
Or10ag59	T	C	2: 87,405,590 (GRCm39)	I54T	probably benign	Het
Or5b123	C	T	19: 13,597,249 (GRCm39)	A241V	probably benign	Het
Pcdhb10	T	C	18: 37,546,679 (GRCm39)	V585A	possibly damaging	Het
Perm1	A	G	4: 156,302,176 (GRCm39)	E240G	probably benign	Het
Pkdrej	T	C	15: 85,700,585 (GRCm39)	T1784A	probably damaging	Het
Pnpla8	C	T	12: 44,354,772 (GRCm39)	T644M	possibly damaging	Het
Rgs2	T	C	1: 143,879,763 (GRCm39)	K32E	probably damaging	Het
Scyl3	A	T	1: 163,778,145 (GRCm39)	M428L	probably benign	Het
Slc30a8	A	G	15: 52,198,530 (GRCm39)	D325G	probably benign	Het
Slc5a9	G	T	4: 111,741,002 (GRCm39)	T548K	probably damaging	Het
Slc9b2	G	A	3: 135,036,457 (GRCm39)		probably null	Het
Slco3a1	C	T	7: 73,968,254 (GRCm39)	D489N	probably benign	Het
Slit3	T	C	11: 35,461,560 (GRCm39)		probably null	Het
Stk39	C	A	2: 68,222,468 (GRCm39)	G199C	probably damaging	Het
Tbx1	A	G	16: 18,402,216 (GRCm39)	F263L	probably damaging	Het
Tcf21	G	T	10: 22,695,665 (GRCm39)	N46K	probably benign	Het
Tdrd9	T	A	12: 112,034,632 (GRCm39)	M1357K	possibly damaging	Het
Tll1	A	G	8: 64,504,521 (GRCm39)	L625P	probably damaging	Het
Tmem131	G	A	1: 36,847,387 (GRCm39)	S1237L	possibly damaging	Het
Trdv5	T	C	14: 54,386,298 (GRCm39)	K56E	possibly damaging	Het
Triml2	G	A	8: 43,640,659 (GRCm39)	V172I	probably benign	Het
Trmt44	C	A	5: 35,722,842 (GRCm39)	D409Y	probably damaging	Het
Ube2o	C	T	11: 116,432,204 (GRCm39)	A921T	probably damaging	Het
Ube2o	T	C	11: 116,435,576 (GRCm39)	D404G	possibly damaging	Het
Ube4b	T	C	4: 149,483,203 (GRCm39)	T22A	probably benign	Het
Ugp2	A	T	11: 21,279,815 (GRCm39)	F327L	probably damaging	Het
Virma	T	C	4: 11,521,172 (GRCm39)	S910P	probably damaging	Het
Vmn2r9	A	G	5: 108,990,836 (GRCm39)	Y842H	probably benign	Het
Zfhx4	A	G	3: 5,463,871 (GRCm39)	D1368G	possibly damaging	Het
Zfp980	T	A	4: 145,429,208 (GRCm39)	*646R	probably null	Het
Zranb3	T	A	1: 127,887,482 (GRCm39)	N982Y	probably benign	Het

Other mutations in Cspg4b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01723:Cspg4b	APN	13	113,504,091 (GRCm39)	missense	possibly damaging	0.91
IGL03023:Cspg4b	APN	13	113,488,275 (GRCm39)	missense	probably benign	0.03
cumpleanos	UTSW	13	113,504,870 (GRCm39)	missense	possibly damaging	0.87
Sorpresa	UTSW	13	113,454,725 (GRCm39)	missense	probably damaging	1.00
P0018:Cspg4b	UTSW	13	113,504,040 (GRCm39)	missense	possibly damaging	0.60
R0003:Cspg4b	UTSW	13	113,505,310 (GRCm39)	missense	probably benign	0.00
R0016:Cspg4b	UTSW	13	113,502,639 (GRCm39)	missense	probably damaging	1.00
R0016:Cspg4b	UTSW	13	113,502,639 (GRCm39)	missense	probably damaging	1.00
R0053:Cspg4b	UTSW	13	113,505,023 (GRCm39)	missense	probably benign	0.00
R0053:Cspg4b	UTSW	13	113,505,023 (GRCm39)	missense	probably benign	0.00
R0158:Cspg4b	UTSW	13	113,505,687 (GRCm39)	nonsense	probably null
R0281:Cspg4b	UTSW	13	113,505,677 (GRCm39)	missense	probably damaging	1.00
R1212:Cspg4b	UTSW	13	113,505,951 (GRCm39)	intron	probably benign
R1300:Cspg4b	UTSW	13	113,502,694 (GRCm39)	missense	probably damaging	1.00
R1434:Cspg4b	UTSW	13	113,505,026 (GRCm39)	missense	possibly damaging	0.46
R1509:Cspg4b	UTSW	13	113,504,790 (GRCm39)	missense	probably damaging	0.99
R1738:Cspg4b	UTSW	13	113,504,034 (GRCm39)	missense	possibly damaging	0.69
R1758:Cspg4b	UTSW	13	113,505,266 (GRCm39)	missense	possibly damaging	0.78
R1828:Cspg4b	UTSW	13	113,505,342 (GRCm39)	missense	probably damaging	1.00
R2061:Cspg4b	UTSW	13	113,454,628 (GRCm39)	missense	probably damaging	0.99
R2570:Cspg4b	UTSW	13	113,455,121 (GRCm39)	missense	probably benign	0.34
R2884:Cspg4b	UTSW	13	113,457,216 (GRCm39)	missense	probably damaging	1.00
R2884:Cspg4b	UTSW	13	113,505,725 (GRCm39)	missense	probably benign	0.00
R3004:Cspg4b	UTSW	13	113,502,688 (GRCm39)	missense	probably damaging	1.00
R3150:Cspg4b	UTSW	13	113,488,294 (GRCm39)	missense	probably damaging	1.00
R3773:Cspg4b	UTSW	13	113,454,743 (GRCm39)	missense	probably benign	0.12
R3864:Cspg4b	UTSW	13	113,459,485 (GRCm39)	missense	possibly damaging	0.64
R3971:Cspg4b	UTSW	13	113,453,660 (GRCm39)	missense	probably damaging	1.00
R4004:Cspg4b	UTSW	13	113,454,914 (GRCm39)	missense	probably benign	0.00
R4271:Cspg4b	UTSW	13	113,478,904 (GRCm39)	missense	possibly damaging	0.76
R4382:Cspg4b	UTSW	13	113,459,288 (GRCm39)	missense	probably benign	0.10
R4484:Cspg4b	UTSW	13	113,455,733 (GRCm39)	missense	probably damaging	0.98
R4570:Cspg4b	UTSW	13	113,454,725 (GRCm39)	missense	probably damaging	1.00
R4600:Cspg4b	UTSW	13	113,455,783 (GRCm39)	missense	possibly damaging	0.95
R4622:Cspg4b	UTSW	13	113,456,615 (GRCm39)	missense	probably benign	0.00
R4676:Cspg4b	UTSW	13	113,505,342 (GRCm39)	missense	probably damaging	1.00
R4676:Cspg4b	UTSW	13	113,505,341 (GRCm39)	missense	probably damaging	0.98
R4677:Cspg4b	UTSW	13	113,516,020 (GRCm39)	missense	unknown
R4775:Cspg4b	UTSW	13	113,454,229 (GRCm39)	missense	possibly damaging	0.91
R4779:Cspg4b	UTSW	13	113,504,870 (GRCm39)	missense	possibly damaging	0.87
R4780:Cspg4b	UTSW	13	113,454,392 (GRCm39)	missense	probably damaging	1.00
R4829:Cspg4b	UTSW	13	113,504,696 (GRCm39)	missense	probably benign	0.05
R4841:Cspg4b	UTSW	13	113,502,724 (GRCm39)	missense	probably benign	0.00
R4879:Cspg4b	UTSW	13	113,456,321 (GRCm39)	missense	probably benign	0.03
R4930:Cspg4b	UTSW	13	113,464,196 (GRCm39)	missense	probably damaging	1.00
R4934:Cspg4b	UTSW	13	113,504,882 (GRCm39)	missense	probably damaging	1.00
R4987:Cspg4b	UTSW	13	113,454,635 (GRCm39)	missense	probably benign	0.07
R5065:Cspg4b	UTSW	13	113,457,453 (GRCm39)	missense	probably benign	0.01
R5216:Cspg4b	UTSW	13	113,478,947 (GRCm39)	missense	probably benign	0.20
R5236:Cspg4b	UTSW	13	113,502,754 (GRCm39)	missense	probably benign	0.14
R5247:Cspg4b	UTSW	13	113,455,993 (GRCm39)	missense	probably damaging	1.00
R5250:Cspg4b	UTSW	13	113,456,305 (GRCm39)	missense	possibly damaging	0.95
R5337:Cspg4b	UTSW	13	113,455,299 (GRCm39)	missense	probably damaging	1.00
R5342:Cspg4b	UTSW	13	113,502,803 (GRCm39)	critical splice donor site	probably null
R5426:Cspg4b	UTSW	13	113,505,587 (GRCm39)	missense	probably benign	0.01
R5472:Cspg4b	UTSW	13	113,455,703 (GRCm39)	missense	probably benign	0.12
R5526:Cspg4b	UTSW	13	113,504,427 (GRCm39)	missense	probably benign	0.22
R5543:Cspg4b	UTSW	13	113,457,407 (GRCm39)	missense	probably damaging	0.96
R5589:Cspg4b	UTSW	13	113,454,484 (GRCm39)	missense	possibly damaging	0.95
R5623:Cspg4b	UTSW	13	113,483,168 (GRCm39)	missense	possibly damaging	0.95
R5668:Cspg4b	UTSW	13	113,453,701 (GRCm39)	missense	possibly damaging	0.55
R5793:Cspg4b	UTSW	13	113,457,556 (GRCm39)	missense	possibly damaging	0.75
R5824:Cspg4b	UTSW	13	113,505,154 (GRCm39)	missense	probably damaging	1.00
R6038:Cspg4b	UTSW	13	113,455,153 (GRCm39)	missense	possibly damaging	0.49
R6038:Cspg4b	UTSW	13	113,455,153 (GRCm39)	missense	possibly damaging	0.49
R6053:Cspg4b	UTSW	13	113,457,260 (GRCm39)	missense	possibly damaging	0.51
R6129:Cspg4b	UTSW	13	113,505,340 (GRCm39)	nonsense	probably null
R6290:Cspg4b	UTSW	13	113,456,492 (GRCm39)	missense	probably damaging	0.97
R6291:Cspg4b	UTSW	13	113,456,981 (GRCm39)	missense	possibly damaging	0.85
R6302:Cspg4b	UTSW	13	113,504,646 (GRCm39)	missense	probably damaging	1.00
R6317:Cspg4b	UTSW	13	113,504,802 (GRCm39)	missense	probably benign	0.09
R6395:Cspg4b	UTSW	13	113,506,003 (GRCm39)	missense	probably damaging	1.00
R6673:Cspg4b	UTSW	13	113,504,366 (GRCm39)	nonsense	probably null
R6783:Cspg4b	UTSW	13	113,456,743 (GRCm39)	nonsense	probably null
R6800:Cspg4b	UTSW	13	113,504,686 (GRCm39)	missense	probably benign	0.02
R6857:Cspg4b	UTSW	13	113,456,492 (GRCm39)	missense	probably damaging	0.97
R6889:Cspg4b	UTSW	13	113,454,912 (GRCm39)	missense	probably damaging	0.99
R6934:Cspg4b	UTSW	13	113,505,800 (GRCm39)	missense	probably benign
R7019:Cspg4b	UTSW	13	113,488,284 (GRCm39)	missense	probably benign	0.01
R7100:Cspg4b	UTSW	13	113,455,501 (GRCm39)	missense
R7115:Cspg4b	UTSW	13	113,457,310 (GRCm39)	missense
R7152:Cspg4b	UTSW	13	113,455,384 (GRCm39)	missense
R7195:Cspg4b	UTSW	13	113,504,463 (GRCm39)	missense
R7213:Cspg4b	UTSW	13	113,454,475 (GRCm39)	missense
R7250:Cspg4b	UTSW	13	113,455,349 (GRCm39)	missense
R7341:Cspg4b	UTSW	13	113,454,706 (GRCm39)	missense
R7358:Cspg4b	UTSW	13	113,456,501 (GRCm39)	missense
R7359:Cspg4b	UTSW	13	113,478,964 (GRCm39)	missense
R7396:Cspg4b	UTSW	13	113,455,524 (GRCm39)	missense
R7632:Cspg4b	UTSW	13	113,457,420 (GRCm39)	missense
R7689:Cspg4b	UTSW	13	113,515,948 (GRCm39)	missense
R7713:Cspg4b	UTSW	13	113,483,075 (GRCm39)	missense
R7892:Cspg4b	UTSW	13	113,456,140 (GRCm39)	missense
R7975:Cspg4b	UTSW	13	113,455,841 (GRCm39)	missense
R8017:Cspg4b	UTSW	13	113,456,157 (GRCm39)	missense
R8019:Cspg4b	UTSW	13	113,456,157 (GRCm39)	missense
R8034:Cspg4b	UTSW	13	113,479,045 (GRCm39)	missense
R8101:Cspg4b	UTSW	13	113,457,425 (GRCm39)	missense
R8104:Cspg4b	UTSW	13	113,456,263 (GRCm39)	missense
R8122:Cspg4b	UTSW	13	113,455,442 (GRCm39)	missense
R8126:Cspg4b	UTSW	13	113,504,697 (GRCm39)	missense
R8272:Cspg4b	UTSW	13	113,504,889 (GRCm39)	missense
R8679:Cspg4b	UTSW	13	113,488,163 (GRCm39)	missense
R8973:Cspg4b	UTSW	13	113,456,293 (GRCm39)	missense
R9123:Cspg4b	UTSW	13	113,505,374 (GRCm39)	missense
R9125:Cspg4b	UTSW	13	113,505,374 (GRCm39)	missense
R9182:Cspg4b	UTSW	13	113,457,358 (GRCm39)	missense
R9233:Cspg4b	UTSW	13	113,502,754 (GRCm39)	missense
R9264:Cspg4b	UTSW	13	113,456,014 (GRCm39)	missense
R9306:Cspg4b	UTSW	13	113,506,010 (GRCm39)	missense	unknown
R9327:Cspg4b	UTSW	13	113,453,710 (GRCm39)	missense
R9411:Cspg4b	UTSW	13	113,504,767 (GRCm39)	missense
R9516:Cspg4b	UTSW	13	113,455,649 (GRCm39)	missense
R9562:Cspg4b	UTSW	13	113,504,574 (GRCm39)	missense
R9605:Cspg4b	UTSW	13	113,456,503 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- AACCTAATGGCTTCTTTGGGGC -3'
(R):5'- TCCAGGTAAGGGACACTGAG -3'

Sequencing Primer
(F):5'- TCTTTGGGGCCTCAGCAC -3'
(R):5'- GGCCTCCTATATAGATTCCATGGTG -3'

Posted On

2017-10-10