Mutagenetix > Incidental Mutation

Incidental Mutation 'R7975:Cspg4b'

650864

Institutional Source

Beutler Lab

Gene Symbol

Cspg4b

Ensembl Gene

ENSMUSG00000021763

Gene Name

chondroitin sulfate proteoglycan 4B

Synonyms

BC067074

MMRRC Submission

046018-MU

Accession Numbers

Essential gene?

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

Stock #

R7975 (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 113455841 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 629 (H629R)

Ref Sequence

ENSEMBL: ENSMUSP00000119993 (fasta)

Gene Model

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

AlphaFold

F6RXI4

Predicted Effect

SMART Domains

Protein: ENSMUSP00000119993
Gene: ENSMUSG00000021763
AA Change: H629R

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.3%

Validation Efficiency

100% (53/53)

Allele List at MGI

All alleles(2) : Targeted(2)

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano4	T	C	10: 88,952,847 (GRCm39)	I60V	possibly damaging	Het
Ano5	T	A	7: 51,216,286 (GRCm39)	M381K	probably null	Het
Aox1	T	A	1: 58,348,187 (GRCm39)	I635K	probably benign	Het
Bdp1	C	T	13: 100,156,884 (GRCm39)	C2436Y	probably benign	Het
Bod1l	T	C	5: 41,973,620 (GRCm39)	R2565G	possibly damaging	Het
Brd2	A	T	17: 34,334,424 (GRCm39)	I245N	probably damaging	Het
Capn9	G	A	8: 125,325,515 (GRCm39)	V258M	probably damaging	Het
Ccar2	C	G	14: 70,380,918 (GRCm39)	C324S	possibly damaging	Het
Cd209b	A	T	8: 3,975,948 (GRCm39)	I71N	probably benign	Het
Cdk12	A	T	11: 98,111,928 (GRCm39)	I729F	unknown	Het
Celf1	T	G	2: 90,831,423 (GRCm39)	V84G	probably damaging	Het
Cgn	G	T	3: 94,671,836 (GRCm39)	A965E	probably benign	Het
Cgnl1	T	C	9: 71,632,604 (GRCm39)	E249G	probably benign	Het
Cyp2j8	T	C	4: 96,358,776 (GRCm39)	N381S	possibly damaging	Het
Dmtf1	T	C	5: 9,179,169 (GRCm39)	D343G	probably damaging	Het
Fhl5	T	A	4: 25,214,730 (GRCm39)	I16F	probably benign	Het
Gatd1	A	G	7: 140,989,781 (GRCm39)	F143S	probably damaging	Het
Gbp10	C	T	5: 105,368,967 (GRCm39)	G291R	probably benign	Het
Gm28168	T	C	1: 117,875,820 (GRCm39)	Y150H	probably benign	Het
Gm3543	T	C	14: 41,802,122 (GRCm39)	M121V	probably benign	Het
Gramd2b	A	G	18: 56,618,451 (GRCm39)	T220A	probably benign	Het
Gstcd	A	G	3: 132,777,863 (GRCm39)	L316P	probably damaging	Het
Hspg2	G	A	4: 137,282,532 (GRCm39)	G3424D	probably benign	Het
Ifi209	C	T	1: 173,468,722 (GRCm39)	S184F	probably benign	Het
Ino80	A	T	2: 119,286,948 (GRCm39)		probably null	Het
Kcnd3	G	A	3: 105,366,310 (GRCm39)	R60H	probably damaging	Het
Kif21b	T	C	1: 136,098,911 (GRCm39)	C1400R	probably damaging	Het
Lama3	C	T	18: 12,670,796 (GRCm39)	P794L	probably damaging	Het
Lgals4	A	G	7: 28,540,346 (GRCm39)	I214V	probably benign	Het
Lipo4	A	T	19: 33,490,028 (GRCm39)	L158Q	probably damaging	Het
Ltv1	A	G	10: 13,066,453 (GRCm39)	Y58H	probably damaging	Het
Mitf	T	C	6: 97,994,990 (GRCm39)	S479P	probably benign	Het
Mthfr	A	T	4: 148,127,920 (GRCm39)	D132V	probably damaging	Het
Mtrr	T	C	13: 68,727,666 (GRCm39)		probably null	Het
Neb	T	A	2: 52,050,678 (GRCm39)	H6660L	probably benign	Het
Nhlrc3	A	T	3: 53,360,966 (GRCm39)	V263E	probably damaging	Het
Oas1h	G	A	5: 121,009,890 (GRCm39)	V322M	probably damaging	Het
Or10a3n	A	T	7: 108,493,019 (GRCm39)	Y203*	probably null	Het
Or2m13	T	A	16: 19,226,301 (GRCm39)	D155V	probably damaging	Het
Or4a15	C	T	2: 89,193,413 (GRCm39)	R120H	probably benign	Het
Pappa	A	T	4: 65,212,705 (GRCm39)	D1121V	probably damaging	Het
Pax5	A	G	4: 44,537,465 (GRCm39)	S352P	probably damaging	Het
Piezo1	C	A	8: 123,222,504 (GRCm39)	R915L		Het
R3hcc1	T	C	14: 69,944,593 (GRCm39)	D7G	probably damaging	Het
Rasgrp2	A	G	19: 6,458,589 (GRCm39)	K429E	probably damaging	Het
Scn10a	A	G	9: 119,501,286 (GRCm39)	F166S	probably benign	Het
Scn9a	T	G	2: 66,314,597 (GRCm39)	N1707T	probably damaging	Het
Sec23ip	T	C	7: 128,364,201 (GRCm39)	F493S	probably damaging	Het
Slc1a7	G	A	4: 107,869,473 (GRCm39)	V513M	probably benign	Het
Slfn4	A	T	11: 83,077,982 (GRCm39)	I257F	possibly damaging	Het
Smarcal1	T	A	1: 72,652,150 (GRCm39)	D637E	probably benign	Het
Smpd3	A	C	8: 106,982,254 (GRCm39)	C617G	probably benign	Het
Sos2	A	T	12: 69,639,814 (GRCm39)	F990L	probably benign	Het
Spata31h1	C	T	10: 82,119,823 (GRCm39)	A4396T	possibly damaging	Het
Syne1	T	C	10: 4,981,786 (GRCm39)	T844A	probably benign	Het
Tph1	G	A	7: 46,306,678 (GRCm39)	R145C	probably damaging	Het
Ubap2l	G	A	3: 89,946,076 (GRCm39)		probably null	Het
Vmn2r50	T	C	7: 9,771,272 (GRCm39)	I810V	probably benign	Het
Vmn2r59	T	C	7: 41,693,199 (GRCm39)	D467G	probably damaging	Het
Zfp618	T	A	4: 63,049,352 (GRCm39)	N417K	possibly damaging	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
R6125:Cspg4b	UTSW	13	113,454,217 (GRCm39)	missense	probably benign	0.00
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
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'- TAAGCTTCCAGAAGGACACCTG -3'
(R):5'- AGACAAGTTGTTCCGAGTGATG -3'

Sequencing Primer
(F):5'- GAAGGACACCTGCTTCTCTTTGAG -3'
(R):5'- ATGAGAATGGTACCACCTTGTG -3'

Posted On

2020-09-15