Mutagenetix > Incidental Mutation

Incidental Mutation 'R7359:Cspg4b'

571223

Institutional Source

Beutler Lab

Gene Symbol

Cspg4b

Ensembl Gene

ENSMUSG00000021763

Gene Name

chondroitin sulfate proteoglycan 4B

Synonyms

BC067074

MMRRC Submission

045445-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.201) question?

Stock #

R7359 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

113429570-113507049 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 113478964 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1503 (S1503P)

Ref Sequence

ENSEMBL: ENSMUSP00000119993 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078163] [ENSMUST00000136755]

AlphaFold

F6RXI4

Predicted Effect

probably benign
Transcript: ENSMUST00000078163

SMART Domains

Protein: ENSMUSP00000077297
Gene: ENSMUSG00000021763

Domain	Start	End	E-Value	Type
Pfam:Cadherin_3	29	136	4.6e-12	PFAM
low complexity region	190	198	N/A	INTRINSIC
Pfam:Cadherin_3	231	384	4.9e-38	PFAM
transmembrane domain	725	747	N/A	INTRINSIC

Predicted Effect

SMART Domains

Protein: ENSMUSP00000119993
Gene: ENSMUSG00000021763
AA Change: S1503P

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: 98.8%

Validation Efficiency

99% (87/88)

Allele List at MGI

All alleles(2) : Targeted(2)

Other mutations in this stock

Total: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,236,348 (GRCm39)	V1233A	possibly damaging	Het
Abcc9	G	A	6: 142,617,408 (GRCm39)	T552I	probably damaging	Het
Adgrf4	T	C	17: 42,978,003 (GRCm39)	I447V	possibly damaging	Het
Akirin2	T	A	4: 34,565,944 (GRCm39)	D178E	probably damaging	Het
Arhgap12	T	C	18: 6,065,709 (GRCm39)	E359G	possibly damaging	Het
Arhgef5	A	C	6: 43,257,216 (GRCm39)	T1256P	probably damaging	Het
Avpr1a	A	C	10: 122,285,283 (GRCm39)	I192L	possibly damaging	Het
B4galnt4	A	G	7: 140,651,197 (GRCm39)	H926R	probably damaging	Het
Bean1	CT	C	8: 104,908,664 (GRCm39)		probably null	Het
Ccdc68	C	T	18: 70,089,123 (GRCm39)	A222V	probably benign	Het
Cdc23	T	C	18: 34,774,394 (GRCm39)	Y295C	probably benign	Het
Ceacam10	T	C	7: 24,480,432 (GRCm39)	Y188H	unknown	Het
Cfap57	T	A	4: 118,456,162 (GRCm39)	T511S	probably benign	Het
Cftr	T	C	6: 18,221,623 (GRCm39)	V245A	probably benign	Het
Cit	A	G	5: 116,064,633 (GRCm39)	D505G	probably damaging	Het
Cmah	T	G	13: 24,652,539 (GRCm39)	N556K	probably benign	Het
D430041D05Rik	C	A	2: 104,044,482 (GRCm39)	D839Y	probably damaging	Het
Dek	T	C	13: 47,259,065 (GRCm39)	D47G	unknown	Het
Des	C	T	1: 75,337,596 (GRCm39)	R179C	probably damaging	Het
Desi2	A	G	1: 178,015,509 (GRCm39)	N10D	probably benign	Het
Dlg5	T	C	14: 24,214,615 (GRCm39)	N679S	probably damaging	Het
Dnajc24	T	C	2: 105,832,293 (GRCm39)	Y30C	probably damaging	Het
Dock10	T	A	1: 80,687,065 (GRCm39)	H34L	probably benign	Het
Dock5	A	G	14: 68,003,337 (GRCm39)	V1586A	probably benign	Het
Dpy19l4	A	G	4: 11,273,125 (GRCm39)	V576A	probably benign	Het
Dusp6	A	G	10: 99,099,927 (GRCm39)	E125G	probably benign	Het
Dync1h1	T	C	12: 110,591,036 (GRCm39)	Y1035H	probably benign	Het
Dysf	G	A	6: 84,172,306 (GRCm39)		probably null	Het
En1	A	G	1: 120,534,817 (GRCm39)	K369E	unknown	Het
F2r	A	G	13: 95,741,194 (GRCm39)	Y114H	probably damaging	Het
Fam184a	T	C	10: 53,575,318 (GRCm39)	Y97C	probably damaging	Het
Fggy	T	C	4: 95,657,717 (GRCm39)	V286A	probably benign	Het
Flot2	T	C	11: 77,949,383 (GRCm39)	I322T	probably benign	Het
Fndc1	A	T	17: 8,032,318 (GRCm39)		probably null	Het
Frs3	A	G	17: 48,010,450 (GRCm39)	D28G	probably damaging	Het
Gimap3	C	T	6: 48,742,280 (GRCm39)	D217N	probably benign	Het
Gm128	A	G	3: 95,147,934 (GRCm39)	V120A	probably benign	Het
Gm17190	T	C	13: 96,218,970 (GRCm39)	V102A	probably damaging	Het
Gm17268	A	G	11: 81,919,057 (GRCm39)	V20A	unknown	Het
Grsf1	A	T	5: 88,813,423 (GRCm39)		probably null	Het
Hmcn2	A	T	2: 31,278,395 (GRCm39)	Y1699F	probably benign	Het
Hnmt	T	A	2: 23,938,731 (GRCm39)	M36L	probably benign	Het
Hoxd1	C	A	2: 74,594,447 (GRCm39)	T234K	probably damaging	Het
Hydin	C	G	8: 111,232,733 (GRCm39)	S1679R	probably damaging	Het
Jag1	T	C	2: 136,926,226 (GRCm39)	R1059G	probably benign	Het
Kbtbd11	T	C	8: 15,078,858 (GRCm39)	W486R	probably damaging	Het
Kcnh6	A	G	11: 105,909,789 (GRCm39)	D438G	possibly damaging	Het
Lgals4	T	G	7: 28,540,724 (GRCm39)	F276V	probably benign	Het
Lrp6	G	T	6: 134,427,923 (GRCm39)	Y1556*	probably null	Het
Mpdz	G	A	4: 81,274,632 (GRCm39)	L855F	probably benign	Het
Muc16	A	T	9: 18,554,316 (GRCm39)	D3992E	unknown	Het
Npc1	T	C	18: 12,328,237 (GRCm39)	N1024S	probably benign	Het
Nsfl1c	A	G	2: 151,336,279 (GRCm39)	T18A	probably benign	Het
Or12e8	T	A	2: 87,188,555 (GRCm39)	L256I	possibly damaging	Het
Or12k5	A	T	2: 36,895,449 (GRCm39)	M59K	probably damaging	Het
Or2g7	G	A	17: 38,378,506 (GRCm39)	W148*	probably null	Het
Or8g31-ps1	T	C	9: 39,276,775 (GRCm39)	*307R	probably null	Het
Pcdh15	A	T	10: 74,420,048 (GRCm39)	K1235N	probably damaging	Het
Pcif1	A	G	2: 164,726,251 (GRCm39)	K51E	probably damaging	Het
Pde1b	G	A	15: 103,429,752 (GRCm39)	D82N	probably damaging	Het
Phf23	T	A	11: 69,889,467 (GRCm39)	V167E	possibly damaging	Het
Pik3c2g	T	C	6: 139,913,620 (GRCm39)	V1006A	unknown	Het
Pira12	T	A	7: 3,901,103 (GRCm39)		probably benign	Het
Pkhd1l1	G	T	15: 44,452,882 (GRCm39)	V3936F	probably damaging	Het
Pnpla1	T	C	17: 29,100,159 (GRCm39)	V342A	probably benign	Het
Ppip5k1	T	C	2: 121,171,329 (GRCm39)	D620G	possibly damaging	Het
Ppl	A	G	16: 4,907,205 (GRCm39)	L1030P	possibly damaging	Het
Prelid1	A	T	13: 55,469,088 (GRCm39)		probably benign	Het
Racgap1	C	T	15: 99,529,081 (GRCm39)	S264N	probably benign	Het
Rdh13	T	C	7: 4,430,696 (GRCm39)	D289G	probably benign	Het
Rtp3	T	C	9: 110,815,364 (GRCm39)	I334V	probably benign	Het
Setd2	A	T	9: 110,392,012 (GRCm39)	D200V		Het
Simc1	A	G	13: 54,651,731 (GRCm39)	S15G	unknown	Het
Sirpb1c	A	T	3: 15,887,389 (GRCm39)	M150K	probably benign	Het
Smoc1	T	A	12: 81,197,475 (GRCm39)	D202E	probably damaging	Het
Spata31d1b	A	G	13: 59,860,304 (GRCm39)	Y59C	probably damaging	Het
Stard9	A	G	2: 120,528,761 (GRCm39)	T1673A	probably damaging	Het
Tbc1d31	T	A	15: 57,779,504 (GRCm39)	H72Q	probably benign	Het
Tgfbrap1	C	A	1: 43,114,693 (GRCm39)	V136L	probably damaging	Het
Top2b	A	G	14: 16,407,376 (GRCm38)	N720S	probably null	Het
Vmn1r11	T	C	6: 57,115,184 (GRCm39)	S283P	probably damaging	Het
Vmn1r19	A	G	6: 57,382,080 (GRCm39)	H211R	probably damaging	Het
Vmn2r44	A	T	7: 8,370,538 (GRCm39)	M836K	probably benign	Het
Vmn2r61	A	C	7: 41,915,407 (GRCm39)	H118P	probably benign	Het
Vps33a	A	G	5: 123,696,696 (GRCm39)	I319T	probably benign	Het
Vwf	T	A	6: 125,543,220 (GRCm39)	S151T		Het
Zfp423	T	C	8: 88,508,871 (GRCm39)	N491S	possibly damaging	Het
Zfp626	T	C	7: 27,507,660 (GRCm39)	F23S	probably 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
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'- GGAGAAAGTAGCTGCTGCATTG -3'
(R):5'- GATCGACACCGCTTTGTTCTG -3'

Sequencing Primer
(F):5'- ACACTGGCATGTACATGGTGC -3'
(R):5'- GTGACTTACCAGTGTGCACGAAC -3'

Posted On

2019-09-13