Mutagenetix > Incidental Mutation

Incidental Mutation 'R7100:Cspg4b'

550784

Institutional Source

Beutler Lab

Gene Symbol

Cspg4b

Ensembl Gene

ENSMUSG00000021763

Gene Name

chondroitin sulfate proteoglycan 4B

Synonyms

BC067074

MMRRC Submission

045192-MU

Accession Numbers

Essential gene?

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

Stock #

R7100 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

113429570-113507049 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 113455501 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 516 (F516I)

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: F516I

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: 99.1%

Validation Efficiency

98% (54/55)

Allele List at MGI

All alleles(2) : Targeted(2)

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl10	A	G	2: 154,394,315 (GRCm39)	E89G	probably damaging	Het
Adgrv1	A	T	13: 81,419,016 (GRCm39)	V5993E	probably damaging	Het
Amdhd1	T	C	10: 93,372,936 (GRCm39)		probably null	Het
Amph	T	C	13: 19,334,011 (GRCm39)	*691Q	probably null	Het
Ankrd55	A	G	13: 112,492,644 (GRCm39)	K272E	probably benign	Het
Arhgef10l	C	T	4: 140,244,126 (GRCm39)	V838I	possibly damaging	Het
Arl2	C	A	19: 6,184,774 (GRCm39)	V160F	probably benign	Het
Catsperb	T	C	12: 101,412,297 (GRCm39)	V128A	possibly damaging	Het
Cdk11b	T	A	4: 155,710,050 (GRCm39)	L17H	probably damaging	Het
Cpsf1	A	T	15: 76,480,314 (GRCm39)	N1391K	possibly damaging	Het
Cpxm2	C	T	7: 131,656,544 (GRCm39)	A573T	probably benign	Het
Daxx	T	C	17: 34,130,416 (GRCm39)	S144P	probably damaging	Het
Dpp3	T	C	19: 4,968,069 (GRCm39)	D303G	probably damaging	Het
Fam181a	T	A	12: 103,282,132 (GRCm39)	N12K	probably damaging	Het
Flg2	A	T	3: 93,111,018 (GRCm39)	R1015S	unknown	Het
Fstl5	A	G	3: 76,443,600 (GRCm39)	H315R	probably benign	Het
Fut4	A	G	9: 14,662,689 (GRCm39)	S202P	probably damaging	Het
Gm5114	T	C	7: 39,057,708 (GRCm39)	D637G	possibly damaging	Het
Gstcd	G	T	3: 132,790,704 (GRCm39)	T21K	probably benign	Het
Heca	C	T	10: 17,791,121 (GRCm39)	V312M	probably benign	Het
Herpud1	A	G	8: 95,117,475 (GRCm39)	R144G	probably damaging	Het
Hycc2	T	A	1: 58,573,653 (GRCm39)	T384S	possibly damaging	Het
Ino80	A	G	2: 119,204,994 (GRCm39)	S1511P	possibly damaging	Het
Irf2bp2	T	C	8: 127,318,472 (GRCm39)	T365A	probably benign	Het
Klk1	G	A	7: 43,878,848 (GRCm39)	G214E	probably damaging	Het
Lama3	A	T	18: 12,715,701 (GRCm39)	N1719I	possibly damaging	Het
Lmna	A	G	3: 88,392,297 (GRCm39)	I365T	probably damaging	Het
Lrp8	C	A	4: 107,659,647 (GRCm39)	A13E	possibly damaging	Het
Ly75	A	G	2: 60,136,778 (GRCm39)	L1483P	probably benign	Het
Maco1	T	C	4: 134,533,971 (GRCm39)	D550G	probably damaging	Het
Mid1	A	G	X: 168,768,073 (GRCm39)	D407G	probably benign	Het
Mpl	G	T	4: 118,314,607 (GRCm39)	A21E		Het
Mus81	C	T	19: 5,534,239 (GRCm39)	G360S	probably damaging	Het
Nmt2	T	A	2: 3,313,950 (GRCm39)	S250T	probably benign	Het
Nr1d1	C	A	11: 98,662,160 (GRCm39)	R158L	probably damaging	Het
Pcgf6	G	A	19: 47,039,153 (GRCm39)	P36S	unknown	Het
Pcnx2	G	A	8: 126,485,853 (GRCm39)	A1915V	probably benign	Het
Peak1	A	G	9: 56,166,677 (GRCm39)	V417A	probably damaging	Het
Phf20l1	A	G	15: 66,476,689 (GRCm39)	N262S	probably benign	Het
Plaat5	T	A	19: 7,616,923 (GRCm39)	F313I	unknown	Het
Ppp2r5d	A	G	17: 46,996,608 (GRCm39)	V355A	probably benign	Het
Rasa3	T	C	8: 13,636,897 (GRCm39)	T395A	probably benign	Het
Rims1	T	A	1: 22,416,697 (GRCm39)	I432F	probably benign	Het
Rnf123	C	T	9: 107,933,838 (GRCm39)	C1080Y	probably damaging	Het
Serpina3g	T	C	12: 104,204,570 (GRCm39)		probably benign	Het
Shank2	T	A	7: 143,964,901 (GRCm39)	D836E	possibly damaging	Het
Slc24a5	A	C	2: 124,922,591 (GRCm39)	S118R	probably damaging	Het
Smg1	G	T	7: 117,783,743 (GRCm39)	H1048N	unknown	Het
Specc1l	T	G	10: 75,081,329 (GRCm39)	S242A	probably benign	Het
Tagap1	A	T	17: 7,224,111 (GRCm39)	L195Q	possibly damaging	Het
Trpc3	C	A	3: 36,704,216 (GRCm39)	E580D	probably benign	Het
Ttn	A	T	2: 76,541,166 (GRCm39)	V33940E	probably benign	Het
Upp2	G	T	2: 58,681,817 (GRCm39)	R318L	probably benign	Het
Vezt	T	A	10: 93,832,795 (GRCm39)	E205D	probably benign	Het
Vmn1r177	A	G	7: 23,565,535 (GRCm39)	F114L	probably benign	Het
Vmn2r53	C	A	7: 12,315,513 (GRCm39)	E769*	probably null	Het
Vnn3	T	C	10: 23,741,840 (GRCm39)	Y382H	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
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'- GAAGTAGATGTGGACTTTATGGATC -3'
(R):5'- TCGGTGTCGGGATCTAACAC -3'

Sequencing Primer
(F):5'- GGATCTGGGTATCAATTCTTCTCAG -3'
(R):5'- GTGTCGGGATCTAACACCTGTATCAC -3'

Posted On

2019-05-15