Mutagenetix > Incidental Mutation

Incidental Mutation 'R7213:Cspg4b'

561243

Institutional Source

Beutler Lab

Gene Symbol

Cspg4b

Ensembl Gene

ENSMUSG00000021763

Gene Name

chondroitin sulfate proteoglycan 4B

Synonyms

BC067074

MMRRC Submission

045341-MU

Accession Numbers

Essential gene?

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

Stock #

R7213 (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 113454475 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 174 (F174I)

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: F174I

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

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (80/81)

Allele List at MGI

All alleles(2) : Targeted(2)

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	G	T	9: 124,056,530 (GRCm39)	Y131*	probably null	Het
2310009B15Rik	A	T	1: 138,781,367 (GRCm39)	V94D	probably damaging	Het
Actr1b	T	A	1: 36,741,221 (GRCm39)	N120I	probably damaging	Het
Adam17	A	T	12: 21,386,679 (GRCm39)	Y452*	probably null	Het
Adam19	A	T	11: 46,012,298 (GRCm39)	T265S	probably benign	Het
Adgrb1	A	G	15: 74,441,733 (GRCm39)	T945A	probably benign	Het
Bpifa5	G	A	2: 154,007,903 (GRCm39)	V182M	possibly damaging	Het
Celsr3	C	T	9: 108,726,239 (GRCm39)	T3156I	probably damaging	Het
Cntrl	A	G	2: 35,025,692 (GRCm39)	M674V	possibly damaging	Het
Cry2	C	T	2: 92,244,004 (GRCm39)	V390I	probably benign	Het
Cwc25	G	T	11: 97,644,855 (GRCm39)	Q168K	probably benign	Het
Dcbld2	C	T	16: 58,271,126 (GRCm39)	A301V	probably benign	Het
Dclre1a	T	C	19: 56,518,067 (GRCm39)	Y1004C	probably damaging	Het
Ddhd1	A	C	14: 45,895,210 (GRCm39)	S87A	probably benign	Het
Ear1	A	G	14: 44,056,611 (GRCm39)	C86R	probably damaging	Het
Epha5	T	C	5: 84,381,782 (GRCm39)		probably null	Het
Fat2	A	T	11: 55,171,871 (GRCm39)	Y2947*	probably null	Het
Fat4	G	A	3: 39,053,236 (GRCm39)	V4077M	possibly damaging	Het
Fbxl12	A	T	9: 20,550,304 (GRCm39)	V140E	probably damaging	Het
Fbxo16	A	G	14: 65,536,868 (GRCm39)		probably null	Het
Fto	A	T	8: 92,118,135 (GRCm39)	Q29L	probably benign	Het
Gk5	C	T	9: 96,027,765 (GRCm39)	T200M	probably damaging	Het
Gm5916	C	T	9: 36,039,946 (GRCm39)	G14E	possibly damaging	Het
Gm9972	A	T	11: 42,927,235 (GRCm39)		probably benign	Het
Gpr139	T	A	7: 118,744,322 (GRCm39)	M88L	probably benign	Het
Gpr26	T	C	7: 131,569,219 (GRCm39)	L188P	probably damaging	Het
H2ac4	G	T	13: 23,935,146 (GRCm39)	A11S	unknown	Het
Hbp1	A	T	12: 31,987,196 (GRCm39)	S219T	probably benign	Het
Hr	A	T	14: 70,795,790 (GRCm39)	E445V	probably damaging	Het
Il12rb1	A	G	8: 71,269,097 (GRCm39)	K426E	probably benign	Het
Itgbl1	G	A	14: 124,210,709 (GRCm39)	C469Y	probably damaging	Het
Kdm2b	A	T	5: 123,059,532 (GRCm39)	N523K	probably damaging	Het
Kptn	A	G	7: 15,854,704 (GRCm39)	N125S	possibly damaging	Het
Krt17	T	C	11: 100,149,356 (GRCm39)	N238S	probably benign	Het
Lemd3	G	A	10: 120,814,145 (GRCm39)	R363*	probably null	Het
Mmrn1	G	A	6: 60,921,527 (GRCm39)		probably benign	Het
Mtus1	T	C	8: 41,537,524 (GRCm39)	D64G	probably damaging	Het
Muc16	A	G	9: 18,552,712 (GRCm39)	V4527A	probably benign	Het
Naip2	T	A	13: 100,323,991 (GRCm39)	D193V	probably damaging	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Nf1	A	G	11: 79,360,645 (GRCm39)	H1462R	probably benign	Het
Or2n1b	T	C	17: 38,459,965 (GRCm39)	V162A	probably benign	Het
Or5ak20	A	T	2: 85,183,900 (GRCm39)	Y123*	probably null	Het
Pappa2	T	A	1: 158,764,456 (GRCm39)	T352S	possibly damaging	Het
Pcnt	A	G	10: 76,244,738 (GRCm39)	L1114P	probably damaging	Het
Pde6b	T	C	5: 108,551,956 (GRCm39)	Y212H	probably damaging	Het
Pik3c2g	A	T	6: 139,805,990 (GRCm39)	I604F		Het
Pld2	A	G	11: 70,444,198 (GRCm39)	D498G	probably benign	Het
Prag1	A	T	8: 36,613,769 (GRCm39)	Q1107L	probably damaging	Het
Pwp1	A	T	10: 85,712,173 (GRCm39)	I110F	probably benign	Het
Rims4	C	T	2: 163,705,981 (GRCm39)	V218I	probably benign	Het
Rnf10	C	T	5: 115,380,532 (GRCm39)	S754N	probably damaging	Het
Rnf10	T	C	5: 115,380,533 (GRCm39)	S754G	probably damaging	Het
Sel1l2	A	T	2: 140,086,055 (GRCm39)	V512E	probably damaging	Het
Shank2	T	A	7: 143,585,146 (GRCm39)	M49K	probably benign	Het
Sipa1	T	C	19: 5,710,551 (GRCm39)	D153G	probably damaging	Het
Slc46a2	C	T	4: 59,914,279 (GRCm39)	V215I	possibly damaging	Het
Slco6c1	G	A	1: 97,055,671 (GRCm39)	L77F	probably benign	Het
Smarca2	T	C	19: 26,624,531 (GRCm39)	L397P	possibly damaging	Het
Spg7	C	T	8: 123,816,971 (GRCm39)	A554V	probably damaging	Het
Stab1	T	A	14: 30,865,630 (GRCm39)	M1753L	probably benign	Het
Stk11	A	G	10: 79,952,452 (GRCm39)	M1V	probably null	Het
Supt6	C	A	11: 78,122,976 (GRCm39)	G136C	probably damaging	Het
Svil	G	T	18: 5,094,574 (GRCm39)	R1418L	probably damaging	Het
Tfg	A	G	16: 56,521,516 (GRCm39)	S167P	probably benign	Het
Timeless	T	C	10: 128,079,158 (GRCm39)	V335A	probably benign	Het
Tll2	C	A	19: 41,108,666 (GRCm39)	R328L	probably damaging	Het
Tomm7	T	C	5: 24,049,059 (GRCm39)	S5G	possibly damaging	Het
Ttc39c	G	A	18: 12,820,138 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,556,105 (GRCm39)	E30300G	probably benign	Het
Tuba4a	A	T	1: 75,192,341 (GRCm39)	D452E	possibly damaging	Het
Tubgcp2	T	C	7: 139,587,927 (GRCm39)	I233V	probably benign	Het
Tubgcp5	T	A	7: 55,455,860 (GRCm39)	V296E	probably damaging	Het
Vmn2r53	T	C	7: 12,334,983 (GRCm39)	S226G	probably benign	Het
Xrcc6	T	C	15: 81,901,027 (GRCm39)		probably benign	Het
Zfhx4	C	A	3: 5,461,704 (GRCm39)	D1192E	probably benign	Het
Zfp180	G	T	7: 23,803,938 (GRCm39)	W119L	possibly damaging	Het
Zfp3	A	G	11: 70,663,351 (GRCm39)	I437V	probably benign	Het
Zfp616	A	T	11: 73,976,689 (GRCm39)	Q986L	probably benign	Het
Zfp937	T	A	2: 150,081,385 (GRCm39)	C472S	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
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'- GACGATTTGGCTTGGCATTC -3'
(R):5'- TTGCACAGCAAATCTCAGGAAC -3'

Sequencing Primer
(F):5'- CTGCGCTATGGCAAGGATG -3'
(R):5'- GGAACCCTTCCCCGTGTAC -3'

Posted On

2019-06-26