Incidental Mutation 'R7250:Cspg4b'
ID 563869
Institutional Source Beutler Lab
Gene Symbol Cspg4b
Ensembl Gene ENSMUSG00000021763
Gene Name chondroitin sulfate proteoglycan 4B
Synonyms BC067074
MMRRC Submission 045350-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.201) question?
Stock # R7250 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 113429570-113507049 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 113455349 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Arginine at position 465 (I465R)
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: I465R

DomainStartEndE-ValueType
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: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI

All alleles(2) : Targeted(2)

Other mutations in this stock
Total: 102 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930480E11Rik G T X: 77,414,311 (GRCm39) M345I probably benign Het
Actl7b T A 4: 56,741,035 (GRCm39) M108L probably benign Het
Adgrf3 T A 5: 30,400,680 (GRCm39) I934L probably damaging Het
Adprm A G 11: 66,932,450 (GRCm39) V153A probably benign Het
Aif1l G A 2: 31,859,764 (GRCm39) V109M probably damaging Het
Asphd1 T A 7: 126,545,942 (GRCm39) E307V probably damaging Het
Ate1 T A 7: 130,121,701 (GRCm39) probably benign Het
Borcs7 A G 19: 46,688,047 (GRCm39) H64R probably damaging Het
C1qtnf1 A G 11: 118,339,176 (GRCm39) *282W probably null Het
Cacna1c A G 6: 118,574,966 (GRCm39) C1985R Het
Cacna1c A T 6: 118,673,412 (GRCm39) V647E Het
Cacna1d A G 14: 29,797,108 (GRCm39) S1497P probably damaging Het
Cacna1e T A 1: 154,576,235 (GRCm39) I133F possibly damaging Het
Ccdc63 A T 5: 122,260,906 (GRCm39) L206H probably damaging Het
Cenatac A G 9: 44,323,748 (GRCm39) probably null Het
D430041D05Rik T C 2: 104,086,961 (GRCm39) T672A possibly damaging Het
D630045J12Rik G T 6: 38,119,546 (GRCm39) T1732K possibly damaging Het
D930020B18Rik T C 10: 121,507,736 (GRCm39) I158T probably damaging Het
Ddx52 G A 11: 83,835,392 (GRCm39) G106D probably benign Het
Dock2 A G 11: 34,586,032 (GRCm39) V550A probably benign Het
Dock2 C T 11: 34,586,120 (GRCm39) D521N probably damaging Het
F13b T C 1: 139,444,227 (GRCm39) probably null Het
Fchsd2 A G 7: 100,908,892 (GRCm39) K431R possibly damaging Het
Fez1 C T 9: 36,779,090 (GRCm39) R256C probably damaging Het
Gjd4 T A 18: 9,280,391 (GRCm39) Q229L probably benign Het
Gpr45 T A 1: 43,071,531 (GRCm39) I58N probably damaging Het
Gstm1 T A 3: 107,923,709 (GRCm39) I99F probably damaging Het
Gtpbp8 T A 16: 44,564,225 (GRCm39) T149S probably damaging Het
H2-Ab1 A G 17: 34,486,481 (GRCm39) D180G probably damaging Het
Hdhd5 A G 6: 120,494,016 (GRCm39) I188T possibly damaging Het
Hfm1 T C 5: 107,052,197 (GRCm39) I300V probably benign Het
Hnrnpr T G 4: 136,059,746 (GRCm39) D283E probably benign Het
Hsp90b1 T C 10: 86,527,572 (GRCm39) E768G unknown Het
Kcna4 C A 2: 107,126,663 (GRCm39) Q466K possibly damaging Het
Kcnk6 A G 7: 28,931,619 (GRCm39) L97P probably benign Het
Kics2 T C 10: 121,581,376 (GRCm39) S126P possibly damaging Het
Klf5 A G 14: 99,536,455 (GRCm39) S9G probably benign Het
Kmt2c C A 5: 25,504,489 (GRCm39) K3606N probably damaging Het
Kmt2c T C 5: 25,514,805 (GRCm39) T3013A probably benign Het
Lancl1 A G 1: 67,048,458 (GRCm39) Y207H possibly damaging Het
Lipe G C 7: 25,088,085 (GRCm39) probably benign Het
Lrrc66 T A 5: 73,768,224 (GRCm39) H239L probably benign Het
Ltbp2 C T 12: 84,834,166 (GRCm39) W1441* probably null Het
Man2a1 T C 17: 64,943,583 (GRCm39) S213P probably benign Het
Mapre2 C T 18: 23,991,119 (GRCm39) A171V possibly damaging Het
Mdn1 T A 4: 32,695,427 (GRCm39) D1155E probably damaging Het
Mki67 T C 7: 135,301,053 (GRCm39) D1327G possibly damaging Het
Mx2 T C 16: 97,348,664 (GRCm39) I279T probably damaging Het
Myo5c A G 9: 75,169,497 (GRCm39) T441A probably damaging Het
Nlrp9a T G 7: 26,258,143 (GRCm39) V587G possibly damaging Het
Npas2 A T 1: 39,377,188 (GRCm39) T517S probably damaging Het
Npy1r T C 8: 67,157,712 (GRCm39) S341P probably benign Het
Ntm A G 9: 29,322,988 (GRCm39) W11R probably benign Het
Nxpe2 A T 9: 48,238,096 (GRCm39) I53N possibly damaging Het
Onecut2 T C 18: 64,519,511 (GRCm39) F443L probably benign Het
Or10g6 T A 9: 39,934,050 (GRCm39) Y120* probably null Het
Or2r2 A G 6: 42,463,689 (GRCm39) V146A probably benign Het
Or52ac1 A T 7: 104,245,738 (GRCm39) Y217N probably damaging Het
Parp2 T A 14: 51,054,801 (GRCm39) V248E probably benign Het
Pcdh12 C A 18: 38,415,029 (GRCm39) V699L probably benign Het
Pja2 G A 17: 64,616,451 (GRCm39) P148L probably benign Het
Poglut3 C T 9: 53,301,821 (GRCm39) Q158* probably null Het
Ppip5k2 T G 1: 97,673,187 (GRCm39) D415A probably benign Het
Prss47 A G 13: 65,200,355 (GRCm39) S74P probably benign Het
Ptprg G T 14: 12,166,767 (GRCm38) M723I probably benign Het
Qsox2 A T 2: 26,118,444 (GRCm39) I109N probably damaging Het
Ranbp3l A G 15: 9,041,853 (GRCm39) E217G probably benign Het
Rgl2 C T 17: 34,152,403 (GRCm39) R367W probably damaging Het
Rgs12 T A 5: 35,122,841 (GRCm39) F208Y probably damaging Het
Rin3 C T 12: 102,334,893 (GRCm39) T268I unknown Het
Rttn T A 18: 89,007,647 (GRCm39) D427E probably benign Het
Samd13 G A 3: 146,352,079 (GRCm39) P91S probably benign Het
Samd9l T C 6: 3,374,201 (GRCm39) D1020G possibly damaging Het
Sec62 T G 3: 30,866,496 (GRCm39) L201V possibly damaging Het
Setdb1 C T 3: 95,261,852 (GRCm39) probably null Het
Sf3a3 A T 4: 124,616,708 (GRCm39) T197S probably benign Het
Slc20a1 A T 2: 129,051,844 (GRCm39) I618F possibly damaging Het
Slc38a3 A T 9: 107,533,865 (GRCm39) M186K probably benign Het
Slc39a13 T C 2: 90,893,503 (GRCm39) T319A probably benign Het
Slc44a4 T C 17: 35,137,520 (GRCm39) probably null Het
St3gal1 A C 15: 66,978,578 (GRCm39) D314E possibly damaging Het
Suclg1 A G 6: 73,248,074 (GRCm39) N265S probably benign Het
Sult2b1 A T 7: 45,433,361 (GRCm39) V2D unknown Het
Supv3l1 T A 10: 62,280,846 (GRCm39) I182F probably damaging Het
Tcp11l2 T C 10: 84,423,105 (GRCm39) probably null Het
Tenm2 C A 11: 35,963,625 (GRCm39) L935F probably damaging Het
Tnks T A 8: 35,318,912 (GRCm39) I790F probably damaging Het
Top2b C T 14: 16,420,411 (GRCm38) T1274I probably benign Het
Tpi1 A T 6: 124,789,441 (GRCm39) I178N probably damaging Het
Trav9d-1 A T 14: 53,030,153 (GRCm39) S86C probably damaging Het
Treml2 A G 17: 48,616,155 (GRCm39) E265G probably benign Het
Trpm7 A T 2: 126,668,685 (GRCm39) S744T possibly damaging Het
Usp33 T A 3: 152,097,999 (GRCm39) L909* probably null Het
Vcan A G 13: 89,869,805 (GRCm39) I210T probably damaging Het
Vcan A T 13: 89,879,576 (GRCm39) probably null Het
Vsig10l A T 7: 43,113,099 (GRCm39) D17V probably benign Het
Zbtb7b T A 3: 89,286,976 (GRCm39) T498S probably benign Het
Zfp366 T A 13: 99,366,076 (GRCm39) H412Q probably damaging Het
Zfp53 C A 17: 21,729,840 (GRCm39) D624E probably damaging Het
Zfp827 A T 8: 79,916,721 (GRCm39) D432V Het
Zic1 T C 9: 91,247,028 (GRCm39) T15A probably damaging Het
Zswim8 T C 14: 20,770,036 (GRCm39) C1368R probably damaging Het
Other mutations in Cspg4b
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- TGTTTCCACCAGAGCCATCC -3'
(R):5'- TTAAACACATGTGGAACAGGAGCC -3'

Sequencing Primer
(F):5'- GAGCCATCCTCTCCCACG -3'
(R):5'- GTGCCTGCTTGCTACTAGAAAAAGC -3'
Posted On 2019-06-26