Incidental Mutation 'R0281:Cspg4b'
ID 37561
Institutional Source Beutler Lab
Gene Symbol Cspg4b
Ensembl Gene ENSMUSG00000021763
Gene Name chondroitin sulfate proteoglycan 4B
Synonyms BC067074
MMRRC Submission 038503-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.201) question?
Stock # R0281 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 113429570-113507049 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 113505677 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 727 (I727F)
Ref Sequence ENSEMBL: ENSMUSP00000077297 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078163] [ENSMUST00000136755]
AlphaFold F6RXI4
Predicted Effect probably damaging
Transcript: ENSMUST00000078163
AA Change: I727F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000077297
Gene: ENSMUSG00000021763
AA Change: I727F

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000135096
SMART Domains Protein: ENSMUSP00000131959
Gene: ENSMUSG00000021763

DomainStartEndE-ValueType
Pfam:Cadherin_3 1 86 1.1e-9 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000136755
AA Change: I2269F

PolyPhen 2 Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000119993
Gene: ENSMUSG00000021763
AA Change: I2269F

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
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.9%
Validation Efficiency 98% (104/106)
Allele List at MGI

All alleles(2) : Targeted(2)

Other mutations in this stock
Total: 101 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933430I17Rik A T 4: 62,464,304 (GRCm39) R374* probably null Het
5930422O12Rik A T 8: 33,919,407 (GRCm39) R76* probably null Het
A1cf G A 19: 31,923,214 (GRCm39) A505T probably benign Het
Abcc5 T A 16: 20,241,150 (GRCm39) I12F probably damaging Het
Abcf2 T C 5: 24,771,562 (GRCm39) E555G probably damaging Het
Acan A T 7: 78,750,033 (GRCm39) E1601D probably damaging Het
Acsbg3 T A 17: 57,192,169 (GRCm39) Y577* probably null Het
Adam2 T A 14: 66,275,055 (GRCm39) K559N probably benign Het
Akap11 A C 14: 78,747,529 (GRCm39) D1619E possibly damaging Het
Ankrd11 T C 8: 123,622,307 (GRCm39) D515G probably benign Het
Ankrd27 T A 7: 35,318,796 (GRCm39) N562K probably damaging Het
Atp10b T C 11: 43,044,131 (GRCm39) I119T probably benign Het
Atr T C 9: 95,819,619 (GRCm39) I2202T probably benign Het
Bltp2 C T 11: 78,162,750 (GRCm39) L871F possibly damaging Het
Brd4 T A 17: 32,432,514 (GRCm39) probably benign Het
Catsperg2 C T 7: 29,405,996 (GRCm39) C634Y possibly damaging Het
Cep192 A G 18: 67,961,553 (GRCm39) probably benign Het
Cfap65 T A 1: 74,966,230 (GRCm39) I366F probably damaging Het
Cnga4 G T 7: 105,056,875 (GRCm39) R326L probably damaging Het
Cntnap5b T A 1: 99,999,878 (GRCm39) M212K probably benign Het
Col6a6 T A 9: 105,661,315 (GRCm39) M265L probably benign Het
Cyp26b1 A T 6: 84,551,538 (GRCm39) F417Y probably damaging Het
Dhx15 A T 5: 52,308,088 (GRCm39) M768K probably benign Het
Drc7 G A 8: 95,797,881 (GRCm39) R433H possibly damaging Het
Duox2 C T 2: 122,122,785 (GRCm39) V550M probably benign Het
Elmo2 A G 2: 165,138,810 (GRCm39) L456P probably damaging Het
Fbxo39 T C 11: 72,208,356 (GRCm39) I236T probably benign Het
Fezf2 A G 14: 12,343,977 (GRCm38) C305R probably damaging Het
Fndc3b C A 3: 27,511,155 (GRCm39) C785F probably benign Het
Gm12253 T C 11: 58,330,838 (GRCm39) probably benign Het
Gnat2 T A 3: 108,002,878 (GRCm39) Y95* probably null Het
Gopc T C 10: 52,226,774 (GRCm39) K220E probably damaging Het
Hectd4 G A 5: 121,392,314 (GRCm39) D193N possibly damaging Het
Hexa G A 9: 59,461,509 (GRCm39) probably null Het
Hspa4l T C 3: 40,739,840 (GRCm39) probably benign Het
Hspa5 T C 2: 34,664,332 (GRCm39) S301P probably damaging Het
Ice1 A T 13: 70,752,166 (GRCm39) S1307T possibly damaging Het
Igtp T C 11: 58,096,880 (GRCm39) L17P probably damaging Het
Itk T C 11: 46,244,743 (GRCm39) Y225C probably damaging Het
Kifc3 A G 8: 95,830,088 (GRCm39) V560A probably damaging Het
Lama1 A G 17: 68,124,564 (GRCm39) N2875D probably damaging Het
Lasp1 C A 11: 97,697,677 (GRCm39) C32* probably null Het
Lcp2 T A 11: 34,019,854 (GRCm39) probably benign Het
Lhx9 C T 1: 138,760,642 (GRCm39) G236D probably benign Het
Lrrc38 A T 4: 143,076,979 (GRCm39) I81F probably damaging Het
Ly6a C T 15: 74,867,236 (GRCm39) V94M probably benign Het
Map3k13 A G 16: 21,732,907 (GRCm39) E503G probably damaging Het
Mertk T C 2: 128,624,541 (GRCm39) probably benign Het
Mrtfb T A 16: 13,230,027 (GRCm39) I915N probably damaging Het
Msantd2 G A 9: 37,434,515 (GRCm39) D252N possibly damaging Het
Mtmr12 T A 15: 12,257,792 (GRCm39) L290* probably null Het
Myo3a T C 2: 22,250,409 (GRCm39) I92T probably benign Het
Naglu T A 11: 100,964,853 (GRCm39) N313K probably damaging Het
Nceh1 T C 3: 27,276,953 (GRCm39) V92A possibly damaging Het
Ncf4 A G 15: 78,135,083 (GRCm39) T47A probably damaging Het
Nrp1 T A 8: 129,187,164 (GRCm39) F403L probably damaging Het
Nxph3 T C 11: 95,402,082 (GRCm39) T111A possibly damaging Het
Obscn T A 11: 58,929,441 (GRCm39) E6061V probably damaging Het
Obsl1 C A 1: 75,469,571 (GRCm39) G1149W probably damaging Het
Or14c39 A G 7: 86,344,068 (GRCm39) T135A probably benign Het
Or2k2 A T 4: 58,784,981 (GRCm39) V247E probably damaging Het
Or2p2 T A 13: 21,256,544 (GRCm39) Y309F probably benign Het
Or5b123 A G 19: 13,596,849 (GRCm39) T65A probably benign Het
Or5d14 C T 2: 87,880,756 (GRCm39) V71I possibly damaging Het
Or5p68 A C 7: 107,946,121 (GRCm39) D22E probably benign Het
Or6c70 T A 10: 129,710,415 (GRCm39) L70F possibly damaging Het
Pde9a T C 17: 31,674,080 (GRCm39) V55A probably damaging Het
Pip4k2c A T 10: 127,041,690 (GRCm39) probably null Het
Plvap T C 8: 71,964,026 (GRCm39) N112S probably damaging Het
Pop1 T A 15: 34,530,004 (GRCm39) probably null Het
Ppip5k2 T C 1: 97,644,278 (GRCm39) H1113R possibly damaging Het
Ptprk A T 10: 28,449,388 (GRCm39) I962F probably damaging Het
Rad51ap2 T C 12: 11,507,043 (GRCm39) S322P possibly damaging Het
Rasal1 A G 5: 120,812,670 (GRCm39) T565A probably benign Het
Rbm15 C A 3: 107,238,471 (GRCm39) R642S probably damaging Het
Rpsa G A 9: 119,960,069 (GRCm39) E211K possibly damaging Het
Ryr3 A G 2: 112,517,155 (GRCm39) S3303P probably damaging Het
Scg2 T A 1: 79,413,229 (GRCm39) N458I possibly damaging Het
Setx A G 2: 29,069,655 (GRCm39) T2487A probably benign Het
Slc4a5 G A 6: 83,244,549 (GRCm39) probably benign Het
Slc8a2 T A 7: 15,874,914 (GRCm39) D387E probably benign Het
Smarcc2 A G 10: 128,310,591 (GRCm39) T407A probably benign Het
Snap25 A G 2: 136,619,384 (GRCm39) D179G probably damaging Het
Socs4 T C 14: 47,527,325 (GRCm39) S74P probably benign Het
Sp6 T A 11: 96,912,751 (GRCm39) Y155N probably benign Het
Srrt C T 5: 137,294,389 (GRCm39) probably benign Het
Steap1 C T 5: 5,786,431 (GRCm39) M335I probably benign Het
Stra6 A T 9: 58,052,772 (GRCm39) Y250F probably benign Het
Svil T C 18: 5,094,582 (GRCm39) S1421P probably damaging Het
Tcea3 G A 4: 135,998,677 (GRCm39) C317Y probably damaging Het
Tmco6 T C 18: 36,870,757 (GRCm39) L117S probably damaging Het
Trp53bp1 T C 2: 121,100,718 (GRCm39) K89E probably damaging Het
Trp63 T A 16: 25,583,052 (GRCm39) probably benign Het
Ube2d2a A G 18: 35,933,185 (GRCm39) Y74C probably damaging Het
Usp19 T G 9: 108,375,708 (GRCm39) F885V probably damaging Het
Utp18 T A 11: 93,773,003 (GRCm39) probably benign Het
Vmn2r116 T C 17: 23,620,387 (GRCm39) I707T possibly damaging Het
Vmn2r68 T A 7: 84,882,457 (GRCm39) probably benign Het
Vmn2r68 C G 7: 84,882,466 (GRCm39) probably null Het
Zfp318 C T 17: 46,723,540 (GRCm39) P1848S probably benign Het
Zfp984 G T 4: 147,839,722 (GRCm39) N376K probably benign 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
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
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'- TGGGGTCAACTCAGTGGCAAAG -3'
(R):5'- AAGTTCACCCATGCGTCCCAAG -3'

Sequencing Primer
(F):5'- GAGCCAAATATAGATGCCAAGGTC -3'
(R):5'- GCCAGGCTGCTTCTAATAAGG -3'
Posted On 2013-05-23