Incidental Mutation 'R1434:Cspg4b'
ID 159408
Institutional Source Beutler Lab
Gene Symbol Cspg4b
Ensembl Gene ENSMUSG00000021763
Gene Name chondroitin sulfate proteoglycan 4B
Synonyms BC067074
MMRRC Submission 039489-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.222) question?
Stock # R1434 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 113429570-113507049 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 113505026 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 510 (V510I)
Ref Sequence ENSEMBL: ENSMUSP00000077297 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078163] [ENSMUST00000136755]
AlphaFold F6RXI4
Predicted Effect possibly damaging
Transcript: ENSMUST00000078163
AA Change: V510I

PolyPhen 2 Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000077297
Gene: ENSMUSG00000021763
AA Change: V510I

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 probably benign
Transcript: ENSMUST00000136755
AA Change: V2052I

PolyPhen 2 Score 0.451 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000119993
Gene: ENSMUSG00000021763
AA Change: V2052I

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 0.1795 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 90.4%
Validation Efficiency 99% (73/74)
Allele List at MGI

All alleles(2) : Targeted(2)

Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 G T 1: 71,348,959 (GRCm39) H851N probably benign Het
Adamtsl4 T C 3: 95,588,094 (GRCm39) Y631C probably damaging Het
Ankhd1 A G 18: 36,758,212 (GRCm39) I969V probably benign Het
Apob A G 12: 8,059,715 (GRCm39) I2699M probably damaging Het
Aqr A T 2: 113,980,890 (GRCm39) L297Q probably damaging Het
Arb2a A T 13: 77,910,041 (GRCm39) Y98F probably damaging Het
Camsap1 A G 2: 25,835,190 (GRCm39) Y301H probably damaging Het
Ccdc88c A G 12: 100,905,425 (GRCm39) probably benign Het
Cd209b T A 8: 3,973,367 (GRCm39) I106F possibly damaging Het
Cdkn1b T A 6: 134,898,060 (GRCm39) W60R probably damaging Het
Coasy A G 11: 100,975,822 (GRCm39) probably benign Het
Col2a1 T A 15: 97,877,532 (GRCm39) Q1017L probably damaging Het
Ctnnal1 T A 4: 56,847,971 (GRCm39) N56I probably damaging Het
Cyb561d2 T A 9: 107,418,842 (GRCm39) probably benign Het
Dcst1 G T 3: 89,259,826 (GRCm39) T632N probably damaging Het
Ddx1 C T 12: 13,287,232 (GRCm39) V267I probably benign Het
Dnah10 A T 5: 124,852,050 (GRCm39) M1736L probably benign Het
Eln G A 5: 134,758,291 (GRCm39) probably benign Het
Elp1 T A 4: 56,781,193 (GRCm39) E493D probably benign Het
Enpp2 A T 15: 54,726,077 (GRCm39) D566E probably damaging Het
Ezh1 T C 11: 101,085,743 (GRCm39) K638R probably damaging Het
Fdx2 C A 9: 20,984,694 (GRCm39) G37W probably benign Het
Grin2b T C 6: 135,820,193 (GRCm39) I340V probably benign Het
Il16 T C 7: 83,304,520 (GRCm39) T671A probably benign Het
Kcnd2 T A 6: 21,216,356 (GRCm39) M20K probably damaging Het
Kndc1 C T 7: 139,502,600 (GRCm39) S962F probably damaging Het
L1td1 A G 4: 98,626,054 (GRCm39) S750G possibly damaging Het
Lama2 A G 10: 27,084,366 (GRCm39) C935R probably damaging Het
Lgalsl T C 11: 20,776,418 (GRCm39) D158G possibly damaging Het
Lman1 A T 18: 66,126,144 (GRCm39) probably null Het
Lmtk2 A G 5: 144,111,407 (GRCm39) E709G probably damaging Het
Lrfn3 T C 7: 30,055,352 (GRCm39) H531R possibly damaging Het
Mark3 A G 12: 111,589,759 (GRCm39) probably benign Het
Mov10 T C 3: 104,702,490 (GRCm39) E997G probably damaging Het
Myo15a T A 11: 60,395,157 (GRCm39) W2484R probably benign Het
Myo1g G T 11: 6,459,372 (GRCm39) Q833K probably benign Het
Ncoa3 T A 2: 165,897,430 (GRCm39) D740E probably benign Het
Nol12 A G 15: 78,822,153 (GRCm39) probably benign Het
Nrxn2 T A 19: 6,493,642 (GRCm39) probably null Het
Nsfl1c A C 2: 151,342,666 (GRCm39) I79L probably benign Het
Or52b2 T C 7: 104,986,468 (GRCm39) I152V probably benign Het
Or5b108 A G 19: 13,168,662 (GRCm39) I210M probably benign Het
Or5k1 G T 16: 58,617,811 (GRCm39) H133N probably benign Het
Osbpl8 A C 10: 111,127,442 (GRCm39) E842A probably benign Het
Pdxk G T 10: 78,276,645 (GRCm39) T310K probably benign Het
Phip T G 9: 82,841,658 (GRCm39) K54Q probably damaging Het
Pklr A T 3: 89,050,342 (GRCm39) D366V probably damaging Het
Plxna2 T A 1: 194,433,848 (GRCm39) probably benign Het
Ppp4r3a A T 12: 101,009,783 (GRCm39) V618E probably damaging Het
Prdm12 A T 2: 31,530,319 (GRCm39) Q70L possibly damaging Het
Ptgr3 A G 18: 84,112,596 (GRCm39) K91E probably benign Het
Ptpn21 A T 12: 98,654,849 (GRCm39) M706K probably damaging Het
Ptprq A T 10: 107,422,575 (GRCm39) F1606I probably damaging Het
Rasgrp4 T C 7: 28,837,152 (GRCm39) probably null Het
Rlbp1 C A 7: 79,029,661 (GRCm39) probably null Het
Rtp2 T C 16: 23,746,193 (GRCm39) D166G probably benign Het
Ryr3 A C 2: 112,475,604 (GRCm39) F4481V probably damaging Het
Scn2a A G 2: 65,532,335 (GRCm39) D649G possibly damaging Het
Slc30a5 T A 13: 100,939,950 (GRCm39) D655V probably damaging Het
Slco5a1 G A 1: 12,942,132 (GRCm39) A838V probably benign Het
Spata6l G T 19: 28,905,039 (GRCm39) probably benign Het
Srprb A G 9: 103,067,501 (GRCm39) V239A probably damaging Het
Tceanc2 T C 4: 107,004,837 (GRCm39) T104A probably benign Het
Tcp1 T C 17: 13,141,493 (GRCm39) probably null Het
Unc13b C T 4: 43,239,385 (GRCm39) R1056* probably null Het
Wdr19 G A 5: 65,380,847 (GRCm39) probably benign Het
Zfhx4 T A 3: 5,306,919 (GRCm39) H48Q probably benign Het
Zfp787 T A 7: 6,135,234 (GRCm39) H339L probably damaging Het
Zfp839 G T 12: 110,827,333 (GRCm39) R408L 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
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
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'- GTGAACCTCACAGACCTGCTTCTC -3'
(R):5'- AACTGCTCTTCGAACGAGTCGTCC -3'

Sequencing Primer
(F):5'- CTCTCAGCAGTGACCAATGGTAG -3'
(R):5'- CATGGACTAGGGGTTGTATCAC -3'
Posted On 2014-03-14