Incidental Mutation 'R6291:Cspg4b'
ID 508458
Institutional Source Beutler Lab
Gene Symbol Cspg4b
Ensembl Gene ENSMUSG00000021763
Gene Name chondroitin sulfate proteoglycan 4B
Synonyms BC067074
Accession Numbers
Essential gene? Probably non essential (E-score: 0.201) question?
Stock # R6291 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 113429570-113507049 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 113456981 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 1009 (I1009N)
Ref Sequence ENSEMBL: ENSMUSP00000119993 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000136755]
AlphaFold F6RXI4
Predicted Effect possibly damaging
Transcript: ENSMUST00000136755
AA Change: I1009N

PolyPhen 2 Score 0.846 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000119993
Gene: ENSMUSG00000021763
AA Change: I1009N

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: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.3%
Validation Efficiency 98% (86/88)
Allele List at MGI

All alleles(2) : Targeted(2)

Other mutations in this stock
Total: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 C T 8: 87,293,173 (GRCm39) G5D possibly damaging Het
Adamts9 T C 6: 92,867,101 (GRCm39) K95R probably damaging Het
Adap1 G T 5: 139,259,246 (GRCm39) L314M probably benign Het
Alkbh1 T A 12: 87,475,864 (GRCm39) E306V possibly damaging Het
Alpk2 T A 18: 65,438,972 (GRCm39) D1274V possibly damaging Het
Ankrd31 A C 13: 97,014,746 (GRCm39) K1188N possibly damaging Het
Aox1 T A 1: 58,369,965 (GRCm39) M759K probably damaging Het
Atp13a3 T A 16: 30,155,061 (GRCm39) D961V probably damaging Het
Bcl11a G A 11: 24,108,321 (GRCm39) G100R probably damaging Het
Bpifc G A 10: 85,812,122 (GRCm39) A362V probably damaging Het
Btaf1 C T 19: 36,950,408 (GRCm39) T546I probably benign Het
Casd1 C A 6: 4,619,834 (GRCm39) P193Q probably damaging Het
Cdhr1 T C 14: 36,811,422 (GRCm39) T230A probably benign Het
Celsr3 T G 9: 108,706,041 (GRCm39) D841E probably damaging Het
Cenpj T C 14: 56,789,433 (GRCm39) D872G probably benign Het
Cep95 G T 11: 106,706,422 (GRCm39) A559S probably damaging Het
Chpt1 A T 10: 88,311,306 (GRCm39) C62* probably null Het
Cspp1 A G 1: 10,134,559 (GRCm39) K103R probably damaging Het
Ctla4 T C 1: 60,951,837 (GRCm39) V122A probably benign Het
Cyp3a11 A G 5: 145,799,237 (GRCm39) F317L possibly damaging Het
Daam1 T C 12: 71,993,025 (GRCm39) L338P unknown Het
Dcc T A 18: 71,815,238 (GRCm39) I379L probably benign Het
Dennd2c C A 3: 103,038,925 (GRCm39) C24* probably null Het
Dnai3 G A 3: 145,772,648 (GRCm39) S466L probably benign Het
Dnajc12 A G 10: 63,233,053 (GRCm39) I65V probably benign Het
Dock3 T A 9: 106,785,631 (GRCm39) M208L probably benign Het
Dsg1b T C 18: 20,537,848 (GRCm39) I588T possibly damaging Het
Eif1b T C 9: 120,323,206 (GRCm39) L22S probably benign Het
Ep300 T A 15: 81,532,708 (GRCm39) S1649T unknown Het
Eps15 CAAA CAA 4: 109,162,900 (GRCm39) probably null Het
Ercc6 A T 14: 32,291,943 (GRCm39) E1102D probably benign Het
Gsdmc3 T C 15: 63,732,090 (GRCm39) N312S probably benign Het
Guca2b A T 4: 119,514,890 (GRCm39) L57Q probably damaging Het
Heatr5b G T 17: 79,069,526 (GRCm39) H1740Q probably benign Het
Hecw1 G A 13: 14,697,592 (GRCm39) probably benign Het
Icam5 A G 9: 20,948,217 (GRCm39) H675R probably benign Het
Il18rap T C 1: 40,564,049 (GRCm39) F56L probably benign Het
Iqgap3 T A 3: 87,997,037 (GRCm39) probably null Het
Itsn1 T C 16: 91,664,984 (GRCm39) probably benign Het
Jakmip3 A T 7: 138,622,585 (GRCm39) D315V probably damaging Het
Kif24 A G 4: 41,413,959 (GRCm39) Y328H probably damaging Het
Kmt2a A T 9: 44,744,171 (GRCm39) probably benign Het
Kng1 A G 16: 22,898,475 (GRCm39) E625G probably damaging Het
Man2b1 C T 8: 85,823,675 (GRCm39) T973I probably benign Het
Masp2 G A 4: 148,687,210 (GRCm39) V31M probably damaging Het
Myo18b C T 5: 113,013,601 (GRCm39) R785H possibly damaging Het
Naa15 G A 3: 51,350,212 (GRCm39) G103D probably damaging Het
Or4f15 A G 2: 111,813,969 (GRCm39) V150A probably benign Het
Or5m11b A G 2: 85,805,926 (GRCm39) Y113C probably damaging Het
Or7e177 T A 9: 20,211,899 (GRCm39) D134E probably damaging Het
Papln A G 12: 83,829,789 (GRCm39) N970S probably benign Het
Pick1 T A 15: 79,135,928 (GRCm39) probably null Het
Pigr A C 1: 130,769,498 (GRCm39) D103A probably benign Het
Plekhf1 A C 7: 37,921,029 (GRCm39) F180V possibly damaging Het
Plxnc1 A G 10: 94,669,504 (GRCm39) probably null Het
Polr3f A G 2: 144,376,308 (GRCm39) I136V probably damaging Het
Ppp2r2c T C 5: 37,097,468 (GRCm39) M218T possibly damaging Het
Prox2 C T 12: 85,136,420 (GRCm39) V466I probably damaging Het
Prrc2a G A 17: 35,373,909 (GRCm39) L1479F probably damaging Het
Rbm24 T A 13: 46,575,313 (GRCm39) probably null Het
Rcc1l A T 5: 134,195,560 (GRCm39) probably null Het
Ripk4 A C 16: 97,556,323 (GRCm39) L140R probably damaging Het
Rmnd1 A T 10: 4,372,135 (GRCm39) L188Q probably damaging Het
Rnf170 C T 8: 26,630,992 (GRCm39) P249S probably damaging Het
Rras A G 7: 44,667,595 (GRCm39) probably null Het
Rsf1 G A 7: 97,229,117 (GRCm39) probably benign Het
Scn7a T A 2: 66,530,458 (GRCm39) D629V probably damaging Het
Sipa1l3 A G 7: 29,087,558 (GRCm39) S556P probably damaging Het
Smarca2 C T 19: 26,608,292 (GRCm39) A117V probably damaging Het
Snca C T 6: 60,792,702 (GRCm39) A69T probably damaging Het
Snx2 T C 18: 53,342,737 (GRCm39) probably null Het
Spp1 T A 5: 104,587,242 (GRCm39) S109T possibly damaging Het
Stoml3 T C 3: 53,414,937 (GRCm39) L243P probably damaging Het
Susd2 A G 10: 75,473,408 (GRCm39) F789L possibly damaging Het
Sycp1 A G 3: 102,816,277 (GRCm39) M419T probably damaging Het
Thoc1 T C 18: 9,993,330 (GRCm39) V563A probably benign Het
Tmprss11g T C 5: 86,635,281 (GRCm39) I398V probably damaging Het
Tox3 A G 8: 90,975,566 (GRCm39) L355P probably damaging Het
Tpp1 A G 7: 105,396,223 (GRCm39) I492T probably benign Het
Trim21 A T 7: 102,213,289 (GRCm39) L3Q probably damaging Het
Ttn A C 2: 76,738,080 (GRCm39) V4153G probably benign Het
Ttn T C 2: 76,744,638 (GRCm39) probably benign Het
Unc80 A G 1: 66,560,756 (GRCm39) E828G possibly damaging Het
Vav3 A G 3: 109,416,170 (GRCm39) N263S possibly damaging Het
Vmn1r183 A C 7: 23,754,982 (GRCm39) T262P possibly damaging Het
Vmn2r67 G A 7: 84,799,142 (GRCm39) P522S possibly damaging Het
Vps35 T A 8: 86,026,086 (GRCm39) M1L probably benign Het
Xpo7 A T 14: 70,942,130 (GRCm39) L79* probably null Het
Zc3h14 G A 12: 98,726,087 (GRCm39) R324H probably damaging Het
Zfp330 T C 8: 83,499,613 (GRCm39) T6A probably damaging Het
Zfp948 T A 17: 21,807,286 (GRCm39) H159Q unknown 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
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'- AAGTGACAATAGGGCCACTG -3'
(R):5'- GGTAGAGCTTCCGAATTGGG -3'

Sequencing Primer
(F):5'- TGACAATAGGGCCACTGGATTCAC -3'
(R):5'- GAATTGGGTCAGCAGCTTTCACC -3'
Posted On 2018-03-15