Incidental Mutation 'R4779:Cspg4b'
ID 368175
Institutional Source Beutler Lab
Gene Symbol Cspg4b
Ensembl Gene ENSMUSG00000021763
Gene Name chondroitin sulfate proteoglycan 4B
Synonyms BC067074
MMRRC Submission 045240-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.201) question?
Stock # R4779 (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 113504870 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 2000 (N2000Y)
Ref Sequence ENSEMBL: ENSMUSP00000119993 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078163] [ENSMUST00000136755]
AlphaFold F6RXI4
Predicted Effect probably benign
Transcript: ENSMUST00000078163
AA Change: N458Y

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000077297
Gene: ENSMUSG00000021763
AA Change: N458Y

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: N2000Y

PolyPhen 2 Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000119993
Gene: ENSMUSG00000021763
AA Change: N2000Y

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: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.8%
Validation Efficiency 98% (95/97)
Allele List at MGI

All alleles(2) : Targeted(2)

Other mutations in this stock
Total: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik T A 16: 4,667,613 (GRCm39) S335T unknown Het
4933421I07Rik T A 7: 42,097,455 (GRCm39) H13L possibly damaging Het
6030468B19Rik A G 11: 117,696,834 (GRCm39) T185A probably benign Het
Abcc1 T A 16: 14,228,635 (GRCm39) V294E probably benign Het
Abhd16b A G 2: 181,135,253 (GRCm39) T52A possibly damaging Het
Actl7a A T 4: 56,743,632 (GRCm39) N53I probably benign Het
Ankmy1 T C 1: 92,814,445 (GRCm39) E354G probably benign Het
Arap1 T C 7: 101,053,574 (GRCm39) F1301S probably damaging Het
Arfgef1 A T 1: 10,223,958 (GRCm39) W1447R probably damaging Het
Atoh7 ATGGCGCT AT 10: 62,936,187 (GRCm39) probably benign Het
Ccl24 T A 5: 135,601,811 (GRCm39) T6S possibly damaging Het
Cep152 G T 2: 125,410,812 (GRCm39) P1292Q possibly damaging Het
Cfap46 T C 7: 139,239,731 (GRCm39) probably benign Het
Chd6 A T 2: 160,791,477 (GRCm39) S2627T probably damaging Het
Chd8 A T 14: 52,468,963 (GRCm39) S552T probably damaging Het
Ciita C A 16: 10,329,230 (GRCm39) L502M probably damaging Het
Clic1 T C 17: 35,271,463 (GRCm39) F31S probably damaging Het
Cntnap1 T A 11: 101,068,898 (GRCm39) I147N possibly damaging Het
Cplane1 T C 15: 8,248,322 (GRCm39) S1624P probably benign Het
Crispld1 T A 1: 17,819,831 (GRCm39) D276E probably benign Het
Cspg4 A T 9: 56,793,092 (GRCm39) N276Y probably damaging Het
Cwf19l2 A G 9: 3,410,035 (GRCm39) M55V possibly damaging Het
Cyp2c69 T C 19: 39,866,038 (GRCm39) N185S probably benign Het
Dop1b T C 16: 93,553,969 (GRCm39) I301T probably damaging Het
Epg5 T C 18: 78,034,580 (GRCm39) V1443A probably benign Het
Ephb4 T C 5: 137,363,964 (GRCm39) V612A probably benign Het
Fcgbp T A 7: 27,794,362 (GRCm39) C1189S probably damaging Het
Fgfr2 T G 7: 129,786,923 (GRCm39) probably benign Het
Fmn2 A G 1: 174,437,461 (GRCm39) E1144G probably damaging Het
Fmo3 T C 1: 162,796,407 (GRCm39) Y55C probably damaging Het
Frmpd1 A G 4: 45,229,865 (GRCm39) T11A probably damaging Het
Ghdc G T 11: 100,660,929 (GRCm39) Q79K possibly damaging Het
Gm11677 C T 11: 111,615,537 (GRCm39) noncoding transcript Het
Gm5591 T C 7: 38,221,680 (GRCm39) T130A probably damaging Het
Heg1 T G 16: 33,540,142 (GRCm39) D367E probably benign Het
Igkv13-84 C T 6: 68,916,894 (GRCm39) P64S probably damaging Het
Il10rb T A 16: 91,211,545 (GRCm39) S128T possibly damaging Het
Il15ra T A 2: 11,723,117 (GRCm39) I47N probably damaging Het
Il33 C A 19: 29,936,311 (GRCm39) S207* probably null Het
Itgb7 A G 15: 102,132,848 (GRCm39) Y155H possibly damaging Het
Kdm5a A G 6: 120,346,060 (GRCm39) probably benign Het
Kif11 G A 19: 37,406,397 (GRCm39) V987I probably benign Het
Krtap19-2 G A 16: 88,670,762 (GRCm39) probably benign Het
Krtap24-1 T A 16: 88,408,417 (GRCm39) R236S probably damaging Het
L3mbtl2 A G 15: 81,566,813 (GRCm39) I406V probably benign Het
Lrp2 A T 2: 69,290,059 (GRCm39) H3593Q possibly damaging Het
Mavs G T 2: 131,082,285 (GRCm39) W56C probably damaging Het
Mn1 C T 5: 111,567,526 (GRCm39) P499S probably damaging Het
Ntn5 T A 7: 45,340,895 (GRCm39) C178S probably damaging Het
Nufip2 A G 11: 77,577,154 (GRCm39) H34R unknown Het
Or5p51 T A 7: 107,444,755 (GRCm39) M62L possibly damaging Het
Or6f2 T A 7: 139,756,363 (GRCm39) L110Q probably damaging Het
Osbpl10 C T 9: 114,938,598 (GRCm39) S86L probably damaging Het
Pitpna T A 11: 75,511,153 (GRCm39) M242K possibly damaging Het
Pnpla6 T C 8: 3,572,838 (GRCm39) V345A probably benign Het
Polk A G 13: 96,632,999 (GRCm39) probably null Het
Polr3k A G 2: 181,506,340 (GRCm39) Y30C probably damaging Het
Pramel6 A G 2: 87,339,941 (GRCm39) H235R probably benign Het
Ptpra G A 2: 130,379,537 (GRCm39) V364I probably damaging Het
Recql A G 6: 142,309,426 (GRCm39) probably benign Het
Ring1 T C 17: 34,241,263 (GRCm39) probably benign Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Samsn1 C A 16: 75,744,177 (GRCm39) noncoding transcript Het
Scara5 A G 14: 65,968,198 (GRCm39) H157R probably benign Het
Sdc3 C T 4: 130,546,376 (GRCm39) P245L probably damaging Het
Slc18b1 T A 10: 23,696,767 (GRCm39) M318K possibly damaging Het
Slc26a10 C T 10: 127,009,224 (GRCm39) A638T possibly damaging Het
Slc35f2 T A 9: 53,717,013 (GRCm39) W259R possibly damaging Het
Spata13 G A 14: 60,991,356 (GRCm39) W366* probably null Het
Sptlc3 A G 2: 139,431,509 (GRCm39) T344A probably benign Het
Tap1 T C 17: 34,412,865 (GRCm39) V560A probably damaging Het
Tbc1d1 T C 5: 64,435,389 (GRCm39) probably null Het
Tlr11 A G 14: 50,598,707 (GRCm39) Y231C possibly damaging Het
Tmem245 A T 4: 56,936,468 (GRCm39) S230T possibly damaging Het
Tnnt3 C T 7: 142,068,020 (GRCm39) probably benign Het
Traf7 C G 17: 24,729,412 (GRCm39) probably benign Het
Tshz2 A G 2: 169,804,601 (GRCm39) probably benign Het
Tshz3 T C 7: 36,468,397 (GRCm39) S129P probably damaging Het
Ttc6 A T 12: 57,776,237 (GRCm39) N1727I probably damaging Het
Ttc7b A G 12: 100,369,621 (GRCm39) S383P probably damaging Het
Tulp3 T A 6: 128,300,083 (GRCm39) I448F probably damaging Het
Ube3b T C 5: 114,542,778 (GRCm39) probably null Het
Vav1 G A 17: 57,603,552 (GRCm39) V84I probably damaging Het
Vav3 A T 3: 109,416,110 (GRCm39) K243I possibly damaging Het
Vmn1r25 T A 6: 57,956,011 (GRCm39) I93F probably damaging Het
Vmn2r73 C T 7: 85,520,923 (GRCm39) W348* probably null Het
Zdbf2 A G 1: 63,342,397 (GRCm39) R259G possibly 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
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'- AAGCTCTTCCACCTGGATGTC -3'
(R):5'- TCCTCTGTCCTAAGCTGGTG -3'

Sequencing Primer
(F):5'- ACCTGGATGTCACCCCC -3'
(R):5'- GTGAGCCACTCTGTTGGTCAC -3'
Posted On 2015-12-29