Incidental Mutation 'R4658:Pcdhb17'
ID 352641
Institutional Source Beutler Lab
Gene Symbol Pcdhb17
Ensembl Gene ENSMUSG00000046387
Gene Name protocadherin beta 17
Synonyms Pcdhb16, PcdhbQ
MMRRC Submission 041918-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R4658 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 37618040-37621345 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 37619652 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Serine at position 481 (G481S)
Ref Sequence ENSEMBL: ENSMUSP00000055072 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051442] [ENSMUST00000053856] [ENSMUST00000055949] [ENSMUST00000115661] [ENSMUST00000194544]
AlphaFold Q91VD8
Predicted Effect probably benign
Transcript: ENSMUST00000051442
SMART Domains Protein: ENSMUSP00000056347
Gene: ENSMUSG00000047910

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
CA 46 132 7.7e-1 SMART
CA 156 241 1.93e-17 SMART
CA 265 346 4.2e-27 SMART
CA 369 450 1.08e-24 SMART
CA 474 560 3.31e-25 SMART
CA 590 671 2.87e-11 SMART
Pfam:Cadherin_C_2 687 770 4.1e-27 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000053856
AA Change: G481S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000055072
Gene: ENSMUSG00000046387
AA Change: G481S

DomainStartEndE-ValueType
Pfam:Cadherin_2 31 112 5.8e-35 PFAM
CA 155 240 2.42e-18 SMART
CA 264 345 8.03e-24 SMART
CA 368 449 5.81e-21 SMART
CA 473 559 8.15e-25 SMART
CA 589 670 6.34e-13 SMART
Pfam:Cadherin_C_2 686 770 1.8e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000055949
SMART Domains Protein: ENSMUSP00000052113
Gene: ENSMUSG00000048347

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:Cadherin_2 30 112 3.1e-34 PFAM
CA 155 240 7.97e-19 SMART
CA 264 345 6.27e-26 SMART
CA 368 449 2.63e-19 SMART
CA 473 559 7.09e-25 SMART
CA 589 670 2.87e-11 SMART
Pfam:Cadherin_C_2 687 771 7.9e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115661
SMART Domains Protein: ENSMUSP00000111325
Gene: ENSMUSG00000103458

DomainStartEndE-ValueType
CA 20 131 5.3e-2 SMART
CA 155 240 1.51e-19 SMART
CA 264 348 7.6e-25 SMART
CA 372 453 1.42e-24 SMART
CA 477 563 1.42e-24 SMART
CA 594 674 4.12e-12 SMART
low complexity region 706 721 N/A INTRINSIC
Pfam:Cadherin_tail 796 930 3.9e-58 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000193984
Predicted Effect probably benign
Transcript: ENSMUST00000194544
SMART Domains Protein: ENSMUSP00000141847
Gene: ENSMUSG00000102836

DomainStartEndE-ValueType
Blast:CA 18 66 5e-20 BLAST
Meta Mutation Damage Score 0.0948 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency 99% (88/89)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb A T 5: 114,338,625 (GRCm39) R778S probably damaging Het
Adam17 A G 12: 21,382,161 (GRCm39) C567R probably damaging Het
Ankrd28 G A 14: 31,432,825 (GRCm39) A758V probably damaging Het
Atrn T C 2: 130,775,349 (GRCm39) Y151H probably damaging Het
B3gat3 A G 19: 8,902,996 (GRCm39) T118A possibly damaging Het
Camta1 A G 4: 151,228,367 (GRCm39) C822R probably damaging Het
Capn15 G T 17: 26,179,742 (GRCm39) Q807K probably benign Het
Clec12a T C 6: 129,331,493 (GRCm39) Y145H probably damaging Het
Clk1 T C 1: 58,452,146 (GRCm39) I393V probably benign Het
Cpm A G 10: 117,503,956 (GRCm39) I121V probably benign Het
Cux1 A G 5: 136,279,448 (GRCm39) I405T possibly damaging Het
Dnah3 A G 7: 119,549,874 (GRCm39) S3471P probably damaging Het
Dok6 A G 18: 89,491,971 (GRCm39) probably benign Het
Eif4g1 A T 16: 20,504,684 (GRCm39) D1124V possibly damaging Het
Eif4g3 A G 4: 137,933,443 (GRCm39) E1756G probably damaging Het
Exo5 A G 4: 120,779,748 (GRCm39) V39A probably benign Het
Fmnl1 A T 11: 103,088,520 (GRCm39) I90F probably damaging Het
Fryl G T 5: 73,238,396 (GRCm39) T1450K probably damaging Het
Gde1 T C 7: 118,293,751 (GRCm39) M91V probably benign Het
Gimd1 T C 3: 132,350,343 (GRCm39) I84T probably damaging Het
Gm13889 C T 2: 93,787,453 (GRCm39) probably benign Het
Gm6445 T A 19: 9,585,561 (GRCm39) noncoding transcript Het
Gm8113 T C 14: 44,169,867 (GRCm39) S483P probably damaging Het
Grik2 T C 10: 49,399,888 (GRCm39) I281V possibly damaging Het
Grik5 T C 7: 24,760,152 (GRCm39) probably benign Het
Herc1 A T 9: 66,386,773 (GRCm39) I3796F possibly damaging Het
Hoxb13 A T 11: 96,085,309 (GRCm39) D14V probably benign Het
Hspg2 A G 4: 137,261,041 (GRCm39) Y1645C probably damaging Het
Igkv8-16 G T 6: 70,363,762 (GRCm39) R87S probably damaging Het
Ints1 A T 5: 139,760,054 (GRCm39) V140E possibly damaging Het
Kbtbd11 C A 8: 15,078,917 (GRCm39) D505E possibly damaging Het
Kcnu1 G A 8: 26,427,583 (GRCm39) C300Y probably damaging Het
Kmt2d G C 15: 98,750,410 (GRCm39) probably benign Het
Lats1 T C 10: 7,578,493 (GRCm39) V539A probably benign Het
Lipo5 C T 19: 33,441,922 (GRCm39) G200D unknown Het
Lmo7 C A 14: 102,124,393 (GRCm39) A284D probably damaging Het
Lyst G A 13: 13,809,968 (GRCm39) R546H probably damaging Het
Mcpt8 T C 14: 56,321,285 (GRCm39) M60V possibly damaging Het
Mdn1 A G 4: 32,730,749 (GRCm39) probably null Het
Mphosph10 A G 7: 64,038,722 (GRCm39) probably null Het
Muc5b G A 7: 141,395,135 (GRCm39) S47N unknown Het
Notch3 A T 17: 32,373,737 (GRCm39) N490K probably damaging Het
Nr1d1 G A 11: 98,662,738 (GRCm39) S85L possibly damaging Het
Obscn T A 11: 58,945,114 (GRCm39) R4635* probably null Het
Or10al5 G T 17: 38,063,054 (GRCm39) C103F probably damaging Het
Or13f5 T C 4: 52,826,240 (GRCm39) L281P probably damaging Het
Or9i16 T C 19: 13,864,912 (GRCm39) I221V probably benign Het
Pappa G A 4: 65,233,033 (GRCm39) probably null Het
Pde1a TCC TC 2: 79,728,525 (GRCm39) probably benign Het
Phf3 A T 1: 30,902,169 (GRCm39) M48K probably damaging Het
Pira2 A T 7: 3,843,933 (GRCm39) V613E probably damaging Het
Poc1a T C 9: 106,226,887 (GRCm39) S327P possibly damaging Het
Ptpn9 A G 9: 56,927,321 (GRCm39) H66R probably benign Het
Rabgap1 C T 2: 37,377,561 (GRCm39) R353* probably null Het
Rcc1l G T 5: 134,200,729 (GRCm39) N134K probably damaging Het
Rims1 G A 1: 22,497,793 (GRCm39) T787I probably damaging Het
Rreb1 T G 13: 38,132,777 (GRCm39) S1651A probably damaging Het
Rsl1d1 T C 16: 11,019,238 (GRCm39) D100G probably damaging Het
Samd4 C T 14: 47,301,703 (GRCm39) R147C probably damaging Het
Serpinb6e T C 13: 34,025,299 (GRCm39) probably benign Het
Ska1 T C 18: 74,330,111 (GRCm39) I210V probably benign Het
Slc17a1 A G 13: 24,062,543 (GRCm39) I237V probably benign Het
Slc22a4 A T 11: 53,888,336 (GRCm39) S231T probably benign Het
Slc7a4 T A 16: 17,393,797 (GRCm39) M66L probably damaging Het
Snapc1 A G 12: 74,030,642 (GRCm39) T381A possibly damaging Het
St6galnac2 C T 11: 116,575,351 (GRCm39) probably benign Het
Taar2 C T 10: 23,817,401 (GRCm39) L314F probably benign Het
Tmem74b A G 2: 151,548,561 (GRCm39) D96G probably damaging Het
Tnfrsf17 T C 16: 11,131,833 (GRCm39) F6S probably benign Het
Tpp2 G T 1: 43,993,870 (GRCm39) G252W probably damaging Het
Trf A G 9: 103,100,807 (GRCm39) F209L probably damaging Het
Ttn T C 2: 76,728,935 (GRCm39) probably benign Het
Uhmk1 A T 1: 170,034,774 (GRCm39) H311Q probably damaging Het
Unc13c G T 9: 73,840,108 (GRCm39) Q248K probably damaging Het
Uqcrc2 A G 7: 120,250,144 (GRCm39) Y253C probably damaging Het
Vmn2r117 A G 17: 23,697,390 (GRCm39) F101L probably benign Het
Vmn2r43 T C 7: 8,258,070 (GRCm39) N381S probably benign Het
Zfp879 T A 11: 50,724,024 (GRCm39) Y271F probably damaging Het
Other mutations in Pcdhb17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00950:Pcdhb17 APN 18 37,619,059 (GRCm39) splice site probably null
IGL01367:Pcdhb17 APN 18 37,620,548 (GRCm39) missense probably benign 0.01
IGL01923:Pcdhb17 APN 18 37,619,790 (GRCm39) missense probably benign 0.43
IGL02060:Pcdhb17 APN 18 37,619,469 (GRCm39) missense probably damaging 1.00
IGL02494:Pcdhb17 APN 18 37,618,347 (GRCm39) missense possibly damaging 0.73
IGL02654:Pcdhb17 APN 18 37,619,614 (GRCm39) missense probably benign 0.03
IGL03168:Pcdhb17 APN 18 37,618,825 (GRCm39) missense probably benign 0.15
doughnut UTSW 18 37,619,989 (GRCm39) missense probably damaging 1.00
miniscule UTSW 18 37,618,720 (GRCm39) missense probably damaging 1.00
PIT4434001:Pcdhb17 UTSW 18 37,618,704 (GRCm39) missense probably damaging 1.00
R0364:Pcdhb17 UTSW 18 37,618,888 (GRCm39) missense possibly damaging 0.95
R1013:Pcdhb17 UTSW 18 37,619,020 (GRCm39) missense probably damaging 1.00
R1052:Pcdhb17 UTSW 18 37,619,899 (GRCm39) missense probably damaging 1.00
R1226:Pcdhb17 UTSW 18 37,620,313 (GRCm39) missense probably damaging 1.00
R1258:Pcdhb17 UTSW 18 37,618,587 (GRCm39) missense probably damaging 0.98
R1335:Pcdhb17 UTSW 18 37,619,287 (GRCm39) missense probably damaging 1.00
R1443:Pcdhb17 UTSW 18 37,619,701 (GRCm39) missense probably benign 0.15
R1451:Pcdhb17 UTSW 18 37,619,989 (GRCm39) missense probably damaging 1.00
R1505:Pcdhb17 UTSW 18 37,619,875 (GRCm39) missense probably damaging 1.00
R1591:Pcdhb17 UTSW 18 37,618,878 (GRCm39) missense probably damaging 1.00
R1742:Pcdhb17 UTSW 18 37,619,629 (GRCm39) missense probably damaging 0.99
R1750:Pcdhb17 UTSW 18 37,620,070 (GRCm39) missense possibly damaging 0.81
R1750:Pcdhb17 UTSW 18 37,618,764 (GRCm39) missense probably damaging 1.00
R1764:Pcdhb17 UTSW 18 37,620,324 (GRCm39) missense probably damaging 1.00
R1863:Pcdhb17 UTSW 18 37,619,164 (GRCm39) missense probably benign 0.00
R1888:Pcdhb17 UTSW 18 37,620,438 (GRCm39) splice site probably null
R1888:Pcdhb17 UTSW 18 37,620,438 (GRCm39) splice site probably null
R2095:Pcdhb17 UTSW 18 37,619,375 (GRCm39) missense probably benign 0.14
R4565:Pcdhb17 UTSW 18 37,619,523 (GRCm39) missense probably benign 0.14
R4669:Pcdhb17 UTSW 18 37,619,259 (GRCm39) missense probably damaging 0.99
R4816:Pcdhb17 UTSW 18 37,620,450 (GRCm39) missense probably benign 0.39
R4910:Pcdhb17 UTSW 18 37,618,212 (GRCm39) start codon destroyed possibly damaging 0.90
R5209:Pcdhb17 UTSW 18 37,620,514 (GRCm39) missense probably damaging 1.00
R5248:Pcdhb17 UTSW 18 37,618,939 (GRCm39) missense probably benign 0.00
R5254:Pcdhb17 UTSW 18 37,619,878 (GRCm39) missense probably damaging 1.00
R5494:Pcdhb17 UTSW 18 37,620,300 (GRCm39) missense probably damaging 1.00
R5544:Pcdhb17 UTSW 18 37,620,474 (GRCm39) missense possibly damaging 0.61
R5952:Pcdhb17 UTSW 18 37,620,133 (GRCm39) missense probably benign 0.04
R5977:Pcdhb17 UTSW 18 37,618,720 (GRCm39) missense probably damaging 1.00
R6262:Pcdhb17 UTSW 18 37,619,751 (GRCm39) missense probably damaging 1.00
R6311:Pcdhb17 UTSW 18 37,619,316 (GRCm39) splice site probably null
R6495:Pcdhb17 UTSW 18 37,618,720 (GRCm39) missense probably damaging 1.00
R6710:Pcdhb17 UTSW 18 37,618,452 (GRCm39) missense probably damaging 0.96
R7097:Pcdhb17 UTSW 18 37,619,566 (GRCm39) missense probably benign
R7122:Pcdhb17 UTSW 18 37,619,566 (GRCm39) missense probably benign
R7130:Pcdhb17 UTSW 18 37,618,498 (GRCm39) missense probably damaging 1.00
R7437:Pcdhb17 UTSW 18 37,619,145 (GRCm39) missense probably benign 0.01
R7642:Pcdhb17 UTSW 18 37,618,779 (GRCm39) missense probably damaging 1.00
R7703:Pcdhb17 UTSW 18 37,619,801 (GRCm39) missense probably benign 0.01
R7771:Pcdhb17 UTSW 18 37,619,962 (GRCm39) missense possibly damaging 0.95
R7898:Pcdhb17 UTSW 18 37,618,233 (GRCm39) missense probably benign 0.00
R8028:Pcdhb17 UTSW 18 37,620,502 (GRCm39) missense probably benign 0.03
R8299:Pcdhb17 UTSW 18 37,618,408 (GRCm39) missense probably damaging 0.98
R8560:Pcdhb17 UTSW 18 37,619,206 (GRCm39) missense possibly damaging 0.92
R8844:Pcdhb17 UTSW 18 37,618,801 (GRCm39) missense probably benign 0.12
R8925:Pcdhb17 UTSW 18 37,620,372 (GRCm39) missense probably benign 0.40
R8927:Pcdhb17 UTSW 18 37,620,372 (GRCm39) missense probably benign 0.40
R9050:Pcdhb17 UTSW 18 37,620,286 (GRCm39) missense probably damaging 1.00
R9162:Pcdhb17 UTSW 18 37,620,168 (GRCm39) missense probably damaging 0.97
R9243:Pcdhb17 UTSW 18 37,619,989 (GRCm39) missense probably damaging 1.00
R9286:Pcdhb17 UTSW 18 37,619,422 (GRCm39) missense probably benign 0.26
R9472:Pcdhb17 UTSW 18 37,618,919 (GRCm39) missense probably damaging 1.00
R9617:Pcdhb17 UTSW 18 37,618,218 (GRCm39) missense probably benign
R9625:Pcdhb17 UTSW 18 37,619,419 (GRCm39) nonsense probably null
R9646:Pcdhb17 UTSW 18 37,618,471 (GRCm39) missense possibly damaging 0.64
X0062:Pcdhb17 UTSW 18 37,619,542 (GRCm39) missense probably benign
X0064:Pcdhb17 UTSW 18 37,619,484 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCAAGAGAGCACTTGACAGG -3'
(R):5'- GAGCCTTGGTCTATTGCACC -3'

Sequencing Primer
(F):5'- CATCACTGTCTCTGACCTGGG -3'
(R):5'- TGGTCTATTGCACCCACGTGG -3'
Posted On 2015-10-08