Incidental Mutation 'R9617:Pcdhb17'
ID 726554
Institutional Source Beutler Lab
Gene Symbol Pcdhb17
Ensembl Gene ENSMUSG00000046387
Gene Name protocadherin beta 17
Synonyms Pcdhb16, PcdhbQ
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R9617 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 37618040-37621345 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 37618218 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 3 (T3A)
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 benign
Transcript: ENSMUST00000053856
AA Change: T3A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000055072
Gene: ENSMUSG00000046387
AA Change: T3A

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110032F04Rik C T 3: 68,777,402 (GRCm39) P121L probably damaging Het
4930442H23Rik C T 10: 81,018,976 (GRCm39) V16I unknown Het
4930444P10Rik T C 1: 16,139,051 (GRCm39) M97V probably benign Het
Abcb1a A T 5: 8,797,353 (GRCm39) probably null Het
Abhd5 T C 9: 122,197,035 (GRCm39) I74T probably benign Het
Ankle2 T A 5: 110,399,409 (GRCm39) F590I probably damaging Het
C2cd6 T C 1: 59,097,848 (GRCm39) S414G probably benign Het
Catsperd G A 17: 56,968,252 (GRCm39) D546N probably benign Het
Cep295nl G T 11: 118,224,000 (GRCm39) H281Q possibly damaging Het
Cfap69 T C 5: 5,639,164 (GRCm39) E670G probably damaging Het
Cfh A T 1: 140,090,718 (GRCm39) V90E possibly damaging Het
Cnksr3 A C 10: 7,079,021 (GRCm39) probably null Het
Cntrl T A 2: 35,035,077 (GRCm39) F901L probably benign Het
Coch T A 12: 51,645,034 (GRCm39) M196K probably damaging Het
Crygd T C 1: 65,102,369 (GRCm39) N34S probably damaging Het
Ctdp1 A T 18: 80,492,962 (GRCm39) I511N probably benign Het
Dhx30 C T 9: 109,926,186 (GRCm39) A142T probably damaging Het
Dlg2 T C 7: 92,087,284 (GRCm39) probably null Het
Dmxl1 A G 18: 49,998,228 (GRCm39) D776G probably damaging Het
Dnm3 C T 1: 162,149,354 (GRCm39) G197D probably damaging Het
Eif4g3 A G 4: 137,824,190 (GRCm39) H91R probably damaging Het
Ephb6 A G 6: 41,596,258 (GRCm39) M844V probably damaging Het
Erc1 T C 6: 119,773,902 (GRCm39) E351G probably benign Het
Etfbkmt G A 6: 149,045,744 (GRCm39) G33R probably benign Het
Fnbp4 T C 2: 90,588,738 (GRCm39) I503T probably benign Het
Gm6370 A T 5: 146,429,993 (GRCm39) Q143L probably benign Het
Gnas T C 2: 174,141,988 (GRCm39) V719A possibly damaging Het
H13 C A 2: 152,530,873 (GRCm39) D219E probably damaging Het
Hhatl G A 9: 121,618,191 (GRCm39) T188I possibly damaging Het
Ifi27l2b C T 12: 103,422,683 (GRCm39) A45T probably damaging Het
Kbtbd8 T C 6: 95,103,874 (GRCm39) C585R possibly damaging Het
Limk2 A G 11: 3,297,715 (GRCm39) S473P probably damaging Het
Lrba G A 3: 86,267,169 (GRCm39) G1620S probably benign Het
Lrrtm2 T C 18: 35,346,490 (GRCm39) T271A probably benign Het
Map3k4 A G 17: 12,476,871 (GRCm39) S759P possibly damaging Het
Mybphl G T 3: 108,282,952 (GRCm39) V247F possibly damaging Het
Myh10 T A 11: 68,682,815 (GRCm39) V1120D probably benign Het
Naip1 T C 13: 100,569,821 (GRCm39) N271S probably benign Het
Napepld C T 5: 21,875,561 (GRCm39) V328I probably damaging Het
Nucb1 A G 7: 45,148,159 (GRCm39) V218A probably benign Het
Nup107 A T 10: 117,593,238 (GRCm39) D813E probably benign Het
Or14j3 T A 17: 37,901,053 (GRCm39) K64* probably null Het
Or5g29 T A 2: 85,421,279 (GRCm39) Y132N probably damaging Het
Or6c35 A T 10: 129,168,794 (GRCm39) T15S probably damaging Het
Or8g52 A G 9: 39,630,678 (GRCm39) S52G possibly damaging Het
Pabpc2 T C 18: 39,907,602 (GRCm39) I289T probably benign Het
Parg A G 14: 31,960,569 (GRCm39) I600V probably benign Het
Patj T C 4: 98,393,991 (GRCm39) F975L probably benign Het
Piezo2 T C 18: 63,248,108 (GRCm39) E464G probably benign Het
Pkd1 T A 17: 24,800,341 (GRCm39) V3034D probably damaging Het
Pld2 A G 11: 70,447,944 (GRCm39) E869G probably damaging Het
Plek T A 11: 16,945,311 (GRCm39) L29F possibly damaging Het
Prelp A G 1: 133,842,416 (GRCm39) L243P probably damaging Het
Rapgef5 T A 12: 117,621,930 (GRCm39) D231E probably benign Het
Riok1 A G 13: 38,244,016 (GRCm39) E514G probably benign Het
Rmdn2 T C 17: 79,928,790 (GRCm39) M14T probably benign Het
Rorb G A 19: 18,939,499 (GRCm39) Q228* probably null Het
Scmh1 T A 4: 120,340,827 (GRCm39) M171K probably damaging Het
Scn9a A G 2: 66,392,809 (GRCm39) L261P probably damaging Het
Senp7 A T 16: 55,971,652 (GRCm39) N263I probably benign Het
Slc11a1 G T 1: 74,419,041 (GRCm39) A162S probably benign Het
Slc6a17 A G 3: 107,384,685 (GRCm39) V305A probably damaging Het
Snph A T 2: 151,435,422 (GRCm39) V502E probably damaging Het
Sost G T 11: 101,854,892 (GRCm39) A139E possibly damaging Het
Srp54a A T 12: 55,136,061 (GRCm39) E25D probably benign Het
Tmeff1 T A 4: 48,636,940 (GRCm39) C213S probably damaging Het
Tmem232 A T 17: 65,807,180 (GRCm39) Y4* probably null Het
Tmem63c T G 12: 87,103,361 (GRCm39) I45S probably benign Het
Ttbk1 C T 17: 46,757,998 (GRCm39) G879S probably damaging Het
Ugt1a7c A G 1: 88,022,952 (GRCm39) H37R probably damaging Het
Vmn1r236 T C 17: 21,507,053 (GRCm39) L57P probably damaging Het
Wnk2 T A 13: 49,192,453 (GRCm39) E675V unknown Het
Wnt10b T C 15: 98,674,609 (GRCm39) T43A probably damaging Het
Wnt8a C A 18: 34,680,163 (GRCm39) T176K probably benign Het
Zfp937 T A 2: 150,080,452 (GRCm39) C161S 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
R4658:Pcdhb17 UTSW 18 37,619,652 (GRCm39) missense probably damaging 1.00
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
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'- AGACAGAGCATAGAAATTGCTTGTG -3'
(R):5'- TTGGATATCTCTGCCAGGTCC -3'

Sequencing Primer
(F):5'- GTTTCTCACCACCTAGAATCAAAGGG -3'
(R):5'- AGGTCCACCCCCAGATCTTTC -3'
Posted On 2022-10-06