Incidental Mutation 'R4166:Pcdhb19'
ID 320608
Institutional Source Beutler Lab
Gene Symbol Pcdhb19
Ensembl Gene ENSMUSG00000043313
Gene Name protocadherin beta 19
Synonyms Pcdhb11, PcdhbS
MMRRC Submission 041639-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R4166 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 37630049-37637181 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 37632243 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 679 (N679K)
Ref Sequence ENSEMBL: ENSMUSP00000053326 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055949] [ENSMUST00000059571] [ENSMUST00000115661] [ENSMUST00000194544]
AlphaFold Q91Y01
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: ENSMUST00000059571
AA Change: N679K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000053326
Gene: ENSMUSG00000043313
AA Change: N679K

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
CA 45 131 4.8e-1 SMART
CA 155 240 6.58e-20 SMART
CA 264 345 1.03e-21 SMART
CA 368 449 4.21e-18 SMART
CA 473 559 3.36e-26 SMART
CA 589 670 6.69e-12 SMART
Pfam:Cadherin_C_2 686 769 1.9e-25 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 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.8%
Validation Efficiency 100% (56/56)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T C 14: 32,382,912 (GRCm39) T1018A possibly damaging Het
Aak1 T A 6: 86,827,044 (GRCm39) F4I probably damaging Het
Adamts8 G T 9: 30,862,684 (GRCm39) E296D probably benign Het
Ankrd35 T A 3: 96,586,471 (GRCm39) probably null Het
Arhgap20 G A 9: 51,738,135 (GRCm39) probably null Het
Bhmt T A 13: 93,762,007 (GRCm39) probably benign Het
Cacna1b C A 2: 24,567,923 (GRCm39) R1055L probably benign Het
Cdk5r1 A G 11: 80,369,035 (GRCm39) Y234C probably damaging Het
Cdx2 G T 5: 147,243,539 (GRCm39) A85D possibly damaging Het
Cenpe G A 3: 134,949,479 (GRCm39) G88D probably damaging Het
Cfap300 A T 9: 8,026,071 (GRCm39) L167Q probably damaging Het
Dennd5a A C 7: 109,526,032 (GRCm39) probably null Het
Erich6 G A 3: 58,526,229 (GRCm39) A591V probably damaging Het
Espl1 A G 15: 102,221,424 (GRCm39) I944V probably damaging Het
Fbln5 A G 12: 101,723,618 (GRCm39) V374A probably damaging Het
Fmn1 G A 2: 113,467,080 (GRCm39) S1327N probably benign Het
Fnip2 A T 3: 79,369,442 (GRCm39) V1081E probably damaging Het
Gm5174 A G 10: 86,492,797 (GRCm39) noncoding transcript Het
Gpaa1 A C 15: 76,216,667 (GRCm39) probably benign Het
Grina T A 15: 76,133,529 (GRCm39) L334Q probably damaging Het
Gulp1 T A 1: 44,747,829 (GRCm39) Y27* probably null Het
Kdm3b A T 18: 34,928,797 (GRCm39) I183F probably benign Het
Loxhd1 A T 18: 77,460,025 (GRCm39) I758F probably damaging Het
Msi2 T C 11: 88,237,914 (GRCm39) H346R probably benign Het
Naip6 T A 13: 100,452,657 (GRCm39) I135F probably benign Het
Npr3 T G 15: 11,848,599 (GRCm39) E202A probably benign Het
Nsun4 A T 4: 115,891,248 (GRCm39) L377Q probably damaging Het
Oog2 A C 4: 143,921,411 (GRCm39) H107P probably damaging Het
Or14c40 C A 7: 86,313,602 (GRCm39) T244N probably damaging Het
Otof A G 5: 30,539,762 (GRCm39) L1032P probably damaging Het
Pcdh9 T A 14: 94,124,956 (GRCm39) R405* probably null Het
Pigr G A 1: 130,769,554 (GRCm39) D122N probably benign Het
Prol1 A T 5: 88,476,530 (GRCm39) I307F unknown Het
Pycr1 T C 11: 120,532,949 (GRCm39) I104V probably benign Het
Ralgapa1 C T 12: 55,687,429 (GRCm39) R2019Q probably damaging Het
Rb1cc1 T C 1: 6,335,887 (GRCm39) probably benign Het
Skint11 C A 4: 114,101,856 (GRCm39) Q99K probably benign Het
Skint3 A G 4: 112,112,832 (GRCm39) I147M possibly damaging Het
Slc22a14 T G 9: 119,007,498 (GRCm39) M304L probably benign Het
Slc22a14 T C 9: 119,008,934 (GRCm39) N178S possibly damaging Het
Slc2a1 T G 4: 118,990,313 (GRCm39) I179S probably damaging Het
Slco2b1 G T 7: 99,309,333 (GRCm39) T666N probably benign Het
Smap1 T C 1: 23,887,506 (GRCm39) M258V probably benign Het
Smr3a A T 5: 88,156,013 (GRCm39) probably benign Het
Stt3b T A 9: 115,083,969 (GRCm39) E402D probably damaging Het
Sync T C 4: 129,200,535 (GRCm39) probably benign Het
Tbx20 T A 9: 24,681,040 (GRCm39) I151F probably damaging Het
Tomm22 C A 15: 79,555,206 (GRCm39) probably benign Het
Trank1 C A 9: 111,202,592 (GRCm39) Y1652* probably null Het
Trim34a T A 7: 103,910,223 (GRCm39) C342S probably benign Het
Txnl4a T A 18: 80,265,471 (GRCm39) M112K probably benign Het
Zfp146 A G 7: 29,861,865 (GRCm39) V59A possibly damaging Het
Other mutations in Pcdhb19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01374:Pcdhb19 APN 18 37,631,042 (GRCm39) missense probably damaging 1.00
IGL02070:Pcdhb19 APN 18 37,631,597 (GRCm39) missense probably damaging 1.00
IGL02348:Pcdhb19 APN 18 37,631,861 (GRCm39) missense probably damaging 1.00
IGL02866:Pcdhb19 APN 18 37,632,163 (GRCm39) missense possibly damaging 0.91
IGL02869:Pcdhb19 APN 18 37,631,690 (GRCm39) missense probably damaging 0.98
IGL03118:Pcdhb19 APN 18 37,632,618 (GRCm39) intron probably benign
IGL03120:Pcdhb19 APN 18 37,631,209 (GRCm39) missense probably benign 0.09
IGL03135:Pcdhb19 APN 18 37,631,588 (GRCm39) missense probably benign 0.37
IGL03366:Pcdhb19 APN 18 37,631,665 (GRCm39) missense possibly damaging 0.95
R0147:Pcdhb19 UTSW 18 37,630,235 (GRCm39) missense probably benign 0.01
R0148:Pcdhb19 UTSW 18 37,630,235 (GRCm39) missense probably benign 0.01
R0432:Pcdhb19 UTSW 18 37,632,588 (GRCm39) missense probably benign 0.01
R0609:Pcdhb19 UTSW 18 37,631,005 (GRCm39) missense probably benign
R1438:Pcdhb19 UTSW 18 37,631,015 (GRCm39) missense probably damaging 1.00
R2255:Pcdhb19 UTSW 18 37,630,997 (GRCm39) missense probably benign 0.00
R2265:Pcdhb19 UTSW 18 37,630,736 (GRCm39) missense probably damaging 0.99
R3500:Pcdhb19 UTSW 18 37,630,532 (GRCm39) nonsense probably null
R3708:Pcdhb19 UTSW 18 37,630,442 (GRCm39) missense probably benign 0.04
R4165:Pcdhb19 UTSW 18 37,632,243 (GRCm39) missense probably benign
R4863:Pcdhb19 UTSW 18 37,632,161 (GRCm39) missense probably benign 0.00
R5217:Pcdhb19 UTSW 18 37,630,939 (GRCm39) missense probably benign 0.00
R5770:Pcdhb19 UTSW 18 37,631,090 (GRCm39) missense possibly damaging 0.73
R6031:Pcdhb19 UTSW 18 37,630,776 (GRCm39) missense probably damaging 1.00
R6031:Pcdhb19 UTSW 18 37,630,776 (GRCm39) missense probably damaging 1.00
R6372:Pcdhb19 UTSW 18 37,630,419 (GRCm39) missense probably benign 0.04
R6454:Pcdhb19 UTSW 18 37,632,322 (GRCm39) missense probably benign 0.43
R6985:Pcdhb19 UTSW 18 37,630,211 (GRCm39) missense probably benign 0.00
R7658:Pcdhb19 UTSW 18 37,632,034 (GRCm39) missense probably damaging 0.99
R7662:Pcdhb19 UTSW 18 37,631,788 (GRCm39) missense probably damaging 0.98
R7910:Pcdhb19 UTSW 18 37,630,720 (GRCm39) missense probably benign 0.43
R8041:Pcdhb19 UTSW 18 37,630,367 (GRCm39) missense possibly damaging 0.87
R8318:Pcdhb19 UTSW 18 37,630,999 (GRCm39) missense possibly damaging 0.86
R8989:Pcdhb19 UTSW 18 37,631,476 (GRCm39) missense probably benign 0.04
R9053:Pcdhb19 UTSW 18 37,631,143 (GRCm39) missense probably benign 0.01
R9164:Pcdhb19 UTSW 18 37,631,852 (GRCm39) missense probably damaging 1.00
R9197:Pcdhb19 UTSW 18 37,631,354 (GRCm39) missense probably damaging 1.00
R9309:Pcdhb19 UTSW 18 37,631,858 (GRCm39) missense probably damaging 1.00
R9377:Pcdhb19 UTSW 18 37,632,299 (GRCm39) missense probably damaging 1.00
R9402:Pcdhb19 UTSW 18 37,632,532 (GRCm39) nonsense probably null
R9432:Pcdhb19 UTSW 18 37,630,628 (GRCm39) missense possibly damaging 0.91
R9553:Pcdhb19 UTSW 18 37,631,848 (GRCm39) missense probably damaging 1.00
X0062:Pcdhb19 UTSW 18 37,630,228 (GRCm39) missense probably benign
Z1177:Pcdhb19 UTSW 18 37,631,498 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGCTGCTCAAGGCTACAGAG -3'
(R):5'- GCACTGTTAATGCCCATGAG -3'

Sequencing Primer
(F):5'- CACACAATGGCGAGGTGC -3'
(R):5'- CCATGAGATGGTCAGGAAAGTGTC -3'
Posted On 2015-06-12