Incidental Mutation 'R3500:Pcdhb19'
ID 273782
Institutional Source Beutler Lab
Gene Symbol Pcdhb19
Ensembl Gene ENSMUSG00000043313
Gene Name protocadherin beta 19
Synonyms Pcdhb11, PcdhbS
MMRRC Submission 040663-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R3500 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 37630049-37637181 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 37630532 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 109 (L109*)
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 null
Transcript: ENSMUST00000059571
AA Change: L109*
SMART Domains Protein: ENSMUSP00000053326
Gene: ENSMUSG00000043313
AA Change: L109*

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 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.7%
  • 20x: 96.2%
Validation Efficiency 98% (53/54)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amhr2 A G 15: 102,355,501 (GRCm39) D188G probably benign Het
Arl15 G A 13: 114,104,228 (GRCm39) E102K probably damaging Het
Atp10d C T 5: 72,403,066 (GRCm39) R319C probably damaging Het
Cetn4 A T 3: 37,364,109 (GRCm39) F34I probably benign Het
Chd8 G T 14: 52,443,110 (GRCm39) H510N probably benign Het
Chil5 T C 3: 105,925,536 (GRCm39) D157G probably damaging Het
Clcn1 T C 6: 42,269,929 (GRCm39) S251P probably damaging Het
Clstn3 A T 6: 124,408,670 (GRCm39) C881S probably benign Het
Cnot4 G A 6: 35,057,076 (GRCm39) probably benign Het
Copg1 G A 6: 87,872,905 (GRCm39) probably benign Het
Czib C T 4: 107,748,710 (GRCm39) R83W probably damaging Het
Eftud2 A G 11: 102,735,006 (GRCm39) M631T probably damaging Het
Elavl3 A G 9: 21,930,040 (GRCm39) V288A probably damaging Het
Fancb A G X: 163,779,104 (GRCm39) T721A probably damaging Het
Fat2 A G 11: 55,151,342 (GRCm39) F3800S probably damaging Het
Fgd2 T C 17: 29,584,575 (GRCm39) V173A possibly damaging Het
Gabrr1 T C 4: 33,158,184 (GRCm39) probably benign Het
Gata4 C T 14: 63,437,982 (GRCm39) G390S possibly damaging Het
Gm9396 C A 3: 129,862,144 (GRCm39) noncoding transcript Het
Grid2 T C 6: 63,480,383 (GRCm39) S66P probably damaging Het
Hdac9 C A 12: 34,487,352 (GRCm39) M16I probably benign Het
Kmt2c A T 5: 25,504,477 (GRCm39) D3610E probably benign Het
Lactb2 A T 1: 13,730,673 (GRCm39) M1K probably null Het
Ldhb T C 6: 142,447,173 (GRCm39) D47G probably damaging Het
Map3k11 A T 19: 5,740,275 (GRCm39) M1L probably benign Het
Mecom C T 3: 30,035,061 (GRCm39) R205H probably damaging Het
Mob1b A G 5: 88,897,479 (GRCm39) D129G probably benign Het
Nbea A G 3: 55,588,431 (GRCm39) V2436A possibly damaging Het
Neb T C 2: 52,215,797 (GRCm39) N170S probably damaging Het
Nedd4l G A 18: 65,345,931 (GRCm39) A848T probably damaging Het
Nr5a1 G A 2: 38,597,952 (GRCm39) R282* probably null Het
Or4c102 A G 2: 88,422,285 (GRCm39) T46A probably damaging Het
Or4c119 C T 2: 88,987,403 (GRCm39) G39R probably damaging Het
Or4d10c A G 19: 12,065,421 (GRCm39) V245A possibly damaging Het
Or4f47 T C 2: 111,972,472 (GRCm39) F61L possibly damaging Het
Or52e2 T C 7: 102,804,297 (GRCm39) Y219C probably damaging Het
Plcg2 A G 8: 118,339,717 (GRCm39) M1043V probably benign Het
Podxl2 T C 6: 88,819,900 (GRCm39) D554G probably damaging Het
Ppp3ca A G 3: 136,587,273 (GRCm39) T252A probably benign Het
Pramel6 A G 2: 87,339,569 (GRCm39) H111R probably damaging Het
Prr19 A G 7: 25,002,692 (GRCm39) E130G probably damaging Het
Rab44 C T 17: 29,357,041 (GRCm39) A57V probably benign Het
Rhbdl3 T C 11: 80,210,531 (GRCm39) F95L probably damaging Het
Sdk1 G T 5: 141,992,371 (GRCm39) probably benign Het
Tas2r122 T A 6: 132,688,523 (GRCm39) K123N probably damaging Het
Tbpl2 C T 2: 23,977,151 (GRCm39) R289Q probably benign Het
Trpm2 A G 10: 77,768,136 (GRCm39) F788L probably benign Het
Ttn G A 2: 76,560,628 (GRCm39) L29258F probably damaging Het
Ttn G T 2: 76,591,509 (GRCm39) F19307L possibly damaging Het
Vmn2r23 T C 6: 123,690,129 (GRCm39) I335T 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
R3708:Pcdhb19 UTSW 18 37,630,442 (GRCm39) missense probably benign 0.04
R4165:Pcdhb19 UTSW 18 37,632,243 (GRCm39) missense probably benign
R4166: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'- AAATGCTGAGTGGGGCCTTG -3'
(R):5'- CGTGGAAATGAGAGTTCTGGC -3'

Sequencing Primer
(F):5'- CCTTGGTAGGGAATTTGGTAAAGGAC -3'
(R):5'- AAATGAGAGTTCTGGCTTATCTCG -3'
Posted On 2015-04-02