Incidental Mutation 'R0148:Pcdhb19'
ID 60893
Institutional Source Beutler Lab
Gene Symbol Pcdhb19
Ensembl Gene ENSMUSG00000043313
Gene Name protocadherin beta 19
Synonyms Pcdhb11, PcdhbS
MMRRC Submission 038432-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R0148 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 37630049-37637181 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 37630235 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 10 (Q10L)
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: Q10L

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000053326
Gene: ENSMUSG00000043313
AA Change: Q10L

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 0.1346 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 96.0%
  • 20x: 91.8%
Validation Efficiency 86% (30/35)
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T C 6: 121,639,405 (GRCm39) probably null Het
Agtr1a T C 13: 30,565,927 (GRCm39) S331P probably benign Het
Ank1 T A 8: 23,613,993 (GRCm39) N1545K probably damaging Het
Bahcc1 A T 11: 120,159,230 (GRCm39) Q152H probably damaging Het
Bend3 T A 10: 43,387,946 (GRCm39) Y780N probably damaging Het
Bod1l G T 5: 41,976,040 (GRCm39) A1758E possibly damaging Het
Ctcfl T C 2: 172,960,340 (GRCm39) D81G possibly damaging Het
Ddx39a C T 8: 84,449,105 (GRCm39) R298C possibly damaging Het
Dock8 T C 19: 25,096,823 (GRCm39) L577P probably benign Het
Drc1 A T 5: 30,486,487 (GRCm39) N13I possibly damaging Het
Efl1 T C 7: 82,320,878 (GRCm39) S104P probably damaging Het
Eml4 T A 17: 83,729,081 (GRCm39) N85K probably damaging Het
Epb41l4a T C 18: 33,931,853 (GRCm39) T581A probably damaging Het
Epha3 T C 16: 63,433,307 (GRCm39) D446G possibly damaging Het
Fam209 G T 2: 172,315,900 (GRCm39) G92C probably damaging Het
Fbln1 G A 15: 85,115,027 (GRCm39) R193H probably damaging Het
Fbxw21 A G 9: 108,977,085 (GRCm39) probably null Het
Fgf17 C T 14: 70,876,313 (GRCm39) R49Q probably damaging Het
Flnb T C 14: 7,939,077 (GRCm38) S2307P probably benign Het
Galr1 A G 18: 82,423,695 (GRCm39) L194P probably benign Het
Gar1 T C 3: 129,623,122 (GRCm39) H89R probably damaging Het
Gbp4 T A 5: 105,267,362 (GRCm39) Y519F probably benign Het
Git1 A G 11: 77,396,554 (GRCm39) T601A probably benign Het
Gm10722 T "C,A" 9: 3,001,405 (GRCm39) probably null Het
Gm5142 C T 14: 59,416,119 (GRCm39) R13H possibly damaging Het
Gria2 A C 3: 80,615,038 (GRCm39) W481G probably damaging Het
Homer2 T C 7: 81,274,026 (GRCm39) T57A probably benign Het
Hpse2 A C 19: 42,920,099 (GRCm39) probably null Het
Hspb7 T C 4: 141,151,302 (GRCm39) I148T probably damaging Het
Htr1d C A 4: 136,170,788 (GRCm39) T339K probably damaging Het
Il4ra T A 7: 125,174,709 (GRCm39) C306S probably damaging Het
Kansl3 A T 1: 36,392,897 (GRCm39) C225S probably damaging Het
Lama3 G A 18: 12,581,329 (GRCm39) C596Y probably damaging Het
Lama5 T C 2: 179,832,199 (GRCm39) H1714R probably benign Het
Marchf6 C T 15: 31,490,758 (GRCm39) V293M probably damaging Het
Med12l A G 3: 58,945,075 (GRCm39) D100G probably damaging Het
Mettl14 G A 3: 123,165,043 (GRCm39) T316I probably damaging Het
Mmp15 A T 8: 96,098,945 (GRCm39) N591Y probably benign Het
Mrpl53 T C 6: 83,086,518 (GRCm39) L74P probably damaging Het
Mvp C T 7: 126,589,037 (GRCm39) V577M probably damaging Het
Neb T C 2: 52,139,388 (GRCm39) K140E probably damaging Het
Nfya A G 17: 48,706,026 (GRCm39) V48A possibly damaging Het
Ngf G T 3: 102,417,119 (GRCm39) probably benign Het
Nipsnap3b C T 4: 53,017,088 (GRCm39) A104V possibly damaging Het
Nlrp14 A G 7: 106,781,928 (GRCm39) Y375C probably benign Het
Nod1 A G 6: 54,915,202 (GRCm39) Y764H probably damaging Het
Or13d1 A T 4: 52,971,232 (GRCm39) I204F probably benign Het
Or2w25 G A 11: 59,504,320 (GRCm39) V177M probably damaging Het
Or7e177 T G 9: 20,212,387 (GRCm39) M297R probably damaging Het
Pdcl T C 2: 37,242,142 (GRCm39) I203V probably benign Het
Peg10 C A 6: 4,755,711 (GRCm39) R96S possibly damaging Het
Pknox1 T A 17: 31,823,764 (GRCm39) N379K probably benign Het
Prodh T G 16: 17,895,677 (GRCm39) Q360P probably damaging Het
Raf1 C T 6: 115,609,934 (GRCm39) G202S probably benign Het
Rgs11 T A 17: 26,426,433 (GRCm39) probably null Het
Rilp A T 11: 75,401,059 (GRCm39) H29L probably damaging Het
Rtel1 T C 2: 180,962,839 (GRCm39) C31R probably damaging Het
Rubcnl T A 14: 75,279,898 (GRCm39) I427K probably damaging Het
Ryr1 C A 7: 28,751,460 (GRCm39) R3706L probably damaging Het
Ryr2 T C 13: 11,729,434 (GRCm39) D2396G probably damaging Het
Slc45a2 T C 15: 11,025,954 (GRCm39) S435P probably damaging Het
Spata17 A G 1: 186,844,798 (GRCm39) V111A probably damaging Het
Svep1 C T 4: 58,116,608 (GRCm39) D881N possibly damaging Het
Sypl2 T A 3: 108,126,411 (GRCm39) N67I possibly damaging Het
Tenm3 T C 8: 48,689,755 (GRCm39) Y1944C probably damaging Het
Tep1 A T 14: 51,062,246 (GRCm39) D2535E possibly damaging Het
Tkt T A 14: 30,294,177 (GRCm39) I529N probably damaging Het
Trp53i11 T G 2: 93,028,080 (GRCm39) V39G probably damaging Het
Trpm2 C T 10: 77,761,659 (GRCm39) G997D probably damaging Het
Usp3 A G 9: 66,447,449 (GRCm39) V219A possibly damaging Het
Usp4 T A 9: 108,268,870 (GRCm39) probably null Het
Wdfy3 A G 5: 102,065,277 (GRCm39) V1297A probably benign Het
Wdr46 T A 17: 34,159,997 (GRCm39) F70I probably benign Het
Xkr6 T C 14: 64,056,998 (GRCm39) V303A unknown Het
Zdbf2 C T 1: 63,343,165 (GRCm39) Q515* probably null Het
Zfhx2 A G 14: 55,310,354 (GRCm39) Y731H 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
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
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'- ACCTGTGAAGACACATGGTGGC -3'
(R):5'- CCAGCGGTTCACTAAGGAGCAAATC -3'

Sequencing Primer
(F):5'- GGAATTACATTAAATGCCGCAGAC -3'
(R):5'- TTATCACTAGAGGCCACTTGAGC -3'
Posted On 2013-07-24