Incidental Mutation 'R5187:Pcdh8'
ID 397981
Institutional Source Beutler Lab
Gene Symbol Pcdh8
Ensembl Gene ENSMUSG00000036422
Gene Name protocadherin 8
Synonyms Papc, 1700080P15Rik
MMRRC Submission 042766-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5187 (G1)
Quality Score 224
Status Not validated
Chromosome 14
Chromosomal Location 80004224-80008752 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 80007594 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 323 (D323G)
Ref Sequence ENSEMBL: ENSMUSP00000141417 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039568] [ENSMUST00000195355]
AlphaFold Q7TSK3
Predicted Effect probably damaging
Transcript: ENSMUST00000039568
AA Change: D323G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000045333
Gene: ENSMUSG00000036422
AA Change: D323G

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
CA 45 133 8.69e-2 SMART
CA 157 243 1.22e-14 SMART
CA 268 352 6.08e-24 SMART
low complexity region 360 392 N/A INTRINSIC
CA 414 495 5.34e-20 SMART
CA 519 607 1.57e-26 SMART
CA 636 718 1.12e-4 SMART
transmembrane domain 748 770 N/A INTRINSIC
low complexity region 782 802 N/A INTRINSIC
low complexity region 828 860 N/A INTRINSIC
low complexity region 910 933 N/A INTRINSIC
low complexity region 974 980 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193759
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194214
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194881
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195034
Predicted Effect probably damaging
Transcript: ENSMUST00000195355
AA Change: D323G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000141417
Gene: ENSMUSG00000036422
AA Change: D323G

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
CA 45 133 8.69e-2 SMART
CA 157 243 1.22e-14 SMART
CA 268 352 6.08e-24 SMART
low complexity region 360 392 N/A INTRINSIC
CA 414 495 5.34e-20 SMART
CA 519 607 1.57e-26 SMART
CA 636 718 1.12e-4 SMART
transmembrane domain 748 770 N/A INTRINSIC
low complexity region 813 836 N/A INTRINSIC
low complexity region 877 883 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency
MGI Phenotype FUNCTION: This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The gene encodes a type I transmembrane protein composed of an extracellular domain including 6 cadherin ectodomains, a single-pass transmembrane domain and a cytoplasmic tail. Unlike classical cadherins, which are generally encoded by 15-17 exons, this gene includes only 3 exons with the first large exon encoding the extracellular and transmembrane region. Although this gene product is capable of homophilic interaction, it appears to affect cell-cell adhesion indirectly by initiating signaling events that regulate classical cadherin-mediated adhesion. Based on studies on this protein and its orthologs, this protocadherin mainly functions in developing embryos and the central nervous system, but can also function as a tumor suppressor. Alternative splicing yielding isoforms with unique cytoplasmic tails has been reported. [provided by RefSeq, Sep 2009]
PHENOTYPE: Homozygous null mice are viable and fertile, and do not exhibit any gross skeletal defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik C T 11: 30,376,349 (GRCm39) V173M probably damaging Het
Abcg5 A G 17: 84,965,992 (GRCm39) L628S probably damaging Het
Acbd3 C T 1: 180,564,297 (GRCm39) R201* probably null Het
Adsl A G 15: 80,833,106 (GRCm39) probably benign Het
Asic1 GCACC GCACCACC 15: 99,596,684 (GRCm39) probably benign Het
Cachd1 T C 4: 100,823,397 (GRCm39) V483A possibly damaging Het
Calm1 T C 12: 100,166,472 (GRCm39) S19P probably benign Het
Casq1 T C 1: 172,040,641 (GRCm39) N313S possibly damaging Het
Cav2 G T 6: 17,286,935 (GRCm39) A64S possibly damaging Het
Ccdc167 C A 17: 29,924,485 (GRCm39) A39S possibly damaging Het
Cd274 T C 19: 29,359,936 (GRCm39) L247P probably benign Het
Cdhr5 T C 7: 140,854,361 (GRCm39) E138G probably damaging Het
Cltb C T 13: 54,741,693 (GRCm39) C81Y probably benign Het
Clvs1 T C 4: 9,281,865 (GRCm39) L103P possibly damaging Het
Cntrob G T 11: 69,212,717 (GRCm39) Q106K possibly damaging Het
Ctsh T C 9: 89,936,643 (GRCm39) L14P probably damaging Het
Cubn T C 2: 13,292,379 (GRCm39) N3268S probably damaging Het
Cyb5r4 T C 9: 86,909,001 (GRCm39) V26A possibly damaging Het
Ddx18 A G 1: 121,489,857 (GRCm39) I184T probably damaging Het
Ddx60 T A 8: 62,427,222 (GRCm39) W766R probably damaging Het
Dnah2 C T 11: 69,349,746 (GRCm39) R2399Q probably benign Het
Dnah5 G A 15: 28,272,318 (GRCm39) V1041I probably benign Het
Dnajc21 A T 15: 10,464,050 (GRCm39) N38K probably benign Het
Ermap T C 4: 119,043,015 (GRCm39) probably null Het
Fryl A G 5: 73,243,943 (GRCm39) L1209P possibly damaging Het
Gm5093 T C 17: 46,750,799 (GRCm39) E76G possibly damaging Het
Grk6 T C 13: 55,599,519 (GRCm39) C169R probably damaging Het
Hmgn1 A T 16: 95,923,627 (GRCm39) probably null Het
Lpcat2b T A 5: 107,582,001 (GRCm39) Y443* probably null Het
Macf1 T A 4: 123,365,882 (GRCm39) M1395L probably benign Het
Mllt10 C T 2: 18,213,585 (GRCm39) Q997* probably null Het
Mocos T A 18: 24,825,611 (GRCm39) V722E probably damaging Het
Moxd2 A T 6: 40,856,271 (GRCm39) L534M probably benign Het
Mphosph10 T C 7: 64,035,568 (GRCm39) M368V possibly damaging Het
Myo15a G A 11: 60,394,440 (GRCm39) G2383D probably damaging Het
Myo5b T C 18: 74,834,745 (GRCm39) I935T possibly damaging Het
Ndst4 T A 3: 125,231,560 (GRCm39) L43H probably damaging Het
Niban1 T A 1: 151,579,580 (GRCm39) L433Q possibly damaging Het
Nsl1 A G 1: 190,807,387 (GRCm39) N189D probably benign Het
Odad1 A G 7: 45,578,540 (GRCm39) I77V probably damaging Het
Or51e1 A T 7: 102,358,868 (GRCm39) H134L probably damaging Het
Pkhd1 A G 1: 20,279,448 (GRCm39) S2957P possibly damaging Het
Prdm9 T G 17: 15,783,155 (GRCm39) E42D probably damaging Het
Rasal1 C A 5: 120,813,460 (GRCm39) H611Q probably benign Het
Relch T A 1: 105,646,534 (GRCm39) L620* probably null Het
Rif1 T A 2: 51,971,301 (GRCm39) W260R probably damaging Het
Rpain A G 11: 70,864,658 (GRCm39) D115G probably benign Het
Rpl3l T C 17: 24,951,429 (GRCm39) V110A possibly damaging Het
Ryr2 T A 13: 11,787,338 (GRCm39) I1012F probably damaging Het
Sema4f A G 6: 82,894,631 (GRCm39) V480A probably benign Het
Slc35a3 T A 3: 116,474,794 (GRCm39) K199N probably damaging Het
Slc5a6 T C 5: 31,200,322 (GRCm39) Y121C probably damaging Het
Slc7a14 T C 3: 31,291,514 (GRCm39) probably null Het
Sort1 T A 3: 108,231,992 (GRCm39) I172N probably damaging Het
Spink5 C A 18: 44,122,518 (GRCm39) H328N probably damaging Het
Tbl1xr1 A G 3: 22,263,770 (GRCm39) D504G probably damaging Het
Tcaf3 C T 6: 42,573,954 (GRCm39) C86Y possibly damaging Het
Tfap2e T C 4: 126,628,434 (GRCm39) D174G probably benign Het
Tmem42 T C 9: 122,851,232 (GRCm39) V65A probably damaging Het
Vmn1r225 C G 17: 20,723,177 (GRCm39) T206R probably damaging Het
Vmn2r38 A G 7: 9,100,571 (GRCm39) F65S probably benign Het
Vmn2r87 A T 10: 130,333,208 (GRCm39) L14Q probably null Het
Xirp2 T C 2: 67,345,711 (GRCm39) S2651P probably benign Het
Zfp429 G A 13: 67,538,959 (GRCm39) L162F probably damaging Het
Zhx1 A T 15: 57,915,819 (GRCm39) M809K probably damaging Het
Other mutations in Pcdh8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02127:Pcdh8 APN 14 80,006,686 (GRCm39) missense probably damaging 0.99
IGL02611:Pcdh8 APN 14 80,005,107 (GRCm39) missense probably benign 0.00
R0094:Pcdh8 UTSW 14 80,005,588 (GRCm39) missense probably damaging 1.00
R0118:Pcdh8 UTSW 14 80,004,848 (GRCm39) missense probably damaging 1.00
R0558:Pcdh8 UTSW 14 80,007,516 (GRCm39) missense probably damaging 1.00
R0681:Pcdh8 UTSW 14 80,007,400 (GRCm39) missense probably benign
R0718:Pcdh8 UTSW 14 80,008,131 (GRCm39) missense possibly damaging 0.49
R1281:Pcdh8 UTSW 14 80,005,166 (GRCm39) missense probably damaging 1.00
R1487:Pcdh8 UTSW 14 80,006,987 (GRCm39) missense probably damaging 1.00
R1511:Pcdh8 UTSW 14 80,006,829 (GRCm39) missense possibly damaging 0.46
R1552:Pcdh8 UTSW 14 80,008,047 (GRCm39) missense probably benign 0.20
R1556:Pcdh8 UTSW 14 80,007,843 (GRCm39) missense probably damaging 1.00
R1659:Pcdh8 UTSW 14 80,005,574 (GRCm39) missense probably damaging 1.00
R2062:Pcdh8 UTSW 14 80,005,651 (GRCm39) missense probably damaging 1.00
R2063:Pcdh8 UTSW 14 80,005,651 (GRCm39) missense probably damaging 1.00
R2068:Pcdh8 UTSW 14 80,005,651 (GRCm39) missense probably damaging 1.00
R2920:Pcdh8 UTSW 14 80,006,154 (GRCm39) missense possibly damaging 0.88
R3970:Pcdh8 UTSW 14 80,007,706 (GRCm39) missense possibly damaging 0.78
R4113:Pcdh8 UTSW 14 80,004,953 (GRCm39) missense probably damaging 1.00
R4771:Pcdh8 UTSW 14 80,005,710 (GRCm39) missense possibly damaging 0.48
R4840:Pcdh8 UTSW 14 80,008,308 (GRCm39) missense possibly damaging 0.67
R5169:Pcdh8 UTSW 14 80,005,095 (GRCm39) missense probably benign 0.09
R5415:Pcdh8 UTSW 14 80,007,688 (GRCm39) nonsense probably null
R5548:Pcdh8 UTSW 14 80,004,942 (GRCm39) missense probably damaging 1.00
R5749:Pcdh8 UTSW 14 80,007,525 (GRCm39) missense probably damaging 1.00
R5778:Pcdh8 UTSW 14 80,008,197 (GRCm39) missense probably damaging 1.00
R5795:Pcdh8 UTSW 14 80,008,420 (GRCm39) missense possibly damaging 0.95
R6313:Pcdh8 UTSW 14 80,005,091 (GRCm39) missense probably benign 0.02
R7472:Pcdh8 UTSW 14 80,008,691 (GRCm39) splice site probably null
R7540:Pcdh8 UTSW 14 80,008,543 (GRCm39) missense probably benign
R7653:Pcdh8 UTSW 14 80,005,086 (GRCm39) missense probably benign 0.01
R7751:Pcdh8 UTSW 14 80,008,143 (GRCm39) missense probably damaging 0.96
R7836:Pcdh8 UTSW 14 80,006,101 (GRCm39) missense possibly damaging 0.73
R8281:Pcdh8 UTSW 14 80,006,919 (GRCm39) missense probably damaging 0.98
R8365:Pcdh8 UTSW 14 80,008,426 (GRCm39) missense probably damaging 1.00
R8751:Pcdh8 UTSW 14 80,006,229 (GRCm39) missense probably benign 0.01
R8814:Pcdh8 UTSW 14 80,006,337 (GRCm39) missense probably benign 0.00
R8931:Pcdh8 UTSW 14 80,006,971 (GRCm39) nonsense probably null
R9158:Pcdh8 UTSW 14 80,005,182 (GRCm39) missense probably damaging 1.00
R9485:Pcdh8 UTSW 14 80,005,689 (GRCm39) missense probably damaging 1.00
R9532:Pcdh8 UTSW 14 80,008,206 (GRCm39) missense possibly damaging 0.95
R9558:Pcdh8 UTSW 14 80,006,380 (GRCm39) missense probably damaging 0.99
Z1176:Pcdh8 UTSW 14 80,006,517 (GRCm39) missense probably benign 0.01
Z1177:Pcdh8 UTSW 14 80,007,321 (GRCm39) missense probably benign 0.14
Predicted Primers PCR Primer
(F):5'- TAAAGTGCTCGTGCCCGTAG -3'
(R):5'- GCTAGATGCCAATGACCACAGC -3'

Sequencing Primer
(F):5'- AGGTGATACCGGCTTCCTG -3'
(R):5'- AATTGGCCGAGGACGCAC -3'
Posted On 2016-07-06