Incidental Mutation 'R1503:Pcdhb8'
ID 169499
Institutional Source Beutler Lab
Gene Symbol Pcdhb8
Ensembl Gene ENSMUSG00000045876
Gene Name protocadherin beta 8
Synonyms PcdhbH, Pcdhb5C
MMRRC Submission 039553-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # R1503 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 37488324-37490663 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 37489572 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 76 (N76Y)
Ref Sequence ENSEMBL: ENSMUSP00000141814 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051163] [ENSMUST00000115661] [ENSMUST00000192867] [ENSMUST00000194544]
AlphaFold Q91XZ2
Predicted Effect probably damaging
Transcript: ENSMUST00000051163
AA Change: N417Y

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000054371
Gene: ENSMUSG00000045876
AA Change: N417Y

DomainStartEndE-ValueType
Pfam:Cadherin_2 30 112 6.6e-33 PFAM
CA 155 240 7.79e-22 SMART
CA 264 344 3.02e-28 SMART
CA 367 448 1.14e-23 SMART
CA 472 558 9.51e-26 SMART
CA 588 669 5.65e-10 SMART
Pfam:Cadherin_C_2 685 768 1.1e-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 damaging
Transcript: ENSMUST00000192867
AA Change: N76Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000141814
Gene: ENSMUSG00000045876
AA Change: N76Y

DomainStartEndE-ValueType
CA 26 104 7e-18 SMART
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: 99.1%
  • 3x: 98.2%
  • 10x: 96.1%
  • 20x: 92.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef6 T C X: 56,383,922 (GRCm39) M5V probably benign Het
Atf7ip G T 6: 136,583,865 (GRCm39) V1299L probably damaging Het
Atp12a A T 14: 56,610,881 (GRCm39) N342Y probably damaging Het
Atp8b5 G A 4: 43,344,430 (GRCm39) G439D probably damaging Het
Bpifb2 G A 2: 153,731,430 (GRCm39) D269N possibly damaging Het
Btd T G 14: 31,389,612 (GRCm39) C444W probably damaging Het
Cacna1a A G 8: 85,328,575 (GRCm39) D1624G probably benign Het
Carmil3 A C 14: 55,735,737 (GRCm39) N563T probably damaging Het
Cars1 T C 7: 143,122,726 (GRCm39) R538G probably benign Het
Catsperd A G 17: 56,961,525 (GRCm39) K416E possibly damaging Het
Cc2d2a A T 5: 43,852,581 (GRCm39) Y386F probably damaging Het
Ccpg1 A G 9: 72,906,760 (GRCm39) N66S probably benign Het
Cd48 T A 1: 171,523,415 (GRCm39) L86H probably damaging Het
Cdan1 A T 2: 120,560,056 (GRCm39) H369Q probably damaging Het
Chil4 T C 3: 106,113,350 (GRCm39) D189G probably benign Het
Cit T A 5: 116,011,959 (GRCm39) Y189N possibly damaging Het
Cntn3 G A 6: 102,441,526 (GRCm39) Q7* probably null Het
Csn1s2a A T 5: 87,923,658 (GRCm39) I5F possibly damaging Het
Ctnnd1 C T 2: 84,435,523 (GRCm39) probably null Het
Dmxl2 A T 9: 54,354,272 (GRCm39) Y391* probably null Het
Dnah12 T C 14: 26,495,649 (GRCm39) S1426P probably damaging Het
Dnhd1 T G 7: 105,342,867 (GRCm39) S1404A possibly damaging Het
Drosha T A 15: 12,848,159 (GRCm39) C484S probably benign Het
Dsg4 A T 18: 20,582,736 (GRCm39) I125F probably damaging Het
Egfr T A 11: 16,819,301 (GRCm39) M277K possibly damaging Het
Eml5 G T 12: 98,797,433 (GRCm39) L1059I probably damaging Het
Erbb4 G T 1: 68,385,705 (GRCm39) H295N probably benign Het
Etl4 T G 2: 20,748,685 (GRCm39) V139G possibly damaging Het
Fhip1a T A 3: 85,579,784 (GRCm39) Y807F possibly damaging Het
Frem3 A T 8: 81,413,647 (GRCm39) E1969D probably damaging Het
Gdf3 T A 6: 122,583,296 (GRCm39) D357V probably damaging Het
Gimap8 T A 6: 48,624,463 (GRCm39) probably null Het
Gml2 C A 15: 74,693,201 (GRCm39) S68* probably null Het
Gphn A G 12: 78,551,403 (GRCm39) I248V possibly damaging Het
Greb1 A T 12: 16,774,820 (GRCm39) Y192* probably null Het
Hmbs A C 9: 44,248,729 (GRCm39) L215W probably benign Het
Iglon5 T A 7: 43,128,449 (GRCm39) T123S probably benign Het
Ints2 C T 11: 86,117,607 (GRCm39) R705H probably damaging Het
Ints8 A T 4: 11,245,842 (GRCm39) L212Q probably damaging Het
Itgad A G 7: 127,797,293 (GRCm39) Y846C probably benign Het
Kcnj1 A G 9: 32,307,788 (GRCm39) T51A probably damaging Het
Kif9 A T 9: 110,339,506 (GRCm39) K449N possibly damaging Het
Kifbp A G 10: 62,395,187 (GRCm39) V485A probably damaging Het
Klk1b11 G A 7: 43,428,333 (GRCm39) W241* probably null Het
Krt32 T C 11: 99,974,936 (GRCm39) probably null Het
Loxl1 A G 9: 58,200,923 (GRCm39) F513S probably damaging Het
Mapk8ip3 A T 17: 25,123,897 (GRCm39) S571T probably damaging Het
Mcam C T 9: 44,052,588 (GRCm39) R606C probably damaging Het
Mtss1 T C 15: 58,823,521 (GRCm39) N282S probably damaging Het
Myh13 T A 11: 67,244,500 (GRCm39) D1012E probably benign Het
Myo16 A G 8: 10,552,817 (GRCm39) T952A probably benign Het
Neb T C 2: 52,188,632 (GRCm39) D874G probably damaging Het
Nek11 A G 9: 105,040,403 (GRCm39) Y553H probably damaging Het
Nr2c2 T A 6: 92,082,312 (GRCm39) V9D probably benign Het
Nxf1 T A 19: 8,739,800 (GRCm39) F51L probably benign Het
Or1e1f T G 11: 73,855,394 (GRCm39) probably null Het
Or1j15 A T 2: 36,458,885 (GRCm39) I92F probably damaging Het
Or2aj5 A G 16: 19,425,062 (GRCm39) S119P probably benign Het
Or4c35 T C 2: 89,808,872 (GRCm39) V250A probably damaging Het
Or5bw2 A G 7: 6,573,470 (GRCm39) N160S probably damaging Het
Or6s1 A G 14: 51,308,191 (GRCm39) S220P probably damaging Het
Or6z6 T C 7: 6,491,178 (GRCm39) I232V probably damaging Het
Pdzrn4 T A 15: 92,297,685 (GRCm39) F217I probably damaging Het
Ppp1r16a T A 15: 76,578,599 (GRCm39) H434Q probably benign Het
Prpf19 T A 19: 10,878,386 (GRCm39) F291I possibly damaging Het
R3hdm2 G T 10: 127,307,695 (GRCm39) E319* probably null Het
Sel1l3 A G 5: 53,295,271 (GRCm39) Y777H probably damaging Het
Serpinb5 G A 1: 106,798,019 (GRCm39) A3T possibly damaging Het
Skp2 C A 15: 9,127,998 (GRCm39) V88F probably damaging Het
Slc25a16 T C 10: 62,764,155 (GRCm39) Y71H probably damaging Het
Slc6a6 T A 6: 91,717,973 (GRCm39) I304N probably damaging Het
Sned1 G A 1: 93,209,376 (GRCm39) V830M possibly damaging Het
Sox17 C A 1: 4,562,151 (GRCm39) G222C probably damaging Het
Trmu T A 15: 85,779,220 (GRCm39) V289E possibly damaging Het
Vdac2 A G 14: 21,887,945 (GRCm39) E96G probably damaging Het
Wdhd1 A T 14: 47,484,857 (GRCm39) D885E probably benign Het
Zfp646 A G 7: 127,479,308 (GRCm39) N495S probably damaging Het
Zfp663 T C 2: 165,194,573 (GRCm39) T549A probably damaging Het
Zfp935 G A 13: 62,602,951 (GRCm39) A83V possibly damaging Het
Other mutations in Pcdhb8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00264:Pcdhb8 APN 18 37,488,526 (GRCm39) missense probably benign 0.00
IGL00574:Pcdhb8 APN 18 37,489,423 (GRCm39) missense probably damaging 1.00
IGL00960:Pcdhb8 APN 18 37,489,026 (GRCm39) missense probably benign 0.28
IGL01103:Pcdhb8 APN 18 37,490,253 (GRCm39) missense probably damaging 1.00
IGL01330:Pcdhb8 APN 18 37,490,631 (GRCm39) missense probably benign 0.12
IGL01413:Pcdhb8 APN 18 37,489,029 (GRCm39) missense probably damaging 1.00
IGL01418:Pcdhb8 APN 18 37,489,029 (GRCm39) missense probably damaging 1.00
IGL01608:Pcdhb8 APN 18 37,489,978 (GRCm39) missense probably damaging 1.00
IGL02212:Pcdhb8 APN 18 37,489,465 (GRCm39) missense possibly damaging 0.95
IGL02582:Pcdhb8 APN 18 37,488,427 (GRCm39) missense possibly damaging 0.79
IGL02607:Pcdhb8 APN 18 37,490,634 (GRCm39) missense probably benign 0.00
IGL02882:Pcdhb8 APN 18 37,489,276 (GRCm39) missense possibly damaging 0.95
IGL03005:Pcdhb8 APN 18 37,490,587 (GRCm39) missense probably damaging 1.00
IGL03108:Pcdhb8 APN 18 37,490,299 (GRCm39) missense probably damaging 1.00
PIT4468001:Pcdhb8 UTSW 18 37,489,686 (GRCm39) missense probably damaging 1.00
R0104:Pcdhb8 UTSW 18 37,488,718 (GRCm39) missense probably benign 0.01
R0490:Pcdhb8 UTSW 18 37,489,833 (GRCm39) missense probably damaging 1.00
R0617:Pcdhb8 UTSW 18 37,490,100 (GRCm39) missense probably benign 0.02
R1168:Pcdhb8 UTSW 18 37,489,780 (GRCm39) missense probably benign
R1189:Pcdhb8 UTSW 18 37,489,620 (GRCm39) nonsense probably null
R1232:Pcdhb8 UTSW 18 37,488,828 (GRCm39) missense probably benign 0.28
R1576:Pcdhb8 UTSW 18 37,489,756 (GRCm39) missense probably damaging 1.00
R1731:Pcdhb8 UTSW 18 37,488,891 (GRCm39) missense probably damaging 1.00
R1908:Pcdhb8 UTSW 18 37,489,015 (GRCm39) missense possibly damaging 0.84
R1909:Pcdhb8 UTSW 18 37,489,015 (GRCm39) missense possibly damaging 0.84
R2215:Pcdhb8 UTSW 18 37,490,127 (GRCm39) missense probably damaging 0.98
R3080:Pcdhb8 UTSW 18 37,489,219 (GRCm39) missense probably damaging 1.00
R4394:Pcdhb8 UTSW 18 37,489,935 (GRCm39) missense probably damaging 1.00
R4799:Pcdhb8 UTSW 18 37,488,706 (GRCm39) missense probably damaging 1.00
R4845:Pcdhb8 UTSW 18 37,489,771 (GRCm39) missense probably benign 0.43
R4879:Pcdhb8 UTSW 18 37,489,219 (GRCm39) missense probably damaging 1.00
R4941:Pcdhb8 UTSW 18 37,489,059 (GRCm39) missense probably benign 0.03
R5086:Pcdhb8 UTSW 18 37,489,159 (GRCm39) missense probably damaging 1.00
R5416:Pcdhb8 UTSW 18 37,490,008 (GRCm39) missense probably damaging 1.00
R5774:Pcdhb8 UTSW 18 37,489,738 (GRCm39) missense probably damaging 1.00
R5898:Pcdhb8 UTSW 18 37,490,537 (GRCm39) missense possibly damaging 0.92
R5935:Pcdhb8 UTSW 18 37,489,243 (GRCm39) missense probably damaging 1.00
R6191:Pcdhb8 UTSW 18 37,489,279 (GRCm39) missense probably benign
R6228:Pcdhb8 UTSW 18 37,490,037 (GRCm39) missense probably benign 0.05
R6245:Pcdhb8 UTSW 18 37,490,222 (GRCm39) missense possibly damaging 0.80
R6397:Pcdhb8 UTSW 18 37,488,516 (GRCm39) nonsense probably null
R7469:Pcdhb8 UTSW 18 37,489,011 (GRCm39) missense probably damaging 1.00
R7632:Pcdhb8 UTSW 18 37,488,648 (GRCm39) missense probably benign 0.00
R8323:Pcdhb8 UTSW 18 37,488,476 (GRCm39) missense probably benign 0.23
R8735:Pcdhb8 UTSW 18 37,489,975 (GRCm39) missense possibly damaging 0.91
R8841:Pcdhb8 UTSW 18 37,488,699 (GRCm39) missense probably benign 0.26
R8856:Pcdhb8 UTSW 18 37,489,776 (GRCm39) missense probably benign 0.01
R9020:Pcdhb8 UTSW 18 37,489,837 (GRCm39) missense probably damaging 1.00
R9055:Pcdhb8 UTSW 18 37,490,585 (GRCm39) nonsense probably null
R9077:Pcdhb8 UTSW 18 37,489,414 (GRCm39) missense probably damaging 0.99
R9387:Pcdhb8 UTSW 18 37,488,751 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TGGATGTGAACGACAATGCCCC -3'
(R):5'- TCTGAGTTGATGGAGATCAGCGAGG -3'

Sequencing Primer
(F):5'- TAGTTCCATCCCAGAAAATGCTC -3'
(R):5'- CATTGGAGCCAGAGTCTGAGTC -3'
Posted On 2014-04-13