Incidental Mutation 'R6147:Pcdhb9'
ID 488980
Institutional Source Beutler Lab
Gene Symbol Pcdhb9
Ensembl Gene ENSMUSG00000051242
Gene Name protocadherin beta 9
Synonyms Pcdhb4C, PcdhbI
MMRRC Submission 044294-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.104) question?
Stock # R6147 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 37533908-37536962 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 37535494 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 496 (R496L)
Ref Sequence ENSEMBL: ENSMUSP00000058801 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057228] [ENSMUST00000115661] [ENSMUST00000194544]
AlphaFold E9Q5G2
Predicted Effect possibly damaging
Transcript: ENSMUST00000057228
AA Change: R496L

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000058801
Gene: ENSMUSG00000051242
AA Change: R496L

DomainStartEndE-ValueType
Pfam:Cadherin_2 65 147 2.3e-33 PFAM
CA 190 275 1.28e-17 SMART
CA 299 380 7.6e-25 SMART
CA 403 484 5.81e-21 SMART
CA 508 594 9.8e-28 SMART
CA 624 705 1.86e-10 SMART
Pfam:Cadherin_C_2 722 805 2.3e-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 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: 99.8%
  • 3x: 99.3%
  • 10x: 97.1%
  • 20x: 92.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acmsd C T 1: 127,657,157 (GRCm39) probably benign Het
Acsf3 T A 8: 123,508,213 (GRCm39) D236E probably damaging Het
Aqp1 G T 6: 55,313,595 (GRCm39) E40D probably benign Het
Arfgef2 A G 2: 166,713,415 (GRCm39) D1272G probably damaging Het
Arfip1 A G 3: 84,436,485 (GRCm39) V97A probably benign Het
Atp6v1b2 T A 8: 69,555,134 (GRCm39) Y165* probably null Het
Bclaf1 T A 10: 20,199,171 (GRCm39) D189E possibly damaging Het
Camsap2 G A 1: 136,273,138 (GRCm39) T13M probably damaging Het
Cblif G A 19: 11,724,936 (GRCm39) probably benign Het
Cntn5 T A 9: 10,012,894 (GRCm39) Y297F probably damaging Het
Cntnap5b G A 1: 99,978,506 (GRCm39) C174Y probably damaging Het
Cntrl A C 2: 35,055,745 (GRCm39) D1213A possibly damaging Het
Comtd1 C A 14: 21,898,883 (GRCm39) A20S probably damaging Het
Cspg4 A T 9: 56,796,056 (GRCm39) R1264W probably damaging Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Dlgap2 T A 8: 14,777,294 (GRCm39) C180S probably benign Het
Ednra C T 8: 78,393,951 (GRCm39) probably benign Het
Efcab3 T C 11: 104,858,566 (GRCm39) V3875A unknown Het
Ephb6 A T 6: 41,593,715 (GRCm39) S533C probably damaging Het
Fndc1 A T 17: 7,972,594 (GRCm39) probably null Het
Gm12185 A G 11: 48,806,717 (GRCm39) I158T probably benign Het
Gm14325 A T 2: 177,474,600 (GRCm39) C161S probably damaging Het
Ighv9-1 T A 12: 114,057,840 (GRCm39) Q20L probably damaging Het
Khnyn G C 14: 56,125,060 (GRCm39) S438T probably damaging Het
Krt9 T C 11: 100,079,665 (GRCm39) S576G unknown Het
Lrriq4 A T 3: 30,713,228 (GRCm39) N443I probably damaging Het
Luzp1 A G 4: 136,268,374 (GRCm39) Y199C probably damaging Het
Map2k3 T A 11: 60,840,776 (GRCm39) Y268* probably null Het
Men1 T A 19: 6,387,272 (GRCm39) D248E probably damaging Het
Mfsd4b2 A T 10: 39,797,573 (GRCm39) C261S probably benign Het
Mpeg1 T G 19: 12,440,258 (GRCm39) I572S probably damaging Het
Mrgprb2 A G 7: 48,202,113 (GRCm39) V204A possibly damaging Het
Mycbp2 A T 14: 103,392,945 (GRCm39) C805* probably null Het
Nphs2 A T 1: 156,146,296 (GRCm39) K91* probably null Het
Obox3 A G 7: 15,359,926 (GRCm39) S248P probably damaging Het
Or12d17 T C 17: 37,777,430 (GRCm39) I111T probably benign Het
Or5w19 C T 2: 87,699,061 (GRCm39) T242I probably benign Het
Or8k22 A T 2: 86,162,844 (GRCm39) N285K probably damaging Het
Otogl G A 10: 107,612,978 (GRCm39) silent Het
Pan3 T C 5: 147,485,093 (GRCm39) probably benign Het
Pate10 A G 9: 35,653,528 (GRCm39) T111A possibly damaging Het
Pate10 A T 9: 35,653,406 (GRCm39) Y70F possibly damaging Het
Pcdhb5 T A 18: 37,453,779 (GRCm39) L53Q probably damaging Het
Peg10 C T 6: 4,754,499 (GRCm39) probably benign Het
Plce1 A G 19: 38,690,481 (GRCm39) K722E probably damaging Het
Plch1 A G 3: 63,630,302 (GRCm39) S489P probably damaging Het
Plekhg3 T C 12: 76,611,985 (GRCm39) V362A probably damaging Het
Prorp A G 12: 55,426,093 (GRCm39) Y168C probably damaging Het
Radil G A 5: 142,483,695 (GRCm39) H264Y probably benign Het
Ranbp2 C A 10: 58,315,250 (GRCm39) T1990K probably damaging Het
Rnf207 T C 4: 152,400,112 (GRCm39) D192G probably damaging Het
Ryr1 A T 7: 28,785,339 (GRCm39) F1784Y possibly damaging Het
Set T A 2: 29,956,836 (GRCm39) S2T probably benign Het
Slc26a2 T A 18: 61,334,757 (GRCm39) Y232F probably damaging Het
Sntb1 T A 15: 55,511,406 (GRCm39) M393L probably benign Het
Stx16 A G 2: 173,932,480 (GRCm39) T18A probably damaging Het
Stxbp5 A T 10: 9,684,216 (GRCm39) S585T possibly damaging Het
Sult2a7 T C 7: 14,199,088 (GRCm39) E313G probably damaging Het
Tbck A G 3: 132,400,207 (GRCm39) K86R probably benign Het
Tom1 A T 8: 75,781,320 (GRCm39) Q255L possibly damaging Het
Trbv4 A G 6: 41,036,637 (GRCm39) Y54C probably damaging Het
Trim34a A T 7: 103,910,398 (GRCm39) Q400L probably damaging Het
Trim42 G T 9: 97,245,382 (GRCm39) H473N probably benign Het
Tsbp1 T C 17: 34,637,897 (GRCm39) S31P possibly damaging Het
Tshr T A 12: 91,505,009 (GRCm39) M649K possibly damaging Het
Vmn2r11 C T 5: 109,202,700 (GRCm39) V126M probably benign Het
Vps13b T A 15: 35,930,177 (GRCm39) H3971Q probably benign Het
Wdr75 T A 1: 45,858,698 (GRCm39) N622K probably benign Het
Wdr93 A T 7: 79,408,245 (GRCm39) Q242L probably benign Het
Other mutations in Pcdhb9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00157:Pcdhb9 APN 18 37,536,332 (GRCm39) missense possibly damaging 0.59
IGL01557:Pcdhb9 APN 18 37,536,100 (GRCm39) missense probably damaging 1.00
IGL01716:Pcdhb9 APN 18 37,536,228 (GRCm39) missense probably damaging 0.99
IGL01954:Pcdhb9 APN 18 37,534,794 (GRCm39) missense probably damaging 1.00
IGL02063:Pcdhb9 APN 18 37,534,810 (GRCm39) missense probably benign 0.21
IGL03057:Pcdhb9 APN 18 37,534,330 (GRCm39) missense probably benign 0.00
R0140:Pcdhb9 UTSW 18 37,536,014 (GRCm39) missense possibly damaging 0.89
R0180:Pcdhb9 UTSW 18 37,535,307 (GRCm39) missense probably damaging 1.00
R0349:Pcdhb9 UTSW 18 37,535,632 (GRCm39) missense probably damaging 0.99
R0616:Pcdhb9 UTSW 18 37,535,028 (GRCm39) nonsense probably null
R0669:Pcdhb9 UTSW 18 37,535,308 (GRCm39) missense probably damaging 1.00
R1256:Pcdhb9 UTSW 18 37,536,169 (GRCm39) missense possibly damaging 0.94
R1642:Pcdhb9 UTSW 18 37,533,987 (GRCm39) intron probably benign
R1678:Pcdhb9 UTSW 18 37,534,682 (GRCm39) missense probably damaging 1.00
R1711:Pcdhb9 UTSW 18 37,536,380 (GRCm39) nonsense probably null
R1762:Pcdhb9 UTSW 18 37,536,136 (GRCm39) missense probably benign 0.00
R1823:Pcdhb9 UTSW 18 37,535,871 (GRCm39) missense probably benign 0.14
R1868:Pcdhb9 UTSW 18 37,535,137 (GRCm39) missense probably damaging 1.00
R1959:Pcdhb9 UTSW 18 37,536,369 (GRCm39) missense probably damaging 1.00
R2446:Pcdhb9 UTSW 18 37,536,340 (GRCm39) missense probably damaging 0.99
R2889:Pcdhb9 UTSW 18 37,536,276 (GRCm39) missense probably benign 0.06
R2890:Pcdhb9 UTSW 18 37,536,379 (GRCm39) missense probably benign 0.23
R3196:Pcdhb9 UTSW 18 37,534,663 (GRCm39) missense probably benign 0.02
R3725:Pcdhb9 UTSW 18 37,534,654 (GRCm39) missense possibly damaging 0.95
R3726:Pcdhb9 UTSW 18 37,534,654 (GRCm39) missense possibly damaging 0.95
R4179:Pcdhb9 UTSW 18 37,534,168 (GRCm39) missense probably benign 0.17
R4326:Pcdhb9 UTSW 18 37,534,876 (GRCm39) missense probably benign 0.15
R4326:Pcdhb9 UTSW 18 37,534,875 (GRCm39) missense probably benign 0.04
R4327:Pcdhb9 UTSW 18 37,534,876 (GRCm39) missense probably benign 0.15
R4327:Pcdhb9 UTSW 18 37,534,875 (GRCm39) missense probably benign 0.04
R4329:Pcdhb9 UTSW 18 37,534,876 (GRCm39) missense probably benign 0.15
R4329:Pcdhb9 UTSW 18 37,534,875 (GRCm39) missense probably benign 0.04
R4626:Pcdhb9 UTSW 18 37,535,302 (GRCm39) missense probably benign 0.01
R4738:Pcdhb9 UTSW 18 37,536,468 (GRCm39) missense probably benign 0.33
R4888:Pcdhb9 UTSW 18 37,536,286 (GRCm39) missense probably benign 0.22
R5140:Pcdhb9 UTSW 18 37,534,186 (GRCm39) missense probably benign 0.00
R5186:Pcdhb9 UTSW 18 37,534,285 (GRCm39) missense probably damaging 1.00
R5502:Pcdhb9 UTSW 18 37,534,656 (GRCm39) missense possibly damaging 0.95
R5586:Pcdhb9 UTSW 18 37,534,167 (GRCm39) missense probably benign
R5601:Pcdhb9 UTSW 18 37,535,259 (GRCm39) missense probably damaging 1.00
R5624:Pcdhb9 UTSW 18 37,534,459 (GRCm39) missense probably benign
R5827:Pcdhb9 UTSW 18 37,535,011 (GRCm39) missense possibly damaging 0.72
R5829:Pcdhb9 UTSW 18 37,534,942 (GRCm39) missense probably damaging 0.97
R5837:Pcdhb9 UTSW 18 37,535,851 (GRCm39) missense probably damaging 1.00
R6228:Pcdhb9 UTSW 18 37,535,115 (GRCm39) missense probably benign 0.00
R6245:Pcdhb9 UTSW 18 37,536,207 (GRCm39) missense probably damaging 1.00
R6304:Pcdhb9 UTSW 18 37,534,420 (GRCm39) missense probably damaging 0.99
R6542:Pcdhb9 UTSW 18 37,534,642 (GRCm39) missense probably damaging 0.99
R6904:Pcdhb9 UTSW 18 37,534,970 (GRCm39) missense probably benign 0.01
R7058:Pcdhb9 UTSW 18 37,536,334 (GRCm39) missense probably benign 0.35
R7159:Pcdhb9 UTSW 18 37,534,545 (GRCm39) missense possibly damaging 0.89
R7258:Pcdhb9 UTSW 18 37,535,167 (GRCm39) missense probably damaging 1.00
R7800:Pcdhb9 UTSW 18 37,534,602 (GRCm39) missense probably benign 0.01
R8027:Pcdhb9 UTSW 18 37,536,069 (GRCm39) missense possibly damaging 0.81
R8141:Pcdhb9 UTSW 18 37,535,361 (GRCm39) missense probably damaging 1.00
R8157:Pcdhb9 UTSW 18 37,536,208 (GRCm39) missense probably damaging 1.00
R8729:Pcdhb9 UTSW 18 37,535,639 (GRCm39) missense possibly damaging 0.88
R8748:Pcdhb9 UTSW 18 37,535,901 (GRCm39) missense probably damaging 1.00
R8833:Pcdhb9 UTSW 18 37,534,468 (GRCm39) missense probably benign
R9083:Pcdhb9 UTSW 18 37,535,770 (GRCm39) missense probably damaging 1.00
R9562:Pcdhb9 UTSW 18 37,534,665 (GRCm39) missense probably benign
R9779:Pcdhb9 UTSW 18 37,535,253 (GRCm39) missense probably benign 0.00
Predicted Primers
Posted On 2017-10-10