Incidental Mutation 'R5827:Pcdhb9'
ID 450239
Institutional Source Beutler Lab
Gene Symbol Pcdhb9
Ensembl Gene ENSMUSG00000051242
Gene Name protocadherin beta 9
Synonyms Pcdhb4C, PcdhbI
MMRRC Submission 043218-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.104) question?
Stock # R5827 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 37533908-37536962 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 37535011 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 335 (D335V)
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: D335V

PolyPhen 2 Score 0.717 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000058801
Gene: ENSMUSG00000051242
AA Change: D335V

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: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b C A 11: 109,868,639 (GRCm39) G175V probably damaging Het
Agl T C 3: 116,574,703 (GRCm39) I34V probably damaging Het
Cavin4 A T 4: 48,672,074 (GRCm39) D173V probably damaging Het
Chd9 A G 8: 91,716,078 (GRCm39) D884G probably damaging Het
Col6a5 G A 9: 105,805,319 (GRCm39) R1196* probably null Het
Disc1 T C 8: 125,862,104 (GRCm39) L492P probably damaging Het
Dscam A G 16: 96,451,191 (GRCm39) probably null Het
Fbxw4 T C 19: 45,568,096 (GRCm39) T26A probably benign Het
H1f6 A G 13: 23,880,185 (GRCm39) K113E possibly damaging Het
Klhl24 T A 16: 19,938,871 (GRCm39) Y475* probably null Het
Map4k3 C T 17: 80,900,712 (GRCm39) probably null Het
Mfsd6 T C 1: 52,701,551 (GRCm39) E633G probably damaging Het
Mycn G A 12: 12,989,794 (GRCm39) R201* probably null Het
Nek11 T C 9: 105,191,944 (GRCm39) I155M probably damaging Het
Notch2 G A 3: 97,980,178 (GRCm39) V231I possibly damaging Het
Npnt A C 3: 132,612,536 (GRCm39) V187G possibly damaging Het
Nr1d2 C A 14: 18,222,248 (GRCm38) V8L possibly damaging Het
Nup188 C T 2: 30,229,859 (GRCm39) T1359I probably damaging Het
Or2m12 T A 16: 19,105,182 (GRCm39) I104L probably benign Het
Or4k35 A T 2: 111,100,266 (GRCm39) W149R probably damaging Het
Or5m11b C A 2: 85,805,650 (GRCm39) P21Q probably benign Het
Or8g36 T A 9: 39,422,354 (GRCm39) I221F probably damaging Het
P2rx2 C T 5: 110,488,195 (GRCm39) R453Q probably benign Het
Pcdhb7 A G 18: 37,475,077 (GRCm39) E71G probably benign Het
Pcsk9 C T 4: 106,306,144 (GRCm39) G368R probably damaging Het
Ptgr2 G A 12: 84,342,110 (GRCm39) probably null Het
Rhebl1 T A 15: 98,776,151 (GRCm39) I168F probably damaging Het
Serpina3b A G 12: 104,097,036 (GRCm39) T106A probably benign Het
Sh3pxd2b A G 11: 32,372,422 (GRCm39) I530V probably benign Het
Skint10 T C 4: 112,603,972 (GRCm39) T72A probably benign Het
Slx4 G T 16: 3,819,148 (GRCm39) F8L possibly damaging Het
Tdp2 T C 13: 25,015,836 (GRCm39) L41P probably damaging Het
Tiam2 A G 17: 3,498,764 (GRCm39) I847V probably benign Het
Tmem200c A G 17: 69,149,004 (GRCm39) E529G probably benign Het
Tnpo1 T C 13: 98,993,416 (GRCm39) D590G probably damaging Het
Ube3d T C 9: 86,254,489 (GRCm39) T331A possibly damaging Het
Ugt1a2 T A 1: 88,128,787 (GRCm39) S143R probably damaging Het
Zfp58 A T 13: 67,639,412 (GRCm39) C360S probably damaging 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
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
R6147:Pcdhb9 UTSW 18 37,535,494 (GRCm39) missense possibly damaging 0.95
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 PCR Primer
(F):5'- CTCCTGAGTTTGTGAACAGTCC -3'
(R):5'- GTCCCCAACTCTGAAGATGC -3'

Sequencing Primer
(F):5'- TGAACAGTCCCTATGAGGTGC -3'
(R):5'- CCCAACTCTGAAGATGCTTATGATCG -3'
Posted On 2016-12-20