Incidental Mutation 'IGL01716:Pcdhb9'
ID 104928
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pcdhb9
Ensembl Gene ENSMUSG00000051242
Gene Name protocadherin beta 9
Synonyms Pcdhb4C, PcdhbI
Accession Numbers
Essential gene? Probably non essential (E-score: 0.104) question?
Stock # IGL01716
Quality Score
Status
Chromosome 18
Chromosomal Location 37533908-37536962 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 37536228 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 741 (S741T)
Ref Sequence ENSEMBL: ENSMUSP00000058801 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057228] [ENSMUST00000115661] [ENSMUST00000194544]
AlphaFold E9Q5G2
Predicted Effect probably damaging
Transcript: ENSMUST00000057228
AA Change: S741T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000058801
Gene: ENSMUSG00000051242
AA Change: S741T

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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alms1 G A 6: 85,605,076 (GRCm39) R1773Q probably benign Het
Apba2 T C 7: 64,395,574 (GRCm39) probably benign Het
Asap2 A G 12: 21,304,307 (GRCm39) D741G possibly damaging Het
Cfap65 T C 1: 74,966,353 (GRCm39) T325A probably benign Het
Cyp2b23 A T 7: 26,378,915 (GRCm39) V183E probably damaging Het
Cyp4f14 T A 17: 33,124,470 (GRCm39) probably benign Het
Dip2b A G 15: 100,107,517 (GRCm39) T1176A probably benign Het
Dnah1 A G 14: 30,985,335 (GRCm39) I3852T probably benign Het
Exoc6 T A 19: 37,671,412 (GRCm39) S801T probably damaging Het
Fancd2os T C 6: 113,574,615 (GRCm39) I130M probably damaging Het
Flywch1 A G 17: 23,982,000 (GRCm39) V68A probably benign Het
Kif24 T C 4: 41,393,454 (GRCm39) T1140A probably benign Het
Limk2 C T 11: 3,308,990 (GRCm39) probably null Het
Mag C T 7: 30,599,812 (GRCm39) V576I probably benign Het
Mei4 C T 9: 81,772,235 (GRCm39) A16V probably damaging Het
Ncoa7 A G 10: 30,538,330 (GRCm39) I685T probably damaging Het
Nfxl1 A T 5: 72,698,277 (GRCm39) V256E probably damaging Het
Or1a1 C T 11: 74,087,207 (GRCm39) R293W probably benign Het
Or1j20 T A 2: 36,759,679 (GRCm39) F34I probably benign Het
Or9g4b A T 2: 85,616,487 (GRCm39) I211F probably damaging Het
Pcdhb2 T C 18: 37,429,791 (GRCm39) V588A probably damaging Het
Pcdhb5 T G 18: 37,454,075 (GRCm39) S152A probably benign Het
Plekha4 C A 7: 45,183,767 (GRCm39) S66R probably damaging Het
Prex2 A G 1: 11,336,278 (GRCm39) N1492S probably benign Het
Rbfox3 T C 11: 118,404,115 (GRCm39) H28R possibly damaging Het
Reep2 C T 18: 34,979,302 (GRCm39) T209I probably benign Het
Rptn A G 3: 93,304,017 (GRCm39) H450R possibly damaging Het
Spock3 A G 8: 63,808,384 (GRCm39) D427G unknown Het
Tnfrsf1b C T 4: 144,942,493 (GRCm39) C430Y probably damaging Het
Ttn T A 2: 76,560,746 (GRCm39) L29218F probably damaging Het
Ttn A T 2: 76,560,748 (GRCm39) L29218I probably damaging Het
Tubgcp3 T C 8: 12,691,094 (GRCm39) probably benign Het
Upp2 A C 2: 58,680,058 (GRCm39) T295P probably damaging Het
Xpo7 A G 14: 70,922,995 (GRCm39) V528A probably damaging Het
Zc3h7a A G 16: 10,963,580 (GRCm39) C714R probably damaging Het
Zfp764l1 A G 7: 126,991,208 (GRCm39) S260P possibly damaging Het
Zpbp A T 11: 11,354,052 (GRCm39) S295T 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
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
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
Posted On 2014-01-21