Incidental Mutation 'R4326:Pcdhb9'
ID 324391
Institutional Source Beutler Lab
Gene Symbol Pcdhb9
Ensembl Gene ENSMUSG00000051242
Gene Name protocadherin beta 9
Synonyms Pcdhb4C, PcdhbI
MMRRC Submission 041096-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.104) question?
Stock # R4326 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 37533908-37536962 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 37534876 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Isoleucine at position 290 (S290I)
Ref Sequence ENSEMBL: ENSMUSP00000058801 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057228] [ENSMUST00000115661] [ENSMUST00000194544]
AlphaFold E9Q5G2
Predicted Effect probably benign
Transcript: ENSMUST00000057228
AA Change: S290I

PolyPhen 2 Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000058801
Gene: ENSMUSG00000051242
AA Change: S290I

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
Meta Mutation Damage Score 0.3603 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 98% (57/58)
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd3 A G 3: 121,555,119 (GRCm39) V616A probably benign Het
Abhd17a A G 10: 80,419,884 (GRCm39) S241P probably benign Het
Adamts15 T C 9: 30,815,814 (GRCm39) S681G probably benign Het
Arap2 A T 5: 62,779,206 (GRCm39) H1461Q possibly damaging Het
Armc3 A G 2: 19,305,284 (GRCm39) K681E probably damaging Het
Arrdc5 T C 17: 56,601,420 (GRCm39) E235G possibly damaging Het
Atxn1 T C 13: 46,119,443 (GRCm39) probably benign Het
C9orf72 T A 4: 35,225,985 (GRCm39) probably benign Het
Capn13 C A 17: 73,638,103 (GRCm39) K433N probably benign Het
Ccdc113 G A 8: 96,283,896 (GRCm39) M323I probably benign Het
Cd55 A T 1: 130,380,220 (GRCm39) C253S probably damaging Het
Cyp2j8 T A 4: 96,395,566 (GRCm39) T20S probably benign Het
Dnah8 G A 17: 30,971,066 (GRCm39) V2707M probably benign Het
Erlec1 C T 11: 30,899,972 (GRCm39) E166K probably benign Het
Fastkd2 A G 1: 63,791,516 (GRCm39) K675E probably benign Het
Gid4 G A 11: 60,308,662 (GRCm39) V61M possibly damaging Het
Glt28d2 G A 3: 85,779,393 (GRCm39) Q27* probably null Het
Ipo8 A T 6: 148,701,662 (GRCm39) probably benign Het
Isx A G 8: 75,600,284 (GRCm39) I6V probably benign Het
Itsn1 A G 16: 91,650,743 (GRCm39) probably benign Het
Klhl40 A G 9: 121,607,956 (GRCm39) D372G probably benign Het
Krt80 C T 15: 101,250,189 (GRCm39) V19M possibly damaging Het
Lingo2 T A 4: 35,708,462 (GRCm39) D506V probably damaging Het
Lmo7 A T 14: 102,137,510 (GRCm39) E504D possibly damaging Het
Lpcat4 G A 2: 112,076,737 (GRCm39) E454K probably benign Het
Macf1 C T 4: 123,276,005 (GRCm39) A4176T probably damaging Het
Noxo1 G A 17: 24,917,937 (GRCm39) R81H probably benign Het
Or10ab4 T C 7: 107,654,362 (GRCm39) Y58H probably damaging Het
Or7g34 T A 9: 19,478,318 (GRCm39) M121L possibly damaging Het
Pafah1b1 T C 11: 74,573,066 (GRCm39) T333A probably benign Het
Pak1ip1 A G 13: 41,158,232 (GRCm39) D35G possibly damaging Het
Pak3 T C X: 142,516,205 (GRCm39) probably null Het
Ppp2r2d T A 7: 138,470,214 (GRCm39) V25D probably damaging Het
Prdm15 G T 16: 97,607,715 (GRCm39) N709K probably damaging Het
Ptprs C A 17: 56,754,468 (GRCm39) A191S possibly damaging Het
Rrs1 G T 1: 9,616,566 (GRCm39) R273L possibly damaging Het
Sin3a T C 9: 57,002,642 (GRCm39) L178P probably damaging Het
Slc13a1 A G 6: 24,103,478 (GRCm39) V355A probably benign Het
Spen T G 4: 141,204,683 (GRCm39) N1315H unknown Het
Ssrp1 A G 2: 84,870,561 (GRCm39) probably benign Het
St7 G A 6: 17,819,287 (GRCm39) V64M probably damaging Het
Syne2 C A 12: 75,999,516 (GRCm39) A2304E probably damaging Het
Tcf25 T A 8: 124,127,882 (GRCm39) L622* probably null Het
Tmem107 G T 11: 68,962,301 (GRCm39) probably null Het
Tmem62 T A 2: 120,810,991 (GRCm39) N156K probably damaging Het
Wdr90 G T 17: 26,072,705 (GRCm39) R884S probably benign Het
Zfp184 T C 13: 22,144,072 (GRCm39) Y593H probably damaging Het
Zfp934 T G 13: 62,665,373 (GRCm39) N312H probably benign Het
Zfta A G 19: 7,398,591 (GRCm39) 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 37,534,875 (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
Predicted Primers PCR Primer
(F):5'- AAATACCCAGAGTTGGTGCAG -3'
(R):5'- CTATGGCCTCGATTTCCACATGG -3'

Sequencing Primer
(F):5'- CCCAGAGTTGGTGCAGGACAG -3'
(R):5'- CATGTCTCCACTAGTTGC -3'
Posted On 2015-06-24