Incidental Mutation 'R3949:Pcdhb7'
ID 307841
Institutional Source Beutler Lab
Gene Symbol Pcdhb7
Ensembl Gene ENSMUSG00000045062
Gene Name protocadherin beta 7
Synonyms PcdhbG, Pcdhb4B
MMRRC Submission 040929-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # R3949 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 37474755-37478255 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 37476141 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 426 (S426P)
Ref Sequence ENSEMBL: ENSMUSP00000051041 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053037] [ENSMUST00000115661] [ENSMUST00000194544]
AlphaFold Q8CDY9
Predicted Effect probably benign
Transcript: ENSMUST00000053037
AA Change: S426P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000051041
Gene: ENSMUSG00000045062
AA Change: S426P

DomainStartEndE-ValueType
Pfam:Cadherin_2 61 143 1.4e-32 PFAM
CA 186 271 5.47e-17 SMART
CA 295 376 4.43e-26 SMART
CA 399 480 1.04e-22 SMART
CA 504 590 2.12e-23 SMART
CA 620 701 5.73e-11 SMART
Pfam:Cadherin_C_2 718 801 5.5e-26 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 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 100% (47/47)
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adarb2 A T 13: 8,620,455 (GRCm39) M314L probably damaging Het
Apcs A G 1: 172,722,259 (GRCm39) F29S probably damaging Het
Arfgef1 CAGAG CAG 1: 10,212,811 (GRCm39) probably null Het
Avl9 T C 6: 56,705,650 (GRCm39) probably null Het
Ccdc38 A G 10: 93,386,081 (GRCm39) M66V probably damaging Het
Cfap46 T C 7: 139,258,467 (GRCm39) K269E probably benign Het
Chrdl2 A C 7: 99,678,412 (GRCm39) E328A possibly damaging Het
D430041D05Rik T C 2: 104,087,713 (GRCm39) N421S probably benign Het
Dbndd1 G T 8: 124,233,473 (GRCm39) Q207K probably benign Het
Disc1 A G 8: 125,814,874 (GRCm39) E246G probably damaging Het
Dyrk4 A G 6: 126,862,268 (GRCm39) I408T probably damaging Het
Entpd7 G A 19: 43,679,597 (GRCm39) R50Q probably benign Het
Fan1 C A 7: 64,021,292 (GRCm39) E591* probably null Het
Fpr1 C A 17: 18,097,191 (GRCm39) C266F probably benign Het
Gata4 C T 14: 63,478,146 (GRCm39) R151H possibly damaging Het
Gipr T C 7: 18,891,354 (GRCm39) N441S probably benign Het
Ino80d G T 1: 63,113,662 (GRCm39) Q263K probably benign Het
Ipo13 A G 4: 117,758,239 (GRCm39) I708T probably benign Het
Iqsec3 A T 6: 121,364,783 (GRCm39) Y835* probably null Het
Kctd8 C T 5: 69,498,617 (GRCm39) G10S probably benign Het
Lamb1 A C 12: 31,332,648 (GRCm39) K257Q probably damaging Het
Lcp1 A G 14: 75,443,569 (GRCm39) N195S possibly damaging Het
Or4k48 A T 2: 111,475,871 (GRCm39) I157K possibly damaging Het
Or5b121 T C 19: 13,507,384 (GRCm39) S160P probably damaging Het
Paxbp1 T C 16: 90,840,905 (GRCm39) D113G probably damaging Het
Pcnx4 A G 12: 72,603,076 (GRCm39) D446G probably benign Het
Pkd1 T A 17: 24,797,011 (GRCm39) probably benign Het
Pld2 A G 11: 70,444,180 (GRCm39) D492G probably benign Het
Ranbp17 G A 11: 33,429,189 (GRCm39) A352V probably benign Het
Rasgrf1 A C 9: 89,863,797 (GRCm39) probably benign Het
Ryr3 C G 2: 112,506,218 (GRCm39) R3443P probably damaging Het
Serpinb10 T A 1: 107,468,636 (GRCm39) L170H probably damaging Het
Sfxn4 A G 19: 60,840,501 (GRCm39) Y165H probably damaging Het
Slc32a1 C T 2: 158,453,152 (GRCm39) probably benign Het
Slco5a1 A T 1: 13,059,833 (GRCm39) V296D probably damaging Het
Syn2 T A 6: 115,204,290 (GRCm39) probably null Het
Tbx2 C T 11: 85,729,101 (GRCm39) Q495* probably null Het
Trav6-1 G A 14: 52,875,993 (GRCm39) V8M probably benign Het
Usp7 A T 16: 8,534,428 (GRCm39) N46K probably damaging Het
Vmn2r58 A T 7: 41,513,348 (GRCm39) F432I probably benign Het
Vmn2r99 T C 17: 19,599,252 (GRCm39) M312T probably benign Het
Washc2 T C 6: 116,185,165 (GRCm39) probably benign Het
Yju2b A G 8: 84,985,453 (GRCm39) V272A probably benign Het
Other mutations in Pcdhb7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01668:Pcdhb7 APN 18 37,476,205 (GRCm39) missense probably benign 0.35
IGL01806:Pcdhb7 APN 18 37,475,548 (GRCm39) missense possibly damaging 0.60
IGL01862:Pcdhb7 APN 18 37,476,915 (GRCm39) missense possibly damaging 0.81
IGL01961:Pcdhb7 APN 18 37,475,526 (GRCm39) missense probably damaging 1.00
R0184:Pcdhb7 UTSW 18 37,476,443 (GRCm39) missense probably benign 0.44
R0426:Pcdhb7 UTSW 18 37,475,857 (GRCm39) missense probably damaging 0.99
R0576:Pcdhb7 UTSW 18 37,475,410 (GRCm39) missense probably benign 0.01
R0646:Pcdhb7 UTSW 18 37,476,442 (GRCm39) missense probably damaging 1.00
R0656:Pcdhb7 UTSW 18 37,474,954 (GRCm39) missense probably benign 0.01
R1216:Pcdhb7 UTSW 18 37,476,927 (GRCm39) missense probably damaging 0.99
R1851:Pcdhb7 UTSW 18 37,475,631 (GRCm39) missense possibly damaging 0.69
R2168:Pcdhb7 UTSW 18 37,476,335 (GRCm39) missense probably benign 0.05
R2312:Pcdhb7 UTSW 18 37,475,250 (GRCm39) missense probably benign
R3153:Pcdhb7 UTSW 18 37,476,126 (GRCm39) missense probably damaging 1.00
R3758:Pcdhb7 UTSW 18 37,476,079 (GRCm39) missense possibly damaging 0.84
R3763:Pcdhb7 UTSW 18 37,474,936 (GRCm39) missense probably benign
R3940:Pcdhb7 UTSW 18 37,477,021 (GRCm39) missense probably damaging 1.00
R4418:Pcdhb7 UTSW 18 37,476,535 (GRCm39) missense probably benign 0.08
R4580:Pcdhb7 UTSW 18 37,475,188 (GRCm39) missense probably damaging 1.00
R4880:Pcdhb7 UTSW 18 37,475,284 (GRCm39) missense probably benign 0.00
R4936:Pcdhb7 UTSW 18 37,475,203 (GRCm39) missense probably damaging 1.00
R4936:Pcdhb7 UTSW 18 37,475,202 (GRCm39) nonsense probably null
R5086:Pcdhb7 UTSW 18 37,476,162 (GRCm39) missense possibly damaging 0.56
R5517:Pcdhb7 UTSW 18 37,474,846 (GRCm39) intron probably benign
R5570:Pcdhb7 UTSW 18 37,477,224 (GRCm39) missense probably benign 0.35
R5827:Pcdhb7 UTSW 18 37,475,077 (GRCm39) missense probably benign 0.14
R6187:Pcdhb7 UTSW 18 37,475,622 (GRCm39) missense probably benign 0.23
R6194:Pcdhb7 UTSW 18 37,475,199 (GRCm39) missense probably damaging 0.98
R6195:Pcdhb7 UTSW 18 37,475,709 (GRCm39) missense probably benign 0.33
R6373:Pcdhb7 UTSW 18 37,475,264 (GRCm39) nonsense probably null
R6398:Pcdhb7 UTSW 18 37,476,487 (GRCm39) missense possibly damaging 0.86
R6437:Pcdhb7 UTSW 18 37,475,743 (GRCm39) missense probably damaging 0.96
R6587:Pcdhb7 UTSW 18 37,477,156 (GRCm39) missense probably benign
R6596:Pcdhb7 UTSW 18 37,476,414 (GRCm39) missense probably damaging 0.97
R6646:Pcdhb7 UTSW 18 37,477,027 (GRCm39) missense possibly damaging 0.90
R6702:Pcdhb7 UTSW 18 37,474,959 (GRCm39) missense probably benign 0.03
R6923:Pcdhb7 UTSW 18 37,475,522 (GRCm39) splice site probably null
R6976:Pcdhb7 UTSW 18 37,476,631 (GRCm39) missense probably benign 0.12
R7038:Pcdhb7 UTSW 18 37,475,257 (GRCm39) missense possibly damaging 0.90
R7325:Pcdhb7 UTSW 18 37,476,440 (GRCm39) missense probably benign 0.00
R7509:Pcdhb7 UTSW 18 37,475,074 (GRCm39) missense possibly damaging 0.68
R7598:Pcdhb7 UTSW 18 37,475,833 (GRCm39) missense probably damaging 1.00
R7622:Pcdhb7 UTSW 18 37,475,514 (GRCm39) missense probably benign 0.06
R7828:Pcdhb7 UTSW 18 37,476,915 (GRCm39) missense probably damaging 1.00
R9598:Pcdhb7 UTSW 18 37,475,434 (GRCm39) missense probably damaging 1.00
Z1177:Pcdhb7 UTSW 18 37,476,261 (GRCm39) missense probably benign 0.12
Predicted Primers PCR Primer
(F):5'- TGTGAACGACAATGCCCCAG -3'
(R):5'- CTGATGGTGCCTATGTGCAG -3'

Sequencing Primer
(F):5'- AGAGCTGACCATATCTTCACTG -3'
(R):5'- TTTTCGCGGACAAACATGG -3'
Posted On 2015-04-17