Incidental Mutation 'IGL01319:Pcdhb4'
ID 73963
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pcdhb4
Ensembl Gene ENSMUSG00000045689
Gene Name protocadherin beta 4
Synonyms PcdhbD, Pcdhb5A
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # IGL01319
Quality Score
Status
Chromosome 18
Chromosomal Location 37440508-37444225 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 37441566 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 292 (V292A)
Ref Sequence ENSEMBL: ENSMUSP00000059770 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051754] [ENSMUST00000056712] [ENSMUST00000115661] [ENSMUST00000194544]
AlphaFold Q91XZ6
Predicted Effect probably benign
Transcript: ENSMUST00000051754
SMART Domains Protein: ENSMUSP00000059180
Gene: ENSMUSG00000045498

DomainStartEndE-ValueType
low complexity region 14 28 N/A INTRINSIC
CA 44 131 6.29e-1 SMART
CA 155 240 7.16e-21 SMART
CA 264 345 1.22e-23 SMART
CA 368 449 2.86e-20 SMART
CA 473 559 2.55e-26 SMART
CA 589 670 1.11e-8 SMART
Pfam:Cadherin_C_2 687 770 9.9e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000056712
AA Change: V292A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000059770
Gene: ENSMUSG00000045689
AA Change: V292A

DomainStartEndE-ValueType
CA 54 131 1.66e0 SMART
CA 155 240 1.07e-19 SMART
CA 264 344 6.03e-28 SMART
CA 367 448 2.57e-22 SMART
CA 472 558 3.36e-26 SMART
CA 588 669 3.48e-10 SMART
Pfam:Cadherin_C_2 685 768 1e-25 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 noncoding transcript
Transcript: ENSMUST00000193025
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd18 T A 3: 40,888,077 (GRCm39) V307E probably benign Het
Bub1b T C 2: 118,445,475 (GRCm39) I265T possibly damaging Het
Cemip2 C T 19: 21,822,121 (GRCm39) P1172L possibly damaging Het
Cntnap3 G A 13: 64,935,651 (GRCm39) T404I probably damaging Het
Disc1 T C 8: 125,814,630 (GRCm39) S165P probably damaging Het
Dock1 T C 7: 134,391,007 (GRCm39) F756L probably benign Het
Dock2 A G 11: 34,589,617 (GRCm39) V480A possibly damaging Het
Drc3 A G 11: 60,255,788 (GRCm39) D125G probably null Het
Emid1 C T 11: 5,093,859 (GRCm39) C96Y probably damaging Het
F13b A G 1: 139,434,531 (GRCm39) N99S probably damaging Het
Fam20a A G 11: 109,569,284 (GRCm39) probably benign Het
Fancd2 C A 6: 113,561,860 (GRCm39) T1243K probably damaging Het
Fbxw14 T C 9: 109,107,859 (GRCm39) K172E probably damaging Het
Gm13941 T C 2: 110,925,150 (GRCm39) probably null Het
Gtpbp4 A T 13: 9,035,296 (GRCm39) N354K probably benign Het
Igkv2-116 T C 6: 68,129,388 (GRCm39) L50P probably benign Het
Klrb1-ps1 C T 6: 129,093,548 (GRCm39) P23L possibly damaging Het
Kng2 T A 16: 22,847,584 (GRCm39) I26F probably damaging Het
Krt81 G A 15: 101,361,269 (GRCm39) H104Y probably benign Het
Lrpprc T C 17: 85,012,840 (GRCm39) probably benign Het
Man2a2 C T 7: 80,010,880 (GRCm39) V704M possibly damaging Het
Mbip A G 12: 56,377,027 (GRCm39) V303A probably benign Het
Mipep A T 14: 61,080,720 (GRCm39) M571L probably benign Het
Ncan A T 8: 70,550,212 (GRCm39) V1188D probably damaging Het
Pkd1 T C 17: 24,806,893 (GRCm39) probably benign Het
Ppp2r2c T A 5: 37,104,465 (GRCm39) S282T possibly damaging Het
Rad54l2 C T 9: 106,596,245 (GRCm39) G231D probably benign Het
Rnf20 T G 4: 49,649,326 (GRCm39) D443E probably damaging Het
Rptor A G 11: 119,781,996 (GRCm39) M1108V probably benign Het
Serpine2 A G 1: 79,788,411 (GRCm39) V182A probably damaging Het
Sesn2 C T 4: 132,227,278 (GRCm39) probably benign Het
Shank1 C A 7: 44,002,547 (GRCm39) A1422E possibly damaging Het
Skic3 A G 13: 76,277,498 (GRCm39) H491R probably benign Het
Slc13a4 C T 6: 35,284,288 (GRCm39) probably null Het
Snrnp200 T C 2: 127,072,047 (GRCm39) probably benign Het
Src G A 2: 157,311,423 (GRCm39) G461R probably damaging Het
Tbxas1 A G 6: 38,994,907 (GRCm39) I178V probably benign Het
Triml1 A G 8: 43,594,434 (GRCm39) probably benign Het
Tsen2 A T 6: 115,553,945 (GRCm39) Q441L probably damaging Het
Ttc23l A G 15: 10,509,492 (GRCm39) probably benign Het
Ttn T C 2: 76,711,648 (GRCm39) probably benign Het
Vsig10l C T 7: 43,114,678 (GRCm39) S293L probably damaging Het
Zcchc13 C A X: 102,674,606 (GRCm39) Q110K possibly damaging Het
Other mutations in Pcdhb4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00490:Pcdhb4 APN 18 37,442,969 (GRCm39) missense possibly damaging 0.68
IGL01325:Pcdhb4 APN 18 37,442,676 (GRCm39) missense probably damaging 1.00
IGL01608:Pcdhb4 APN 18 37,441,803 (GRCm39) missense probably damaging 1.00
IGL01808:Pcdhb4 APN 18 37,442,067 (GRCm39) missense probably damaging 1.00
IGL01962:Pcdhb4 APN 18 37,442,057 (GRCm39) missense possibly damaging 0.90
IGL02280:Pcdhb4 APN 18 37,440,735 (GRCm39) missense probably benign 0.00
IGL02622:Pcdhb4 APN 18 37,442,721 (GRCm39) missense probably benign 0.00
IGL03025:Pcdhb4 APN 18 37,443,030 (GRCm39) missense possibly damaging 0.62
IGL03137:Pcdhb4 APN 18 37,441,569 (GRCm39) missense probably damaging 0.98
P0031:Pcdhb4 UTSW 18 37,441,938 (GRCm39) missense probably damaging 1.00
R0385:Pcdhb4 UTSW 18 37,442,268 (GRCm39) missense probably damaging 1.00
R0611:Pcdhb4 UTSW 18 37,441,263 (GRCm39) missense probably damaging 1.00
R0671:Pcdhb4 UTSW 18 37,440,795 (GRCm39) missense probably benign 0.01
R0738:Pcdhb4 UTSW 18 37,441,764 (GRCm39) missense probably damaging 1.00
R0853:Pcdhb4 UTSW 18 37,442,938 (GRCm39) nonsense probably null
R0893:Pcdhb4 UTSW 18 37,442,423 (GRCm39) splice site probably null
R1932:Pcdhb4 UTSW 18 37,442,594 (GRCm39) missense probably benign 0.33
R1945:Pcdhb4 UTSW 18 37,441,921 (GRCm39) missense probably damaging 1.00
R2194:Pcdhb4 UTSW 18 37,441,788 (GRCm39) missense probably damaging 1.00
R2273:Pcdhb4 UTSW 18 37,441,979 (GRCm39) missense probably damaging 1.00
R3807:Pcdhb4 UTSW 18 37,442,367 (GRCm39) missense probably damaging 0.98
R3815:Pcdhb4 UTSW 18 37,441,065 (GRCm39) missense probably damaging 1.00
R3816:Pcdhb4 UTSW 18 37,441,065 (GRCm39) missense probably damaging 1.00
R3974:Pcdhb4 UTSW 18 37,441,901 (GRCm39) missense possibly damaging 0.55
R4558:Pcdhb4 UTSW 18 37,443,017 (GRCm39) missense probably benign
R4606:Pcdhb4 UTSW 18 37,441,705 (GRCm39) missense probably damaging 1.00
R4615:Pcdhb4 UTSW 18 37,441,553 (GRCm39) missense probably benign 0.02
R4840:Pcdhb4 UTSW 18 37,441,452 (GRCm39) missense possibly damaging 0.60
R5240:Pcdhb4 UTSW 18 37,442,979 (GRCm39) missense possibly damaging 0.78
R5272:Pcdhb4 UTSW 18 37,440,819 (GRCm39) missense probably benign 0.04
R5586:Pcdhb4 UTSW 18 37,442,034 (GRCm39) missense probably damaging 1.00
R5683:Pcdhb4 UTSW 18 37,442,042 (GRCm39) missense probably benign 0.45
R5917:Pcdhb4 UTSW 18 37,442,619 (GRCm39) missense probably damaging 1.00
R6110:Pcdhb4 UTSW 18 37,441,482 (GRCm39) missense possibly damaging 0.80
R6383:Pcdhb4 UTSW 18 37,441,074 (GRCm39) missense probably damaging 1.00
R6877:Pcdhb4 UTSW 18 37,442,625 (GRCm39) missense probably damaging 1.00
R7036:Pcdhb4 UTSW 18 37,441,835 (GRCm39) missense possibly damaging 0.95
R7204:Pcdhb4 UTSW 18 37,442,292 (GRCm39) missense probably damaging 1.00
R7271:Pcdhb4 UTSW 18 37,441,222 (GRCm39) missense possibly damaging 0.89
R7436:Pcdhb4 UTSW 18 37,442,328 (GRCm39) missense probably damaging 1.00
R7444:Pcdhb4 UTSW 18 37,442,505 (GRCm39) missense probably damaging 1.00
R7614:Pcdhb4 UTSW 18 37,442,602 (GRCm39) missense probably benign 0.40
R7650:Pcdhb4 UTSW 18 37,442,667 (GRCm39) missense probably damaging 1.00
R7664:Pcdhb4 UTSW 18 37,442,293 (GRCm39) missense probably damaging 1.00
R8080:Pcdhb4 UTSW 18 37,442,349 (GRCm39) missense probably benign 0.42
R8087:Pcdhb4 UTSW 18 37,441,717 (GRCm39) missense probably damaging 1.00
R8115:Pcdhb4 UTSW 18 37,442,453 (GRCm39) missense probably damaging 0.99
R8697:Pcdhb4 UTSW 18 37,441,832 (GRCm39) missense probably benign 0.15
R8815:Pcdhb4 UTSW 18 37,442,055 (GRCm39) missense probably damaging 1.00
R9008:Pcdhb4 UTSW 18 37,440,714 (GRCm39) missense probably benign
R9225:Pcdhb4 UTSW 18 37,441,695 (GRCm39) missense possibly damaging 0.68
R9278:Pcdhb4 UTSW 18 37,441,925 (GRCm39) missense possibly damaging 0.61
R9299:Pcdhb4 UTSW 18 37,442,264 (GRCm39) missense probably benign 0.02
R9390:Pcdhb4 UTSW 18 37,442,781 (GRCm39) missense possibly damaging 0.80
R9582:Pcdhb4 UTSW 18 37,441,417 (GRCm39) missense probably damaging 1.00
R9686:Pcdhb4 UTSW 18 37,442,943 (GRCm39) missense probably damaging 0.98
R9721:Pcdhb4 UTSW 18 37,442,905 (GRCm39) missense possibly damaging 0.70
Z1177:Pcdhb4 UTSW 18 37,442,966 (GRCm39) missense probably benign 0.02
Posted On 2013-10-07