Incidental Mutation 'R9299:Pcdhb4'
ID 704818
Institutional Source Beutler Lab
Gene Symbol Pcdhb4
Ensembl Gene ENSMUSG00000045689
Gene Name protocadherin beta 4
Synonyms PcdhbD, Pcdhb5A
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R9299 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 37440508-37444225 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 37442264 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 525 (A525T)
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: A525T

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000059770
Gene: ENSMUSG00000045689
AA Change: A525T

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 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: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (60/60)
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik G T 9: 57,163,792 (GRCm39) R861S possibly damaging Het
Abca12 T A 1: 71,359,042 (GRCm39) N588I possibly damaging Het
Adamts9 A G 6: 92,773,976 (GRCm39) Y1727H probably benign Het
Ahnak G A 19: 8,989,824 (GRCm39) probably benign Het
Alad C T 4: 62,429,760 (GRCm39) probably null Het
Anapc15-ps C A 10: 95,509,077 (GRCm39) D68Y probably damaging Het
Arhgap45 T C 10: 79,862,565 (GRCm39) S645P possibly damaging Het
Atp9a A T 2: 168,554,666 (GRCm39) M1K probably null Het
B020004C17Rik A T 14: 57,254,230 (GRCm39) I118F probably damaging Het
Capn13 T A 17: 73,633,467 (GRCm39) probably null Het
Ccdc7a T C 8: 129,616,319 (GRCm39) Q928R probably benign Het
Cdc42bpa C A 1: 179,972,073 (GRCm39) L1292I probably damaging Het
Clec2e A C 6: 129,072,092 (GRCm39) F96V probably benign Het
Cmklr1 G C 5: 113,752,043 (GRCm39) H319Q probably benign Het
Cnot1 T C 8: 96,468,448 (GRCm39) I1460M probably damaging Het
Cyc1 T C 15: 76,228,506 (GRCm39) V45A probably benign Het
Cyp4a10 A G 4: 115,376,947 (GRCm39) M104V probably benign Het
Cyth1 C T 11: 118,059,837 (GRCm39) probably benign Het
Dnhd1 T A 7: 105,369,806 (GRCm39) N4410K probably benign Het
Dok4 T A 8: 95,593,469 (GRCm39) T106S probably benign Het
Dpcd C A 19: 45,566,009 (GRCm39) Q203K probably damaging Het
Dph1 T A 11: 75,070,622 (GRCm39) Q339L possibly damaging Het
Dpy19l3 G T 7: 35,424,752 (GRCm39) S187* probably null Het
Eva1a G T 6: 82,069,047 (GRCm39) A125S probably damaging Het
Fam24b T A 7: 130,927,949 (GRCm39) Y80F probably benign Het
Frem2 T C 3: 53,563,980 (GRCm39) T176A probably benign Het
Gal3st3 A T 19: 5,356,868 (GRCm39) N81I probably damaging Het
Gm12888 G A 4: 121,182,044 (GRCm39) S16F unknown Het
Hsf5 T A 11: 87,526,770 (GRCm39) C481S probably benign Het
Ifi211 T A 1: 173,735,288 (GRCm39) Q47L probably damaging Het
Il17re A T 6: 113,440,971 (GRCm39) M202L probably benign Het
Krtap5-3 T A 7: 141,756,267 (GRCm39) H175Q unknown Het
Ksr2 G A 5: 117,885,399 (GRCm39) probably null Het
Lrtm1 C T 14: 28,743,714 (GRCm39) P61S probably damaging Het
Ltk A T 2: 119,584,721 (GRCm39) S487R possibly damaging Het
Mis18bp1 A T 12: 65,185,538 (GRCm39) D876E possibly damaging Het
Nalf1 T C 8: 9,820,156 (GRCm39) Y288C probably damaging Het
Or8b39 A G 9: 37,996,785 (GRCm39) T218A probably benign Het
Paqr7 A G 4: 134,234,311 (GRCm39) N56S probably benign Het
Pcdhb22 G T 18: 37,651,885 (GRCm39) E118* probably null Het
Pik3cb A G 9: 98,943,844 (GRCm39) F653S probably damaging Het
Pla2g4e T A 2: 120,002,204 (GRCm39) D617V probably damaging Het
Plekha1 T A 7: 130,511,348 (GRCm39) C311S possibly damaging Het
Poteg A G 8: 27,940,287 (GRCm39) Y156C probably benign Het
Rev3l T C 10: 39,723,999 (GRCm39) S2644P probably damaging Het
Rnf40 T A 7: 127,188,172 (GRCm39) S2T probably benign Het
Rrp8 T C 7: 105,383,384 (GRCm39) D294G probably damaging Het
Slc6a21 T C 7: 44,937,130 (GRCm39) V252A Het
Slx9 C A 10: 77,351,535 (GRCm39) A14S possibly damaging Het
Socs1 T C 16: 10,602,578 (GRCm39) D53G possibly damaging Het
St6galnac6 G T 2: 32,502,345 (GRCm39) R78L probably benign Het
Tbce T C 13: 14,194,398 (GRCm39) K87R probably benign Het
Tep1 T C 14: 51,081,988 (GRCm39) probably benign Het
Thada T C 17: 84,749,205 (GRCm39) M589V probably benign Het
Thsd7a A G 6: 12,504,131 (GRCm39) F341S Het
Tmem82 A T 4: 141,343,861 (GRCm39) C136* probably null Het
Tmprss11a A T 5: 86,570,361 (GRCm39) C199* probably null Het
Zbtb48 T C 4: 152,105,147 (GRCm39) N505S possibly damaging Het
Zfp385b A T 2: 77,246,115 (GRCm39) V304E probably damaging Het
Other mutations in Pcdhb4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00490:Pcdhb4 APN 18 37,442,969 (GRCm39) missense possibly damaging 0.68
IGL01319:Pcdhb4 APN 18 37,441,566 (GRCm39) missense probably benign
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
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
Predicted Primers PCR Primer
(F):5'- TGCACATAGGCACCATCAG -3'
(R):5'- ATGACAGCCAGGCATTCTG -3'

Sequencing Primer
(F):5'- GTGCCACAGACTCAGACTCG -3'
(R):5'- AGGCATTCTGACCAGAGTCG -3'
Posted On 2022-03-25