Incidental Mutation 'R1292:Pcdhb13'
ID 150830
Institutional Source Beutler Lab
Gene Symbol Pcdhb13
Ensembl Gene ENSMUSG00000047307
Gene Name protocadherin beta 13
Synonyms PcdhbM, Pcdbh6
MMRRC Submission 039358-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.122) question?
Stock # R1292 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 37575570-37579262 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 37576885 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 421 (V421A)
Ref Sequence ENSEMBL: ENSMUSP00000061087 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052387] [ENSMUST00000056915] [ENSMUST00000115661] [ENSMUST00000194544]
AlphaFold Q91Y06
Predicted Effect probably benign
Transcript: ENSMUST00000052387
SMART Domains Protein: ENSMUSP00000054111
Gene: ENSMUSG00000044043

DomainStartEndE-ValueType
Pfam:Cadherin_2 30 112 1.4e-35 PFAM
CA 155 240 1.53e-20 SMART
CA 264 345 3.52e-29 SMART
CA 368 449 2.24e-22 SMART
CA 473 559 2.38e-26 SMART
CA 589 670 4.12e-12 SMART
Pfam:Cadherin_C_2 685 768 4.9e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000056915
AA Change: V421A

PolyPhen 2 Score 0.434 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000061087
Gene: ENSMUSG00000047307
AA Change: V421A

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
CA 58 130 5.5e-1 SMART
CA 154 239 8.55e-19 SMART
CA 263 343 3.36e-26 SMART
CA 366 447 2.24e-22 SMART
CA 471 557 1.08e-24 SMART
CA 587 668 1.25e-11 SMART
Pfam:Cadherin_C_2 685 768 2.4e-23 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 0.2662 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency 97% (31/32)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. Unlike the alpha and gamma clusters, the transcripts from these genes do not share common 3' exons. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell neural connections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930550C14Rik T A 9: 53,336,919 (GRCm39) D74E probably benign Het
Abcb1a A T 5: 8,763,343 (GRCm39) T624S probably benign Het
Atp8b1 T C 18: 64,704,092 (GRCm39) Y342C probably damaging Het
Clcnka A G 4: 141,122,903 (GRCm39) probably benign Het
Cma2 C T 14: 56,211,199 (GRCm39) R164C probably damaging Het
Cnga1 T C 5: 72,762,026 (GRCm39) D496G probably damaging Het
Ctbp2 T A 7: 132,616,918 (GRCm39) R6W probably damaging Het
Cyp3a11 T C 5: 145,802,804 (GRCm39) T230A probably benign Het
Defb40 A C 8: 19,028,080 (GRCm39) I18S probably benign Het
Fcgbpl1 A C 7: 27,842,219 (GRCm39) probably benign Het
Gm10036 T G 18: 15,966,368 (GRCm39) I173S possibly damaging Het
Herc2 A T 7: 55,846,951 (GRCm39) I3634L probably benign Het
Igfbp1 A G 11: 7,150,863 (GRCm39) N218S probably damaging Het
Jag1 C G 2: 136,925,393 (GRCm39) V1070L possibly damaging Het
Kmt2a A T 9: 44,725,991 (GRCm39) probably benign Het
Ly9 T C 1: 171,416,671 (GRCm39) probably null Het
Mmut C A 17: 41,252,298 (GRCm39) A280E probably damaging Het
Or5k16 C T 16: 58,736,134 (GRCm39) R290K probably damaging Het
Or6k6 A G 1: 173,945,420 (GRCm39) F54S probably benign Het
Pik3ca T A 3: 32,508,569 (GRCm39) L779Q probably damaging Het
Plxnd1 T C 6: 115,939,644 (GRCm39) probably benign Het
Prss16 T A 13: 22,193,691 (GRCm39) K35* probably null Het
Rhbdl2 G A 4: 123,723,435 (GRCm39) A280T possibly damaging Het
Slc2a2 C T 3: 28,771,637 (GRCm39) T189I probably damaging Het
Srsf6 C T 2: 162,776,403 (GRCm39) probably benign Het
Tacr1 A G 6: 82,531,856 (GRCm39) I251V probably damaging Het
Tln1 A G 4: 43,534,578 (GRCm39) probably null Het
Vdac3-ps1 T C 13: 18,205,880 (GRCm39) noncoding transcript Het
Zfp458 A T 13: 67,404,754 (GRCm39) C562S probably damaging Het
Other mutations in Pcdhb13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00654:Pcdhb13 APN 18 37,576,774 (GRCm39) missense possibly damaging 0.56
IGL00718:Pcdhb13 APN 18 37,577,874 (GRCm39) missense possibly damaging 0.91
IGL01143:Pcdhb13 APN 18 37,575,690 (GRCm39) missense probably benign 0.01
IGL01816:Pcdhb13 APN 18 37,576,028 (GRCm39) missense probably benign 0.00
IGL01916:Pcdhb13 APN 18 37,576,914 (GRCm39) missense possibly damaging 0.64
IGL02063:Pcdhb13 APN 18 37,577,282 (GRCm39) missense probably damaging 1.00
IGL02153:Pcdhb13 APN 18 37,576,738 (GRCm39) missense probably damaging 1.00
IGL02332:Pcdhb13 APN 18 37,576,635 (GRCm39) missense probably benign 0.32
IGL02407:Pcdhb13 APN 18 37,576,128 (GRCm39) missense probably damaging 1.00
IGL02423:Pcdhb13 APN 18 37,577,392 (GRCm39) missense possibly damaging 0.95
IGL02514:Pcdhb13 APN 18 37,576,044 (GRCm39) missense possibly damaging 0.80
IGL03025:Pcdhb13 APN 18 37,575,817 (GRCm39) missense probably damaging 1.00
IGL03227:Pcdhb13 APN 18 37,576,711 (GRCm39) missense probably damaging 0.98
IGL03233:Pcdhb13 APN 18 37,577,318 (GRCm39) missense probably damaging 0.96
IGL03239:Pcdhb13 APN 18 37,575,888 (GRCm39) missense probably damaging 0.97
R0046:Pcdhb13 UTSW 18 37,577,310 (GRCm39) missense probably benign
R0172:Pcdhb13 UTSW 18 37,575,990 (GRCm39) missense probably benign 0.00
R0201:Pcdhb13 UTSW 18 37,575,634 (GRCm39) missense probably benign
R0594:Pcdhb13 UTSW 18 37,576,984 (GRCm39) missense probably damaging 1.00
R1235:Pcdhb13 UTSW 18 37,578,012 (GRCm39) makesense probably null
R1481:Pcdhb13 UTSW 18 37,575,889 (GRCm39) missense probably damaging 1.00
R1991:Pcdhb13 UTSW 18 37,576,912 (GRCm39) missense possibly damaging 0.80
R2058:Pcdhb13 UTSW 18 37,577,620 (GRCm39) missense possibly damaging 0.95
R3508:Pcdhb13 UTSW 18 37,576,204 (GRCm39) missense probably damaging 0.99
R3713:Pcdhb13 UTSW 18 37,576,786 (GRCm39) missense probably damaging 1.00
R4125:Pcdhb13 UTSW 18 37,576,873 (GRCm39) missense probably damaging 1.00
R4741:Pcdhb13 UTSW 18 37,576,571 (GRCm39) missense probably benign 0.01
R4747:Pcdhb13 UTSW 18 37,577,868 (GRCm39) missense probably damaging 0.99
R4957:Pcdhb13 UTSW 18 37,577,837 (GRCm39) missense possibly damaging 0.95
R4973:Pcdhb13 UTSW 18 37,576,237 (GRCm39) missense probably benign 0.20
R5354:Pcdhb13 UTSW 18 37,577,844 (GRCm39) missense probably damaging 1.00
R5364:Pcdhb13 UTSW 18 37,576,561 (GRCm39) missense probably damaging 1.00
R5544:Pcdhb13 UTSW 18 37,576,573 (GRCm39) missense possibly damaging 0.92
R5897:Pcdhb13 UTSW 18 37,576,264 (GRCm39) missense probably benign 0.42
R6174:Pcdhb13 UTSW 18 37,576,474 (GRCm39) missense possibly damaging 0.84
R6702:Pcdhb13 UTSW 18 37,577,828 (GRCm39) missense probably benign 0.42
R6765:Pcdhb13 UTSW 18 37,576,663 (GRCm39) missense probably damaging 1.00
R6960:Pcdhb13 UTSW 18 37,576,509 (GRCm39) missense probably benign 0.45
R7144:Pcdhb13 UTSW 18 37,576,309 (GRCm39) missense probably damaging 1.00
R7225:Pcdhb13 UTSW 18 37,577,490 (GRCm39) missense possibly damaging 0.91
R7239:Pcdhb13 UTSW 18 37,577,697 (GRCm39) missense probably damaging 0.99
R7437:Pcdhb13 UTSW 18 37,577,728 (GRCm39) missense probably damaging 1.00
R7812:Pcdhb13 UTSW 18 37,575,645 (GRCm39) missense probably benign 0.00
R7964:Pcdhb13 UTSW 18 37,577,871 (GRCm39) missense possibly damaging 0.62
R8334:Pcdhb13 UTSW 18 37,577,853 (GRCm39) missense probably damaging 1.00
R8463:Pcdhb13 UTSW 18 37,576,287 (GRCm39) missense possibly damaging 0.94
R8476:Pcdhb13 UTSW 18 37,577,137 (GRCm39) missense probably damaging 1.00
R8501:Pcdhb13 UTSW 18 37,577,493 (GRCm39) missense probably damaging 1.00
R9248:Pcdhb13 UTSW 18 37,577,608 (GRCm39) missense probably damaging 1.00
R9569:Pcdhb13 UTSW 18 37,576,153 (GRCm39) missense probably damaging 1.00
X0023:Pcdhb13 UTSW 18 37,576,066 (GRCm39) missense probably damaging 1.00
X0028:Pcdhb13 UTSW 18 37,577,695 (GRCm39) missense possibly damaging 0.91
Z1176:Pcdhb13 UTSW 18 37,576,288 (GRCm39) nonsense probably null
Z1177:Pcdhb13 UTSW 18 37,575,633 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- ACGCTCCAGAAGTGATCCTATCCTC -3'
(R):5'- CCTGAATCTGAGTCTGTGGCACTG -3'

Sequencing Primer
(F):5'- CCAGGTATCATAGTGGCAGTATTCAG -3'
(R):5'- CACTGATGGTGCCTATGTGC -3'
Posted On 2014-01-29