Incidental Mutation 'R1481:Pcdhb13'
ID 164411
Institutional Source Beutler Lab
Gene Symbol Pcdhb13
Ensembl Gene ENSMUSG00000047307
Gene Name protocadherin beta 13
Synonyms PcdhbM, Pcdbh6
MMRRC Submission 039534-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.122) question?
Stock # R1481 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 37575570-37579262 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 37575889 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 89 (L89Q)
Ref Sequence ENSEMBL: ENSMUSP00000061087 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052387] [ENSMUST00000055495] [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: ENSMUST00000055495
SMART Domains Protein: ENSMUSP00000050357
Gene: ENSMUSG00000043458

DomainStartEndE-ValueType
CA 53 130 1.67e-1 SMART
CA 154 239 3.69e-23 SMART
CA 263 343 6.56e-29 SMART
CA 366 447 5.9e-22 SMART
CA 471 557 4.24e-23 SMART
CA 587 668 1.01e-11 SMART
Pfam:Cadherin_C_2 685 768 4.8e-26 PFAM
low complexity region 778 790 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000056915
AA Change: L89Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000061087
Gene: ENSMUSG00000047307
AA Change: L89Q

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 0.4274 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.6%
Validation Efficiency 100% (71/71)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef5 A G 6: 43,251,568 (GRCm39) H773R probably damaging Het
Bltp1 T C 3: 37,062,583 (GRCm39) V3365A probably damaging Het
Bmp3 G A 5: 99,020,329 (GRCm39) V251M probably damaging Het
Ccdc175 C A 12: 72,148,722 (GRCm39) probably benign Het
Ccdc178 C T 18: 22,238,678 (GRCm39) G313D probably benign Het
Cd300ld2 T A 11: 114,903,459 (GRCm39) I129F probably benign Het
Cep170 T C 1: 176,609,951 (GRCm39) Q120R possibly damaging Het
Ckb T C 12: 111,637,696 (GRCm39) H145R probably benign Het
Cntnap5a T A 1: 116,045,393 (GRCm39) N336K probably damaging Het
Coil T A 11: 88,864,886 (GRCm39) C38S possibly damaging Het
Cps1 T C 1: 67,183,041 (GRCm39) V133A probably damaging Het
Cspg4 A G 9: 56,795,094 (GRCm39) E943G probably damaging Het
Cyp2c54 C T 19: 40,036,032 (GRCm39) D293N probably benign Het
Cyp2f2 T C 7: 26,821,302 (GRCm39) S72P probably benign Het
Dip2c G A 13: 9,601,902 (GRCm39) probably null Het
Dock6 T C 9: 21,731,918 (GRCm39) T1158A probably benign Het
Dscaml1 G A 9: 45,583,941 (GRCm39) V469I probably benign Het
Efcab14 A G 4: 115,613,714 (GRCm39) T221A probably benign Het
Ehbp1 T C 11: 21,956,782 (GRCm39) *1207W probably null Het
Eln T C 5: 134,735,426 (GRCm39) K786E probably damaging Het
Fyb1 C T 15: 6,649,128 (GRCm39) P385S probably benign Het
Galr1 A G 18: 82,423,866 (GRCm39) I137T possibly damaging Het
Gcm1 A T 9: 77,966,999 (GRCm39) K73* probably null Het
Gemin5 T C 11: 58,032,480 (GRCm39) N775D probably damaging Het
Gli3 C T 13: 15,788,435 (GRCm39) H147Y probably damaging Het
Gm10754 G T 10: 97,518,089 (GRCm39) probably benign Het
Gpr37 T C 6: 25,669,137 (GRCm39) D569G probably damaging Het
Grina T A 15: 76,133,289 (GRCm39) Y286N probably damaging Het
Gtf3c1 C A 7: 125,292,310 (GRCm39) probably null Het
Kcnc4 C T 3: 107,355,534 (GRCm39) V305M probably benign Het
Kntc1 T C 5: 123,916,338 (GRCm39) F724L probably benign Het
Kpnb1 T C 11: 97,069,136 (GRCm39) Y249C probably damaging Het
Krt6b T C 15: 101,586,809 (GRCm39) T269A probably benign Het
Lamc1 T C 1: 153,097,380 (GRCm39) K1555E probably damaging Het
Maneal T C 4: 124,755,650 (GRCm39) Y104C probably damaging Het
Map1b T C 13: 99,567,679 (GRCm39) T1681A unknown Het
Mettl17 T C 14: 52,128,160 (GRCm39) L272P probably benign Het
Mib2 T A 4: 155,741,456 (GRCm39) S357C probably benign Het
Mmp19 C A 10: 128,634,047 (GRCm39) T316K possibly damaging Het
Mroh9 C T 1: 162,854,078 (GRCm39) G774E probably damaging Het
Myh1 T C 11: 67,096,325 (GRCm39) probably benign Het
Ncor2 C A 5: 125,104,202 (GRCm39) E963* probably null Het
Nol6 T A 4: 41,123,596 (GRCm39) T51S probably benign Het
Nsun3 A T 16: 62,555,732 (GRCm39) C265S probably damaging Het
Nup214 C T 2: 31,924,478 (GRCm39) S1669F probably damaging Het
Nutm2 T A 13: 50,623,517 (GRCm39) N71K probably damaging Het
Or10a5 T G 7: 106,635,356 (GRCm39) L5R probably benign Het
Or5p73 C T 7: 108,065,167 (GRCm39) T212I probably benign Het
Orc3 T A 4: 34,607,228 (GRCm39) E34V possibly damaging Het
Polr3a A T 14: 24,502,616 (GRCm39) V1241E probably null Het
Prpf39 C T 12: 65,100,088 (GRCm39) P135S probably damaging Het
Psrc1 T C 3: 108,292,309 (GRCm39) V34A probably benign Het
Rab27a G A 9: 72,989,684 (GRCm39) V52M probably benign Het
Rassf9 A G 10: 102,381,895 (GRCm39) T424A probably benign Het
Ripor3 G T 2: 167,842,297 (GRCm39) R61S possibly damaging Het
Ryr3 C T 2: 112,466,867 (GRCm39) probably benign Het
Samd4b C T 7: 28,113,435 (GRCm39) G177R probably damaging Het
Setbp1 C T 18: 78,826,516 (GRCm39) V1366M probably benign Het
Smad1 G A 8: 80,070,359 (GRCm39) A393V probably benign Het
Tctn2 T C 5: 124,745,826 (GRCm39) noncoding transcript Het
Tmem45a A T 16: 56,631,965 (GRCm39) F218I possibly damaging Het
Tpte A T 8: 22,845,487 (GRCm39) R512S probably damaging Het
Trim37 T A 11: 87,020,585 (GRCm39) L22* probably null Het
Ttc6 A G 12: 57,783,916 (GRCm39) N1792D probably damaging Het
Ttn A G 2: 76,775,960 (GRCm39) M1694T probably damaging Het
Vmn1r181 T A 7: 23,684,137 (GRCm39) W201R probably damaging Het
Wdr74 C T 19: 8,715,592 (GRCm39) L198F possibly damaging Het
Zfp560 T C 9: 20,260,086 (GRCm39) T259A probably benign 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
R1292:Pcdhb13 UTSW 18 37,576,885 (GRCm39) missense probably benign 0.43
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'- GGCCAAAGTTACCTCGGTGATGAAG -3'
(R):5'- AGGAGCATTTCTCTGGCAGGAAAC -3'

Sequencing Primer
(F):5'- GGTTCAGGATCAATTCAGTATGCC -3'
(R):5'- TCTCTGGCAGGAAACTCTGG -3'
Posted On 2014-03-28