Incidental Mutation 'R5354:Pcdhb13'
ID 424010
Institutional Source Beutler Lab
Gene Symbol Pcdhb13
Ensembl Gene ENSMUSG00000047307
Gene Name protocadherin beta 13
Synonyms PcdhbM, Pcdbh6
MMRRC Submission 042933-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.122) question?
Stock # R5354 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 37575570-37579262 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 37577844 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Cysteine at position 741 (G741C)
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 damaging
Transcript: ENSMUST00000056915
AA Change: G741C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000061087
Gene: ENSMUSG00000047307
AA Change: G741C

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 0.8668 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 100% (80/80)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630010A05Rik A G 16: 14,436,535 (GRCm39) K196R probably benign Het
Ablim1 T C 19: 57,119,355 (GRCm39) E243G probably benign Het
Acat1 T A 9: 53,500,483 (GRCm39) E271V possibly damaging Het
Aco1 T C 4: 40,180,290 (GRCm39) probably null Het
Adam22 C A 5: 8,140,182 (GRCm39) G202W probably damaging Het
Agbl3 T A 6: 34,791,687 (GRCm39) H596Q probably benign Het
Anxa7 A G 14: 20,514,977 (GRCm39) L177P possibly damaging Het
Atp11a A T 8: 12,856,753 (GRCm39) N48I probably damaging Het
Bcas1 T A 2: 170,191,316 (GRCm39) N492I possibly damaging Het
Bclaf1 A G 10: 20,209,278 (GRCm39) Y498C probably damaging Het
Bltp3a G A 17: 28,106,489 (GRCm39) S1005N probably benign Het
Bod1l A C 5: 41,988,880 (GRCm39) V409G probably damaging Het
Ccdc170 G A 10: 4,484,188 (GRCm39) C338Y probably benign Het
Cdc45 C T 16: 18,614,647 (GRCm39) R205H probably damaging Het
Ckap2 A C 8: 22,667,581 (GRCm39) N93K probably damaging Het
Clca3a1 A T 3: 144,442,766 (GRCm39) S759R possibly damaging Het
Coro1c A T 5: 113,984,226 (GRCm39) I347N possibly damaging Het
Cpox A G 16: 58,491,205 (GRCm39) T139A probably damaging Het
Cyp4a12b C A 4: 115,290,661 (GRCm39) probably null Het
Dctn1 T G 6: 83,160,108 (GRCm39) V116G possibly damaging Het
Dhx38 A G 8: 110,282,378 (GRCm39) V683A probably damaging Het
Dnah12 G A 14: 26,496,299 (GRCm39) probably null Het
Dnajb7 T C 15: 81,292,208 (GRCm39) E43G probably damaging Het
Dsc1 A T 18: 20,220,632 (GRCm39) V714E probably damaging Het
Dusp29 G A 14: 21,727,091 (GRCm39) R186W probably benign Het
Egfem1 T C 3: 29,136,361 (GRCm39) probably null Het
Fchsd1 C T 18: 38,092,926 (GRCm39) probably benign Het
Fmo1 T C 1: 162,657,714 (GRCm39) T476A probably benign Het
Gm10237 T C 16: 35,741,099 (GRCm39) noncoding transcript Het
Gm14496 A G 2: 181,642,602 (GRCm39) S758G probably damaging Het
Gpat2 T A 2: 127,270,643 (GRCm39) L97Q probably damaging Het
Gpr162 T C 6: 124,836,600 (GRCm39) D357G probably benign Het
Hax1 A T 3: 89,905,262 (GRCm39) D34E probably damaging Het
Hmgcr C T 13: 96,791,404 (GRCm39) V97M probably benign Het
Hsd3b2 T C 3: 98,619,631 (GRCm39) T105A probably benign Het
Ints1 A G 5: 139,752,183 (GRCm39) probably null Het
Islr T C 9: 58,064,895 (GRCm39) E204G probably damaging Het
Lrrc36 A G 8: 106,151,996 (GRCm39) N60D probably damaging Het
Maf1 T C 15: 76,237,330 (GRCm39) probably benign Het
Mrgprb4 T A 7: 47,848,077 (GRCm39) R284W probably benign Het
Myh4 A T 11: 67,146,551 (GRCm39) N1508I possibly damaging Het
Nufip2 A G 11: 77,577,103 (GRCm39) H17R unknown Het
Oasl1 A T 5: 115,075,055 (GRCm39) I372L probably damaging Het
Or5ae1 T A 7: 84,565,357 (GRCm39) Y123* probably null Het
Or6p1 T C 1: 174,258,252 (GRCm39) L86P probably damaging Het
Pald1 A T 10: 61,184,440 (GRCm39) Y226N probably damaging Het
Pcdhga10 A G 18: 37,881,259 (GRCm39) D340G probably damaging Het
Pclo C A 5: 14,728,822 (GRCm39) probably benign Het
Pcsk4 G T 10: 80,159,523 (GRCm39) N416K probably damaging Het
Pde10a C A 17: 9,180,812 (GRCm39) R398S probably damaging Het
Plin1 T A 7: 79,375,469 (GRCm39) T227S possibly damaging Het
Pnpt1 A G 11: 29,104,166 (GRCm39) D542G probably damaging Het
Ppp4r3b T A 11: 29,161,646 (GRCm39) D673E probably benign Het
Prr18 C A 17: 8,559,892 (GRCm39) P16Q probably damaging Het
Psmc3 T A 2: 90,889,698 (GRCm39) Y440N probably damaging Het
Rassf5 T C 1: 131,108,385 (GRCm39) I232V probably benign Het
Rims1 T A 1: 22,577,592 (GRCm39) D218V probably damaging Het
Skint10 T C 4: 112,568,790 (GRCm39) N309S possibly damaging Het
Slc6a1 T C 6: 114,279,584 (GRCm39) M121T possibly damaging Het
Slit3 A G 11: 35,566,740 (GRCm39) D1004G probably damaging Het
Snap91 C T 9: 86,717,177 (GRCm39) V215I possibly damaging Het
Son T C 16: 91,452,627 (GRCm39) L458S probably damaging Het
St18 C T 1: 6,914,395 (GRCm39) A782V probably damaging Het
Synpo A G 18: 60,735,303 (GRCm39) probably null Het
Thbs3 A G 3: 89,128,684 (GRCm39) D458G probably damaging Het
Tpr C T 1: 150,321,675 (GRCm39) R3C probably damaging Het
Trp63 A G 16: 25,503,105 (GRCm39) probably null Het
Vmn1r27 C A 6: 58,192,581 (GRCm39) R141L probably benign Het
Wnk1 T C 6: 119,945,484 (GRCm39) I699V probably benign Het
Xkr6 A G 14: 64,056,353 (GRCm39) D88G possibly damaging Het
Zan A G 5: 137,379,050 (GRCm39) probably benign Het
Zbtb7b T C 3: 89,286,913 (GRCm39) probably benign Het
Zfp618 A T 4: 62,998,265 (GRCm39) D33V 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
R1292:Pcdhb13 UTSW 18 37,576,885 (GRCm39) missense probably benign 0.43
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
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'- ATGCGCTCACGTTATACCTGG -3'
(R):5'- CATCGATAGCGTGCAGATATAGG -3'

Sequencing Primer
(F):5'- GCGCTCACGTTATACCTGGTTATTG -3'
(R):5'- ATAGCGTGCAGATATAGGTTAAAAG -3'
Posted On 2016-08-04