Incidental Mutation 'R6174:Pcdhb13'
ID 488221
Institutional Source Beutler Lab
Gene Symbol Pcdhb13
Ensembl Gene ENSMUSG00000047307
Gene Name protocadherin beta 13
Synonyms PcdhbM, Pcdbh6
Accession Numbers
Essential gene? Probably non essential (E-score: 0.122) question?
Stock # R6174 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 37575570-37579262 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 37576474 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 284 (D284V)
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 possibly damaging
Transcript: ENSMUST00000056915
AA Change: D284V

PolyPhen 2 Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000061087
Gene: ENSMUSG00000047307
AA Change: D284V

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.7%
Validation Efficiency
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik T A 6: 91,919,517 (GRCm39) D725E probably damaging Het
Bco1 T A 8: 117,840,273 (GRCm39) Y264N probably damaging Het
Cd109 G A 9: 78,572,828 (GRCm39) probably null Het
Cdc45 T C 16: 18,613,454 (GRCm39) probably null Het
Ckap5 A G 2: 91,398,564 (GRCm39) E578G probably benign Het
Cracr2b T A 7: 141,044,749 (GRCm39) L193Q probably damaging Het
Dmxl2 G A 9: 54,301,011 (GRCm39) L2367F probably damaging Het
Dop1b T G 16: 93,563,110 (GRCm39) D871E probably damaging Het
Emc1 T C 4: 139,093,842 (GRCm39) Y651H probably benign Het
Enox1 T C 14: 77,745,627 (GRCm39) S41P possibly damaging Het
Fcgbpl1 A G 7: 27,839,384 (GRCm39) Y399C probably damaging Het
Foxa1 A G 12: 57,589,686 (GRCm39) L178P probably damaging Het
Gm57859 C A 11: 113,579,801 (GRCm39) H399N possibly damaging Het
Grm7 T A 6: 111,223,258 (GRCm39) Y433N probably benign Het
Gsta5 T A 9: 78,211,737 (GRCm39) Y166* probably null Het
Gtf3c2 G A 5: 31,315,555 (GRCm39) R813C probably damaging Het
H4c9 T A 13: 22,225,247 (GRCm39) T83S probably benign Het
Hacd3 T C 9: 64,912,909 (GRCm39) E117G probably damaging Het
Hmcn1 G A 1: 150,522,535 (GRCm39) T3455M probably benign Het
Itga6 A G 2: 71,664,053 (GRCm39) I61V possibly damaging Het
Jaml T C 9: 45,000,071 (GRCm39) L81P probably damaging Het
Loxhd1 T C 18: 77,499,874 (GRCm39) F782S probably damaging Het
Lrp1b T C 2: 41,339,275 (GRCm39) H742R probably benign Het
Macrod2 G T 2: 140,242,895 (GRCm39) M1I probably null Het
Mcf2l G A 8: 13,063,849 (GRCm39) W1020* probably null Het
Msgn1 A G 12: 11,258,924 (GRCm39) L9P probably damaging Het
Ngdn C A 14: 55,259,556 (GRCm39) S202R probably benign Het
Notch1 C T 2: 26,375,454 (GRCm39) G50R possibly damaging Het
Or14c46 A T 7: 85,918,009 (GRCm39) D329E probably benign Het
Or1a1b A T 11: 74,097,466 (GRCm39) I192N probably damaging Het
Or2d2b A T 7: 106,705,714 (GRCm39) M118K probably damaging Het
Or5d14 A T 2: 87,880,646 (GRCm39) C107* probably null Het
Osbpl10 A G 9: 114,938,555 (GRCm39) S211G probably benign Het
Pabpc6 G A 17: 9,887,084 (GRCm39) A489V probably benign Het
Pde6c T C 19: 38,128,677 (GRCm39) S214P possibly damaging Het
Pofut1 C T 2: 153,101,536 (GRCm39) H192Y probably damaging Het
Pou3f2 T C 4: 22,486,960 (GRCm39) D391G possibly damaging Het
Prc1 G A 7: 79,954,544 (GRCm39) S165N probably benign Het
Prex1 A G 2: 166,414,883 (GRCm39) V304A probably benign Het
Ptpru T C 4: 131,513,065 (GRCm39) I881V probably benign Het
Radil A G 5: 142,472,870 (GRCm39) S847P probably benign Het
Rimklb A G 6: 122,433,371 (GRCm39) S317P probably damaging Het
Sdhc A T 1: 170,966,271 (GRCm39) L78* probably null Het
Skint6 T A 4: 112,696,510 (GRCm39) I1042F possibly damaging Het
Slc1a6 T A 10: 78,637,741 (GRCm39) D422E probably damaging Het
Slc29a1 A T 17: 45,900,854 (GRCm39) H71Q probably damaging Het
Slfn14 A T 11: 83,167,429 (GRCm39) D695E probably damaging Het
Spg11 A T 2: 121,917,286 (GRCm39) probably null Het
Srgap2 A G 1: 131,217,354 (GRCm39) V986A probably benign Het
Stab1 A T 14: 30,884,476 (GRCm39) C172* probably null Het
Tigd4 A G 3: 84,502,574 (GRCm39) H497R probably benign Het
Ubn2 G A 6: 38,438,471 (GRCm39) G60D probably damaging Het
Uckl1 C T 2: 181,214,866 (GRCm39) probably null Het
Vmn2r24 A T 6: 123,793,236 (GRCm39) K854N probably benign Het
Vps13d G A 4: 144,701,763 (GRCm39) Q3193* probably null Het
Wdr26 G A 1: 181,019,433 (GRCm39) L315F probably damaging Het
Zc3h8 C A 2: 128,785,775 (GRCm39) E24* probably null Het
Zfp39 A G 11: 58,782,213 (GRCm39) V183A probably benign Het
Zfp608 C A 18: 55,121,616 (GRCm39) 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
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
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'- GCTCAGACTAAAGCTCACTGC -3'
(R):5'- GGAGCGTTATCATTCACGTCC -3'

Sequencing Primer
(F):5'- GCTCACTGCGGTGGATG -3'
(R):5'- GGAGCGTTATCATTCACGTCCAATAC -3'
Posted On 2017-10-10