Incidental Mutation 'R1857:Pcdh10'
ID 206205
Institutional Source Beutler Lab
Gene Symbol Pcdh10
Ensembl Gene ENSMUSG00000049100
Gene Name protocadherin 10
Synonyms Olpc, OL-pc, 6430521D13Rik, 6430703F07Rik
MMRRC Submission 039881-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.235) question?
Stock # R1857 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 45332833-45389014 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 45334372 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 229 (Q229K)
Ref Sequence ENSEMBL: ENSMUSP00000141529 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000166126] [ENSMUST00000170695] [ENSMUST00000171554] [ENSMUST00000193252]
AlphaFold E9PXQ7
Predicted Effect possibly damaging
Transcript: ENSMUST00000166126
AA Change: Q229K

PolyPhen 2 Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000131073
Gene: ENSMUSG00000049100
AA Change: Q229K

DomainStartEndE-ValueType
CA 34 120 1.64e-2 SMART
CA 144 248 1.46e-12 SMART
CA 272 356 2.88e-25 SMART
CA 380 461 1.9e-25 SMART
CA 485 572 1.8e-26 SMART
CA 603 686 8.29e-17 SMART
low complexity region 687 697 N/A INTRINSIC
Pfam:Cadherin_C_2 713 838 5e-23 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000170695
AA Change: Q229K

PolyPhen 2 Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000132769
Gene: ENSMUSG00000049100
AA Change: Q229K

DomainStartEndE-ValueType
CA 34 120 1.64e-2 SMART
CA 144 248 1.46e-12 SMART
CA 272 356 2.88e-25 SMART
CA 380 461 1.9e-25 SMART
CA 485 572 1.8e-26 SMART
CA 603 686 8.29e-17 SMART
low complexity region 687 697 N/A INTRINSIC
transmembrane domain 716 738 N/A INTRINSIC
low complexity region 751 772 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000171554
AA Change: Q229K

PolyPhen 2 Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000131600
Gene: ENSMUSG00000049100
AA Change: Q229K

DomainStartEndE-ValueType
CA 34 120 1.64e-2 SMART
CA 144 248 1.46e-12 SMART
CA 272 356 2.88e-25 SMART
CA 380 461 1.9e-25 SMART
CA 485 572 1.8e-26 SMART
CA 603 686 8.29e-17 SMART
low complexity region 687 697 N/A INTRINSIC
transmembrane domain 716 738 N/A INTRINSIC
low complexity region 751 772 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181047
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191843
Predicted Effect possibly damaging
Transcript: ENSMUST00000193252
AA Change: Q229K

PolyPhen 2 Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000141529
Gene: ENSMUSG00000049100
AA Change: Q229K

DomainStartEndE-ValueType
CA 34 120 1.64e-2 SMART
CA 144 248 1.46e-12 SMART
CA 272 356 2.88e-25 SMART
CA 380 461 1.9e-25 SMART
CA 485 572 1.8e-26 SMART
CA 603 686 8.29e-17 SMART
low complexity region 687 697 N/A INTRINSIC
transmembrane domain 716 738 N/A INTRINSIC
low complexity region 751 772 N/A INTRINSIC
low complexity region 887 896 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195655
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. This family member contains 6 extracellular cadherin domains, a transmembrane domain and a cytoplasmic tail differing from those of the classical cadherins. The encoded protein is a cadherin-related neuronal receptor thought to function in the establishment of specific cell-cell connections in the brain. This gene plays a role in inhibiting cancer cell motility and cell migration. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2015]
PHENOTYPE: Mice homozygous for a reporter allele die within several weeks of birth and exhibit decreased body size and defective striatal axon growth and thalamocortical projections in the ventral telencephalon. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 T A 8: 111,766,789 (GRCm39) I57N probably damaging Het
Abca15 T C 7: 119,960,592 (GRCm39) S685P probably damaging Het
Adpgk G T 9: 59,222,248 (GRCm39) V392L probably benign Het
Akap14 C T X: 36,420,779 (GRCm39) A476T probably damaging Het
Amdhd1 A T 10: 93,367,416 (GRCm39) I246N probably damaging Het
Amhr2 T A 15: 102,355,212 (GRCm39) L165* probably null Het
Atr T A 9: 95,747,150 (GRCm39) I144N probably damaging Het
Ccdc33 T C 9: 57,939,991 (GRCm39) N750S possibly damaging Het
Cdh23 A G 10: 60,159,076 (GRCm39) I2233T probably damaging Het
Cfap46 C A 7: 139,233,324 (GRCm39) V774F probably damaging Het
Cfap69 G T 5: 5,632,518 (GRCm39) T362K possibly damaging Het
Cnih3 A G 1: 181,277,638 (GRCm39) H101R probably damaging Het
Crebrf T A 17: 26,961,937 (GRCm39) Y345N probably benign Het
Cyb5r4 C T 9: 86,923,332 (GRCm39) S185L probably benign Het
Cyp2j5 T C 4: 96,547,723 (GRCm39) E173G possibly damaging Het
Cyp3a41b T A 5: 145,503,660 (GRCm39) I296F probably benign Het
Dse T C 10: 34,029,225 (GRCm39) T622A probably benign Het
Duxf4 A G 10: 58,071,602 (GRCm39) V204A probably benign Het
Dync1h1 T A 12: 110,629,059 (GRCm39) F4205L probably damaging Het
Eif3a A C 19: 60,770,635 (GRCm39) L71V probably damaging Het
Eif3h T C 15: 51,662,674 (GRCm39) Y124C probably damaging Het
Eif4g3 A T 4: 137,903,187 (GRCm39) Q1169L possibly damaging Het
Endod1 T A 9: 14,268,405 (GRCm39) H360L probably benign Het
Fbxo38 A G 18: 62,648,489 (GRCm39) I683T probably damaging Het
Frem2 T A 3: 53,562,294 (GRCm39) T738S probably benign Het
Gm1527 A T 3: 28,957,539 (GRCm39) T148S probably damaging Het
Gm4894 T C 9: 49,189,976 (GRCm39) S84P unknown Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Il1f10 A T 2: 24,182,817 (GRCm39) D31V possibly damaging Het
Lrrc56 A G 7: 140,787,421 (GRCm39) M353V probably benign Het
Meiob T C 17: 25,042,544 (GRCm39) V124A probably damaging Het
Mmp11 A T 10: 75,764,191 (GRCm39) D91E probably benign Het
Mpped2 T C 2: 106,613,989 (GRCm39) Y108H probably damaging Het
Mroh9 A G 1: 162,866,714 (GRCm39) V674A probably damaging Het
Mtor G T 4: 148,565,336 (GRCm39) Q1015H probably damaging Het
Mylk3 G A 8: 86,055,223 (GRCm39) T711I probably damaging Het
Ndufaf6 G T 4: 11,053,474 (GRCm39) H277Q probably benign Het
Neurl4 G T 11: 69,796,361 (GRCm39) G435V probably damaging Het
Nipal2 A G 15: 34,678,779 (GRCm39) S21P possibly damaging Het
Nphp1 T A 2: 127,612,296 (GRCm39) D217V probably benign Het
Nphp3 T C 9: 103,898,493 (GRCm39) I432T possibly damaging Het
Oprd1 T G 4: 131,840,992 (GRCm39) D322A probably damaging Het
Or10ag2 T C 2: 87,248,992 (GRCm39) L198P probably damaging Het
Or2b28 A G 13: 21,531,346 (GRCm39) M83V possibly damaging Het
Or56a3b T G 7: 104,770,751 (GRCm39) L29R probably benign Het
Pdlim7 G A 13: 55,653,858 (GRCm39) T253M probably damaging Het
Pfdn1 C A 18: 36,584,153 (GRCm39) M60I probably benign Het
Pigc T G 1: 161,798,446 (GRCm39) S143A possibly damaging Het
Pkd1l2 T C 8: 117,767,408 (GRCm39) D1294G possibly damaging Het
Ppp2r1a T C 17: 21,181,951 (GRCm39) S490P possibly damaging Het
Ppp2r3d T A 9: 101,090,092 (GRCm39) N77I probably damaging Het
Pramel17 T C 4: 101,692,770 (GRCm39) Y410C probably damaging Het
Pramel29 C T 4: 143,935,091 (GRCm39) V217I possibly damaging Het
Prl7a2 A T 13: 27,843,163 (GRCm39) C213* probably null Het
Prpf8 T A 11: 75,386,249 (GRCm39) probably null Het
Psmd7 A T 8: 108,311,525 (GRCm39) N109K probably damaging Het
Ptprn T C 1: 75,224,549 (GRCm39) K936E possibly damaging Het
Ro60 T C 1: 143,646,488 (GRCm39) T86A probably benign Het
Ror1 A T 4: 100,298,700 (GRCm39) Q691L probably damaging Het
Sars2 A G 7: 28,449,437 (GRCm39) M322V probably benign Het
Scfd2 C A 5: 74,372,962 (GRCm39) E638* probably null Het
Scgb3a2 A G 18: 43,899,900 (GRCm39) T63A probably benign Het
Slc5a4a T C 10: 76,002,569 (GRCm39) S242P probably benign Het
Smarcd1 A G 15: 99,607,295 (GRCm39) K382E probably damaging Het
Sox5 T A 6: 143,906,541 (GRCm39) S305C probably damaging Het
Sp5 C A 2: 70,307,213 (GRCm39) H299Q possibly damaging Het
Stard13 T C 5: 151,018,903 (GRCm39) Y60C probably damaging Het
Tmprss6 A G 15: 78,336,752 (GRCm39) F383L probably damaging Het
Ttc23 T C 7: 67,328,821 (GRCm39) probably null Het
Ugt2b34 T C 5: 87,052,241 (GRCm39) T252A possibly damaging Het
Vangl2 A T 1: 171,837,464 (GRCm39) L115Q probably damaging Het
Vmn1r42 A G 6: 89,821,597 (GRCm39) I324T probably benign Het
Vwa5b1 A G 4: 138,296,413 (GRCm39) F1205L probably damaging Het
Zfp951 G C 5: 104,962,723 (GRCm39) T281R probably damaging Het
Zscan30 A G 18: 24,104,524 (GRCm39) noncoding transcript Het
Other mutations in Pcdh10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00863:Pcdh10 APN 3 45,334,737 (GRCm39) missense probably damaging 1.00
IGL01115:Pcdh10 APN 3 45,347,210 (GRCm39) missense probably damaging 1.00
IGL01535:Pcdh10 APN 3 45,334,078 (GRCm39) missense probably damaging 1.00
IGL01600:Pcdh10 APN 3 45,333,922 (GRCm39) missense probably damaging 0.98
IGL01625:Pcdh10 APN 3 45,333,832 (GRCm39) missense probably damaging 0.99
IGL01966:Pcdh10 APN 3 45,334,733 (GRCm39) missense probably benign 0.05
IGL02232:Pcdh10 APN 3 45,335,377 (GRCm39) missense probably benign 0.00
IGL02490:Pcdh10 APN 3 45,334,922 (GRCm39) missense probably damaging 1.00
IGL02890:Pcdh10 APN 3 45,347,052 (GRCm39) missense probably damaging 1.00
IGL02976:Pcdh10 APN 3 45,334,448 (GRCm39) missense possibly damaging 0.92
IGL02997:Pcdh10 APN 3 45,333,797 (GRCm39) missense probably damaging 1.00
IGL03006:Pcdh10 APN 3 45,333,937 (GRCm39) missense probably damaging 0.99
IGL03385:Pcdh10 APN 3 45,335,947 (GRCm39) missense possibly damaging 0.77
R0025:Pcdh10 UTSW 3 45,334,934 (GRCm39) missense possibly damaging 0.93
R0157:Pcdh10 UTSW 3 45,334,136 (GRCm39) missense probably damaging 1.00
R0372:Pcdh10 UTSW 3 45,333,932 (GRCm39) missense probably damaging 1.00
R0652:Pcdh10 UTSW 3 45,334,199 (GRCm39) missense probably damaging 1.00
R0760:Pcdh10 UTSW 3 45,335,005 (GRCm39) missense probably benign 0.19
R0976:Pcdh10 UTSW 3 45,335,236 (GRCm39) missense probably damaging 1.00
R1307:Pcdh10 UTSW 3 45,336,314 (GRCm39) missense probably benign 0.00
R1466:Pcdh10 UTSW 3 45,334,409 (GRCm39) missense probably damaging 1.00
R1466:Pcdh10 UTSW 3 45,334,409 (GRCm39) missense probably damaging 1.00
R1510:Pcdh10 UTSW 3 45,333,838 (GRCm39) missense probably damaging 1.00
R1619:Pcdh10 UTSW 3 45,334,747 (GRCm39) missense possibly damaging 0.94
R1678:Pcdh10 UTSW 3 45,336,316 (GRCm39) nonsense probably null
R1687:Pcdh10 UTSW 3 45,334,450 (GRCm39) missense probably damaging 1.00
R1750:Pcdh10 UTSW 3 45,336,316 (GRCm39) nonsense probably null
R1751:Pcdh10 UTSW 3 45,338,612 (GRCm39) missense probably damaging 1.00
R1767:Pcdh10 UTSW 3 45,338,612 (GRCm39) missense probably damaging 1.00
R2086:Pcdh10 UTSW 3 45,334,906 (GRCm39) missense probably damaging 0.98
R3960:Pcdh10 UTSW 3 45,333,749 (GRCm39) missense probably benign
R4083:Pcdh10 UTSW 3 45,347,142 (GRCm39) missense probably damaging 1.00
R4084:Pcdh10 UTSW 3 45,347,142 (GRCm39) missense probably damaging 1.00
R4112:Pcdh10 UTSW 3 45,336,055 (GRCm39) missense probably damaging 1.00
R4754:Pcdh10 UTSW 3 45,335,072 (GRCm39) missense probably damaging 0.99
R4946:Pcdh10 UTSW 3 45,333,917 (GRCm39) missense probably damaging 1.00
R5039:Pcdh10 UTSW 3 45,336,296 (GRCm39) missense probably damaging 1.00
R5224:Pcdh10 UTSW 3 45,347,249 (GRCm39) missense probably damaging 0.99
R5233:Pcdh10 UTSW 3 45,338,626 (GRCm39) missense probably damaging 1.00
R5261:Pcdh10 UTSW 3 45,336,247 (GRCm39) missense probably damaging 1.00
R5429:Pcdh10 UTSW 3 45,338,635 (GRCm39) missense probably benign 0.00
R5488:Pcdh10 UTSW 3 45,335,803 (GRCm39) missense probably damaging 1.00
R5558:Pcdh10 UTSW 3 45,338,603 (GRCm39) missense probably damaging 1.00
R5784:Pcdh10 UTSW 3 45,335,075 (GRCm39) missense probably damaging 1.00
R5815:Pcdh10 UTSW 3 45,347,156 (GRCm39) missense probably benign 0.04
R6283:Pcdh10 UTSW 3 45,335,989 (GRCm39) missense possibly damaging 0.46
R6396:Pcdh10 UTSW 3 45,334,495 (GRCm39) missense possibly damaging 0.46
R6703:Pcdh10 UTSW 3 45,335,734 (GRCm39) missense possibly damaging 0.87
R6756:Pcdh10 UTSW 3 45,334,541 (GRCm39) missense possibly damaging 0.80
R6968:Pcdh10 UTSW 3 45,333,977 (GRCm39) missense probably damaging 1.00
R7463:Pcdh10 UTSW 3 45,338,007 (GRCm39) missense possibly damaging 0.59
R7574:Pcdh10 UTSW 3 45,335,810 (GRCm39) missense possibly damaging 0.92
R7691:Pcdh10 UTSW 3 45,335,632 (GRCm39) missense probably damaging 1.00
R7795:Pcdh10 UTSW 3 45,334,657 (GRCm39) missense probably benign 0.09
R8057:Pcdh10 UTSW 3 45,333,694 (GRCm39) missense probably benign 0.00
R8082:Pcdh10 UTSW 3 45,336,179 (GRCm39) missense probably damaging 1.00
R8302:Pcdh10 UTSW 3 45,335,933 (GRCm39) missense probably damaging 0.99
R8411:Pcdh10 UTSW 3 45,333,974 (GRCm39) missense probably damaging 1.00
R8555:Pcdh10 UTSW 3 45,334,030 (GRCm39) missense probably benign 0.41
R8765:Pcdh10 UTSW 3 45,333,923 (GRCm39) missense probably damaging 1.00
R8940:Pcdh10 UTSW 3 45,338,620 (GRCm39) missense possibly damaging 0.83
R9146:Pcdh10 UTSW 3 45,334,351 (GRCm39) missense probably benign 0.08
R9306:Pcdh10 UTSW 3 45,335,804 (GRCm39) missense probably benign 0.30
R9330:Pcdh10 UTSW 3 45,335,618 (GRCm39) missense probably damaging 0.96
R9714:Pcdh10 UTSW 3 45,336,010 (GRCm39) missense probably damaging 0.98
X0013:Pcdh10 UTSW 3 45,334,001 (GRCm39) missense probably damaging 1.00
Z1177:Pcdh10 UTSW 3 45,336,164 (GRCm39) missense probably benign 0.06
Predicted Primers PCR Primer
(F):5'- AATAGCTACTTCTCGCTAGACGTAC -3'
(R):5'- AGCCCTGGGTGAAATGTGAC -3'

Sequencing Primer
(F):5'- TTCTCGCTAGACGTACAGACC -3'
(R):5'- TGTGACTACTGAACGAGTACAC -3'
Posted On 2014-06-23