Incidental Mutation 'R4084:Pcdh10'
ID 317008
Institutional Source Beutler Lab
Gene Symbol Pcdh10
Ensembl Gene ENSMUSG00000049100
Gene Name protocadherin 10
Synonyms Olpc, OL-pc, 6430521D13Rik, 6430703F07Rik
MMRRC Submission 040857-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.231) question?
Stock # R4084 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 45332833-45389014 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 45347142 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 979 (D979A)
Ref Sequence ENSEMBL: ENSMUSP00000131600 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000166126] [ENSMUST00000170695] [ENSMUST00000171554]
AlphaFold E9PXQ7
Predicted Effect probably damaging
Transcript: ENSMUST00000166126
AA Change: D979A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131073
Gene: ENSMUSG00000049100
AA Change: D979A

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 probably damaging
Transcript: ENSMUST00000170695
AA Change: D979A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132769
Gene: ENSMUSG00000049100
AA Change: D979A

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 probably damaging
Transcript: ENSMUST00000171554
AA Change: D979A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131600
Gene: ENSMUSG00000049100
AA Change: D979A

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: ENSMUST00000195655
Meta Mutation Damage Score 0.0975 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.7%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amotl2 A T 9: 102,601,884 (GRCm39) probably null Het
Arhgdig T C 17: 26,418,799 (GRCm39) D114G possibly damaging Het
Btnl1 C T 17: 34,600,133 (GRCm39) T212I possibly damaging Het
Camkk1 C T 11: 72,928,691 (GRCm39) T410I probably damaging Het
Capn13 C T 17: 73,644,444 (GRCm39) G362R probably benign Het
Catsperd A G 17: 56,961,453 (GRCm39) T392A probably benign Het
Ccdc180 A G 4: 45,950,632 (GRCm39) I1626V probably benign Het
Cdon C A 9: 35,389,427 (GRCm39) T844K probably damaging Het
Col28a1 G A 6: 8,013,131 (GRCm39) Q974* probably null Het
Col28a1 C G 6: 8,013,132 (GRCm39) K973N possibly damaging Het
Dnhd1 T C 7: 105,358,795 (GRCm39) L3428P probably damaging Het
Ecm1 A T 3: 95,641,676 (GRCm39) N519K probably damaging Het
Fbxw11 T C 11: 32,689,248 (GRCm39) V457A probably damaging Het
Flna C T X: 73,280,531 (GRCm39) V1009M possibly damaging Het
Fmnl2 A T 2: 52,997,507 (GRCm39) K486I possibly damaging Het
Gja1 A C 10: 56,264,607 (GRCm39) Q322P possibly damaging Het
Gtpbp3 A G 8: 71,943,156 (GRCm39) Q189R probably benign Het
H2-Eb1 T C 17: 34,533,417 (GRCm39) V213A probably damaging Het
Herc4 G T 10: 63,119,016 (GRCm39) G322V probably damaging Het
Hgf G T 5: 16,820,856 (GRCm39) G668* probably null Het
Htra1 T C 7: 130,538,074 (GRCm39) S25P probably benign Het
Ifi44 A G 3: 151,451,126 (GRCm39) probably null Het
Klhl24 T A 16: 19,933,312 (GRCm39) S308T probably damaging Het
Lamb2 A G 9: 108,365,217 (GRCm39) N1291S probably benign Het
Lgals9 A T 11: 78,860,589 (GRCm39) F162Y possibly damaging Het
Lig3 T A 11: 82,686,250 (GRCm39) I634N probably damaging Het
Lipn T C 19: 34,056,340 (GRCm39) F229L probably benign Het
Lmtk3 T A 7: 45,442,716 (GRCm39) S466R probably damaging Het
Lonrf2 G A 1: 38,860,232 (GRCm39) T22I probably benign Het
Macf1 T C 4: 123,343,865 (GRCm39) H2119R probably damaging Het
Muc6 C T 7: 141,234,920 (GRCm39) C634Y probably damaging Het
Nap1l1 G A 10: 111,325,938 (GRCm39) V86I possibly damaging Het
Noxred1 A G 12: 87,280,258 (GRCm39) Y25H possibly damaging Het
Nphp4 T C 4: 152,573,248 (GRCm39) L62P probably damaging Het
Or11h6 T A 14: 50,880,305 (GRCm39) I189N probably damaging Het
Or2b2 G A 13: 21,887,238 (GRCm39) W22* probably null Het
Or2b2 C A 13: 21,887,239 (GRCm39) L23M probably damaging Het
Or52ab4 T G 7: 102,987,527 (GRCm39) F89V probably damaging Het
Pla2g4f C G 2: 120,142,806 (GRCm39) Q101H probably benign Het
Ppp1r15b T C 1: 133,060,805 (GRCm39) F441L probably damaging Het
Prkaca C A 8: 84,721,939 (GRCm39) P309T probably damaging Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Ripor3 A G 2: 167,826,386 (GRCm39) Y720H possibly damaging Het
Rpgrip1 A G 14: 52,386,808 (GRCm39) E751G possibly damaging Het
Rsf1 GCGGCGGCGGCGGCGGC GCGGCGGCGGCGGCGGCGGCGGCGGC 7: 97,229,126 (GRCm39) probably benign Het
Ryr3 A G 2: 112,731,253 (GRCm39) S686P probably damaging Het
Seh1l T C 18: 67,921,860 (GRCm39) V240A possibly damaging Het
Slc10a2 T G 8: 5,139,126 (GRCm39) I273L possibly damaging Het
Slc23a2 A T 2: 131,933,137 (GRCm39) L107* probably null Het
Slc44a4 T C 17: 35,136,323 (GRCm39) L38P probably damaging Het
Slc6a18 C T 13: 73,815,148 (GRCm39) V387I probably benign Het
Slu7 G A 11: 43,334,218 (GRCm39) A415T probably benign Het
Tlr5 A T 1: 182,802,413 (GRCm39) R572S possibly damaging Het
Tmem45a2 C T 16: 56,891,387 (GRCm39) G3D probably benign Het
Trim24 A G 6: 37,892,192 (GRCm39) T242A probably damaging Het
Triobp T A 15: 78,857,871 (GRCm39) N1157K probably benign Het
Ugt1a6a A T 1: 88,066,899 (GRCm39) D235V probably benign Het
Vmn2r37 C T 7: 9,218,984 (GRCm39) V467I probably benign Het
Vmn2r7 C T 3: 64,600,414 (GRCm39) E495K probably benign Het
Vstm2a A G 11: 16,213,098 (GRCm39) E161G probably damaging Het
Ypel3 T C 7: 126,377,537 (GRCm39) V74A possibly damaging Het
Zfp1005 T A 2: 150,108,122 (GRCm39) N27K possibly damaging Het
Zfp27 C T 7: 29,594,792 (GRCm39) R391H possibly damaging 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
R1857:Pcdh10 UTSW 3 45,334,372 (GRCm39) missense possibly damaging 0.86
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
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'- CCGACCGTCGAATACATCTG -3'
(R):5'- ATGCAGGCTTCTGTGTGATAC -3'

Sequencing Primer
(F):5'- GACCGTCGAATACATCTGGAGTTC -3'
(R):5'- GCAGGCTTCTGTGTGATACTTACTC -3'
Posted On 2015-05-15