Incidental Mutation 'R3783:Pcdha1'
ID 473565
Institutional Source Beutler Lab
Gene Symbol Pcdha1
Ensembl Gene ENSMUSG00000103442
Gene Name protocadherin alpha 1
Synonyms
MMRRC Submission 040875-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3783 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 37063338-37320710 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 37063855 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 173 (L173Q)
Ref Sequence ENSEMBL: ENSMUSP00000142308 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070797] [ENSMUST00000193839]
AlphaFold Q91Y21
Predicted Effect probably damaging
Transcript: ENSMUST00000070797
AA Change: L173Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000068828
Gene: ENSMUSG00000103442
AA Change: L173Q

DomainStartEndE-ValueType
CA 22 132 3.09e-2 SMART
CA 156 241 6.14e-20 SMART
CA 265 349 3.92e-27 SMART
CA 373 454 4.94e-24 SMART
CA 478 564 1e-24 SMART
CA 592 672 4.55e-14 SMART
transmembrane domain 694 716 N/A INTRINSIC
Pfam:Cadherin_tail 797 931 5.3e-58 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192440
Predicted Effect probably damaging
Transcript: ENSMUST00000193839
AA Change: L173Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142308
Gene: ENSMUSG00000103442
AA Change: L173Q

DomainStartEndE-ValueType
CA 22 132 3.09e-2 SMART
CA 156 241 6.14e-20 SMART
CA 265 349 3.92e-27 SMART
CA 373 454 4.94e-24 SMART
CA 478 564 1e-24 SMART
CA 592 672 4.55e-14 SMART
transmembrane domain 694 716 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 98% (45/46)
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 alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. 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 connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele are viable and fertile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik G T 11: 109,684,980 (GRCm39) C172* probably null Het
Akap6 A G 12: 52,927,552 (GRCm39) H154R probably damaging Het
Aoc1 T C 6: 48,882,589 (GRCm39) L177P probably damaging Het
Ascc3 A G 10: 50,604,350 (GRCm39) T1357A probably damaging Het
Atp13a3 A T 16: 30,173,067 (GRCm39) V270D probably damaging Het
Carmil3 T C 14: 55,734,433 (GRCm39) F418S probably damaging Het
Ccdc93 A G 1: 121,365,598 (GRCm39) N77S probably damaging Het
Cpt1b T C 15: 89,309,392 (GRCm39) K47R probably damaging Het
Cyp4f14 A G 17: 33,135,736 (GRCm39) Y42H probably benign Het
Dmxl1 G A 18: 49,998,189 (GRCm39) S763N probably damaging Het
Fancd2 T G 6: 113,542,165 (GRCm39) S770A probably damaging Het
Firrm A T 1: 163,815,252 (GRCm39) C90S probably benign Het
Flnb T G 14: 7,889,236 (GRCm38) W529G probably benign Het
Fryl T C 5: 73,258,819 (GRCm39) Y655C probably benign Het
Gml C T 15: 74,685,521 (GRCm39) V155M probably damaging Het
Gpr174 A G X: 106,336,670 (GRCm39) T161A probably benign Het
Heatr1 G T 13: 12,449,341 (GRCm39) L1946F probably damaging Het
Inpp5k T C 11: 75,538,512 (GRCm39) L461P probably damaging Het
Isy1 T C 6: 87,798,527 (GRCm39) E209G possibly damaging Het
Kdm5b A G 1: 134,558,280 (GRCm39) H1429R probably benign Het
Magi2 C T 5: 20,670,907 (GRCm39) T580M probably damaging Het
Map3k1 C T 13: 111,892,754 (GRCm39) V834I probably benign Het
Mdn1 A T 4: 32,720,818 (GRCm39) E2310D probably benign Het
Myo15a A T 11: 60,368,398 (GRCm39) Y386F probably damaging Het
Neurod1 T A 2: 79,284,939 (GRCm39) N148I probably damaging Het
Niban1 C T 1: 151,565,399 (GRCm39) S243L possibly damaging Het
Nsa2 G T 13: 97,272,042 (GRCm39) Q60K possibly damaging Het
Pdpk1 T C 17: 24,329,824 (GRCm39) T71A possibly damaging Het
Plxna2 T A 1: 194,489,829 (GRCm39) V1692E probably damaging Het
Pmepa1 G A 2: 173,069,926 (GRCm39) R210W probably damaging Het
Psg27 T A 7: 18,294,279 (GRCm39) Q376L probably damaging Het
Psmd4 T C 3: 94,942,562 (GRCm39) D6G possibly damaging Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Rala T A 13: 18,057,031 (GRCm39) E185V probably benign Het
Sall4 A G 2: 168,598,043 (GRCm39) S266P probably damaging Het
Scn10a T C 9: 119,520,628 (GRCm39) T91A probably damaging Het
Synrg T C 11: 83,892,746 (GRCm39) F613S probably damaging Het
Tekt1 A G 11: 72,235,720 (GRCm39) I376T probably damaging Het
Tet2 T C 3: 133,185,124 (GRCm39) K1182R possibly damaging Het
Thbs4 T C 13: 92,909,672 (GRCm39) N375S probably benign Het
Thoc5 A G 11: 4,870,372 (GRCm39) probably benign Het
Tmprss9 G T 10: 80,723,301 (GRCm39) V254F probably damaging Het
Tro G A X: 149,438,048 (GRCm39) T203I possibly damaging Het
Ttbk2 A T 2: 120,604,296 (GRCm39) probably benign Het
Usf2 A G 7: 30,655,256 (GRCm39) V133A probably benign Het
Wap G A 11: 6,588,550 (GRCm39) Q25* probably null Het
Xdh C T 17: 74,200,590 (GRCm39) probably benign Het
Xrn1 G T 9: 95,851,338 (GRCm39) M153I probably benign Het
Other mutations in Pcdha1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00714:Pcdha1 APN 18 37,065,228 (GRCm39) missense probably damaging 0.99
R0062:Pcdha1 UTSW 18 37,139,681 (GRCm39) missense probably benign 0.08
R0108:Pcdha1 UTSW 18 37,131,809 (GRCm39) missense probably benign
R0543:Pcdha1 UTSW 18 37,318,121 (GRCm39) missense probably damaging 1.00
R1599:Pcdha1 UTSW 18 37,318,290 (GRCm39) missense probably damaging 1.00
R1717:Pcdha1 UTSW 18 37,065,237 (GRCm39) missense probably benign 0.01
R2301:Pcdha1 UTSW 18 37,289,236 (GRCm39) missense probably damaging 1.00
R3038:Pcdha1 UTSW 18 37,064,064 (GRCm39) missense probably damaging 1.00
R3086:Pcdha1 UTSW 18 37,064,001 (GRCm39) missense possibly damaging 0.95
R3693:Pcdha1 UTSW 18 37,065,361 (GRCm39) missense possibly damaging 0.95
R3881:Pcdha1 UTSW 18 37,064,454 (GRCm39) missense possibly damaging 0.91
R4012:Pcdha1 UTSW 18 37,064,189 (GRCm39) missense probably benign 0.02
R4540:Pcdha1 UTSW 18 37,064,680 (GRCm39) missense probably damaging 1.00
R4597:Pcdha1 UTSW 18 37,064,959 (GRCm39) missense possibly damaging 0.64
R4678:Pcdha1 UTSW 18 37,063,965 (GRCm39) missense probably benign 0.00
R4998:Pcdha1 UTSW 18 37,065,469 (GRCm39) missense probably damaging 1.00
R5466:Pcdha1 UTSW 18 37,065,312 (GRCm39) missense possibly damaging 0.73
R5518:Pcdha1 UTSW 18 37,065,415 (GRCm39) missense probably benign 0.23
R5673:Pcdha1 UTSW 18 37,063,726 (GRCm39) missense probably damaging 1.00
R5925:Pcdha1 UTSW 18 37,063,724 (GRCm39) missense probably damaging 1.00
R5942:Pcdha1 UTSW 18 37,063,444 (GRCm39) missense probably damaging 1.00
R5963:Pcdha1 UTSW 18 37,064,224 (GRCm39) missense probably damaging 0.99
R6034:Pcdha1 UTSW 18 37,063,651 (GRCm39) missense probably damaging 1.00
R6034:Pcdha1 UTSW 18 37,063,651 (GRCm39) missense probably damaging 1.00
R6107:Pcdha1 UTSW 18 37,065,354 (GRCm39) missense probably benign 0.00
R6329:Pcdha1 UTSW 18 37,065,301 (GRCm39) missense probably damaging 1.00
R6479:Pcdha1 UTSW 18 37,064,509 (GRCm39) missense probably benign 0.28
R6503:Pcdha1 UTSW 18 37,064,724 (GRCm39) missense probably damaging 1.00
R6907:Pcdha1 UTSW 18 37,064,124 (GRCm39) missense probably benign 0.01
R7011:Pcdha1 UTSW 18 37,063,588 (GRCm39) missense probably damaging 1.00
R7030:Pcdha1 UTSW 18 37,292,326 (GRCm39) missense probably damaging 0.97
R7314:Pcdha1 UTSW 18 37,064,553 (GRCm39) missense probably damaging 0.99
R7343:Pcdha1 UTSW 18 37,063,702 (GRCm39) missense probably damaging 1.00
R7699:Pcdha1 UTSW 18 37,064,115 (GRCm39) missense probably damaging 0.98
R7700:Pcdha1 UTSW 18 37,064,115 (GRCm39) missense probably damaging 0.98
R7768:Pcdha1 UTSW 18 37,065,220 (GRCm39) missense probably damaging 1.00
R7780:Pcdha1 UTSW 18 37,065,511 (GRCm39) missense probably benign 0.28
R7800:Pcdha1 UTSW 18 37,064,426 (GRCm39) missense probably damaging 1.00
R7917:Pcdha1 UTSW 18 37,065,254 (GRCm39) missense possibly damaging 0.64
R8325:Pcdha1 UTSW 18 37,063,867 (GRCm39) missense possibly damaging 0.47
R8699:Pcdha1 UTSW 18 37,064,076 (GRCm39) missense probably benign 0.00
R9400:Pcdha1 UTSW 18 37,064,760 (GRCm39) missense probably benign 0.43
R9513:Pcdha1 UTSW 18 37,065,286 (GRCm39) missense probably benign 0.26
R9746:Pcdha1 UTSW 18 37,065,713 (GRCm39) missense probably benign
Predicted Primers
Posted On 2017-04-14