Incidental Mutation 'PIT4581001:Pcdhga5'
ID 556535
Institutional Source Beutler Lab
Gene Symbol Pcdhga5
Ensembl Gene ENSMUSG00000103567
Gene Name protocadherin gamma subfamily A, 5
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.231) question?
Stock # PIT4581001 (G1)
Quality Score 196.009
Status Not validated
Chromosome 18
Chromosomal Location 37827433-37974926 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 37829910 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 786 (E786G)
Ref Sequence ENSEMBL: ENSMUSP00000141893 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073447] [ENSMUST00000115661] [ENSMUST00000192931] [ENSMUST00000193414] [ENSMUST00000193869] [ENSMUST00000194190] [ENSMUST00000194418] [ENSMUST00000194544] [ENSMUST00000195112]
AlphaFold Q91XY3
Predicted Effect probably benign
Transcript: ENSMUST00000073447
SMART Domains Protein: ENSMUSP00000073150
Gene: ENSMUSG00000104346

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
CA 42 128 2.15e-2 SMART
CA 152 237 4.8e-13 SMART
CA 261 342 9.36e-25 SMART
CA 366 447 6.62e-25 SMART
CA 471 557 6.72e-26 SMART
CA 588 666 2.15e-15 SMART
Pfam:Cadherin_C_2 685 768 4.8e-24 PFAM
Pfam:Cadherin_tail 805 928 8.1e-38 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: ENSMUST00000192931
SMART Domains Protein: ENSMUSP00000141348
Gene: ENSMUSG00000103037

DomainStartEndE-ValueType
CA 36 119 8e-3 SMART
CA 143 228 1.34e-20 SMART
CA 252 333 1.52e-24 SMART
CA 357 438 9.22e-24 SMART
CA 462 548 1.24e-24 SMART
CA 579 660 1.3e-9 SMART
transmembrane domain 679 701 N/A INTRINSIC
low complexity region 899 918 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000193414
AA Change: E786G

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000141893
Gene: ENSMUSG00000103567
AA Change: E786G

DomainStartEndE-ValueType
CA 45 131 2.45e-1 SMART
CA 155 240 1.05e-18 SMART
CA 264 345 6.52e-24 SMART
CA 369 450 5.99e-23 SMART
CA 474 560 6.99e-24 SMART
CA 591 669 5.31e-15 SMART
transmembrane domain 692 714 N/A INTRINSIC
low complexity region 913 932 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000193869
SMART Domains Protein: ENSMUSP00000141482
Gene: ENSMUSG00000103332

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
CA 45 131 1.64e-2 SMART
CA 155 240 6.42e-23 SMART
CA 264 345 1.76e-20 SMART
CA 369 450 2.27e-23 SMART
CA 474 560 1.5e-23 SMART
CA 591 669 1.17e-16 SMART
transmembrane domain 692 714 N/A INTRINSIC
low complexity region 912 931 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000193984
Predicted Effect probably benign
Transcript: ENSMUST00000194190
SMART Domains Protein: ENSMUSP00000142062
Gene: ENSMUSG00000103144

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
CA 31 131 3.16e-2 SMART
CA 155 240 5.39e-16 SMART
CA 264 345 6.72e-26 SMART
CA 369 450 1.32e-24 SMART
CA 474 560 4.17e-22 SMART
CA 591 669 4.48e-13 SMART
transmembrane domain 692 714 N/A INTRINSIC
low complexity region 912 931 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000194418
SMART Domains Protein: ENSMUSP00000142140
Gene: ENSMUSG00000103677

DomainStartEndE-ValueType
CA 44 130 1.64e-2 SMART
CA 154 239 3.93e-18 SMART
CA 263 344 5.22e-23 SMART
CA 368 449 5.02e-25 SMART
CA 473 559 2.07e-26 SMART
CA 590 668 6.84e-18 SMART
transmembrane domain 690 712 N/A INTRINSIC
low complexity region 911 930 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000194544
SMART Domains Protein: ENSMUSP00000141847
Gene: ENSMUSG00000102836

DomainStartEndE-ValueType
Blast:CA 18 66 5e-20 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000195112
SMART Domains Protein: ENSMUSP00000141449
Gene: ENSMUSG00000102748

DomainStartEndE-ValueType
CA 24 130 8.18e-3 SMART
CA 154 239 1.39e-18 SMART
CA 263 344 7.91e-23 SMART
CA 368 449 2.27e-23 SMART
CA 473 559 1.24e-24 SMART
CA 590 671 1.3e-9 SMART
transmembrane domain 690 712 N/A INTRINSIC
low complexity region 909 928 N/A INTRINSIC
Coding Region Coverage
  • 1x: 92.9%
  • 3x: 90.6%
  • 10x: 84.5%
  • 20x: 71.1%
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 gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam15 T C 3: 89,251,139 (GRCm39) H522R probably benign Het
Adcy8 A T 15: 64,626,666 (GRCm39) I724N probably damaging Het
Cdk2ap1rt A G 11: 48,716,971 (GRCm39) I69T possibly damaging Het
Cstdc6 T C 16: 36,143,294 (GRCm39) I52V probably benign Het
Ctsj A T 13: 61,150,370 (GRCm39) C210S probably damaging Het
Cyp2d12 A G 15: 82,442,652 (GRCm39) E365G probably damaging Het
Dbi A T 1: 120,047,642 (GRCm39) V85E probably damaging Het
Dhrs7b A G 11: 60,742,723 (GRCm39) I153M possibly damaging Het
Dock10 C A 1: 80,483,163 (GRCm39) C2096F probably damaging Het
Eid3 T A 10: 82,703,589 (GRCm39) I350K probably damaging Het
Fam83b A T 9: 76,398,434 (GRCm39) F890I probably damaging Het
Fras1 G A 5: 96,703,160 (GRCm39) D308N probably benign Het
Ftsj3 T C 11: 106,140,302 (GRCm39) D822G unknown Het
Gabra5 T C 7: 57,138,605 (GRCm39) T148A probably damaging Het
Gad1 A G 2: 70,430,011 (GRCm39) D526G probably benign Het
Gm21698 T A 5: 26,192,350 (GRCm39) T79S probably benign Het
Gon4l T G 3: 88,802,821 (GRCm39) V1144G probably damaging Het
Ighv1-24 A T 12: 114,736,803 (GRCm39) N32K probably benign Het
Islr T C 9: 58,064,484 (GRCm39) N341S possibly damaging Het
Mybph A G 1: 134,122,479 (GRCm39) T175A probably benign Het
Mycn T C 12: 12,990,244 (GRCm39) K51E possibly damaging Het
Myh14 T C 7: 44,262,906 (GRCm39) N1763D probably benign Het
Myrip T C 9: 120,296,583 (GRCm39) S831P probably damaging Het
Neb G T 2: 52,178,814 (GRCm39) A1314E probably damaging Het
Notch2 T C 3: 98,011,778 (GRCm39) Y599H probably damaging Het
Npr1 C A 3: 90,369,564 (GRCm39) G387V probably damaging Het
Or6e1 T A 14: 54,519,995 (GRCm39) D119V probably damaging Het
Orai2 G A 5: 136,179,364 (GRCm39) T223M probably damaging Het
Pde6b A G 5: 108,576,374 (GRCm39) T749A probably benign Het
Pdzrn3 A G 6: 101,128,464 (GRCm39) V734A probably benign Het
Pkd1l1 GCC GCCC 11: 8,866,298 (GRCm39) probably null Het
Recql5 C A 11: 115,823,682 (GRCm39) K21N possibly damaging Het
Rimbp3 G A 16: 17,028,580 (GRCm39) S668N possibly damaging Het
Sdr42e1 A T 8: 118,390,257 (GRCm39) I128N probably damaging Het
Shprh TAAAA T 10: 11,068,238 (GRCm39) probably null Het
Slc15a2 A T 16: 36,592,405 (GRCm39) C251S probably benign Het
Slc17a4 A T 13: 24,086,001 (GRCm39) S329T probably damaging Het
Slc35a1 A G 4: 34,669,501 (GRCm39) V246A possibly damaging Het
Slc37a2 A T 9: 37,148,701 (GRCm39) S260R probably benign Het
Slco6d1 A T 1: 98,351,050 (GRCm39) I177L possibly damaging Het
Tmcc1 A G 6: 116,020,417 (GRCm39) V345A Het
Tmod2 T C 9: 75,504,583 (GRCm39) Y12C probably damaging Het
Top2a A T 11: 98,893,790 (GRCm39) W1035R probably damaging Het
Trpc1 A G 9: 95,618,974 (GRCm39) S126P probably benign Het
Ttn A G 2: 76,564,305 (GRCm39) S28576P probably damaging Het
Vmn1r16 A T 6: 57,299,858 (GRCm39) W255R probably benign Het
Vmn2r5 T A 3: 64,411,348 (GRCm39) K407* probably null Het
Vps13b G T 15: 35,534,409 (GRCm39) W908C probably damaging Het
Ykt6 A G 11: 5,912,747 (GRCm39) K150E possibly damaging Het
Zbtb2 A G 10: 4,319,265 (GRCm39) Y254H possibly damaging Het
Zfp217 A G 2: 169,956,503 (GRCm39) S832P probably benign Het
Zfp595 A G 13: 67,465,949 (GRCm39) S108P probably benign Het
Zfp786 A T 6: 47,796,756 (GRCm39) F727L probably damaging Het
Zzef1 G A 11: 72,790,498 (GRCm39) V2151I probably benign Het
Other mutations in Pcdhga5
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3775:Pcdhga5 UTSW 18 37,828,167 (GRCm39) missense possibly damaging 0.89
R4232:Pcdhga5 UTSW 18 37,829,001 (GRCm39) missense possibly damaging 0.54
R4234:Pcdhga5 UTSW 18 37,829,001 (GRCm39) missense possibly damaging 0.54
R4235:Pcdhga5 UTSW 18 37,829,001 (GRCm39) missense possibly damaging 0.54
R4815:Pcdhga5 UTSW 18 37,828,247 (GRCm39) missense probably damaging 0.99
R4884:Pcdhga5 UTSW 18 37,827,680 (GRCm39) missense probably damaging 0.99
R5159:Pcdhga5 UTSW 18 37,828,719 (GRCm39) missense probably benign 0.24
R5279:Pcdhga5 UTSW 18 37,827,774 (GRCm39) missense probably benign 0.12
R5393:Pcdhga5 UTSW 18 37,829,720 (GRCm39) missense probably benign 0.25
R6271:Pcdhga5 UTSW 18 37,829,735 (GRCm39) missense probably benign 0.01
R6574:Pcdhga5 UTSW 18 37,828,434 (GRCm39) missense probably damaging 1.00
R7727:Pcdhga5 UTSW 18 37,828,098 (GRCm39) missense probably benign 0.41
R7747:Pcdhga5 UTSW 18 37,829,835 (GRCm39) missense possibly damaging 0.69
R7775:Pcdhga5 UTSW 18 37,828,578 (GRCm39) missense probably damaging 1.00
R7778:Pcdhga5 UTSW 18 37,828,578 (GRCm39) missense probably damaging 1.00
R7819:Pcdhga5 UTSW 18 37,829,633 (GRCm39) missense probably damaging 1.00
R8745:Pcdhga5 UTSW 18 37,828,974 (GRCm39) missense possibly damaging 0.86
R8773:Pcdhga5 UTSW 18 37,829,823 (GRCm39) missense probably benign 0.07
R8780:Pcdhga5 UTSW 18 37,828,826 (GRCm39) missense probably benign 0.00
R8783:Pcdhga5 UTSW 18 37,828,596 (GRCm39) missense probably benign 0.00
R9072:Pcdhga5 UTSW 18 37,829,537 (GRCm39) missense probably benign 0.00
R9150:Pcdhga5 UTSW 18 37,827,933 (GRCm39) missense probably damaging 1.00
Z1177:Pcdhga5 UTSW 18 37,828,587 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACTCTACCTAGTGGTTTCGGTG -3'
(R):5'- CAAATGATGCTCCACTGTATCC -3'

Sequencing Primer
(F):5'- TTCAGACTTCCACAGGCAGATTGG -3'
(R):5'- ATGATGCTCCACTGTATCCAATTTTG -3'
Posted On 2019-06-07