Incidental Mutation 'R5743:Pcdhga9'
ID 445698
Institutional Source Beutler Lab
Gene Symbol Pcdhga9
Ensembl Gene ENSMUSG00000102440
Gene Name protocadherin gamma subfamily A, 9
Synonyms
MMRRC Submission 043353-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.120) question?
Stock # R5743 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 37869989-37974916 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 37871859 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 563 (I563F)
Ref Sequence ENSEMBL: ENSMUSP00000089555 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003599] [ENSMUST00000066149] [ENSMUST00000073447] [ENSMUST00000091935] [ENSMUST00000115661] [ENSMUST00000192511] [ENSMUST00000192535] [ENSMUST00000192931] [ENSMUST00000195363] [ENSMUST00000193869] [ENSMUST00000193414] [ENSMUST00000194190] [ENSMUST00000194418] [ENSMUST00000194544] [ENSMUST00000195823] [ENSMUST00000195112]
AlphaFold Q91XX9
Predicted Effect probably benign
Transcript: ENSMUST00000003599
SMART Domains Protein: ENSMUSP00000003599
Gene: ENSMUSG00000103088

DomainStartEndE-ValueType
CA 47 131 8.06e-6 SMART
CA 155 240 2.29e-19 SMART
CA 264 345 3.36e-26 SMART
CA 369 450 4.94e-24 SMART
CA 474 560 7.6e-25 SMART
CA 591 672 9.18e-10 SMART
Pfam:Cadherin_C_2 687 768 3.5e-20 PFAM
Pfam:Cadherin_tail 807 930 8.1e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000066149
SMART Domains Protein: ENSMUSP00000067728
Gene: ENSMUSG00000103897

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
CA 31 131 4.84e-2 SMART
CA 155 240 1.48e-22 SMART
CA 264 345 1.14e-23 SMART
CA 369 450 9.44e-21 SMART
CA 474 560 1.03e-26 SMART
CA 591 669 3.64e-13 SMART
Pfam:Cadherin_C_2 688 772 3e-25 PFAM
Pfam:Cadherin_tail 809 932 8.1e-38 PFAM
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 damaging
Transcript: ENSMUST00000091935
AA Change: I563F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000089555
Gene: ENSMUSG00000102440
AA Change: I563F

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
CA 32 132 8.37e-3 SMART
CA 156 241 5.51e-22 SMART
CA 265 346 8.27e-26 SMART
CA 370 451 1.4e-23 SMART
CA 475 561 2.97e-27 SMART
CA 592 670 1.18e-12 SMART
Pfam:Cadherin_C_2 688 772 3.9e-24 PFAM
Pfam:Cadherin_tail 809 932 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: ENSMUST00000192511
SMART Domains Protein: ENSMUSP00000141704
Gene: ENSMUSG00000103472

DomainStartEndE-ValueType
CA 47 133 1.57e-2 SMART
CA 157 242 3.24e-19 SMART
CA 266 347 3.21e-23 SMART
CA 371 452 9.08e-23 SMART
CA 476 562 1.32e-24 SMART
CA 593 671 3.5e-15 SMART
transmembrane domain 694 716 N/A INTRINSIC
low complexity region 916 935 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000192535
SMART Domains Protein: ENSMUSP00000142010
Gene: ENSMUSG00000103749

DomainStartEndE-ValueType
low complexity region 17 25 N/A INTRINSIC
CA 56 131 8e-3 SMART
CA 155 240 2.49e-20 SMART
CA 264 341 4.97e-29 SMART
CA 365 446 1.09e-25 SMART
CA 470 556 1.75e-24 SMART
CA 587 668 9.18e-10 SMART
transmembrane domain 687 709 N/A INTRINSIC
low complexity region 907 926 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194814
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193006
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: ENSMUST00000195363
SMART Domains Protein: ENSMUSP00000142227
Gene: ENSMUSG00000103585

DomainStartEndE-ValueType
low complexity region 17 25 N/A INTRINSIC
CA 56 131 1.47e-2 SMART
CA 155 240 1.23e-19 SMART
CA 264 343 5.54e-27 SMART
CA 367 448 5.09e-26 SMART
CA 472 558 1.98e-23 SMART
CA 589 670 1.3e-9 SMART
transmembrane domain 689 711 N/A INTRINSIC
low complexity region 893 912 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000193984
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: ENSMUST00000193414
SMART Domains Protein: ENSMUSP00000141893
Gene: ENSMUSG00000103567

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: 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: ENSMUST00000195823
SMART Domains Protein: ENSMUSP00000141803
Gene: ENSMUSG00000103793

DomainStartEndE-ValueType
low complexity region 13 24 N/A INTRINSIC
CA 45 131 2.41e-2 SMART
CA 155 240 5.77e-16 SMART
CA 264 345 1.1e-21 SMART
CA 369 450 2.75e-22 SMART
low complexity region 453 462 N/A INTRINSIC
CA 474 560 9.22e-24 SMART
CA 591 669 2.4e-13 SMART
transmembrane domain 692 714 N/A INTRINSIC
low complexity region 913 932 N/A INTRINSIC
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: 99.3%
  • 3x: 98.7%
  • 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 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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss2 A G 2: 155,416,536 (GRCm39) probably benign Het
Ankef1 A G 2: 136,391,629 (GRCm39) probably null Het
Arhgap20 T A 9: 51,728,027 (GRCm39) M80K probably benign Het
Arhgap29 T G 3: 121,775,560 (GRCm39) L37R probably damaging Het
Baiap3 G A 17: 25,463,759 (GRCm39) P906S probably benign Het
Caskin2 T A 11: 115,693,115 (GRCm39) N603I possibly damaging Het
Catspere2 G T 1: 177,950,328 (GRCm39) silent Het
Ccdc159 A T 9: 21,840,686 (GRCm39) E84D probably benign Het
Ccl1 T G 11: 82,067,712 (GRCm39) S73R possibly damaging Het
Cdh20 G T 1: 110,036,575 (GRCm39) C585F probably damaging Het
Cga T C 4: 34,904,108 (GRCm39) probably null Het
Coq5 A C 5: 115,417,941 (GRCm39) E57A probably benign Het
Cstf1 T A 2: 172,219,753 (GRCm39) L288Q probably damaging Het
Ctsll3 G T 13: 60,948,815 (GRCm39) Q47K probably benign Het
Dchs1 T A 7: 105,420,803 (GRCm39) Q539L probably benign Het
Fbxo46 C A 7: 18,870,420 (GRCm39) D346E probably damaging Het
Frem3 A T 8: 81,342,407 (GRCm39) T1567S probably damaging Het
Glce T A 9: 61,977,822 (GRCm39) T21S probably damaging Het
Gm19402 C T 10: 77,526,516 (GRCm39) D26N probably damaging Het
Gm20830 A G Y: 6,916,664 (GRCm39) Y152H probably damaging Het
Herc3 T C 6: 58,895,784 (GRCm39) Y1011H probably benign Het
Igkv6-29 C A 6: 70,115,584 (GRCm39) G70V possibly damaging Het
Il31ra G T 13: 112,664,021 (GRCm39) T552K possibly damaging Het
Itga2 A G 13: 115,021,042 (GRCm39) V86A probably damaging Het
Kcnk4 A T 19: 6,905,723 (GRCm39) N81K possibly damaging Het
Lrp2 C A 2: 69,297,221 (GRCm39) D3247Y probably damaging Het
Maml3 G T 3: 52,011,553 (GRCm39) F4L unknown Het
Mcpt1 A T 14: 56,256,072 (GRCm39) H37L probably benign Het
Mpdz T C 4: 81,339,425 (GRCm39) M1V probably null Het
Myom2 A T 8: 15,130,914 (GRCm39) K283N possibly damaging Het
Nrxn1 C A 17: 90,950,652 (GRCm39) R509L probably damaging Het
Ntng1 T A 3: 110,042,736 (GRCm39) Y30F probably damaging Het
Or52e7 A G 7: 104,685,363 (GRCm39) probably null Het
Or8c13 C A 9: 38,092,014 (GRCm39) C35F probably benign Het
Or8h8 C A 2: 86,753,549 (GRCm39) G109V probably benign Het
Orc6 A T 8: 86,029,585 (GRCm39) Q43L probably benign Het
Otogl G A 10: 107,692,862 (GRCm39) S874L possibly damaging Het
Pcdh9 T C 14: 94,124,160 (GRCm39) D670G probably damaging Het
Plxna1 A T 6: 89,333,511 (GRCm39) S373T probably damaging Het
Prop1 T C 11: 50,841,836 (GRCm39) D190G probably damaging Het
Qrich1 T A 9: 108,411,314 (GRCm39) Y280N probably damaging Het
Rasl10a T A 11: 5,009,519 (GRCm39) D102E probably benign Het
Rgs1 T C 1: 144,121,110 (GRCm39) Y187C probably damaging Het
Sema5b T A 16: 35,478,846 (GRCm39) W557R probably damaging Het
Sh2b3 A T 5: 121,966,520 (GRCm39) L198H probably damaging Het
Slc27a3 G T 3: 90,294,379 (GRCm39) T429K probably benign Het
Slc35f1 T G 10: 52,965,546 (GRCm39) D320E probably benign Het
Smug1 C A 15: 103,066,043 (GRCm39) probably null Het
Spata31f3 G A 4: 42,873,087 (GRCm39) T68I probably damaging Het
Ssrp1 T A 2: 84,871,512 (GRCm39) Y311* probably null Het
Svep1 T C 4: 58,096,223 (GRCm39) T1466A possibly damaging Het
Tmem130 A G 5: 144,687,749 (GRCm39) S196P probably damaging Het
Trim30d A T 7: 104,121,535 (GRCm39) C176* probably null Het
Ush2a A G 1: 188,169,159 (GRCm39) H1100R probably benign Het
Vezt A T 10: 93,832,957 (GRCm39) F151L probably benign Het
Vps35l A G 7: 118,396,234 (GRCm39) T538A possibly damaging Het
Zc3h3 G T 15: 75,651,380 (GRCm39) C638* probably null Het
Zfp128 C T 7: 12,618,654 (GRCm39) R51C probably damaging Het
Zfp141 T G 7: 42,125,855 (GRCm39) I206L possibly damaging Het
Zfp369 G T 13: 65,443,494 (GRCm39) K324N probably benign Het
Other mutations in Pcdhga9
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4468001:Pcdhga9 UTSW 18 37,872,527 (GRCm39) nonsense probably null
R2870:Pcdhga9 UTSW 18 37,870,524 (GRCm39) missense possibly damaging 0.93
R2870:Pcdhga9 UTSW 18 37,870,524 (GRCm39) missense possibly damaging 0.93
R2871:Pcdhga9 UTSW 18 37,870,524 (GRCm39) missense possibly damaging 0.93
R2871:Pcdhga9 UTSW 18 37,870,524 (GRCm39) missense possibly damaging 0.93
R2872:Pcdhga9 UTSW 18 37,870,524 (GRCm39) missense possibly damaging 0.93
R2872:Pcdhga9 UTSW 18 37,870,524 (GRCm39) missense possibly damaging 0.93
R2873:Pcdhga9 UTSW 18 37,870,524 (GRCm39) missense possibly damaging 0.93
R3727:Pcdhga9 UTSW 18 37,871,995 (GRCm39) missense probably benign 0.03
R3918:Pcdhga9 UTSW 18 37,871,995 (GRCm39) missense probably benign 0.03
R3939:Pcdhga9 UTSW 18 37,871,995 (GRCm39) missense probably benign 0.03
R3940:Pcdhga9 UTSW 18 37,871,995 (GRCm39) missense probably benign 0.03
R3946:Pcdhga9 UTSW 18 37,870,897 (GRCm39) missense probably damaging 1.00
R4397:Pcdhga9 UTSW 18 37,871,694 (GRCm39) missense probably damaging 1.00
R4576:Pcdhga9 UTSW 18 37,870,881 (GRCm39) missense probably damaging 1.00
R4617:Pcdhga9 UTSW 18 37,871,553 (GRCm39) missense probably damaging 1.00
R4810:Pcdhga9 UTSW 18 37,871,601 (GRCm39) missense possibly damaging 0.95
R4903:Pcdhga9 UTSW 18 37,872,058 (GRCm39) missense probably damaging 1.00
R4941:Pcdhga9 UTSW 18 37,871,185 (GRCm39) missense probably damaging 0.99
R5042:Pcdhga9 UTSW 18 37,870,630 (GRCm39) missense probably damaging 1.00
R5641:Pcdhga9 UTSW 18 37,871,301 (GRCm39) missense probably damaging 1.00
R6762:Pcdhga9 UTSW 18 37,870,321 (GRCm39) missense probably damaging 1.00
R7140:Pcdhga9 UTSW 18 37,872,184 (GRCm39) missense possibly damaging 0.67
R7619:Pcdhga9 UTSW 18 37,871,805 (GRCm39) missense probably damaging 1.00
R7804:Pcdhga9 UTSW 18 37,871,132 (GRCm39) missense probably damaging 1.00
R8088:Pcdhga9 UTSW 18 37,870,007 (GRCm39) intron probably benign
R8506:Pcdhga9 UTSW 18 37,871,737 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CGTCTCCATTAATTCTGACACTGG -3'
(R):5'- AGGCTTTGCTTGAGTGCATC -3'

Sequencing Primer
(F):5'- AATTCTGACACTGGCGTGC -3'
(R):5'- GAGTGCATCTCTCTCTAGCAGG -3'
Posted On 2016-11-21