Incidental Mutation 'R5975:Pcdha9'
ID 471732
Institutional Source Beutler Lab
Gene Symbol Pcdha9
Ensembl Gene ENSMUSG00000103770
Gene Name protocadherin alpha 9
Synonyms
Accession Numbers
Essential gene? Possibly essential (E-score: 0.690) question?
Stock # R5975 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 37130933-37320710 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 37132164 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 411 (V411D)
Ref Sequence ENSEMBL: ENSMUSP00000111323 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070797] [ENSMUST00000115659] [ENSMUST00000115661] [ENSMUST00000115662] [ENSMUST00000192168] [ENSMUST00000192295] [ENSMUST00000192503] [ENSMUST00000194038] [ENSMUST00000195590] [ENSMUST00000194544] [ENSMUST00000194751] [ENSMUST00000192631] [ENSMUST00000193839] [ENSMUST00000193777] [ENSMUST00000192512] [ENSMUST00000193389]
AlphaFold Q91Y11
Predicted Effect probably benign
Transcript: ENSMUST00000070797
SMART Domains Protein: ENSMUSP00000068828
Gene: ENSMUSG00000103442

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 probably benign
Transcript: ENSMUST00000115659
AA Change: V411D

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000111323
Gene: ENSMUSG00000103770
AA Change: V411D

DomainStartEndE-ValueType
low complexity region 44 51 N/A INTRINSIC
CA 75 161 2.46e-2 SMART
CA 185 270 8.1e-20 SMART
CA 294 378 1.69e-22 SMART
CA 402 483 1.52e-24 SMART
CA 507 593 5.68e-24 SMART
CA 624 705 6.69e-12 SMART
transmembrane domain 727 749 N/A INTRINSIC
Pfam:Cadherin_tail 828 962 5.6e-58 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: ENSMUST00000115662
SMART Domains Protein: ENSMUSP00000111326
Gene: ENSMUSG00000104148

DomainStartEndE-ValueType
CA 45 131 6.34e-2 SMART
CA 155 240 2.98e-18 SMART
CA 264 348 2.17e-29 SMART
CA 372 453 2.84e-24 SMART
CA 477 563 5.02e-25 SMART
CA 594 675 8.16e-16 SMART
transmembrane domain 695 717 N/A INTRINSIC
low complexity region 916 940 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000192168
SMART Domains Protein: ENSMUSP00000142293
Gene: ENSMUSG00000103092

DomainStartEndE-ValueType
CA 21 131 2.2e-2 SMART
CA 155 240 2.05e-21 SMART
CA 264 348 8.81e-21 SMART
CA 372 453 2.01e-24 SMART
CA 477 563 1.42e-24 SMART
CA 591 673 1.63e-15 SMART
transmembrane domain 693 715 N/A INTRINSIC
low complexity region 902 926 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000192295
SMART Domains Protein: ENSMUSP00000142103
Gene: ENSMUSG00000104252

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 477 568 5.38e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000192503
SMART Domains Protein: ENSMUSP00000141989
Gene: ENSMUSG00000102312

DomainStartEndE-ValueType
low complexity region 11 17 N/A INTRINSIC
CA 42 128 3.78e-2 SMART
CA 152 237 8.94e-22 SMART
CA 261 345 3.74e-24 SMART
CA 369 450 1.09e-25 SMART
CA 474 560 1.42e-24 SMART
CA 588 670 2.96e-13 SMART
transmembrane domain 692 714 N/A INTRINSIC
low complexity region 910 934 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000194038
SMART Domains Protein: ENSMUSP00000142159
Gene: ENSMUSG00000103800

DomainStartEndE-ValueType
CA 20 131 6.34e-2 SMART
CA 155 240 4.27e-19 SMART
CA 264 348 2.04e-25 SMART
CA 372 453 2.84e-24 SMART
CA 477 563 9.88e-24 SMART
CA 594 676 8.62e-15 SMART
transmembrane domain 699 721 N/A INTRINSIC
low complexity region 914 938 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000195590
SMART Domains Protein: ENSMUSP00000141355
Gene: ENSMUSG00000104148

DomainStartEndE-ValueType
CA 45 131 6.34e-2 SMART
CA 155 240 2.98e-18 SMART
CA 264 348 2.17e-29 SMART
CA 372 453 2.84e-24 SMART
CA 477 563 5.02e-25 SMART
CA 594 675 8.16e-16 SMART
transmembrane domain 695 717 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: ENSMUST00000194751
SMART Domains Protein: ENSMUSP00000142285
Gene: ENSMUSG00000103707

DomainStartEndE-ValueType
low complexity region 15 21 N/A INTRINSIC
Pfam:Cadherin_2 29 112 4.5e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000192631
SMART Domains Protein: ENSMUSP00000142156
Gene: ENSMUSG00000104318

DomainStartEndE-ValueType
CA 21 131 2.58e-2 SMART
CA 155 240 4.27e-19 SMART
CA 264 348 1.42e-24 SMART
CA 372 453 9.36e-25 SMART
CA 477 563 1.42e-24 SMART
CA 594 671 4.03e-6 SMART
transmembrane domain 696 718 N/A INTRINSIC
low complexity region 905 929 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000193839
SMART Domains Protein: ENSMUSP00000142308
Gene: ENSMUSG00000103442

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
Predicted Effect probably benign
Transcript: ENSMUST00000193777
SMART Domains Protein: ENSMUSP00000141587
Gene: ENSMUSG00000103707

DomainStartEndE-ValueType
CA 21 131 5.67e-2 SMART
CA 155 240 4.72e-21 SMART
CA 264 348 1.9e-25 SMART
CA 372 453 3.31e-25 SMART
CA 477 563 1.42e-24 SMART
CA 594 676 5.91e-13 SMART
low complexity region 914 938 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000192512
SMART Domains Protein: ENSMUSP00000141408
Gene: ENSMUSG00000104252

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
low complexity region 915 939 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000193984
Predicted Effect probably benign
Transcript: ENSMUST00000193389
SMART Domains Protein: ENSMUSP00000141459
Gene: ENSMUSG00000103707

DomainStartEndE-ValueType
CA 21 131 5.67e-2 SMART
CA 155 240 4.72e-21 SMART
CA 264 348 1.9e-25 SMART
CA 372 453 3.31e-25 SMART
CA 477 563 1.42e-24 SMART
CA 594 676 5.91e-13 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.3%
Validation Efficiency 98% (80/82)
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]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430038I01Rik T C 7: 136,989,021 (GRCm39) probably benign Het
Abhd14a A T 9: 106,321,150 (GRCm39) probably null Het
Actn2 T C 13: 12,355,378 (GRCm39) N2D probably benign Het
Adcy9 T C 16: 4,129,431 (GRCm39) E722G probably damaging Het
Alox12 C A 11: 70,133,609 (GRCm39) V572L possibly damaging Het
Ankrd11 T C 8: 123,616,488 (GRCm39) I2434V possibly damaging Het
Anks1 T A 17: 28,210,421 (GRCm39) probably null Het
Bltp1 C T 3: 37,023,370 (GRCm39) T2233I possibly damaging Het
Bpifa3 T A 2: 153,978,241 (GRCm39) S148T probably damaging Het
Bptf C T 11: 106,926,690 (GRCm39) probably benign Het
Cabin1 A T 10: 75,493,673 (GRCm39) L1655H probably damaging Het
Ccdc13 G T 9: 121,656,301 (GRCm39) Q171K probably benign Het
Ccdc33 T A 9: 58,024,761 (GRCm39) Q155L possibly damaging Het
Cckbr G A 7: 105,119,826 (GRCm39) G280E probably benign Het
Cdk11b G A 4: 155,732,697 (GRCm39) probably benign Het
Celsr1 G T 15: 85,803,239 (GRCm39) probably null Het
Cenpj A T 14: 56,801,523 (GRCm39) I150N possibly damaging Het
Cep135 C A 5: 76,788,737 (GRCm39) A1110E possibly damaging Het
Chit1 C A 1: 134,074,364 (GRCm39) H224N probably damaging Het
Cul5 T C 9: 53,534,093 (GRCm39) R680G probably damaging Het
Dhx58 C A 11: 100,593,035 (GRCm39) R224L probably damaging Het
Dlx1 C A 2: 71,361,353 (GRCm39) N122K probably damaging Het
Dnah5 A C 15: 28,234,428 (GRCm39) D279A probably damaging Het
Dnai4 G A 4: 102,906,786 (GRCm39) P676S probably benign Het
Efcab3 A G 11: 104,578,375 (GRCm39) probably benign Het
Enpp3 A G 10: 24,650,740 (GRCm39) W799R probably benign Het
Ercc5 A G 1: 44,212,566 (GRCm39) T675A probably benign Het
Farsa T A 8: 85,591,061 (GRCm39) probably null Het
Fbxw15 A T 9: 109,384,320 (GRCm39) V397D probably damaging Het
Fcrl5 G A 3: 87,349,410 (GRCm39) V62I probably benign Het
Gart A G 16: 91,421,224 (GRCm39) S815P probably damaging Het
Glrx5 A G 12: 105,006,582 (GRCm39) N111S possibly damaging Het
Gm10845 A G 14: 80,100,614 (GRCm39) noncoding transcript Het
Gm9925 T A 18: 74,198,587 (GRCm39) probably benign Het
Gsdme T C 6: 50,204,339 (GRCm39) N206S probably benign Het
Helz2 T C 2: 180,872,843 (GRCm39) S2459G probably benign Het
Hnrnpul1 A G 7: 25,453,784 (GRCm39) S93P possibly damaging Het
Ints2 A T 11: 86,117,574 (GRCm39) I716N possibly damaging Het
Lmnb2 G A 10: 80,740,962 (GRCm39) Q248* probably null Het
Map3k7cl A G 16: 87,367,209 (GRCm39) I32V probably benign Het
Mfsd4b4 A T 10: 39,768,466 (GRCm39) I255N probably benign Het
Myh6 A G 14: 55,187,965 (GRCm39) I1163T probably benign Het
Nphs1 A T 7: 30,165,540 (GRCm39) T636S possibly damaging Het
Ntsr1 T A 2: 180,142,581 (GRCm39) L124Q probably damaging Het
Obscn C T 11: 59,013,445 (GRCm39) probably null Het
P4ha2 G A 11: 54,017,238 (GRCm39) probably null Het
Pkhd1l1 A T 15: 44,389,384 (GRCm39) I1380F probably damaging Het
Plekha1 T C 7: 130,493,983 (GRCm39) V106A probably benign Het
Plekhm1 A T 11: 103,267,517 (GRCm39) V818E possibly damaging Het
Pprc1 T G 19: 46,053,809 (GRCm39) probably benign Het
Prb1c A G 6: 132,339,036 (GRCm39) S61P unknown Het
Prmt9 T C 8: 78,287,647 (GRCm39) probably benign Het
Rab26 T C 17: 24,749,373 (GRCm39) N193D possibly damaging Het
Rnf111 A G 9: 70,336,862 (GRCm39) S942P probably damaging Het
Scgb2b18 T C 7: 32,872,650 (GRCm39) T52A probably damaging Het
Syt3 C T 7: 44,042,187 (GRCm39) Q349* probably null Het
Tas2r107 T C 6: 131,636,743 (GRCm39) N102S probably benign Het
Tas2r126 T A 6: 42,411,934 (GRCm39) Y156N possibly damaging Het
Tcaf2 A T 6: 42,619,712 (GRCm39) I105N probably benign Het
Tet1 A C 10: 62,715,552 (GRCm39) M81R probably benign Het
Togaram2 T C 17: 72,036,200 (GRCm39) Y897H probably damaging Het
Trerf1 A T 17: 47,625,197 (GRCm39) noncoding transcript Het
Ttn G A 2: 76,591,579 (GRCm39) T12703I probably damaging Het
Unc79 A G 12: 103,091,885 (GRCm39) K1735E possibly damaging Het
Usp54 G A 14: 20,633,419 (GRCm39) T372I possibly damaging Het
Wdr24 T C 17: 26,046,102 (GRCm39) S476P probably benign Het
Zbtb1 T C 12: 76,433,049 (GRCm39) I345T possibly damaging Het
Zcrb1 T A 15: 93,293,496 (GRCm39) I29L probably benign Het
Zfp341 T A 2: 154,472,361 (GRCm39) C315S probably damaging Het
Zfp623 C A 15: 75,820,012 (GRCm39) R323S probably benign Het
Zfp831 T A 2: 174,485,885 (GRCm39) Y187N possibly damaging Het
Other mutations in Pcdha9
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0761:Pcdha9 UTSW 18 37,133,016 (GRCm39) nonsense probably null
R2985:Pcdha9 UTSW 18 37,131,255 (GRCm39) missense possibly damaging 0.88
R3926:Pcdha9 UTSW 18 37,132,465 (GRCm39) missense probably damaging 1.00
R4049:Pcdha9 UTSW 18 37,130,995 (GRCm39) missense probably benign 0.16
R4409:Pcdha9 UTSW 18 37,132,198 (GRCm39) missense probably benign 0.12
R4816:Pcdha9 UTSW 18 37,132,511 (GRCm39) missense probably damaging 1.00
R4905:Pcdha9 UTSW 18 37,131,945 (GRCm39) missense probably damaging 0.96
R4991:Pcdha9 UTSW 18 37,131,398 (GRCm39) missense probably damaging 0.99
R5484:Pcdha9 UTSW 18 37,131,156 (GRCm39) missense probably damaging 1.00
R5487:Pcdha9 UTSW 18 37,132,703 (GRCm39) missense probably damaging 1.00
R5617:Pcdha9 UTSW 18 37,131,869 (GRCm39) missense probably benign 0.03
R5637:Pcdha9 UTSW 18 37,131,426 (GRCm39) missense probably benign 0.00
R5694:Pcdha9 UTSW 18 37,131,425 (GRCm39) missense probably benign 0.00
R6089:Pcdha9 UTSW 18 37,131,551 (GRCm39) missense probably benign 0.00
R6176:Pcdha9 UTSW 18 37,131,984 (GRCm39) missense probably benign 0.24
R6220:Pcdha9 UTSW 18 37,131,531 (GRCm39) missense probably damaging 1.00
R6238:Pcdha9 UTSW 18 37,132,028 (GRCm39) missense probably benign 0.43
R6391:Pcdha9 UTSW 18 37,130,972 (GRCm39) missense probably benign 0.12
R6622:Pcdha9 UTSW 18 37,131,707 (GRCm39) missense possibly damaging 0.84
R6720:Pcdha9 UTSW 18 37,131,122 (GRCm39) missense probably damaging 0.99
R7239:Pcdha9 UTSW 18 37,131,551 (GRCm39) missense probably benign 0.06
R7624:Pcdha9 UTSW 18 37,132,849 (GRCm39) nonsense probably null
R7721:Pcdha9 UTSW 18 37,132,689 (GRCm39) missense probably benign
R8211:Pcdha9 UTSW 18 37,131,912 (GRCm39) missense possibly damaging 0.56
R8483:Pcdha9 UTSW 18 37,131,636 (GRCm39) missense probably benign 0.01
R8778:Pcdha9 UTSW 18 37,132,244 (GRCm39) missense possibly damaging 0.65
R8946:Pcdha9 UTSW 18 37,131,546 (GRCm39) missense possibly damaging 0.92
R8963:Pcdha9 UTSW 18 37,131,750 (GRCm39) missense probably benign 0.43
R8987:Pcdha9 UTSW 18 37,132,998 (GRCm39) missense probably benign 0.22
R9227:Pcdha9 UTSW 18 37,131,954 (GRCm39) missense probably damaging 1.00
R9287:Pcdha9 UTSW 18 37,132,281 (GRCm39) missense probably benign 0.00
R9439:Pcdha9 UTSW 18 37,131,527 (GRCm39) missense probably benign 0.07
Z1177:Pcdha9 UTSW 18 37,131,267 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCACGTGGATGCTACAGATAAAG -3'
(R):5'- ATTGTCGTTCACGTCAGCCAC -3'

Sequencing Primer
(F):5'- AGGATACCCACCTATGGTTGC -3'
(R):5'- ACCTCCACGGACACGCTG -3'
Posted On 2017-03-31