Incidental Mutation 'R5484:Pcdha9'
ID 430342
Institutional Source Beutler Lab
Gene Symbol Pcdha9
Ensembl Gene ENSMUSG00000103770
Gene Name protocadherin alpha 9
Synonyms
MMRRC Submission 043045-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.684) question?
Stock # R5484 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 37130933-37320710 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 37131156 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 75 (V75E)
Ref Sequence ENSEMBL: ENSMUSP00000111323 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070797] [ENSMUST00000115659] [ENSMUST00000115661] [ENSMUST00000115662] [ENSMUST00000192168] [ENSMUST00000192295] [ENSMUST00000192503] [ENSMUST00000193839] [ENSMUST00000192631] [ENSMUST00000194544] [ENSMUST00000193389] [ENSMUST00000194751] [ENSMUST00000195590] [ENSMUST00000194038] [ENSMUST00000193777] [ENSMUST00000192512]
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 damaging
Transcript: ENSMUST00000115659
AA Change: V75E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000111323
Gene: ENSMUSG00000103770
AA Change: V75E

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: 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: 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: ENSMUST00000194544
SMART Domains Protein: ENSMUSP00000141847
Gene: ENSMUSG00000102836

DomainStartEndE-ValueType
Blast:CA 18 66 5e-20 BLAST
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
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: 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: 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: 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
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.3%
  • 20x: 91.4%
Validation Efficiency 97% (76/78)
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
4921509C19Rik T C 2: 151,313,851 (GRCm39) H609R probably benign Het
Abca6 A T 11: 110,074,899 (GRCm39) V1388E probably damaging Het
Alx1 T A 10: 102,861,177 (GRCm39) D117V probably damaging Het
Ascl4 T C 10: 85,764,401 (GRCm39) L16P probably damaging Het
Atp4a G A 7: 30,420,097 (GRCm39) probably benign Het
Btnl10 G A 11: 58,814,651 (GRCm39) V444M probably damaging Het
Camkv A T 9: 107,823,345 (GRCm39) N124Y probably damaging Het
Catsperb T C 12: 101,542,175 (GRCm39) L625P probably benign Het
Ccdc171 A G 4: 83,612,199 (GRCm39) I973V probably benign Het
Celsr1 T C 15: 85,815,483 (GRCm39) D1844G probably benign Het
Chd7 G C 4: 8,828,258 (GRCm39) K1066N probably damaging Het
Cmklr1 C G 5: 113,752,990 (GRCm39) D4H possibly damaging Het
Corin T C 5: 72,515,827 (GRCm39) D409G probably benign Het
Cry1 T C 10: 84,982,588 (GRCm39) probably null Het
Cttnbp2 T A 6: 18,427,689 (GRCm39) probably benign Het
Cyrib T A 15: 63,815,056 (GRCm39) T139S probably damaging Het
Dmxl1 T A 18: 50,022,531 (GRCm39) V1623E probably damaging Het
Dnah6 G T 6: 73,069,099 (GRCm39) D2477E possibly damaging Het
Dnajb12 GC G 10: 59,728,574 (GRCm39) probably null Het
Dop1a C G 9: 86,427,341 (GRCm39) R2164G probably damaging Het
Dsp A G 13: 38,368,014 (GRCm39) T678A possibly damaging Het
Farsb A C 1: 78,452,833 (GRCm39) I51S probably damaging Het
Gm10220 T A 5: 26,322,930 (GRCm39) I161L possibly damaging Het
Gm10782 G T 13: 56,510,987 (GRCm39) noncoding transcript Het
Gm12830 A T 4: 114,702,248 (GRCm39) T137S unknown Het
Gopc A G 10: 52,234,942 (GRCm39) L67P probably damaging Het
Hmcn1 T C 1: 150,551,291 (GRCm39) I2655V probably benign Het
Hmcn2 C T 2: 31,283,066 (GRCm39) Q1981* probably null Het
Ifi209 T A 1: 173,468,640 (GRCm39) S157T probably benign Het
Ift56 T G 6: 38,366,057 (GRCm39) C124W probably benign Het
Iqcf1 A T 9: 106,379,107 (GRCm39) I74F probably damaging Het
Irf3 A T 7: 44,649,382 (GRCm39) R78W probably damaging Het
Kank4 T C 4: 98,663,022 (GRCm39) D722G probably benign Het
Loxl1 A G 9: 58,198,065 (GRCm39) V597A possibly damaging Het
Marveld1 T C 19: 42,136,272 (GRCm39) L62P probably damaging Het
Mga T G 2: 119,747,107 (GRCm39) D419E possibly damaging Het
Mroh2a A G 1: 88,186,386 (GRCm39) S64G probably benign Het
Mroh2b A G 15: 4,938,463 (GRCm39) K251E possibly damaging Het
Myh4 A G 11: 67,142,644 (GRCm39) E935G probably damaging Het
Nat8f2 C A 6: 85,844,994 (GRCm39) A123S possibly damaging Het
Niban1 A G 1: 151,593,837 (GRCm39) T841A probably benign Het
Or4d11 G A 19: 12,013,192 (GRCm39) L305F probably benign Het
Pebp4 A T 14: 70,200,991 (GRCm39) probably null Het
Pitx1 A G 13: 55,974,166 (GRCm39) S222P probably benign Het
Plekhg3 G A 12: 76,625,174 (GRCm39) V1339M possibly damaging Het
Plekhs1 C T 19: 56,468,260 (GRCm39) S276L possibly damaging Het
Plin4 T C 17: 56,411,932 (GRCm39) T700A possibly damaging Het
Plxnb2 T C 15: 89,048,412 (GRCm39) probably null Het
Pms2 T C 5: 143,864,943 (GRCm39) I675T probably damaging Het
Polrmt A G 10: 79,577,888 (GRCm39) L268P probably damaging Het
Rtp1 A G 16: 23,248,025 (GRCm39) T33A probably benign Het
Safb2 T C 17: 56,882,346 (GRCm39) probably benign Het
Sdk1 C A 5: 142,085,941 (GRCm39) P1383Q probably damaging Het
Setdb1 A T 3: 95,244,569 (GRCm39) C758S probably damaging Het
Sh3gl2 T C 4: 85,317,160 (GRCm39) probably benign Het
Slc13a2 G A 11: 78,295,648 (GRCm39) probably benign Het
Slc35b1 T C 11: 95,278,631 (GRCm39) Y126H probably damaging Het
Strip2 C A 6: 29,917,154 (GRCm39) probably benign Het
Tbx4 A G 11: 85,805,230 (GRCm39) T440A probably damaging Het
Tcf7l2 C A 19: 55,907,940 (GRCm39) probably null Het
Tgfb1 A C 7: 25,387,574 (GRCm39) D94A probably benign Het
Tmem132b T C 5: 125,864,797 (GRCm39) C968R probably damaging Het
Tmem176b T A 6: 48,811,467 (GRCm39) M61L probably benign Het
Tmem258 A G 19: 10,184,689 (GRCm39) probably null Het
Tpr T C 1: 150,302,639 (GRCm39) L1379S probably benign Het
Vmn2r44 T C 7: 8,383,123 (GRCm39) D157G possibly damaging Het
Wfdc8 T C 2: 164,439,649 (GRCm39) I244M probably benign Het
Zfp341 T C 2: 154,466,921 (GRCm39) S97P probably benign Het
Zfp655 T C 5: 145,180,445 (GRCm39) V101A probably benign Het
Zfp788 T C 7: 41,299,277 (GRCm39) S586P probably damaging Het
Zfp874b C T 13: 67,629,373 (GRCm39) V52I 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
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
R5975:Pcdha9 UTSW 18 37,132,164 (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'- TGGCACATTCATGGACTTTTAAGAC -3'
(R):5'- ACCTCCACGTGGAAAACCTG -3'

Sequencing Primer
(F):5'- CAAGAGAATGCTTCAGTGGTGATCTC -3'
(R):5'- TCCAGGTGGATGCTACACTC -3'
Posted On 2016-10-05