Incidental Mutation 'R7721:Pcdha9'
ID 595250
Institutional Source Beutler Lab
Gene Symbol Pcdha9
Ensembl Gene ENSMUSG00000103770
Gene Name protocadherin alpha 9
Synonyms
MMRRC Submission 045777-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.684) question?
Stock # R7721 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 37130933-37320710 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 37132689 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 586 (Q586L)
Ref Sequence ENSEMBL: ENSMUSP00000111323 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070797] [ENSMUST00000115659] [ENSMUST00000115661] [ENSMUST00000115662] [ENSMUST00000192168] [ENSMUST00000192295] [ENSMUST00000192503] [ENSMUST00000192512] [ENSMUST00000192631] [ENSMUST00000193389] [ENSMUST00000193777] [ENSMUST00000193839] [ENSMUST00000194038] [ENSMUST00000194544] [ENSMUST00000194751] [ENSMUST00000195590]
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: Q586L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000111323
Gene: ENSMUSG00000103770
AA Change: Q586L

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: 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: 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: 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: 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: 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: ENSMUST00000193984
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: 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: 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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 98% (51/52)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad10 T C 5: 121,784,929 (GRCm39) probably null Het
Adamtsl3 T G 7: 82,255,728 (GRCm39) M1580R possibly damaging Het
Alg9 T C 9: 50,687,942 (GRCm39) I78T probably damaging Het
Ankmy2 G T 12: 36,207,143 (GRCm39) probably benign Het
Ankrd11 G T 8: 123,621,498 (GRCm39) L785M probably damaging Het
Atrnl1 T A 19: 57,684,763 (GRCm39) D796E probably benign Het
C1s2 A G 6: 124,607,017 (GRCm39) V277A possibly damaging Het
Ccdc121rt3 A G 5: 112,503,383 (GRCm39) I107T probably benign Het
Cldn15 A G 5: 136,997,015 (GRCm39) M19V probably benign Het
Cldn23 T G 8: 36,293,417 (GRCm39) S24R possibly damaging Het
Cnr1 T A 4: 33,944,416 (GRCm39) I268N probably damaging Het
Csf2ra A T 19: 61,215,024 (GRCm39) W147R probably damaging Het
Ctsb G T 14: 63,370,765 (GRCm39) probably benign Het
D430041D05Rik A G 2: 104,088,874 (GRCm39) M34T probably benign Het
Dmtf1 T C 5: 9,176,564 (GRCm39) I463V probably damaging Het
Dnah7a T A 1: 53,670,842 (GRCm39) D470V probably benign Het
Dtx4 A G 19: 12,459,500 (GRCm39) S435P probably benign Het
Ear2 T A 14: 44,340,495 (GRCm39) M51K probably damaging Het
Efcab3 T A 11: 104,615,366 (GRCm39) L711* probably null Het
Elmo1 T A 13: 20,464,973 (GRCm39) probably null Het
Faf1 T A 4: 109,593,794 (GRCm39) I124N probably damaging Het
Gkap1 A C 13: 58,384,799 (GRCm39) probably null Het
Glipr2 T C 4: 43,957,770 (GRCm39) S4P probably benign Het
Gm38119 A T 3: 92,645,337 (GRCm39) C86S unknown Het
Gpr171 T G 3: 59,005,320 (GRCm39) I152L probably benign Het
Hes7 T A 11: 69,012,352 (GRCm39) T9S unknown Het
Homer3 T C 8: 70,743,662 (GRCm39) V180A probably benign Het
Irx1 T A 13: 72,108,176 (GRCm39) M169L probably benign Het
Kap A G 6: 133,828,690 (GRCm39) probably null Het
Mgat5b A G 11: 116,857,627 (GRCm39) M2V Het
Mob4 C T 1: 55,187,479 (GRCm39) Q76* probably null Het
Or10w3 T A 19: 13,704,207 (GRCm39) I194N possibly damaging Het
Or8b47 A T 9: 38,435,013 (GRCm39) probably null Het
Or8g26 A G 9: 39,096,056 (GRCm39) D191G probably benign Het
Pate14 C T 9: 36,549,159 (GRCm39) G34R possibly damaging Het
Pgk2 T A 17: 40,518,409 (GRCm39) I340F probably benign Het
Prex1 G A 2: 166,419,810 (GRCm39) Q1289* probably null Het
Prr22 A G 17: 57,078,819 (GRCm39) D324G possibly damaging Het
Rab2b A T 14: 52,501,217 (GRCm39) S201T probably benign Het
Rdh1 T A 10: 127,596,121 (GRCm39) probably null Het
Rhbdl1 G T 17: 26,055,123 (GRCm39) N82K probably benign Het
Rspo1 C A 4: 124,885,210 (GRCm39) Q29K possibly damaging Het
Rtp3 A T 9: 110,814,948 (GRCm39) Y472* probably null Het
Senp5 T A 16: 31,809,252 (GRCm39) M1L unknown Het
Slfn4 A T 11: 83,078,389 (GRCm39) probably null Het
Stab1 A G 14: 30,863,413 (GRCm39) V2091A possibly damaging Het
Stk32c A G 7: 138,768,069 (GRCm39) S71P possibly damaging Het
Tpr A G 1: 150,320,180 (GRCm39) T2243A probably benign Het
Tubgcp6 A T 15: 88,985,604 (GRCm39) N1544K probably damaging Het
Uqcc1 T C 2: 155,700,066 (GRCm39) N202S probably benign Het
Vmn2r18 C T 5: 151,510,158 (GRCm39) E72K possibly damaging Het
Zfp654 C A 16: 64,606,570 (GRCm39) C3F probably damaging Het
Zfp804b T C 5: 6,821,263 (GRCm39) E600G 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
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
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'- CTTCACAGTATTGGCGGTGG -3'
(R):5'- GGAGCTCATAAGACAGCCAC -3'

Sequencing Primer
(F):5'- AACGCGCTGGTGTCCTACTC -3'
(R):5'- TAAGACAGCCACGCGTTG -3'
Posted On 2019-11-12