Incidental Mutation 'R4409:Pcdha9'
ID 327838
Institutional Source Beutler Lab
Gene Symbol Pcdha9
Ensembl Gene ENSMUSG00000103770
Gene Name protocadherin alpha 9
Synonyms
MMRRC Submission 041691-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.684) question?
Stock # R4409 (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 37132198 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 422 (H422Q)
Ref Sequence ENSEMBL: ENSMUSP00000111323 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070797] [ENSMUST00000115659] [ENSMUST00000115661] [ENSMUST00000115662] [ENSMUST00000192168] [ENSMUST00000192295] [ENSMUST00000192503] [ENSMUST00000193389] [ENSMUST00000192631] [ENSMUST00000195590] [ENSMUST00000194038] [ENSMUST00000193839] [ENSMUST00000192512] [ENSMUST00000193777] [ENSMUST00000194544] [ENSMUST00000194751]
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: H422Q

PolyPhen 2 Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000111323
Gene: ENSMUSG00000103770
AA Change: H422Q

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: 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: 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: 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: 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: 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: 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: 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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
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 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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AAdacl4fm3 A T 4: 144,447,872 (GRCm39) S35T possibly damaging Het
Abcb5 A C 12: 118,836,657 (GRCm39) L1085V probably damaging Het
Adgrf5 T C 17: 43,752,738 (GRCm39) V560A probably damaging Het
Ambp C A 4: 63,070,884 (GRCm39) S65I probably damaging Het
Ash1l A G 3: 88,914,506 (GRCm39) D1712G probably damaging Het
Capn7 T C 14: 31,077,296 (GRCm39) L338P probably damaging Het
Car2 T A 3: 14,960,162 (GRCm39) S105T probably damaging Het
Casr A G 16: 36,320,703 (GRCm39) C482R probably benign Het
Ccdc18 C T 5: 108,368,708 (GRCm39) Q1277* probably null Het
Clca3a1 A G 3: 144,711,788 (GRCm39) F736L probably damaging Het
Col6a1 T C 10: 76,557,334 (GRCm39) H206R probably benign Het
Crybg1 C T 10: 43,874,754 (GRCm39) A785T possibly damaging Het
Cyp2c68 T A 19: 39,727,896 (GRCm39) E85D probably damaging Het
Dnah9 T C 11: 65,976,303 (GRCm39) S1249G possibly damaging Het
E2f1 C G 2: 154,405,942 (GRCm39) G144R probably damaging Het
Fbxw24 A T 9: 109,437,256 (GRCm39) D210E probably damaging Het
Fcgr1 T C 3: 96,191,893 (GRCm39) Y305C probably benign Het
Gm10226 G T 17: 21,910,876 (GRCm39) C37F possibly damaging Het
Greb1l A G 18: 10,503,182 (GRCm39) Y411C possibly damaging Het
Grin1 T C 2: 25,200,451 (GRCm39) N224D possibly damaging Het
H2-T5 T A 17: 36,476,742 (GRCm39) H244L possibly damaging Het
Ighmbp2 C T 19: 3,321,536 (GRCm39) V408I probably benign Het
Il1rap G A 16: 26,531,015 (GRCm39) probably null Het
Iqcg A G 16: 32,865,888 (GRCm39) probably null Het
Klhdc3 C T 17: 46,987,944 (GRCm39) G249E probably damaging Het
Lct T C 1: 128,231,963 (GRCm39) M629V probably damaging Het
Macrod2 T G 2: 140,260,777 (GRCm39) H68Q possibly damaging Het
Morn4 T C 19: 42,066,986 (GRCm39) T2A possibly damaging Het
Msc G C 1: 14,825,902 (GRCm39) P24R probably damaging Het
Msh5 T C 17: 35,258,226 (GRCm39) D300G probably damaging Het
Myo10 A G 15: 25,807,955 (GRCm39) Y1859C probably damaging Het
Nacc1 A G 8: 85,399,673 (GRCm39) *515Q probably null Het
Or1ad6 T A 11: 50,860,223 (GRCm39) I126N probably damaging Het
Or4n5 T A 14: 50,133,230 (GRCm39) T10S probably benign Het
Or5g29 T C 2: 85,421,274 (GRCm39) L130S probably damaging Het
Oxgr1 C T 14: 120,259,572 (GRCm39) V212M possibly damaging Het
P3h2 G C 16: 25,924,040 (GRCm39) R132G possibly damaging Het
Pcdhga12 A G 18: 37,901,138 (GRCm39) T657A probably damaging Het
Pcx A G 19: 4,660,031 (GRCm39) K442R possibly damaging Het
Pkd2 T C 5: 104,614,750 (GRCm39) silent Het
Plg T G 17: 12,609,150 (GRCm39) C152G probably damaging Het
Plk4 A G 3: 40,760,984 (GRCm39) E438G probably damaging Het
Ryr3 A G 2: 112,560,653 (GRCm39) L3016P probably damaging Het
Sdccag8 T G 1: 176,695,932 (GRCm39) probably null Het
Slc24a1 A T 9: 64,855,506 (GRCm39) M467K probably benign Het
Sorl1 T G 9: 41,946,744 (GRCm39) I856L probably damaging Het
Spag7 T C 11: 70,555,688 (GRCm39) D83G probably damaging Het
Tmem59l A G 8: 70,939,951 (GRCm39) L6S unknown Het
Tmprss11b T C 5: 86,812,137 (GRCm39) N170S probably benign Het
Tnfrsf1b G A 4: 144,950,855 (GRCm39) Q253* probably null Het
Trim12a G A 7: 103,956,201 (GRCm39) A113V probably benign Het
Ttn A G 2: 76,727,987 (GRCm39) probably benign Het
Vmn1r213 A C 13: 23,195,593 (GRCm39) probably benign Het
Vmn1r54 C A 6: 90,246,864 (GRCm39) Y259* probably null Het
Vmn1r55 A G 7: 5,150,075 (GRCm39) V116A probably benign Het
Vmn2r120 T C 17: 57,816,477 (GRCm39) N626S probably damaging Het
Vmn2r58 A G 7: 41,522,051 (GRCm39) F15S possibly damaging Het
Vmn2r73 A T 7: 85,520,768 (GRCm39) V400E probably damaging Het
Zbtb39 A G 10: 127,578,696 (GRCm39) I423M possibly damaging Het
Zfp352 A G 4: 90,113,401 (GRCm39) N514D probably benign Het
Zfp451 A T 1: 33,816,494 (GRCm39) H485Q probably 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
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
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'- TGGATGCTACAGATAAAGGATACCC -3'
(R):5'- CAGGAGCATTGTCGTTCACG -3'

Sequencing Primer
(F):5'- AGGATACCCACCTATGGTTGC -3'
(R):5'- GAGCATTGTCGTTCACGTCAGC -3'
Posted On 2015-07-07