Incidental Mutation 'R7120:Pcdha8'
ID 551972
Institutional Source Beutler Lab
Gene Symbol Pcdha8
Ensembl Gene ENSMUSG00000103800
Gene Name protocadherin alpha 8
Synonyms
MMRRC Submission 045209-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.200) question?
Stock # R7120 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 37125520-37320710 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 37126840 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 441 (V441M)
Ref Sequence ENSEMBL: ENSMUSP00000142159 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070797] [ENSMUST00000115659] [ENSMUST00000115661] [ENSMUST00000115662] [ENSMUST00000192168] [ENSMUST00000192295] [ENSMUST00000192503] [ENSMUST00000194038] [ENSMUST00000192512] [ENSMUST00000192631] [ENSMUST00000193389] [ENSMUST00000193777] [ENSMUST00000193839] [ENSMUST00000194544] [ENSMUST00000194751] [ENSMUST00000195590]
AlphaFold Q91Y12
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
SMART Domains Protein: ENSMUSP00000111323
Gene: ENSMUSG00000103770

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 possibly damaging
Transcript: ENSMUST00000194038
AA Change: V441M

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000142159
Gene: ENSMUSG00000103800
AA Change: V441M

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: 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: 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: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810062G17Rik A T 3: 36,536,016 (GRCm39) Q94L unknown Het
4933411K16Rik C T 19: 42,041,112 (GRCm39) A81V probably benign Het
Actr3 A C 1: 125,331,169 (GRCm39) Y273* probably null Het
Aoc1 T A 6: 48,883,531 (GRCm39) I469N probably damaging Het
Arhgef28 A T 13: 98,081,047 (GRCm39) L1270Q probably damaging Het
Atp2c1 G A 9: 105,297,385 (GRCm39) Q780* probably null Het
Bbs10 T C 10: 111,135,310 (GRCm39) V141A possibly damaging Het
Bivm A T 1: 44,165,606 (GRCm39) T19S probably benign Het
Cacna1h T G 17: 25,610,481 (GRCm39) H675P probably benign Het
Cadps T A 14: 12,439,919 (GRCm38) L1204F probably damaging Het
Cald1 T C 6: 34,663,011 (GRCm39) probably null Het
Calr A G 8: 85,569,457 (GRCm39) M357T probably damaging Het
Ccni A T 5: 93,331,190 (GRCm39) Y260* probably null Het
Csrnp3 C A 2: 65,853,354 (GRCm39) T594K probably damaging Het
Dek A T 13: 47,253,659 (GRCm39) M152K unknown Het
Depdc1b T C 13: 108,498,781 (GRCm39) W155R probably benign Het
Ehd1 A G 19: 6,347,591 (GRCm39) K315R probably benign Het
Epn3 C A 11: 94,383,254 (GRCm39) R323S probably benign Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Fbxo10 T A 4: 45,040,533 (GRCm39) K891* probably null Het
Fras1 G T 5: 96,900,819 (GRCm39) G3013* probably null Het
Gbp2b A G 3: 142,312,507 (GRCm39) T297A probably benign Het
Gbp7 T C 3: 142,249,734 (GRCm39) S402P probably damaging Het
Gclc T C 9: 77,694,032 (GRCm39) Y329H probably damaging Het
Gfpt1 A G 6: 87,064,375 (GRCm39) H655R probably benign Het
Gm4787 C A 12: 81,425,260 (GRCm39) M299I probably benign Het
Grb7 C A 11: 98,345,817 (GRCm39) R532S probably benign Het
Hmcn1 A T 1: 150,576,292 (GRCm39) I2066N probably damaging Het
Hnrnpll T C 17: 80,341,486 (GRCm39) T518A probably benign Het
Hps3 G A 3: 20,065,705 (GRCm39) R712W probably damaging Het
Hspd1 A G 1: 55,118,388 (GRCm39) V406A probably benign Het
Igkv2-112 T C 6: 68,197,510 (GRCm39) F61L probably benign Het
Iqcf5 G A 9: 106,392,995 (GRCm39) R84H probably damaging Het
Itgad T A 7: 127,773,146 (GRCm39) M1K probably null Het
Kmt2d A G 15: 98,758,946 (GRCm39) S1292P unknown Het
Macc1 C A 12: 119,409,480 (GRCm39) Q83K possibly damaging Het
Map3k4 G T 17: 12,490,354 (GRCm39) A359E probably damaging Het
Mfap3 T A 11: 57,419,043 (GRCm39) C68S probably damaging Het
Mipep C T 14: 61,112,696 (GRCm39) R660C possibly damaging Het
Morc2b A T 17: 33,354,787 (GRCm39) L995Q probably damaging Het
Mrc1 A G 2: 14,313,508 (GRCm39) N913S probably damaging Het
N4bp1 C A 8: 87,587,495 (GRCm39) C481F probably benign Het
Nae1 A G 8: 105,252,910 (GRCm39) probably null Het
Nup214 T A 2: 31,941,054 (GRCm39) V29E probably benign Het
Or1e30 A T 11: 73,677,940 (GRCm39) M59L probably damaging Het
Or8c11 T C 9: 38,289,945 (GRCm39) L250P probably damaging Het
Orai1 A G 5: 123,167,535 (GRCm39) E236G possibly damaging Het
P2rx7 A G 5: 122,819,357 (GRCm39) Y593C probably benign Het
Pcbp2 A G 15: 102,383,113 (GRCm39) D77G possibly damaging Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 (GRCm39) probably benign Het
Plaa A G 4: 94,470,919 (GRCm39) S406P possibly damaging Het
Plekhh1 C A 12: 79,117,713 (GRCm39) P903Q probably benign Het
Plekhh3 T C 11: 101,059,064 (GRCm39) E92G probably damaging Het
Ptpn9 T C 9: 56,967,166 (GRCm39) F463S probably damaging Het
Ptprn2 A C 12: 116,835,676 (GRCm39) E337A probably benign Het
Rubcn C T 16: 32,656,839 (GRCm39) R527Q probably damaging Het
Samd3 C T 10: 26,106,864 (GRCm39) T73M possibly damaging Het
Sfxn4 T A 19: 60,840,477 (GRCm39) K173* probably null Het
Son CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC 16: 91,453,579 (GRCm39) probably benign Het
Son T G 16: 91,467,414 (GRCm39) N2258K unknown Het
Sspo A T 6: 48,442,505 (GRCm39) H2000L probably benign Het
Syne1 C T 10: 5,243,971 (GRCm39) S2731N probably benign Het
Syt6 T C 3: 103,494,673 (GRCm39) Y213H probably damaging Het
Tkt A G 14: 30,281,779 (GRCm39) N99S probably benign Het
Tlcd3b T C 7: 126,428,505 (GRCm39) L221P probably damaging Het
Tmem258 G A 19: 10,181,602 (GRCm39) probably benign Het
Tnks1bp1 T C 2: 84,902,441 (GRCm39) S1702P probably damaging Het
Tpte A G 8: 22,817,689 (GRCm39) D225G probably damaging Het
Trak1 T A 9: 121,289,564 (GRCm39) F625L probably benign Het
Ttc33 G T 15: 5,241,488 (GRCm39) C77F probably benign Het
Ugt1a2 A G 1: 88,128,522 (GRCm39) H55R probably damaging Het
Vmn1r169 G T 7: 23,277,444 (GRCm39) V279L probably benign Het
Vmn2r25 T C 6: 123,805,394 (GRCm39) K488E possibly damaging Het
Vmn2r8 A T 5: 108,956,504 (GRCm39) D39E possibly damaging Het
Other mutations in Pcdha8
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0751:Pcdha8 UTSW 18 37,127,123 (GRCm39) missense probably damaging 0.98
R3416:Pcdha8 UTSW 18 37,125,683 (GRCm39) missense probably benign 0.11
R3755:Pcdha8 UTSW 18 37,126,741 (GRCm39) missense probably damaging 1.00
R3756:Pcdha8 UTSW 18 37,126,741 (GRCm39) missense probably damaging 1.00
R3882:Pcdha8 UTSW 18 37,126,624 (GRCm39) missense probably benign 0.08
R3882:Pcdha8 UTSW 18 37,126,099 (GRCm39) missense probably damaging 1.00
R4036:Pcdha8 UTSW 18 37,125,914 (GRCm39) missense probably benign
R4038:Pcdha8 UTSW 18 37,125,914 (GRCm39) missense probably benign
R4204:Pcdha8 UTSW 18 37,127,737 (GRCm39) missense probably damaging 1.00
R4246:Pcdha8 UTSW 18 37,125,950 (GRCm39) missense probably damaging 1.00
R4596:Pcdha8 UTSW 18 37,126,611 (GRCm39) missense possibly damaging 0.89
R4773:Pcdha8 UTSW 18 37,127,626 (GRCm39) missense probably damaging 1.00
R5124:Pcdha8 UTSW 18 37,126,768 (GRCm39) missense probably benign 0.09
R5396:Pcdha8 UTSW 18 37,126,787 (GRCm39) missense probably damaging 0.98
R5435:Pcdha8 UTSW 18 37,126,652 (GRCm39) missense probably damaging 1.00
R5562:Pcdha8 UTSW 18 37,126,024 (GRCm39) missense possibly damaging 0.93
R5896:Pcdha8 UTSW 18 37,126,572 (GRCm39) missense probably benign 0.01
R6277:Pcdha8 UTSW 18 37,127,411 (GRCm39) missense probably damaging 0.98
R6415:Pcdha8 UTSW 18 37,127,614 (GRCm39) missense probably damaging 1.00
R6620:Pcdha8 UTSW 18 37,125,581 (GRCm39) missense probably benign 0.18
R6641:Pcdha8 UTSW 18 37,126,850 (GRCm39) missense probably damaging 1.00
R6766:Pcdha8 UTSW 18 37,127,753 (GRCm39) missense probably benign 0.00
R6807:Pcdha8 UTSW 18 37,127,401 (GRCm39) missense probably damaging 0.99
R7223:Pcdha8 UTSW 18 37,126,201 (GRCm39) missense probably benign 0.04
R7358:Pcdha8 UTSW 18 37,125,830 (GRCm39) missense probably damaging 1.00
R7701:Pcdha8 UTSW 18 37,126,864 (GRCm39) missense probably damaging 1.00
R7712:Pcdha8 UTSW 18 37,125,737 (GRCm39) missense possibly damaging 0.63
R7883:Pcdha8 UTSW 18 37,126,196 (GRCm39) missense probably damaging 0.97
R8150:Pcdha8 UTSW 18 37,126,264 (GRCm39) missense probably damaging 1.00
R8685:Pcdha8 UTSW 18 37,127,003 (GRCm39) missense probably damaging 1.00
R8705:Pcdha8 UTSW 18 37,126,906 (GRCm39) missense probably damaging 1.00
R8743:Pcdha8 UTSW 18 37,127,372 (GRCm39) missense probably benign 0.00
R8956:Pcdha8 UTSW 18 37,126,241 (GRCm39) missense probably benign 0.00
R9068:Pcdha8 UTSW 18 37,127,323 (GRCm39) missense probably damaging 1.00
R9076:Pcdha8 UTSW 18 37,126,285 (GRCm39) missense possibly damaging 0.56
R9241:Pcdha8 UTSW 18 37,127,008 (GRCm39) missense probably damaging 1.00
R9406:Pcdha8 UTSW 18 37,126,922 (GRCm39) missense probably damaging 1.00
R9467:Pcdha8 UTSW 18 37,126,843 (GRCm39) missense possibly damaging 0.62
R9512:Pcdha8 UTSW 18 37,126,624 (GRCm39) missense possibly damaging 0.85
R9550:Pcdha8 UTSW 18 37,127,399 (GRCm39) missense possibly damaging 0.94
R9607:Pcdha8 UTSW 18 37,126,217 (GRCm39) missense probably damaging 1.00
R9708:Pcdha8 UTSW 18 37,125,548 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- ACTCAGGTATCAACGGGCAG -3'
(R):5'- GTGCACAGACACATAGCTCGAC -3'

Sequencing Primer
(F):5'- AGGTGACCTGCTCCTTGAC -3'
(R):5'- CACCGCTGATACTGTGAA -3'
Posted On 2019-05-15