Incidental Mutation 'R9711:Pcdha7'
ID 730205
Institutional Source Beutler Lab
Gene Symbol Pcdha7
Ensembl Gene ENSMUSG00000104318
Gene Name protocadherin alpha 7
Synonyms Crnr4, Cnr4
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.099) question?
Stock # R9711 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 37106864-37320716 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 37107409 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 145 (S145P)
Ref Sequence ENSEMBL: ENSMUSP00000142156 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070797] [ENSMUST00000115661] [ENSMUST00000115662] [ENSMUST00000192168] [ENSMUST00000192295] [ENSMUST00000192503] [ENSMUST00000192512] [ENSMUST00000192631] [ENSMUST00000193389] [ENSMUST00000193777] [ENSMUST00000193839] [ENSMUST00000194544] [ENSMUST00000194751] [ENSMUST00000195590]
AlphaFold Q91Y13
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: 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 damaging
Transcript: ENSMUST00000192631
AA Change: S145P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000142156
Gene: ENSMUSG00000104318
AA Change: S145P

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: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 T C 8: 87,275,388 (GRCm39) D430G probably damaging Het
Adgrf1 T C 17: 43,621,580 (GRCm39) S606P possibly damaging Het
Afap1 A G 5: 36,141,540 (GRCm39) N475D probably damaging Het
Ahnak2 A G 12: 112,739,468 (GRCm39) S1535P possibly damaging Het
Akt1 G T 12: 112,624,885 (GRCm39) H194N possibly damaging Het
Api5 T A 2: 94,251,812 (GRCm39) Q396L possibly damaging Het
Aplp2 T C 9: 31,083,303 (GRCm39) N148S probably benign Het
Asb3 A G 11: 31,031,400 (GRCm39) Y340C probably damaging Het
Bbox1 A T 2: 110,098,581 (GRCm39) M332K probably damaging Het
Cabin1 A T 10: 75,579,090 (GRCm39) S449T probably benign Het
Carns1 A G 19: 4,216,007 (GRCm39) V725A possibly damaging Het
Cdkn1b A G 6: 134,898,058 (GRCm39) K59R possibly damaging Het
Cdv3 A T 9: 103,233,539 (GRCm39) I212K probably damaging Het
Clec14a T A 12: 58,314,432 (GRCm39) I397F probably damaging Het
Cnnm1 A G 19: 43,483,469 (GRCm39) I950V possibly damaging Het
Ddi2 A G 4: 141,422,734 (GRCm39) M326T probably benign Het
Dhx30 T C 9: 109,914,103 (GRCm39) T1065A probably benign Het
Eif3c A T 7: 126,146,674 (GRCm39) M808K possibly damaging Het
Evi2 G T 11: 79,406,971 (GRCm39) H201Q possibly damaging Het
Exoc4 A G 6: 33,452,991 (GRCm39) T494A unknown Het
Fam83f T A 15: 80,574,819 (GRCm39) M242K probably damaging Het
Fat4 T C 3: 39,055,374 (GRCm39) Y4198H probably benign Het
Fcgbp C A 7: 27,793,000 (GRCm39) N1001K probably benign Het
Gda G T 19: 21,400,449 (GRCm39) A164E probably damaging Het
Gm19410 T C 8: 36,279,493 (GRCm39) V1786A possibly damaging Het
Gm45871 A G 18: 90,609,069 (GRCm39) N82S probably benign Het
Gnas T A 2: 174,141,392 (GRCm39) S580T unknown Het
Gprin1 G A 13: 54,886,714 (GRCm39) P520L probably benign Het
Gramd4 C T 15: 86,014,751 (GRCm39) R433C probably damaging Het
Ighv5-12 T A 12: 113,665,958 (GRCm39) T47S probably benign Het
Itprid1 T G 6: 55,864,018 (GRCm39) S115A probably damaging Het
Kdm5a T A 6: 120,367,658 (GRCm39) L451Q probably damaging Het
Kif12 T A 4: 63,084,126 (GRCm39) R624S probably benign Het
Lepr T A 4: 101,592,851 (GRCm39) Y155* probably null Het
Lnx2 T A 5: 146,961,376 (GRCm39) I519F probably damaging Het
Marchf7 T A 2: 60,060,175 (GRCm39) S101T probably damaging Het
Miox A G 15: 89,220,785 (GRCm39) D230G probably damaging Het
Morc2a T A 11: 3,600,381 (GRCm39) M1K probably null Het
Mtus1 T C 8: 41,536,222 (GRCm39) N498S probably damaging Het
Mxd1 T A 6: 86,645,554 (GRCm39) R46W probably damaging Het
Ndufa11 G C 17: 57,024,843 (GRCm39) A2P possibly damaging Het
Necab2 C T 8: 120,198,513 (GRCm39) H362Y probably damaging Het
Nphp4 G A 4: 152,623,434 (GRCm39) V703I possibly damaging Het
Nup54 T C 5: 92,582,218 (GRCm39) N31S unknown Het
Or13a23-ps1 T A 7: 140,118,497 (GRCm39) S22R probably benign Het
Or1ad6 T C 11: 50,860,316 (GRCm39) L157P probably damaging Het
Or1e34 A T 11: 73,778,696 (GRCm39) C167* probably null Het
Or8b4 A C 9: 37,830,066 (GRCm39) T38P probably damaging Het
P2rx2 T C 5: 110,490,388 (GRCm39) E109G possibly damaging Het
Pdlim5 A T 3: 141,948,529 (GRCm39) V586E probably damaging Het
Pex5l T C 3: 33,136,204 (GRCm39) E5G probably benign Het
Plch1 T A 3: 63,615,176 (GRCm39) D774V probably damaging Het
Plekhg3 A T 12: 76,611,726 (GRCm39) D335V possibly damaging Het
Pop1 A G 15: 34,530,227 (GRCm39) H905R probably benign Het
Ppm1k T C 6: 57,492,720 (GRCm39) T189A probably damaging Het
Pramel13 A G 4: 144,122,517 (GRCm39) L9P probably damaging Het
Recql5 A G 11: 115,784,367 (GRCm39) V911A probably damaging Het
Rnf145 T A 11: 44,415,830 (GRCm39) L15* probably null Het
Rpl13a A G 7: 44,776,673 (GRCm39) V29A probably benign Het
Rps6ka5 A G 12: 100,540,250 (GRCm39) V491A probably benign Het
Setbp1 T C 18: 78,900,142 (GRCm39) H1175R probably benign Het
Setd5 T C 6: 113,093,063 (GRCm39) S372P probably damaging Het
Slc1a3 T C 15: 8,675,177 (GRCm39) E276G probably damaging Het
Slc36a2 T C 11: 55,070,169 (GRCm39) N136S probably benign Het
Spag1 G A 15: 36,190,683 (GRCm39) probably null Het
Spon1 A C 7: 113,387,685 (GRCm39) T81P probably damaging Het
Sv2b A T 7: 74,856,238 (GRCm39) D17E probably benign Het
Tasor2 A G 13: 3,649,667 (GRCm39) V44A probably benign Het
Tax1bp1 C T 6: 52,704,215 (GRCm39) T65I probably damaging Het
Tenm2 C A 11: 35,915,341 (GRCm39) K2065N probably damaging Het
Ticam2 T C 18: 46,693,658 (GRCm39) D143G probably damaging Het
Tmem132d T C 5: 127,869,579 (GRCm39) E585G possibly damaging Het
Tnfrsf8 C T 4: 145,019,668 (GRCm39) probably null Het
Trim44 C T 2: 102,230,813 (GRCm39) G73R unknown Het
Trpc3 C T 3: 36,692,713 (GRCm39) D760N possibly damaging Het
Tspan9 T A 6: 127,942,715 (GRCm39) M171L probably benign Het
Ugt2b37 A G 5: 87,402,532 (GRCm39) F33S possibly damaging Het
Vav2 A T 2: 27,159,027 (GRCm39) V734E probably damaging Het
Vmn1r214 A G 13: 23,218,508 (GRCm39) M1V probably null Het
Vmn1r24 A T 6: 57,932,804 (GRCm39) V238E probably damaging Het
Vmn2r107 A G 17: 20,577,262 (GRCm39) Q420R probably damaging Het
Vmn2r31 G A 7: 7,387,085 (GRCm39) P829S probably damaging Het
Xpo6 A G 7: 125,712,873 (GRCm39) F703L probably benign Het
Zfp442 T A 2: 150,250,207 (GRCm39) H565L possibly damaging Het
Zfp950 A T 19: 61,116,000 (GRCm39) D2E probably damaging Het
Zfp992 T A 4: 146,551,345 (GRCm39) S355R probably damaging Het
Zwilch A T 9: 64,063,303 (GRCm39) F309Y probably damaging Het
Other mutations in Pcdha7
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2511:Pcdha7 UTSW 18 37,107,786 (GRCm39) missense probably damaging 1.00
R3881:Pcdha7 UTSW 18 37,108,432 (GRCm39) missense probably benign 0.44
R4212:Pcdha7 UTSW 18 37,108,027 (GRCm39) missense probably benign 0.00
R4533:Pcdha7 UTSW 18 37,108,460 (GRCm39) missense possibly damaging 0.73
R4608:Pcdha7 UTSW 18 37,108,870 (GRCm39) missense possibly damaging 0.85
R4766:Pcdha7 UTSW 18 37,107,560 (GRCm39) missense probably damaging 0.99
R4808:Pcdha7 UTSW 18 37,107,281 (GRCm39) missense probably damaging 1.00
R4897:Pcdha7 UTSW 18 37,108,646 (GRCm39) missense probably damaging 1.00
R5030:Pcdha7 UTSW 18 37,108,501 (GRCm39) missense probably damaging 1.00
R5173:Pcdha7 UTSW 18 37,107,705 (GRCm39) missense probably benign 0.03
R5333:Pcdha7 UTSW 18 37,107,619 (GRCm39) missense probably benign 0.14
R5342:Pcdha7 UTSW 18 37,107,724 (GRCm39) missense possibly damaging 0.74
R5463:Pcdha7 UTSW 18 37,108,628 (GRCm39) missense probably damaging 1.00
R5536:Pcdha7 UTSW 18 37,108,303 (GRCm39) missense probably damaging 1.00
R5848:Pcdha7 UTSW 18 37,108,136 (GRCm39) missense probably damaging 1.00
R5858:Pcdha7 UTSW 18 37,109,279 (GRCm39) missense probably damaging 0.99
R5887:Pcdha7 UTSW 18 37,108,960 (GRCm39) missense probably damaging 0.96
R6115:Pcdha7 UTSW 18 37,107,788 (GRCm39) missense probably damaging 0.99
R6496:Pcdha7 UTSW 18 37,107,638 (GRCm39) missense possibly damaging 0.86
R6522:Pcdha7 UTSW 18 37,106,995 (GRCm39) missense possibly damaging 0.74
R6653:Pcdha7 UTSW 18 37,107,539 (GRCm39) missense probably benign 0.01
R6815:Pcdha7 UTSW 18 37,108,174 (GRCm39) missense probably damaging 0.99
R7313:Pcdha7 UTSW 18 37,107,471 (GRCm39) missense probably damaging 1.00
R7519:Pcdha7 UTSW 18 37,109,285 (GRCm39) missense possibly damaging 0.93
R7520:Pcdha7 UTSW 18 37,108,366 (GRCm39) missense probably damaging 0.99
R7857:Pcdha7 UTSW 18 37,108,892 (GRCm39) missense probably damaging 0.99
R7939:Pcdha7 UTSW 18 37,109,063 (GRCm39) missense possibly damaging 0.68
R8229:Pcdha7 UTSW 18 37,107,776 (GRCm39) nonsense probably null
R9592:Pcdha7 UTSW 18 37,109,045 (GRCm39) missense probably benign 0.00
Z1176:Pcdha7 UTSW 18 37,108,893 (GRCm39) missense probably benign 0.14
Predicted Primers PCR Primer
(F):5'- CTGGAGGTAAATCTTCAGAATGGC -3'
(R):5'- GCAATAAGCGAATCTCTGCAGC -3'

Sequencing Primer
(F):5'- GTTTGTGAATTCTCGCATCGACCG -3'
(R):5'- AATAAGCGAATCTCTGCAGCTTCTTC -3'
Posted On 2022-10-06