Incidental Mutation 'R6115:Pcdha7'
ID 485100
Institutional Source Beutler Lab
Gene Symbol Pcdha7
Ensembl Gene ENSMUSG00000104318
Gene Name protocadherin alpha 7
Synonyms Crnr4, Cnr4
MMRRC Submission 044264-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.099) question?
Stock # R6115 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 37106864-37320716 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 37107788 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 271 (E271G)
Ref Sequence ENSEMBL: ENSMUSP00000142156 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070797] [ENSMUST00000115661] [ENSMUST00000115662] [ENSMUST00000192168] [ENSMUST00000192295] [ENSMUST00000192503] [ENSMUST00000192631] [ENSMUST00000195590] [ENSMUST00000193389] [ENSMUST00000194751] [ENSMUST00000194544] [ENSMUST00000192512] [ENSMUST00000193777] [ENSMUST00000193839]
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 damaging
Transcript: ENSMUST00000192631
AA Change: E271G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000142156
Gene: ENSMUSG00000104318
AA Change: E271G

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: 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: ENSMUST00000194544
SMART Domains Protein: ENSMUSP00000141847
Gene: ENSMUSG00000102836

DomainStartEndE-ValueType
Blast:CA 18 66 5e-20 BLAST
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: 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
Meta Mutation Damage Score 0.5362 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.9%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik C G 5: 64,055,317 (GRCm39) Q18E probably damaging Het
Acsf3 T A 8: 123,517,411 (GRCm39) H402Q probably damaging Het
Adam34 T G 8: 44,105,098 (GRCm39) Q182H probably benign Het
Alx1 G A 10: 102,864,304 (GRCm39) P55L possibly damaging Het
Arhgef38 A T 3: 132,838,374 (GRCm39) probably null Het
Ccdc102a T C 8: 95,629,999 (GRCm39) N514S probably benign Het
Corin T A 5: 72,518,072 (GRCm39) T317S probably damaging Het
Ctnna2 A G 6: 77,613,822 (GRCm39) V256A probably benign Het
Dhx29 A T 13: 113,089,335 (GRCm39) probably null Het
Dnah2 C A 11: 69,337,475 (GRCm39) D3209Y probably damaging Het
Dnhd1 A G 7: 105,363,194 (GRCm39) T3919A probably benign Het
F7 T A 8: 13,083,958 (GRCm39) N214K probably benign Het
Fam3b T G 16: 97,276,568 (GRCm39) Q177H possibly damaging Het
Fign T C 2: 63,809,654 (GRCm39) I539V probably benign Het
Hc T G 2: 34,903,050 (GRCm39) D1067A probably damaging Het
Herc6 A G 6: 57,560,191 (GRCm39) D77G probably benign Het
Hmg20a A T 9: 56,397,116 (GRCm39) E305D possibly damaging Het
Il16 G A 7: 83,301,775 (GRCm39) Q116* probably null Het
Kif13a T A 13: 46,954,789 (GRCm39) I648F probably damaging Het
Lactb G T 9: 66,874,969 (GRCm39) N374K possibly damaging Het
Lmx1b T C 2: 33,459,118 (GRCm39) D145G probably damaging Het
Lrfn4 T C 19: 4,663,937 (GRCm39) D199G probably damaging Het
Lrrc49 A T 9: 60,522,444 (GRCm39) V307E possibly damaging Het
Magi1 A C 6: 93,685,051 (GRCm39) S776A possibly damaging Het
Mthfsl T A 9: 88,570,807 (GRCm39) *147L probably null Het
Nsmce4a G T 7: 130,148,722 (GRCm39) Q95K probably benign Het
Or1j15 A T 2: 36,458,963 (GRCm39) M118L probably damaging Het
Or4k37 A G 2: 111,159,558 (GRCm39) T265A probably benign Het
Or4k49 A T 2: 111,494,987 (GRCm39) K139* probably null Het
Or5b24 T C 19: 12,912,948 (GRCm39) V282A possibly damaging Het
Pcdhga8 T A 18: 37,860,596 (GRCm39) F551I possibly damaging Het
Prpf31 T C 7: 3,642,705 (GRCm39) probably null Het
Qrfpr C T 3: 36,236,742 (GRCm39) V220I possibly damaging Het
Rnf170 T C 8: 26,615,994 (GRCm39) F95S possibly damaging Het
Scn9a T A 2: 66,393,973 (GRCm39) Y200F possibly damaging Het
Sfpq A T 4: 126,915,141 (GRCm39) probably null Het
Slc9c1 A T 16: 45,376,132 (GRCm39) Y406F probably damaging Het
Stk32c G T 7: 138,700,628 (GRCm39) Y200* probably null Het
Svil A G 18: 5,108,675 (GRCm39) R1938G probably damaging Het
Sycp2 G C 2: 177,990,038 (GRCm39) R1403G probably benign Het
Tm9sf4 T C 2: 153,024,409 (GRCm39) probably null Het
Tmc3 A T 7: 83,264,170 (GRCm39) M633L possibly damaging Het
Tmem163 T C 1: 127,605,185 (GRCm39) D61G possibly damaging Het
Unc5b C A 10: 60,613,325 (GRCm39) A304S probably benign Het
Vmn2r106 G A 17: 20,488,638 (GRCm39) P587L probably benign Het
Vmn2r18 A T 5: 151,508,462 (GRCm39) S221T possibly damaging Het
Vmn2r85 T G 10: 130,258,672 (GRCm39) Y461S probably damaging Het
Yod1 T C 1: 130,646,800 (GRCm39) F226L possibly damaging Het
Zbtb4 T C 11: 69,667,148 (GRCm39) I151T probably damaging Het
Zfp110 A T 7: 12,583,701 (GRCm39) Q783L 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
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
R9711:Pcdha7 UTSW 18 37,107,409 (GRCm39) missense probably damaging 1.00
Z1176:Pcdha7 UTSW 18 37,108,893 (GRCm39) missense probably benign 0.14
Predicted Primers PCR Primer
(F):5'- CCTTTAGACAGAGAAGAAGCTGC -3'
(R):5'- TACAGTGTCCAGGCAGTTGTG -3'

Sequencing Primer
(F):5'- CAGAGATTCGCTTATTGCTCACGG -3'
(R):5'- TCCAGGCAGTTGTGGGAAC -3'
Posted On 2017-08-16