Incidental Mutation 'R9150:Pcdhga5'
ID 694999
Institutional Source Beutler Lab
Gene Symbol Pcdhga5
Ensembl Gene ENSMUSG00000103567
Gene Name protocadherin gamma subfamily A, 5
Synonyms
MMRRC Submission 068938-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.231) question?
Stock # R9150 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 37827433-37974926 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 37827933 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Threonine at position 127 (N127T)
Ref Sequence ENSEMBL: ENSMUSP00000141893 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073447] [ENSMUST00000115661] [ENSMUST00000192931] [ENSMUST00000193414] [ENSMUST00000193869] [ENSMUST00000194190] [ENSMUST00000194418] [ENSMUST00000194544] [ENSMUST00000195112]
AlphaFold Q91XY3
Predicted Effect probably benign
Transcript: ENSMUST00000073447
SMART Domains Protein: ENSMUSP00000073150
Gene: ENSMUSG00000104346

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
CA 42 128 2.15e-2 SMART
CA 152 237 4.8e-13 SMART
CA 261 342 9.36e-25 SMART
CA 366 447 6.62e-25 SMART
CA 471 557 6.72e-26 SMART
CA 588 666 2.15e-15 SMART
Pfam:Cadherin_C_2 685 768 4.8e-24 PFAM
Pfam:Cadherin_tail 805 928 8.1e-38 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: ENSMUST00000192931
SMART Domains Protein: ENSMUSP00000141348
Gene: ENSMUSG00000103037

DomainStartEndE-ValueType
CA 36 119 8e-3 SMART
CA 143 228 1.34e-20 SMART
CA 252 333 1.52e-24 SMART
CA 357 438 9.22e-24 SMART
CA 462 548 1.24e-24 SMART
CA 579 660 1.3e-9 SMART
transmembrane domain 679 701 N/A INTRINSIC
low complexity region 899 918 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000193414
AA Change: N127T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141893
Gene: ENSMUSG00000103567
AA Change: N127T

DomainStartEndE-ValueType
CA 45 131 2.45e-1 SMART
CA 155 240 1.05e-18 SMART
CA 264 345 6.52e-24 SMART
CA 369 450 5.99e-23 SMART
CA 474 560 6.99e-24 SMART
CA 591 669 5.31e-15 SMART
transmembrane domain 692 714 N/A INTRINSIC
low complexity region 913 932 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000193869
SMART Domains Protein: ENSMUSP00000141482
Gene: ENSMUSG00000103332

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
CA 45 131 1.64e-2 SMART
CA 155 240 6.42e-23 SMART
CA 264 345 1.76e-20 SMART
CA 369 450 2.27e-23 SMART
CA 474 560 1.5e-23 SMART
CA 591 669 1.17e-16 SMART
transmembrane domain 692 714 N/A INTRINSIC
low complexity region 912 931 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000193984
Predicted Effect probably benign
Transcript: ENSMUST00000194190
SMART Domains Protein: ENSMUSP00000142062
Gene: ENSMUSG00000103144

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
CA 31 131 3.16e-2 SMART
CA 155 240 5.39e-16 SMART
CA 264 345 6.72e-26 SMART
CA 369 450 1.32e-24 SMART
CA 474 560 4.17e-22 SMART
CA 591 669 4.48e-13 SMART
transmembrane domain 692 714 N/A INTRINSIC
low complexity region 912 931 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000194418
SMART Domains Protein: ENSMUSP00000142140
Gene: ENSMUSG00000103677

DomainStartEndE-ValueType
CA 44 130 1.64e-2 SMART
CA 154 239 3.93e-18 SMART
CA 263 344 5.22e-23 SMART
CA 368 449 5.02e-25 SMART
CA 473 559 2.07e-26 SMART
CA 590 668 6.84e-18 SMART
transmembrane domain 690 712 N/A INTRINSIC
low complexity region 911 930 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: ENSMUST00000195112
SMART Domains Protein: ENSMUSP00000141449
Gene: ENSMUSG00000102748

DomainStartEndE-ValueType
CA 24 130 8.18e-3 SMART
CA 154 239 1.39e-18 SMART
CA 263 344 7.91e-23 SMART
CA 368 449 2.27e-23 SMART
CA 473 559 1.24e-24 SMART
CA 590 671 1.3e-9 SMART
transmembrane domain 690 712 N/A INTRINSIC
low complexity region 909 928 N/A INTRINSIC
Meta Mutation Damage Score 0.8837 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 98% (56/57)
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 gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl6b CTCCGGTGAGTGCCTCATCC CTCC 5: 137,553,354 (GRCm39) probably null Het
Ampd1 A T 3: 102,988,359 (GRCm39) I101F possibly damaging Het
Arhgap11a A G 2: 113,673,614 (GRCm39) V92A possibly damaging Het
Arih1 C A 9: 59,344,069 (GRCm39) L189F possibly damaging Het
B4galt3 A G 1: 171,103,899 (GRCm39) R379G probably benign Het
Capn12 A G 7: 28,590,378 (GRCm39) N642D probably benign Het
Cdc42ep3 T C 17: 79,642,299 (GRCm39) H207R probably benign Het
Dcps A T 9: 35,035,938 (GRCm39) L316H probably damaging Het
Dmgdh A G 13: 93,825,103 (GRCm39) Y142C probably damaging Het
Elmo2 A G 2: 165,140,607 (GRCm39) V300A probably damaging Het
Eml6 A T 11: 29,755,791 (GRCm39) V821E probably benign Het
Fam181a A T 12: 103,282,139 (GRCm39) N15Y probably damaging Het
Gm26657 G T 4: 56,740,835 (GRCm39) E7* probably null Het
Gm8267 A T 14: 44,955,362 (GRCm39) S220T probably benign Het
Gpld1 A T 13: 25,146,305 (GRCm39) Y183F probably damaging Het
Gpr158 G A 2: 21,831,251 (GRCm39) G784R probably benign Het
Grm2 A G 9: 106,524,657 (GRCm39) L215P Het
Gtpbp1 A G 15: 79,592,165 (GRCm39) D252G probably damaging Het
Heatr5b A G 17: 79,103,448 (GRCm39) V1135A probably benign Het
Irag1 T C 7: 110,498,205 (GRCm39) T397A probably benign Het
Lrrc8e A C 8: 4,286,030 (GRCm39) K752Q probably benign Het
Ltbp2 G A 12: 84,837,864 (GRCm39) P1192L probably benign Het
Mapre2 A G 18: 23,991,208 (GRCm39) T201A probably benign Het
Mcm9 A T 10: 53,502,110 (GRCm39) N85K Het
Mdga1 T C 17: 30,057,420 (GRCm39) T92A probably damaging Het
Nemf A C 12: 69,387,820 (GRCm39) D421E probably benign Het
Oga A T 19: 45,771,421 (GRCm39) V50E probably benign Het
Or13g1 G C 7: 85,955,942 (GRCm39) F126L probably damaging Het
Or5k14 G T 16: 58,693,005 (GRCm39) C169* probably null Het
Or5m3 A T 2: 85,838,626 (GRCm39) K169* probably null Het
Or8k53 A T 2: 86,177,336 (GRCm39) M258K probably damaging Het
Phyhipl A T 10: 70,404,887 (GRCm39) V107E probably damaging Het
Pkd1l1 G A 11: 8,786,256 (GRCm39) R2383C Het
Ppp1r16a G A 15: 76,575,054 (GRCm39) probably benign Het
Pramel20 A G 4: 143,298,531 (GRCm39) Y158C probably benign Het
Rnf41 T C 10: 128,272,399 (GRCm39) V142A Het
Sgcd C T 11: 46,870,170 (GRCm39) V264I probably damaging Het
Six2 A G 17: 85,992,763 (GRCm39) S247P probably benign Het
Slc17a7 T G 7: 44,820,167 (GRCm39) Y241D probably damaging Het
Slc30a5 T A 13: 100,939,915 (GRCm39) K724* probably null Het
Slitrk1 T A 14: 109,149,101 (GRCm39) I537F possibly damaging Het
Sp140l2 T A 1: 85,091,359 (GRCm39) Q33L probably damaging Het
Spen C T 4: 141,244,468 (GRCm39) R189Q unknown Het
Srd5a3 T A 5: 76,297,615 (GRCm39) L139Q probably damaging Het
Tgfbrap1 A T 1: 43,114,985 (GRCm39) Y38* probably null Het
Tln2 A T 9: 67,128,778 (GRCm39) M1437K probably damaging Het
Tmem87b T C 2: 128,687,401 (GRCm39) I467T probably damaging Het
Tnfrsf21 T A 17: 43,398,691 (GRCm39) I599N probably damaging Het
Trmt112 T A 19: 6,887,620 (GRCm39) L23Q probably damaging Het
Tsc22d1 T A 14: 76,654,056 (GRCm39) N178K probably damaging Het
Ttc23 A G 7: 67,375,850 (GRCm39) Y476C probably damaging Het
Twf1 A T 15: 94,484,274 (GRCm39) W83R probably damaging Het
Vmn2r14 T A 5: 109,367,783 (GRCm39) H403L probably damaging Het
Wiz A T 17: 32,586,809 (GRCm39) I167N probably benign Het
Zdhhc22 G A 12: 87,035,192 (GRCm39) P87S probably benign Het
Zfp618 C T 4: 63,039,603 (GRCm39) Q401* probably null Het
Zfp715 T A 7: 42,948,713 (GRCm39) I416F possibly damaging Het
Other mutations in Pcdhga5
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4581001:Pcdhga5 UTSW 18 37,829,910 (GRCm39) missense probably benign 0.01
R3775:Pcdhga5 UTSW 18 37,828,167 (GRCm39) missense possibly damaging 0.89
R4232:Pcdhga5 UTSW 18 37,829,001 (GRCm39) missense possibly damaging 0.54
R4234:Pcdhga5 UTSW 18 37,829,001 (GRCm39) missense possibly damaging 0.54
R4235:Pcdhga5 UTSW 18 37,829,001 (GRCm39) missense possibly damaging 0.54
R4815:Pcdhga5 UTSW 18 37,828,247 (GRCm39) missense probably damaging 0.99
R4884:Pcdhga5 UTSW 18 37,827,680 (GRCm39) missense probably damaging 0.99
R5159:Pcdhga5 UTSW 18 37,828,719 (GRCm39) missense probably benign 0.24
R5279:Pcdhga5 UTSW 18 37,827,774 (GRCm39) missense probably benign 0.12
R5393:Pcdhga5 UTSW 18 37,829,720 (GRCm39) missense probably benign 0.25
R6271:Pcdhga5 UTSW 18 37,829,735 (GRCm39) missense probably benign 0.01
R6574:Pcdhga5 UTSW 18 37,828,434 (GRCm39) missense probably damaging 1.00
R7727:Pcdhga5 UTSW 18 37,828,098 (GRCm39) missense probably benign 0.41
R7747:Pcdhga5 UTSW 18 37,829,835 (GRCm39) missense possibly damaging 0.69
R7775:Pcdhga5 UTSW 18 37,828,578 (GRCm39) missense probably damaging 1.00
R7778:Pcdhga5 UTSW 18 37,828,578 (GRCm39) missense probably damaging 1.00
R7819:Pcdhga5 UTSW 18 37,829,633 (GRCm39) missense probably damaging 1.00
R8745:Pcdhga5 UTSW 18 37,828,974 (GRCm39) missense possibly damaging 0.86
R8773:Pcdhga5 UTSW 18 37,829,823 (GRCm39) missense probably benign 0.07
R8780:Pcdhga5 UTSW 18 37,828,826 (GRCm39) missense probably benign 0.00
R8783:Pcdhga5 UTSW 18 37,828,596 (GRCm39) missense probably benign 0.00
R9072:Pcdhga5 UTSW 18 37,829,537 (GRCm39) missense probably benign 0.00
Z1177:Pcdhga5 UTSW 18 37,828,587 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CATTATCTCCAGAGGTAGGTCGC -3'
(R):5'- GCTGTTCCAACACCAACTCTG -3'

Sequencing Primer
(F):5'- CAGAGGTAGGTCGCAGCTTTTC -3'
(R):5'- GTCAGATCCGCTCTTCACG -3'
Posted On 2022-01-20