Incidental Mutation 'R1770:Pcdhb16'
ID 196526
Institutional Source Beutler Lab
Gene Symbol Pcdhb16
Ensembl Gene ENSMUSG00000047910
Gene Name protocadherin beta 16
Synonyms Pcdhb8, PcdhbP
MMRRC Submission 039801-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R1770 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 37610867-37616091 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 37612233 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Tryptophan at position 398 (G398W)
Ref Sequence ENSEMBL: ENSMUSP00000056347 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050034] [ENSMUST00000051442] [ENSMUST00000115661] [ENSMUST00000194544]
AlphaFold Q91Y03
Predicted Effect probably benign
Transcript: ENSMUST00000050034
SMART Domains Protein: ENSMUSP00000059598
Gene: ENSMUSG00000047033

DomainStartEndE-ValueType
Pfam:Cadherin_2 30 112 2.6e-33 PFAM
CA 155 240 7.79e-22 SMART
CA 264 345 4.37e-25 SMART
CA 368 449 4.4e-21 SMART
CA 473 559 7.38e-23 SMART
CA 589 670 4.48e-13 SMART
Pfam:Cadherin_C_2 686 770 5.3e-25 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000051442
AA Change: G398W

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000056347
Gene: ENSMUSG00000047910
AA Change: G398W

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
CA 46 132 7.7e-1 SMART
CA 156 241 1.93e-17 SMART
CA 265 346 4.2e-27 SMART
CA 369 450 1.08e-24 SMART
CA 474 560 3.31e-25 SMART
CA 590 671 2.87e-11 SMART
Pfam:Cadherin_C_2 687 770 4.1e-27 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: ENSMUST00000193984
Predicted Effect probably benign
Transcript: ENSMUST00000194544
SMART Domains Protein: ENSMUSP00000141847
Gene: ENSMUSG00000102836

DomainStartEndE-ValueType
Blast:CA 18 66 5e-20 BLAST
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.1%
  • 20x: 91.8%
Validation Efficiency 92% (69/75)
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 beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd4 T C 12: 84,661,874 (GRCm39) T84A probably benign Het
Adgra1 T A 7: 139,453,947 (GRCm39) Y161* probably null Het
Aldoart1 G T 4: 72,770,173 (GRCm39) H212N probably benign Het
Aldob A G 4: 49,536,861 (GRCm39) Y343H probably damaging Het
Ankrd17 A T 5: 90,391,235 (GRCm39) V2036E possibly damaging Het
Ass1 A G 2: 31,376,528 (GRCm39) T131A probably benign Het
Baz1a C T 12: 54,945,293 (GRCm39) R1354H probably damaging Het
C2cd2l A G 9: 44,228,108 (GRCm39) V71A probably benign Het
C4b T A 17: 34,955,901 (GRCm39) N678I possibly damaging Het
Carmil1 A G 13: 24,357,657 (GRCm39) L64P probably damaging Het
Cdh18 T C 15: 23,474,487 (GRCm39) S786P probably benign Het
Cep135 A G 5: 76,751,042 (GRCm39) E296G possibly damaging Het
Chml G A 1: 175,515,444 (GRCm39) T159I probably benign Het
Cntn3 C T 6: 102,246,166 (GRCm39) E328K possibly damaging Het
Cstf1 A G 2: 172,214,983 (GRCm39) I35V possibly damaging Het
Cyp2c65 A G 19: 39,070,642 (GRCm39) K275R probably benign Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dbx2 T C 15: 95,522,615 (GRCm39) E364G probably benign Het
Dcaf13 A T 15: 38,993,633 (GRCm39) N242I probably damaging Het
Dcc A G 18: 71,579,470 (GRCm39) V701A probably benign Het
Elapor2 A T 5: 9,468,021 (GRCm39) T230S probably benign Het
Fastkd5 A T 2: 130,456,200 (GRCm39) Y797N probably damaging Het
Fat4 T A 3: 39,064,417 (GRCm39) I4791K probably damaging Het
Gm3852 T C 1: 46,051,048 (GRCm39) I45V possibly damaging Het
Gng4 A G 13: 13,999,851 (GRCm39) D40G probably damaging Het
Gns A G 10: 121,213,952 (GRCm39) D209G probably benign Het
Kif6 C A 17: 50,210,677 (GRCm39) Q791K possibly damaging Het
Klhl35 G A 7: 99,123,082 (GRCm39) V569M possibly damaging Het
Krt1c A G 15: 101,719,589 (GRCm39) S694P unknown Het
Lrrc8c A G 5: 105,754,603 (GRCm39) Y126C probably damaging Het
Mad2l1bp A G 17: 46,463,838 (GRCm39) V62A probably benign Het
Map1b T C 13: 99,567,001 (GRCm39) R1907G unknown Het
Mertk A G 2: 128,592,094 (GRCm39) I273V probably benign Het
Mfsd4b1 A G 10: 39,879,223 (GRCm39) Y225H probably damaging Het
Mrc2 T C 11: 105,229,619 (GRCm39) V684A probably damaging Het
Msh6 G A 17: 88,287,651 (GRCm39) W97* probably null Het
Mtmr10 A G 7: 63,986,469 (GRCm39) I516V possibly damaging Het
Myo7a A T 7: 97,761,813 (GRCm39) probably benign Het
Ndufs5 T C 4: 123,606,661 (GRCm39) Y92C probably benign Het
Nlrp1b C T 11: 71,050,979 (GRCm39) V1035I probably benign Het
Ntrk2 A G 13: 59,009,132 (GRCm39) R308G possibly damaging Het
Or12e13 A G 2: 87,663,643 (GRCm39) I87V probably benign Het
Plpbp T A 8: 27,543,326 (GRCm39) S237T probably damaging Het
Pnpla6 T A 8: 3,584,634 (GRCm39) F769I possibly damaging Het
Polk A G 13: 96,631,950 (GRCm39) V261A probably damaging Het
Prss52 C T 14: 64,351,082 (GRCm39) A289V probably damaging Het
Puf60 T C 15: 75,942,723 (GRCm39) K407E probably benign Het
Pzp T C 6: 128,462,580 (GRCm39) D1455G probably damaging Het
Ranbp17 T C 11: 33,167,301 (GRCm39) N1054S probably benign Het
Sdk2 A G 11: 113,684,567 (GRCm39) S1965P probably benign Het
Spryd7 T C 14: 61,777,654 (GRCm39) Y142C probably damaging Het
Srrt A T 5: 137,298,122 (GRCm39) probably benign Het
Stk10 A G 11: 32,572,464 (GRCm39) E935G possibly damaging Het
Tas2r115 G A 6: 132,714,934 (GRCm39) R6C probably damaging Het
Tdrd7 T A 4: 45,987,681 (GRCm39) probably benign Het
Trim29 A T 9: 43,243,673 (GRCm39) Q564L probably damaging Het
Trim5 T C 7: 103,925,868 (GRCm39) D231G probably damaging Het
Trpv2 A G 11: 62,487,787 (GRCm39) K676E probably benign Het
Ttn T C 2: 76,583,859 (GRCm39) R22383G probably damaging Het
Ugt1a2 A G 1: 88,129,160 (GRCm39) I268V probably benign Het
Ugt8a T C 3: 125,667,852 (GRCm39) N330D probably benign Het
Utrn G A 10: 12,351,040 (GRCm39) H2822Y probably damaging Het
Vmn1r176 G A 7: 23,534,946 (GRCm39) A69V probably benign Het
Vmn2r106 T C 17: 20,488,560 (GRCm39) Y613C probably damaging Het
Wdfy1 A T 1: 79,686,857 (GRCm39) W296R probably damaging Het
Zfp11 G A 5: 129,734,822 (GRCm39) T213I possibly damaging Het
Zfp142 A T 1: 74,618,790 (GRCm39) F193I probably damaging Het
Zfp764 G A 7: 127,004,739 (GRCm39) Q131* probably null Het
Other mutations in Pcdhb16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00428:Pcdhb16 APN 18 37,611,623 (GRCm39) missense possibly damaging 0.95
IGL00540:Pcdhb16 APN 18 37,612,851 (GRCm39) missense probably damaging 1.00
IGL01380:Pcdhb16 APN 18 37,612,498 (GRCm39) missense probably benign 0.30
IGL02043:Pcdhb16 APN 18 37,612,248 (GRCm39) missense probably benign 0.05
IGL02103:Pcdhb16 APN 18 37,613,161 (GRCm39) missense probably benign 0.19
IGL02151:Pcdhb16 APN 18 37,611,411 (GRCm39) missense possibly damaging 0.80
IGL02619:Pcdhb16 APN 18 37,611,270 (GRCm39) nonsense probably null
IGL02832:Pcdhb16 APN 18 37,611,527 (GRCm39) missense probably damaging 1.00
IGL03190:Pcdhb16 APN 18 37,612,396 (GRCm39) missense probably damaging 1.00
IGL03274:Pcdhb16 APN 18 37,612,285 (GRCm39) missense probably benign 0.04
IGL03292:Pcdhb16 APN 18 37,613,437 (GRCm39) missense probably damaging 0.99
BB008:Pcdhb16 UTSW 18 37,611,510 (GRCm39) missense possibly damaging 0.90
BB018:Pcdhb16 UTSW 18 37,611,510 (GRCm39) missense possibly damaging 0.90
R0076:Pcdhb16 UTSW 18 37,611,412 (GRCm39) missense probably damaging 1.00
R0423:Pcdhb16 UTSW 18 37,613,422 (GRCm39) missense probably benign 0.00
R1191:Pcdhb16 UTSW 18 37,612,926 (GRCm39) missense probably damaging 1.00
R1254:Pcdhb16 UTSW 18 37,612,348 (GRCm39) missense possibly damaging 0.67
R1417:Pcdhb16 UTSW 18 37,611,180 (GRCm39) missense probably benign 0.00
R1468:Pcdhb16 UTSW 18 37,611,142 (GRCm39) missense probably damaging 1.00
R1468:Pcdhb16 UTSW 18 37,611,142 (GRCm39) missense probably damaging 1.00
R1517:Pcdhb16 UTSW 18 37,611,151 (GRCm39) missense probably benign 0.03
R1645:Pcdhb16 UTSW 18 37,612,423 (GRCm39) missense probably benign 0.05
R1706:Pcdhb16 UTSW 18 37,612,705 (GRCm39) missense probably benign 0.26
R1809:Pcdhb16 UTSW 18 37,611,441 (GRCm39) missense probably damaging 0.99
R1946:Pcdhb16 UTSW 18 37,611,952 (GRCm39) nonsense probably null
R1967:Pcdhb16 UTSW 18 37,612,715 (GRCm39) missense probably damaging 1.00
R2008:Pcdhb16 UTSW 18 37,611,316 (GRCm39) missense probably damaging 1.00
R2220:Pcdhb16 UTSW 18 37,612,020 (GRCm39) missense probably benign 0.16
R2432:Pcdhb16 UTSW 18 37,612,983 (GRCm39) missense probably damaging 0.98
R3121:Pcdhb16 UTSW 18 37,611,271 (GRCm39) missense possibly damaging 0.55
R3692:Pcdhb16 UTSW 18 37,611,340 (GRCm39) missense probably benign 0.28
R3766:Pcdhb16 UTSW 18 37,611,249 (GRCm39) nonsense probably null
R3891:Pcdhb16 UTSW 18 37,612,422 (GRCm39) missense probably benign 0.19
R3892:Pcdhb16 UTSW 18 37,612,422 (GRCm39) missense probably benign 0.19
R4551:Pcdhb16 UTSW 18 37,612,887 (GRCm39) missense probably damaging 1.00
R4614:Pcdhb16 UTSW 18 37,613,398 (GRCm39) missense probably benign 0.22
R4716:Pcdhb16 UTSW 18 37,612,458 (GRCm39) missense probably benign 0.02
R4908:Pcdhb16 UTSW 18 37,612,894 (GRCm39) splice site probably null
R5185:Pcdhb16 UTSW 18 37,613,142 (GRCm39) missense possibly damaging 0.96
R5225:Pcdhb16 UTSW 18 37,613,011 (GRCm39) missense probably benign 0.02
R5422:Pcdhb16 UTSW 18 37,612,920 (GRCm39) missense probably damaging 1.00
R5939:Pcdhb16 UTSW 18 37,611,117 (GRCm39) missense probably benign
R6149:Pcdhb16 UTSW 18 37,612,208 (GRCm39) missense possibly damaging 0.95
R6647:Pcdhb16 UTSW 18 37,612,225 (GRCm39) missense possibly damaging 0.57
R7080:Pcdhb16 UTSW 18 37,611,516 (GRCm39) nonsense probably null
R7354:Pcdhb16 UTSW 18 37,611,177 (GRCm39) missense possibly damaging 0.79
R7413:Pcdhb16 UTSW 18 37,611,975 (GRCm39) nonsense probably null
R7459:Pcdhb16 UTSW 18 37,612,606 (GRCm39) missense probably benign 0.26
R7655:Pcdhb16 UTSW 18 37,612,458 (GRCm39) missense probably benign 0.02
R7656:Pcdhb16 UTSW 18 37,612,458 (GRCm39) missense probably benign 0.02
R7827:Pcdhb16 UTSW 18 37,611,904 (GRCm39) missense possibly damaging 0.95
R7921:Pcdhb16 UTSW 18 37,611,298 (GRCm39) missense probably damaging 1.00
R7931:Pcdhb16 UTSW 18 37,611,510 (GRCm39) missense possibly damaging 0.90
R8133:Pcdhb16 UTSW 18 37,611,185 (GRCm39) missense probably damaging 0.99
R8749:Pcdhb16 UTSW 18 37,612,392 (GRCm39) missense possibly damaging 0.66
R9468:Pcdhb16 UTSW 18 37,611,482 (GRCm39) missense probably damaging 0.99
R9540:Pcdhb16 UTSW 18 37,613,320 (GRCm39) missense probably benign 0.00
Z1176:Pcdhb16 UTSW 18 37,612,213 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GAAAATGCACGATTCTGGCCCAAG -3'
(R):5'- TGAGCATTGGAGCCTGAGTCTGAG -3'

Sequencing Primer
(F):5'- CCAAGTCTTGGATGTGAATGACC -3'
(R):5'- GTTCTCACGGATGAACATGGTATAG -3'
Posted On 2014-05-23