Incidental Mutation 'R4878:Cdh16'
ID 375066
Institutional Source Beutler Lab
Gene Symbol Cdh16
Ensembl Gene ENSMUSG00000031881
Gene Name cadherin 16
Synonyms KSP-cadherin
MMRRC Submission 042487-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # R4878 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 105328547-105351028 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 105344696 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 478 (D478E)
Ref Sequence ENSEMBL: ENSMUSP00000148726 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000163783] [ENSMUST00000211849] [ENSMUST00000211903] [ENSMUST00000212045] [ENSMUST00000212882] [ENSMUST00000212420] [ENSMUST00000212662] [ENSMUST00000212748] [ENSMUST00000212324] [ENSMUST00000212447] [ENSMUST00000213033]
AlphaFold O88338
Predicted Effect probably damaging
Transcript: ENSMUST00000163783
AA Change: D448E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129663
Gene: ENSMUSG00000031881
AA Change: D448E

DomainStartEndE-ValueType
CA 47 126 2.42e-9 SMART
CA 150 243 3.93e-9 SMART
CA 260 336 5.52e-13 SMART
CA 360 449 1.33e-15 SMART
CA 474 563 3.35e-1 SMART
CA 585 663 7.88e-1 SMART
transmembrane domain 788 810 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000211849
Predicted Effect probably benign
Transcript: ENSMUST00000211889
Predicted Effect probably damaging
Transcript: ENSMUST00000211903
AA Change: D478E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000212045
Predicted Effect probably benign
Transcript: ENSMUST00000212318
Predicted Effect probably damaging
Transcript: ENSMUST00000212882
AA Change: D478E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000212420
AA Change: D19E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000212662
Predicted Effect probably benign
Transcript: ENSMUST00000212748
Predicted Effect probably benign
Transcript: ENSMUST00000212324
Predicted Effect probably benign
Transcript: ENSMUST00000212447
Predicted Effect probably benign
Transcript: ENSMUST00000213033
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212689
Meta Mutation Damage Score 0.7677 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.8%
Validation Efficiency 96% (70/73)
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 cadherin superfamily, genes encoding calcium-dependent, membrane-associated glycoproteins. Mapped to a previously identified cluster of cadherin genes on chromosome 16q22.1, the gene localizes with superfamily members CDH1, CDH3, CDH5, CDH8 and CDH11. The protein consists of an extracellular domain containing 6 cadherin domains, a transmembrane region and a truncated cytoplasmic domain but lacks the prosequence and tripeptide HAV adhesion recognition sequence typical of most classical cadherins. Expression is exclusively in kidney, where the protein functions as the principal mediator of homotypic cellular recognition, playing a role in the morphogenic direction of tissue development. Alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Mar 2011]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4 C A 4: 144,340,415 (GRCm39) H47N possibly damaging Het
Adgrg3 A T 8: 95,761,714 (GRCm39) N159I possibly damaging Het
Agrn A T 4: 156,255,302 (GRCm39) L1449Q probably damaging Het
Anks6 C T 4: 47,030,795 (GRCm39) G601S probably damaging Het
Atg2a A T 19: 6,300,274 (GRCm39) E694V probably damaging Het
Ccndbp1 T A 2: 120,845,172 (GRCm39) L363* probably null Het
Cep295 A T 9: 15,246,252 (GRCm39) W735R probably benign Het
Cnnm2 C T 19: 46,847,522 (GRCm39) P682S probably benign Het
Daam2 C A 17: 49,767,738 (GRCm39) R951L probably damaging Het
Dmxl1 T A 18: 49,984,543 (GRCm39) F180I probably damaging Het
Dnajc6 T C 4: 101,456,231 (GRCm39) probably benign Het
Efemp2 A T 19: 5,530,789 (GRCm39) probably benign Het
Emilin1 A G 5: 31,074,410 (GRCm39) D217G probably benign Het
Enpep A T 3: 129,070,420 (GRCm39) M829K probably benign Het
Epb41l4a A G 18: 33,931,625 (GRCm39) V623A probably damaging Het
Erlin2 T A 8: 27,517,194 (GRCm39) probably null Het
Fbln2 T C 6: 91,233,977 (GRCm39) probably null Het
Gga3 A T 11: 115,482,147 (GRCm39) I157N probably damaging Het
Gtpbp6 C T 5: 110,255,177 (GRCm39) probably benign Het
Hps4 T C 5: 112,523,234 (GRCm39) V584A probably benign Het
Ighv1-50 T C 12: 115,083,567 (GRCm39) Y51C probably benign Het
Kif13b T C 14: 65,043,603 (GRCm39) L1801P probably benign Het
Kif16b T C 2: 142,689,923 (GRCm39) I330V probably damaging Het
Klb A T 5: 65,505,833 (GRCm39) R27W probably damaging Het
Lrif1 A T 3: 106,642,956 (GRCm39) K169M probably damaging Het
Lrrc37 A G 11: 103,508,717 (GRCm39) probably benign Het
Met A G 6: 17,549,058 (GRCm39) D970G probably damaging Het
Mical3 A T 6: 120,946,348 (GRCm39) M1051K possibly damaging Het
Mios A G 6: 8,215,094 (GRCm39) N97D probably benign Het
Msh5 G A 17: 35,257,432 (GRCm39) R321C probably damaging Het
Mybpc1 T C 10: 88,387,292 (GRCm39) Q473R possibly damaging Het
Ncoa1 C T 12: 4,325,004 (GRCm39) G970D probably damaging Het
Neb T C 2: 52,109,406 (GRCm39) Y232C probably damaging Het
Nefh A G 11: 4,891,333 (GRCm39) S429P probably damaging Het
Notch3 C T 17: 32,366,059 (GRCm39) G1014D probably damaging Het
Nup107 A T 10: 117,587,323 (GRCm39) C859S probably benign Het
Or1d2 T C 11: 74,255,674 (GRCm39) Y60H probably damaging Het
Or2n1d T G 17: 38,646,518 (GRCm39) F157V probably benign Het
Or5m3b A G 2: 85,871,799 (GRCm39) I47V probably benign Het
Otud7b T A 3: 96,043,821 (GRCm39) probably benign Het
Pde1a A T 2: 79,708,483 (GRCm39) S312T probably benign Het
Piwil1 G T 5: 128,818,045 (GRCm39) R94L probably damaging Het
Pnma2 G A 14: 67,154,503 (GRCm39) W309* probably null Het
Ppef2 A C 5: 92,376,599 (GRCm39) probably null Het
Rabac1 T A 7: 24,669,392 (GRCm39) Q212L possibly damaging Het
Rad51 T C 2: 118,950,973 (GRCm39) probably benign Het
Rbm48 A T 5: 3,641,853 (GRCm39) probably benign Het
Rft1 C T 14: 30,399,761 (GRCm39) S315L probably benign Het
Rgs13 C T 1: 144,047,217 (GRCm39) M1I probably null Het
Rhbg A C 3: 88,154,760 (GRCm39) S215A probably benign Het
Rufy2 A T 10: 62,837,990 (GRCm39) N379I probably damaging Het
Slc17a1 T C 13: 24,064,637 (GRCm39) L367P probably damaging Het
Slc25a39 G A 11: 102,294,501 (GRCm39) R308C probably benign Het
Smo A G 6: 29,753,570 (GRCm39) T149A probably benign Het
Sqle A G 15: 59,187,934 (GRCm39) K81E probably benign Het
Tfpi A G 2: 84,282,899 (GRCm39) probably null Het
Tnk2 A G 16: 32,498,448 (GRCm39) D572G probably damaging Het
Ubr5 A T 15: 38,006,808 (GRCm39) M1149K probably benign Het
Utrn T A 10: 12,603,502 (GRCm39) Q626L probably damaging Het
Virma T A 4: 11,544,971 (GRCm39) H1643Q probably damaging Het
Wnt3 G T 11: 103,699,031 (GRCm39) G46C possibly damaging Het
Zkscan7 G T 9: 122,719,865 (GRCm39) G184* probably null Het
Other mutations in Cdh16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00418:Cdh16 APN 8 105,350,045 (GRCm39) missense probably benign 0.00
IGL01406:Cdh16 APN 8 105,345,044 (GRCm39) missense possibly damaging 0.93
IGL01477:Cdh16 APN 8 105,345,140 (GRCm39) missense probably damaging 0.97
IGL01478:Cdh16 APN 8 105,341,120 (GRCm39) splice site probably benign
IGL01783:Cdh16 APN 8 105,344,488 (GRCm39) missense probably damaging 1.00
IGL01951:Cdh16 APN 8 105,344,323 (GRCm39) missense probably damaging 0.99
IGL02390:Cdh16 APN 8 105,348,606 (GRCm39) missense probably damaging 1.00
IGL02646:Cdh16 APN 8 105,348,737 (GRCm39) critical splice acceptor site probably null
IGL02938:Cdh16 APN 8 105,343,561 (GRCm39) intron probably benign
IGL02961:Cdh16 APN 8 105,341,837 (GRCm39) missense probably damaging 1.00
IGL03378:Cdh16 APN 8 105,345,917 (GRCm39) missense probably benign 0.09
PIT1430001:Cdh16 UTSW 8 105,344,271 (GRCm39) missense probably benign 0.05
R0016:Cdh16 UTSW 8 105,344,264 (GRCm39) missense probably benign 0.22
R1233:Cdh16 UTSW 8 105,345,114 (GRCm39) missense possibly damaging 0.89
R1470:Cdh16 UTSW 8 105,345,003 (GRCm39) missense probably benign 0.04
R1470:Cdh16 UTSW 8 105,345,003 (GRCm39) missense probably benign 0.04
R1490:Cdh16 UTSW 8 105,348,702 (GRCm39) missense probably damaging 1.00
R1752:Cdh16 UTSW 8 105,346,505 (GRCm39) critical splice donor site probably null
R1892:Cdh16 UTSW 8 105,344,631 (GRCm39) missense possibly damaging 0.69
R1913:Cdh16 UTSW 8 105,343,100 (GRCm39) missense probably benign 0.11
R1933:Cdh16 UTSW 8 105,344,595 (GRCm39) missense possibly damaging 0.71
R1934:Cdh16 UTSW 8 105,344,595 (GRCm39) missense possibly damaging 0.71
R2029:Cdh16 UTSW 8 105,344,434 (GRCm39) missense probably damaging 1.00
R2057:Cdh16 UTSW 8 105,348,597 (GRCm39) nonsense probably null
R2337:Cdh16 UTSW 8 105,348,902 (GRCm39) missense probably benign 0.09
R3848:Cdh16 UTSW 8 105,344,473 (GRCm39) missense possibly damaging 0.64
R3850:Cdh16 UTSW 8 105,344,473 (GRCm39) missense possibly damaging 0.64
R3892:Cdh16 UTSW 8 105,342,959 (GRCm39) missense probably damaging 1.00
R4167:Cdh16 UTSW 8 105,344,362 (GRCm39) missense probably benign 0.02
R4577:Cdh16 UTSW 8 105,345,191 (GRCm39) missense probably damaging 1.00
R4657:Cdh16 UTSW 8 105,341,858 (GRCm39) splice site probably null
R4726:Cdh16 UTSW 8 105,342,664 (GRCm39) missense probably damaging 0.97
R4843:Cdh16 UTSW 8 105,348,172 (GRCm39) missense probably damaging 1.00
R5013:Cdh16 UTSW 8 105,343,660 (GRCm39) missense probably damaging 1.00
R5642:Cdh16 UTSW 8 105,344,677 (GRCm39) missense probably damaging 0.98
R6134:Cdh16 UTSW 8 105,342,697 (GRCm39) missense probably benign 0.15
R6311:Cdh16 UTSW 8 105,341,065 (GRCm39) missense probably benign 0.40
R6352:Cdh16 UTSW 8 105,343,624 (GRCm39) missense probably damaging 0.99
R6382:Cdh16 UTSW 8 105,348,175 (GRCm39) missense possibly damaging 0.78
R6713:Cdh16 UTSW 8 105,346,617 (GRCm39) nonsense probably null
R6732:Cdh16 UTSW 8 105,345,165 (GRCm39) missense probably benign 0.28
R6755:Cdh16 UTSW 8 105,345,880 (GRCm39) missense probably damaging 1.00
R6913:Cdh16 UTSW 8 105,348,896 (GRCm39) missense probably benign 0.00
R7037:Cdh16 UTSW 8 105,344,267 (GRCm39) nonsense probably null
R7202:Cdh16 UTSW 8 105,340,780 (GRCm39) missense unknown
R7413:Cdh16 UTSW 8 105,346,572 (GRCm39) missense probably benign 0.00
R7460:Cdh16 UTSW 8 105,348,923 (GRCm39) missense possibly damaging 0.88
R8017:Cdh16 UTSW 8 105,342,899 (GRCm39) missense probably damaging 1.00
R8187:Cdh16 UTSW 8 105,344,870 (GRCm39) missense probably damaging 1.00
R8261:Cdh16 UTSW 8 105,341,811 (GRCm39) nonsense probably null
R8278:Cdh16 UTSW 8 105,345,107 (GRCm39) missense probably benign 0.39
R8421:Cdh16 UTSW 8 105,348,602 (GRCm39) missense probably benign 0.00
R8491:Cdh16 UTSW 8 105,343,681 (GRCm39) missense probably damaging 1.00
R8725:Cdh16 UTSW 8 105,344,874 (GRCm39) missense probably benign 0.00
R8810:Cdh16 UTSW 8 105,341,136 (GRCm39) missense probably damaging 0.97
R9246:Cdh16 UTSW 8 105,344,602 (GRCm39) missense probably benign
R9267:Cdh16 UTSW 8 105,341,834 (GRCm39) missense probably damaging 1.00
R9661:Cdh16 UTSW 8 105,345,612 (GRCm39) missense probably benign 0.41
R9689:Cdh16 UTSW 8 105,341,108 (GRCm39) missense probably benign
RF005:Cdh16 UTSW 8 105,343,684 (GRCm39) missense probably damaging 1.00
RF024:Cdh16 UTSW 8 105,343,684 (GRCm39) missense probably damaging 1.00
X0067:Cdh16 UTSW 8 105,346,649 (GRCm39) missense probably damaging 1.00
Z1176:Cdh16 UTSW 8 105,341,817 (GRCm39) missense probably damaging 1.00
Z1177:Cdh16 UTSW 8 105,350,072 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- AAACCAGTGAGTTCGGGGTC -3'
(R):5'- ATGTGAGGTGACAGTCATGG -3'

Sequencing Primer
(F):5'- GGTCACTGTGTGGGTCAC -3'
(R):5'- GACAGACGTCAACAACCATG -3'
Posted On 2016-03-17