Incidental Mutation 'R5642:Cdh16'
ID 440755
Institutional Source Beutler Lab
Gene Symbol Cdh16
Ensembl Gene ENSMUSG00000031881
Gene Name cadherin 16
Synonyms KSP-cadherin
MMRRC Submission 043290-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R5642 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 105328547-105351028 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 105344677 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 485 (F485L)
Ref Sequence ENSEMBL: ENSMUSP00000148478 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000163783] [ENSMUST00000211849] [ENSMUST00000211903] [ENSMUST00000212045] [ENSMUST00000212324] [ENSMUST00000212882] [ENSMUST00000212420] [ENSMUST00000213033] [ENSMUST00000212447] [ENSMUST00000212662] [ENSMUST00000212748]
AlphaFold O88338
Predicted Effect probably damaging
Transcript: ENSMUST00000163783
AA Change: F455L

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000129663
Gene: ENSMUSG00000031881
AA Change: F455L

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: F485L

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000212045
Predicted Effect probably benign
Transcript: ENSMUST00000212318
Predicted Effect probably benign
Transcript: ENSMUST00000212324
Predicted Effect probably damaging
Transcript: ENSMUST00000212882
AA Change: F485L

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000212420
AA Change: F26L

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000213033
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212689
Predicted Effect probably benign
Transcript: ENSMUST00000212447
Predicted Effect probably benign
Transcript: ENSMUST00000212662
Predicted Effect probably benign
Transcript: ENSMUST00000212748
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
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 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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 A G 16: 14,261,319 (GRCm39) E699G probably damaging Het
Ap4e1 T A 2: 126,906,899 (GRCm39) V1053D possibly damaging Het
Apobec1 T A 6: 122,558,456 (GRCm39) I100F probably damaging Het
Atp6v1g3 G T 1: 138,211,480 (GRCm39) K53N probably damaging Het
Bag3 C T 7: 128,147,830 (GRCm39) R482W probably damaging Het
Brme1 C T 8: 84,894,114 (GRCm39) T427I probably damaging Het
Cacna1i A G 15: 80,279,279 (GRCm39) T2007A possibly damaging Het
Cd44 T C 2: 102,731,687 (GRCm39) D2G probably damaging Het
Cdadc1 T A 14: 59,827,372 (GRCm39) I100F possibly damaging Het
Cdhr5 T A 7: 140,849,110 (GRCm39) K817* probably null Het
Cfap46 G T 7: 139,258,493 (GRCm39) P260Q probably damaging Het
Clec11a C T 7: 43,955,832 (GRCm39) E72K possibly damaging Het
Cnr2 C A 4: 135,644,076 (GRCm39) N51K probably damaging Het
Col3a1 T A 1: 45,370,872 (GRCm39) probably benign Het
Cxcr1 G A 1: 74,230,987 (GRCm39) T345M probably damaging Het
Cyp2s1 T C 7: 25,515,744 (GRCm39) probably null Het
Dalrd3 C T 9: 108,449,489 (GRCm39) T474M probably damaging Het
Ddit4 C T 10: 59,787,327 (GRCm39) S3N probably benign Het
Ddx41 T C 13: 55,683,708 (GRCm39) K108E possibly damaging Het
Dnaaf10 A G 11: 17,177,263 (GRCm39) N207S possibly damaging Het
Ece2 A T 16: 20,462,477 (GRCm39) H732L probably benign Het
Etv3 T G 3: 87,443,322 (GRCm39) L302R possibly damaging Het
Fam135b A G 15: 71,333,985 (GRCm39) S1070P probably damaging Het
Fhip1b A T 7: 105,039,089 (GRCm39) I50N probably damaging Het
Gm11567 T A 11: 99,770,437 (GRCm39) I125N unknown Het
Grm3 A G 5: 9,620,536 (GRCm39) L236P probably benign Het
Hip1 T A 5: 135,461,939 (GRCm39) R97* probably null Het
Hoxa5 T C 6: 52,181,197 (GRCm39) Y45C probably damaging Het
Ighg1 T A 12: 113,292,654 (GRCm39) H305L probably damaging Het
Inpp5b T A 4: 124,676,229 (GRCm39) C362S probably benign Het
Kif1c A G 11: 70,599,273 (GRCm39) K391E probably benign Het
Klf9 T C 19: 23,119,246 (GRCm39) V43A probably benign Het
Krt28 T A 11: 99,265,320 (GRCm39) I116F probably damaging Het
Lct A T 1: 128,222,969 (GRCm39) D1439E probably damaging Het
Liph G A 16: 21,784,745 (GRCm39) T284M possibly damaging Het
Lrrc75b T C 10: 75,393,055 (GRCm39) K98R possibly damaging Het
Lypd4 T C 7: 24,564,604 (GRCm39) Q178R probably benign Het
Map1a T A 2: 121,136,524 (GRCm39) S2209T probably damaging Het
Map3k21 C T 8: 126,665,563 (GRCm39) T584I probably benign Het
Map3k6 T C 4: 132,972,855 (GRCm39) V338A probably damaging Het
Mapk8ip3 A T 17: 25,122,285 (GRCm39) V699E possibly damaging Het
Mtarc1 A C 1: 184,543,116 (GRCm39) S71A probably damaging Het
Nckap1l T C 15: 103,363,452 (GRCm39) S53P probably benign Het
Nt5e T C 9: 88,209,740 (GRCm39) M1T probably null Het
Nudt22 T C 19: 6,972,896 (GRCm39) H64R probably damaging Het
Or1o11 A T 17: 37,756,663 (GRCm39) T84S probably damaging Het
Or2t44 A T 11: 58,677,654 (GRCm39) Y198F probably damaging Het
Or2w3 T C 11: 58,557,225 (GRCm39) I280T possibly damaging Het
Or52b1 A T 7: 104,978,772 (GRCm39) V209D probably damaging Het
Or5ac16 A G 16: 59,022,369 (GRCm39) L140P probably damaging Het
Or8k17 T C 2: 86,066,276 (GRCm39) N294S probably damaging Het
Otogl T C 10: 107,722,413 (GRCm39) I314V probably benign Het
Pan2 G T 10: 128,143,969 (GRCm39) E106D probably benign Het
Papss1 T A 3: 131,337,565 (GRCm39) Y554* probably null Het
Pcnx1 T C 12: 81,941,803 (GRCm39) V67A possibly damaging Het
Pdpk1 A C 17: 24,325,829 (GRCm39) Y122* probably null Het
Pkd1l1 A T 11: 8,829,202 (GRCm39) N1463K probably damaging Het
Ptgfrn C A 3: 100,950,678 (GRCm39) M878I probably damaging Het
Ranbp3 G A 17: 57,017,703 (GRCm39) G453E probably benign Het
Rapgef2 T C 3: 79,002,157 (GRCm39) D261G probably damaging Het
Reep2 A G 18: 34,979,271 (GRCm39) S199G probably benign Het
Rnpep G A 1: 135,205,259 (GRCm39) T202I probably damaging Het
Sass6 T A 3: 116,401,145 (GRCm39) probably null Het
Sema3e A G 5: 14,212,257 (GRCm39) D111G probably damaging Het
Slc29a4 A G 5: 142,697,727 (GRCm39) E60G probably damaging Het
Spata31g1 T C 4: 42,971,831 (GRCm39) L388P possibly damaging Het
Spata31h1 T A 10: 82,120,317 (GRCm39) Q4231L probably damaging Het
Sptlc3 T C 2: 139,388,328 (GRCm39) Y107H probably damaging Het
Stx6 T C 1: 155,073,925 (GRCm39) I245T probably benign Het
Syne2 T C 12: 75,965,306 (GRCm39) S774P probably damaging Het
Tbc1d16 T A 11: 119,049,617 (GRCm39) Q293L probably damaging Het
Tbc1d30 T C 10: 121,132,692 (GRCm39) D224G probably damaging Het
Tbc1d32 T A 10: 56,026,973 (GRCm39) N759Y possibly damaging Het
Tdrd12 G T 7: 35,210,725 (GRCm39) A166E probably damaging Het
Tex14 A G 11: 87,405,046 (GRCm39) R653G probably benign Het
Them6 A T 15: 74,593,654 (GRCm39) R171W probably null Het
Tln2 T C 9: 67,203,640 (GRCm39) T489A probably benign Het
Tmem87a A G 2: 120,234,427 (GRCm39) F39L probably benign Het
Toporsl T A 4: 52,611,515 (GRCm39) C469* probably null Het
Tpr T C 1: 150,299,569 (GRCm39) S1147P probably damaging Het
Trp53bp1 T C 2: 121,067,143 (GRCm39) M528V probably benign Het
Trpm6 T A 19: 18,807,571 (GRCm39) C1039S probably damaging Het
Ttc16 T A 2: 32,665,348 (GRCm39) S5C probably damaging Het
Ttn T C 2: 76,617,412 (GRCm39) Y14607C probably damaging Het
Usp6nl T C 2: 6,435,275 (GRCm39) F345L probably damaging Het
Vmn1r205 C T 13: 22,776,206 (GRCm39) G299R probably benign Het
Vmn2r74 G A 7: 85,606,588 (GRCm39) H253Y probably benign Het
Vps13d A T 4: 144,896,872 (GRCm39) D343E possibly damaging Het
Vwf A G 6: 125,580,381 (GRCm39) E543G Het
Zfat A T 15: 68,052,765 (GRCm39) V343E probably damaging Het
Zfp316 T C 5: 143,249,846 (GRCm39) E139G unknown Het
Zfp943 T A 17: 22,211,813 (GRCm39) C300S probably damaging Het
Zkscan16 A G 4: 58,957,748 (GRCm39) K677E probably benign 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
R4878:Cdh16 UTSW 8 105,344,696 (GRCm39) missense probably damaging 1.00
R5013:Cdh16 UTSW 8 105,343,660 (GRCm39) missense probably damaging 1.00
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'- ACATGTGAGGTGACAGTCATG -3'

Sequencing Primer
(F):5'- GGTCACTGTGTGGGTCAC -3'
(R):5'- CCTGAGTTCATCAATTCCCAGGTAAG -3'
Posted On 2016-11-08