Incidental Mutation 'IGL02187:Cdhr2'
ID 283682
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cdhr2
Ensembl Gene ENSMUSG00000034918
Gene Name cadherin-related family member 2
Synonyms Pcdh24, LOC268663
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # IGL02187
Quality Score
Status
Chromosome 13
Chromosomal Location 54849276-54884475 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 54881523 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 1081 (T1081I)
Ref Sequence ENSEMBL: ENSMUSP00000043596 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037145] [ENSMUST00000099506] [ENSMUST00000135343]
AlphaFold E9Q7P9
Predicted Effect possibly damaging
Transcript: ENSMUST00000037145
AA Change: T1081I

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000043596
Gene: ENSMUSG00000034918
AA Change: T1081I

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
CA 48 122 8.62e-15 SMART
CA 146 239 1.4e-2 SMART
CA 263 351 2.19e-16 SMART
CA 391 478 4.22e-9 SMART
CA 503 584 2.15e-24 SMART
CA 605 693 6.78e-22 SMART
CA 715 805 1.78e-16 SMART
CA 830 925 7.57e-11 SMART
CA 950 1042 7.1e-2 SMART
low complexity region 1121 1147 N/A INTRINSIC
transmembrane domain 1153 1175 N/A INTRINSIC
low complexity region 1195 1209 N/A INTRINSIC
low complexity region 1234 1250 N/A INTRINSIC
low complexity region 1264 1277 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000099506
SMART Domains Protein: ENSMUSP00000097106
Gene: ENSMUSG00000069227

DomainStartEndE-ValueType
low complexity region 31 43 N/A INTRINSIC
internal_repeat_1 80 256 2.14e-7 PROSPERO
internal_repeat_2 95 267 4.89e-7 PROSPERO
low complexity region 314 324 N/A INTRINSIC
low complexity region 424 443 N/A INTRINSIC
internal_repeat_2 448 620 4.89e-7 PROSPERO
internal_repeat_1 457 643 2.14e-7 PROSPERO
low complexity region 684 703 N/A INTRINSIC
low complexity region 758 773 N/A INTRINSIC
Pfam:GRIN_C 790 929 4.2e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000135343
SMART Domains Protein: ENSMUSP00000115539
Gene: ENSMUSG00000069227

DomainStartEndE-ValueType
low complexity region 31 43 N/A INTRINSIC
internal_repeat_1 80 256 2.14e-7 PROSPERO
internal_repeat_2 95 267 4.89e-7 PROSPERO
low complexity region 314 324 N/A INTRINSIC
low complexity region 424 443 N/A INTRINSIC
internal_repeat_2 448 620 4.89e-7 PROSPERO
internal_repeat_1 457 643 2.14e-7 PROSPERO
low complexity region 684 703 N/A INTRINSIC
low complexity region 758 773 N/A INTRINSIC
Pfam:GRIN_C 787 932 2.6e-49 PFAM
Coding Region Coverage
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 protocadherin family, which represents a subset of the larger cadherin superfamily. The members of the protocadherin family encode non-classical cadherins that function as calcium-dependent cell-cell adhesion molecules. This protocadherin represents a new candidate for tumor suppression. Alternatively spliced transcript variants that encode the same protein have been identified. [provided by RefSeq, Jan 2010]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts18 C A 8: 114,439,826 (GRCm39) E922D possibly damaging Het
Asxl3 T A 18: 22,658,035 (GRCm39) M2015K probably damaging Het
C8a C A 4: 104,719,933 (GRCm39) R15L probably damaging Het
Catsperg2 A G 7: 29,420,791 (GRCm39) V47A probably benign Het
Cenatac C T 9: 44,322,084 (GRCm39) probably benign Het
Cep85 T A 4: 133,858,616 (GRCm39) M752L possibly damaging Het
Cxcr3 T A X: 100,776,483 (GRCm39) S60C probably damaging Het
Cyp24a1 T A 2: 170,336,013 (GRCm39) N208I probably damaging Het
Cyp2c38 A G 19: 39,424,649 (GRCm39) I223T probably benign Het
Dennd6a A G 14: 26,328,081 (GRCm39) I35V probably benign Het
Emb T G 13: 117,405,507 (GRCm39) probably benign Het
Fbxo3 T C 2: 103,858,295 (GRCm39) Y30H probably damaging Het
Fnbp1l G A 3: 122,362,449 (GRCm39) R120* probably null Het
Galnt2 T C 8: 125,032,245 (GRCm39) probably benign Het
Gckr T C 5: 31,464,768 (GRCm39) probably benign Het
Gpr101 A G X: 56,546,841 (GRCm39) F103S probably damaging Het
Gprasp1 T A X: 134,699,912 (GRCm39) V35E probably damaging Het
Ift80 C A 3: 68,892,789 (GRCm39) W133L probably damaging Het
Impdh1 C A 6: 29,207,086 (GRCm39) probably benign Het
Ino80 T C 2: 119,275,938 (GRCm39) probably benign Het
Kansl1 A T 11: 104,269,657 (GRCm39) probably null Het
Klhl20 C T 1: 160,937,280 (GRCm39) V32I probably benign Het
Lrfn3 A G 7: 30,055,389 (GRCm39) S519P probably damaging Het
Mrpl51 A G 6: 125,170,294 (GRCm39) N100S probably benign Het
Mybpc3 T C 2: 90,965,797 (GRCm39) I1203T probably benign Het
Nbr1 A G 11: 101,460,185 (GRCm39) I394V possibly damaging Het
Nfasc G A 1: 132,498,219 (GRCm39) T1155M probably damaging Het
Or7g34 T A 9: 19,478,393 (GRCm39) T96S probably benign Het
Pan3 T C 5: 147,463,398 (GRCm39) I440T probably benign Het
Patz1 T C 11: 3,241,134 (GRCm39) L174P probably damaging Het
Paxx A G 2: 25,350,668 (GRCm39) L62P probably damaging Het
Plekhh1 T C 12: 79,119,592 (GRCm39) S972P probably damaging Het
Ppp1r13b G T 12: 111,801,472 (GRCm39) T404K probably damaging Het
Prkaa2 T C 4: 104,904,363 (GRCm39) N238S probably benign Het
Prpf6 T C 2: 181,257,809 (GRCm39) Y94H probably damaging Het
Rtn4 T C 11: 29,658,291 (GRCm39) I815T possibly damaging Het
Slc44a5 A G 3: 153,968,554 (GRCm39) T582A probably benign Het
Slitrk3 A G 3: 72,957,605 (GRCm39) L389S probably damaging Het
Srp54b T A 12: 55,299,560 (GRCm39) M297K probably benign Het
Zfp318 C T 17: 46,707,736 (GRCm39) R265* probably null Het
Zmym4 T A 4: 126,764,066 (GRCm39) I1325L probably damaging Het
Zswim2 C A 2: 83,753,982 (GRCm39) R226L probably damaging Het
Other mutations in Cdhr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00565:Cdhr2 APN 13 54,866,112 (GRCm39) missense probably damaging 1.00
IGL00596:Cdhr2 APN 13 54,868,810 (GRCm39) missense probably damaging 0.97
IGL00840:Cdhr2 APN 13 54,867,965 (GRCm39) missense probably damaging 0.96
IGL00956:Cdhr2 APN 13 54,866,156 (GRCm39) missense probably damaging 1.00
IGL01101:Cdhr2 APN 13 54,865,948 (GRCm39) splice site probably benign
IGL01150:Cdhr2 APN 13 54,878,931 (GRCm39) missense probably benign
IGL01412:Cdhr2 APN 13 54,873,707 (GRCm39) missense probably damaging 1.00
IGL01515:Cdhr2 APN 13 54,866,051 (GRCm39) missense probably benign 0.17
IGL02005:Cdhr2 APN 13 54,867,576 (GRCm39) missense probably benign 0.00
IGL02312:Cdhr2 APN 13 54,865,701 (GRCm39) missense probably null 0.97
IGL02877:Cdhr2 APN 13 54,882,550 (GRCm39) missense probably benign 0.39
IGL03072:Cdhr2 APN 13 54,874,474 (GRCm39) missense probably benign 0.00
IGL03263:Cdhr2 APN 13 54,865,926 (GRCm39) missense possibly damaging 0.75
FR4449:Cdhr2 UTSW 13 54,873,737 (GRCm39) small insertion probably benign
PIT4494001:Cdhr2 UTSW 13 54,866,255 (GRCm39) critical splice acceptor site probably null
PIT4498001:Cdhr2 UTSW 13 54,866,052 (GRCm39) missense possibly damaging 0.75
R0041:Cdhr2 UTSW 13 54,874,651 (GRCm39) missense probably damaging 1.00
R0149:Cdhr2 UTSW 13 54,881,820 (GRCm39) missense probably damaging 1.00
R0329:Cdhr2 UTSW 13 54,882,614 (GRCm39) unclassified probably benign
R0361:Cdhr2 UTSW 13 54,881,820 (GRCm39) missense probably damaging 1.00
R0365:Cdhr2 UTSW 13 54,866,105 (GRCm39) missense probably benign 0.00
R0598:Cdhr2 UTSW 13 54,874,552 (GRCm39) missense probably damaging 1.00
R0774:Cdhr2 UTSW 13 54,865,668 (GRCm39) missense probably damaging 1.00
R1330:Cdhr2 UTSW 13 54,882,081 (GRCm39) missense possibly damaging 0.67
R1458:Cdhr2 UTSW 13 54,865,685 (GRCm39) missense probably damaging 0.99
R1659:Cdhr2 UTSW 13 54,867,574 (GRCm39) missense probably damaging 1.00
R1698:Cdhr2 UTSW 13 54,867,394 (GRCm39) missense probably benign 0.00
R2061:Cdhr2 UTSW 13 54,868,631 (GRCm39) missense probably damaging 1.00
R2098:Cdhr2 UTSW 13 54,863,457 (GRCm39) missense probably benign 0.15
R2135:Cdhr2 UTSW 13 54,868,760 (GRCm39) missense probably damaging 1.00
R2365:Cdhr2 UTSW 13 54,865,901 (GRCm39) missense probably benign 0.01
R3693:Cdhr2 UTSW 13 54,874,229 (GRCm39) missense probably damaging 1.00
R3968:Cdhr2 UTSW 13 54,874,271 (GRCm39) missense probably damaging 1.00
R3970:Cdhr2 UTSW 13 54,874,271 (GRCm39) missense probably damaging 1.00
R4001:Cdhr2 UTSW 13 54,866,079 (GRCm39) missense probably benign 0.09
R4003:Cdhr2 UTSW 13 54,866,079 (GRCm39) missense probably benign 0.09
R4030:Cdhr2 UTSW 13 54,865,674 (GRCm39) missense probably damaging 1.00
R4088:Cdhr2 UTSW 13 54,865,701 (GRCm39) missense probably null 0.97
R4256:Cdhr2 UTSW 13 54,861,818 (GRCm39) missense probably damaging 0.99
R4322:Cdhr2 UTSW 13 54,881,534 (GRCm39) missense probably benign 0.00
R4396:Cdhr2 UTSW 13 54,863,478 (GRCm39) missense probably damaging 0.99
R4591:Cdhr2 UTSW 13 54,863,497 (GRCm39) missense probably benign 0.18
R4726:Cdhr2 UTSW 13 54,866,352 (GRCm39) missense probably damaging 0.99
R5370:Cdhr2 UTSW 13 54,868,700 (GRCm39) missense probably damaging 1.00
R5396:Cdhr2 UTSW 13 54,884,269 (GRCm39) missense probably benign
R5447:Cdhr2 UTSW 13 54,881,063 (GRCm39) missense probably damaging 1.00
R5654:Cdhr2 UTSW 13 54,884,349 (GRCm39) missense probably benign
R5727:Cdhr2 UTSW 13 54,872,121 (GRCm39) missense possibly damaging 0.95
R5771:Cdhr2 UTSW 13 54,874,508 (GRCm39) missense probably damaging 0.99
R5924:Cdhr2 UTSW 13 54,874,496 (GRCm39) missense probably benign 0.01
R5928:Cdhr2 UTSW 13 54,881,832 (GRCm39) missense probably benign 0.01
R6246:Cdhr2 UTSW 13 54,867,523 (GRCm39) missense probably damaging 1.00
R6351:Cdhr2 UTSW 13 54,874,589 (GRCm39) missense probably benign 0.16
R6358:Cdhr2 UTSW 13 54,884,359 (GRCm39) missense probably damaging 0.99
R6433:Cdhr2 UTSW 13 54,866,325 (GRCm39) missense probably damaging 0.97
R7044:Cdhr2 UTSW 13 54,881,134 (GRCm39) nonsense probably null
R7341:Cdhr2 UTSW 13 54,867,305 (GRCm39) missense probably damaging 0.99
R7462:Cdhr2 UTSW 13 54,874,552 (GRCm39) missense probably damaging 1.00
R7488:Cdhr2 UTSW 13 54,865,728 (GRCm39) missense probably benign 0.28
R7763:Cdhr2 UTSW 13 54,865,505 (GRCm39) missense probably damaging 1.00
R7771:Cdhr2 UTSW 13 54,866,088 (GRCm39) missense probably damaging 1.00
R8050:Cdhr2 UTSW 13 54,882,035 (GRCm39) missense probably damaging 0.96
R8069:Cdhr2 UTSW 13 54,878,883 (GRCm39) missense probably damaging 1.00
R8070:Cdhr2 UTSW 13 54,867,606 (GRCm39) missense probably benign 0.13
R8129:Cdhr2 UTSW 13 54,864,208 (GRCm39) splice site probably null
R8829:Cdhr2 UTSW 13 54,865,930 (GRCm39) missense probably damaging 1.00
R8915:Cdhr2 UTSW 13 54,874,184 (GRCm39) missense probably benign 0.31
R9050:Cdhr2 UTSW 13 54,883,133 (GRCm39) missense probably benign 0.19
R9113:Cdhr2 UTSW 13 54,882,700 (GRCm39) missense probably benign 0.22
R9205:Cdhr2 UTSW 13 54,861,801 (GRCm39) missense probably benign 0.45
R9281:Cdhr2 UTSW 13 54,881,703 (GRCm39) missense possibly damaging 0.78
R9290:Cdhr2 UTSW 13 54,882,009 (GRCm39) missense possibly damaging 0.93
R9621:Cdhr2 UTSW 13 54,866,350 (GRCm39) missense
R9647:Cdhr2 UTSW 13 54,867,394 (GRCm39) missense probably benign 0.00
R9697:Cdhr2 UTSW 13 54,867,679 (GRCm39) missense probably damaging 1.00
R9736:Cdhr2 UTSW 13 54,872,041 (GRCm39) missense possibly damaging 0.84
Z1177:Cdhr2 UTSW 13 54,874,221 (GRCm39) missense probably benign 0.00
Z1177:Cdhr2 UTSW 13 54,866,377 (GRCm39) missense probably damaging 1.00
Z1177:Cdhr2 UTSW 13 54,863,484 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16