Incidental Mutation 'R5447:Cdhr2'
ID 429151
Institutional Source Beutler Lab
Gene Symbol Cdhr2
Ensembl Gene ENSMUSG00000034918
Gene Name cadherin-related family member 2
Synonyms Pcdh24, LOC268663
MMRRC Submission 043012-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # R5447 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 54849276-54884475 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 54881063 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 1042 (D1042G)
Ref Sequence ENSEMBL: ENSMUSP00000043596 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037145] [ENSMUST00000099506] [ENSMUST00000135343]
AlphaFold E9Q7P9
Predicted Effect probably damaging
Transcript: ENSMUST00000037145
AA Change: D1042G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000043596
Gene: ENSMUSG00000034918
AA Change: D1042G

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
Meta Mutation Damage Score 0.6180 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 97% (71/73)
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 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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 T C 12: 118,891,061 (GRCm39) I479V probably damaging Het
Adam30 A G 3: 98,068,659 (GRCm39) D164G probably benign Het
Adgrl3 T A 5: 81,613,188 (GRCm39) probably benign Het
Adrb1 T C 19: 56,711,519 (GRCm39) I239T probably benign Het
Albfm1 C A 5: 90,732,169 (GRCm39) A458E probably damaging Het
B4galnt3 T C 6: 120,192,018 (GRCm39) T572A probably benign Het
Baz2b T C 2: 59,744,332 (GRCm39) E1391G probably damaging Het
BC016579 A G 16: 45,469,252 (GRCm39) V72A probably benign Het
Btnl10 A T 11: 58,813,144 (GRCm39) I258F probably benign Het
Cdh5 A T 8: 104,855,994 (GRCm39) D309V probably damaging Het
Clk2 G T 3: 89,074,498 (GRCm39) V53F possibly damaging Het
Cyfip2 T C 11: 46,182,413 (GRCm39) D15G possibly damaging Het
Dip2b C T 15: 100,109,867 (GRCm39) R1451C probably damaging Het
Dmbt1 A G 7: 130,721,240 (GRCm39) Y1836C probably damaging Het
Dysf T C 6: 84,172,245 (GRCm39) F1905L probably damaging Het
E130114P18Rik A G 4: 97,578,955 (GRCm39) S7P unknown Het
Fam110a T C 2: 151,812,629 (GRCm39) E47G probably damaging Het
Gemin6 T G 17: 80,535,178 (GRCm39) V46G probably damaging Het
Helb T A 10: 119,938,806 (GRCm39) D556V possibly damaging Het
Hoxd4 A G 2: 74,557,687 (GRCm39) E22G probably damaging Het
Hsd17b8 A T 17: 34,245,886 (GRCm39) V202D probably damaging Het
Il1rl2 T G 1: 40,368,316 (GRCm39) I162R probably damaging Het
Lhfpl5 A G 17: 28,795,071 (GRCm39) T33A probably damaging Het
Mapk8ip3 G A 17: 25,118,163 (GRCm39) A1283V probably benign Het
Mettl13 A G 1: 162,363,449 (GRCm39) V227A probably benign Het
Mmgt2 T A 11: 62,555,824 (GRCm39) C57* probably null Het
Muc4 G C 16: 32,753,919 (GRCm38) R1265P probably benign Het
Mylk2 T C 2: 152,754,430 (GRCm39) S175P probably damaging Het
Neu4 C T 1: 93,950,140 (GRCm39) T33M probably damaging Het
Nfs1 C T 2: 155,984,056 (GRCm39) R107H probably benign Het
Nfxl1 C T 5: 72,686,512 (GRCm39) R563Q probably benign Het
Nid1 A G 13: 13,612,495 (GRCm39) D70G probably benign Het
Nup160 C A 2: 90,555,959 (GRCm39) Q1220K possibly damaging Het
Or1ad8 G A 11: 50,898,170 (GRCm39) V124M possibly damaging Het
Or1e22 A G 11: 73,377,002 (GRCm39) V216A probably benign Het
Or52s6 A C 7: 103,092,147 (GRCm39) M61R probably damaging Het
Or5k8 A T 16: 58,644,846 (GRCm39) C75* probably null Het
Pdgfrb T A 18: 61,201,180 (GRCm39) V422E probably damaging Het
Pear1 G A 3: 87,666,449 (GRCm39) R85C probably damaging Het
Pkhd1 T A 1: 20,309,609 (GRCm39) M2780L probably benign Het
Ppp4r4 T C 12: 103,550,410 (GRCm39) V62A possibly damaging Het
Prol1 C T 5: 88,476,125 (GRCm39) P172S unknown Het
Proz A G 8: 13,122,578 (GRCm39) I231V probably benign Het
Ptch1 T G 13: 63,675,059 (GRCm39) M718L probably benign Het
Ptprs A G 17: 56,736,128 (GRCm39) C102R possibly damaging Het
Robo2 A T 16: 73,770,654 (GRCm39) Y490* probably null Het
Rptor G A 11: 119,734,539 (GRCm39) G514D probably damaging Het
Scara5 CG C 14: 65,997,111 (GRCm39) probably null Het
Skint6 T A 4: 112,963,106 (GRCm39) S442C probably benign Het
Snw1 T C 12: 87,502,485 (GRCm39) E303G probably benign Het
Sp110 C G 1: 85,516,839 (GRCm39) E219D probably damaging Het
Stam2 G A 2: 52,626,305 (GRCm39) probably benign Het
Stk10 C T 11: 32,554,166 (GRCm39) Q618* probably null Het
Tmc3 A T 7: 83,271,569 (GRCm39) E907V possibly damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Ttn T A 2: 76,729,451 (GRCm39) probably benign Het
Vps39 T C 2: 120,183,413 (GRCm39) D19G probably benign Het
Zan T C 5: 137,470,453 (GRCm39) S229G probably damaging Het
Zfp141 A T 7: 42,124,983 (GRCm39) C496* probably null Het
Zgrf1 T C 3: 127,356,768 (GRCm39) S665P possibly 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
IGL02187:Cdhr2 APN 13 54,881,523 (GRCm39) missense possibly damaging 0.86
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
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
Predicted Primers PCR Primer
(F):5'- GGCCTCTTTAAAGTAAGATGGGG -3'
(R):5'- TTGGGGTACAGACACAGGAC -3'

Sequencing Primer
(F):5'- AGTGTGGAAGAGCCTGTGC -3'
(R):5'- TACAGACACAGGACCAAAGGTG -3'
Posted On 2016-09-06