Incidental Mutation 'R5396:Cdhr2'
ID 429700
Institutional Source Beutler Lab
Gene Symbol Cdhr2
Ensembl Gene ENSMUSG00000034918
Gene Name cadherin-related family member 2
Synonyms Pcdh24, LOC268663
MMRRC Submission 044394-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # R5396 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 54849276-54884475 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 54884269 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 1268 (D1268G)
Ref Sequence ENSEMBL: ENSMUSP00000043596 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037145] [ENSMUST00000099506] [ENSMUST00000135343]
AlphaFold E9Q7P9
Predicted Effect probably benign
Transcript: ENSMUST00000037145
AA Change: D1268G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000043596
Gene: ENSMUSG00000034918
AA Change: D1268G

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
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.5%
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810024B03Rik T C 2: 127,028,873 (GRCm39) T109A probably damaging Het
A430005L14Rik GCC G 4: 154,045,410 (GRCm39) probably null Het
Actr1a T C 19: 46,384,103 (GRCm39) D5G possibly damaging Het
Adra2c A G 5: 35,438,217 (GRCm39) T330A probably benign Het
Ahcyl2 C T 6: 29,859,697 (GRCm39) probably benign Het
Ahnak T C 19: 8,984,539 (GRCm39) V1941A probably damaging Het
Akr1b7 G A 6: 34,389,411 (GRCm39) probably null Het
Anapc15 C T 7: 101,547,810 (GRCm39) P68L probably damaging Het
Ank2 A G 3: 126,746,875 (GRCm39) V570A probably damaging Het
Ano4 T C 10: 88,948,702 (GRCm39) E302G probably damaging Het
Bop1 A T 15: 76,339,489 (GRCm39) H285Q probably damaging Het
Btbd19 G A 4: 116,980,957 (GRCm39) A104V probably damaging Het
Catsperb A T 12: 101,560,543 (GRCm39) I845L possibly damaging Het
Ccdc28b G T 4: 129,513,238 (GRCm39) Q184K probably damaging Het
Cd101 A G 3: 100,926,126 (GRCm39) S198P probably damaging Het
Cdc7 A T 5: 107,117,163 (GRCm39) probably null Het
Celsr3 C T 9: 108,705,781 (GRCm39) R755W probably damaging Het
Chrnb1 T A 11: 69,684,979 (GRCm39) N117I probably damaging Het
Chst11 C A 10: 83,027,083 (GRCm39) P170Q probably damaging Het
Clca3b A G 3: 144,552,932 (GRCm39) Y98H probably damaging Het
Crnkl1 A G 2: 145,770,132 (GRCm39) V237A possibly damaging Het
Ctnnbl1 G A 2: 157,659,752 (GRCm39) probably null Het
Dbndd1 C A 8: 124,236,582 (GRCm39) R95S probably damaging Het
Ddx3y A G Y: 1,265,965 (GRCm39) V344A probably damaging Het
Defb30 A T 14: 63,273,559 (GRCm39) probably null Het
Dennd10 T C 19: 60,823,274 (GRCm39) L303P probably benign Het
Dnah17 C T 11: 118,018,108 (GRCm39) R129Q probably benign Het
Dnhd1 A T 7: 105,362,891 (GRCm39) M3818L probably benign Het
Dusp4 G T 8: 35,284,458 (GRCm39) D258Y probably damaging Het
E2f1 A T 2: 154,406,368 (GRCm39) F103I probably benign Het
Elavl2 T C 4: 91,149,055 (GRCm39) Y248C probably damaging Het
Ephb3 T C 16: 21,037,855 (GRCm39) V310A possibly damaging Het
Erbin A G 13: 103,993,917 (GRCm39) probably null Het
Etv4 A T 11: 101,666,167 (GRCm39) H120Q probably damaging Het
Fcgbpl1 T C 7: 27,839,608 (GRCm39) F474L probably benign Het
Flot2 T A 11: 77,940,314 (GRCm39) C20* probably null Het
Fsip2 G A 2: 82,821,262 (GRCm39) G5665D probably benign Het
Gad1-ps G A 10: 99,281,009 (GRCm39) noncoding transcript Het
Glrp1 TTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGTTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGTTGGTGCTGCTGGTGCTGCTG TTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGTTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGTTGGTGCTGCTGGTGCTGCTG 1: 88,431,066 (GRCm39) probably benign Het
Gm43302 A T 5: 105,427,955 (GRCm39) L202* probably null Het
Gm4787 G C 12: 81,424,604 (GRCm39) T518S probably benign Het
Hnf1b A T 11: 83,746,863 (GRCm39) M160L probably damaging Het
Inhbe T C 10: 127,186,470 (GRCm39) T237A possibly damaging Het
Kdm5b G A 1: 134,549,836 (GRCm39) probably null Het
Kmt2c A T 5: 25,499,732 (GRCm39) probably null Het
Kyat3 A G 3: 142,440,367 (GRCm39) K364E probably benign Het
Lars1 T A 18: 42,350,024 (GRCm39) T927S probably benign Het
Mfap1b A T 2: 121,304,371 (GRCm39) M8K probably benign Het
Mroh8 G A 2: 157,070,576 (GRCm39) P592S possibly damaging Het
Myo3b A T 2: 69,957,329 (GRCm39) I185L probably damaging Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or1x6 C T 11: 50,939,297 (GRCm39) A121V probably damaging Het
Or4c110 A T 2: 88,832,540 (GRCm39) L31M probably benign Het
Or51a24 T C 7: 103,734,098 (GRCm39) Y63C probably benign Het
Pcdha8 T A 18: 37,126,787 (GRCm39) V423E probably damaging Het
Pcdhb21 G T 18: 37,648,772 (GRCm39) V634L probably benign Het
Pde8a T C 7: 80,983,170 (GRCm39) V791A probably damaging Het
Pds5a A G 5: 65,795,920 (GRCm39) S657P probably benign Het
Pes1 CGGAGGAGGAGGAGGAGGAGGAGG CGGAGGAGGAGGAGGAGGAGG 11: 3,927,719 (GRCm39) probably benign Het
Rad51d A G 11: 82,781,196 (GRCm39) V17A possibly damaging Het
Sdc1 A T 12: 8,841,743 (GRCm39) probably null Het
Sdcbp2 T A 2: 151,429,057 (GRCm39) I152N probably damaging Het
Slc4a4 G T 5: 89,194,076 (GRCm39) M141I probably benign Het
Sntb1 C G 15: 55,506,191 (GRCm39) G461R probably damaging Het
Spata6 T C 4: 111,656,315 (GRCm39) C320R probably damaging Het
Spata6l T C 19: 28,905,089 (GRCm39) H325R possibly damaging Het
Ssu2 T A 6: 112,357,957 (GRCm39) T129S probably damaging Het
Stat5a T A 11: 100,771,409 (GRCm39) W631R probably damaging Het
Sult1c2 T A 17: 54,143,939 (GRCm39) N122I possibly damaging Het
Synpo2 G A 3: 122,911,331 (GRCm39) Q105* probably null Het
Tert G A 13: 73,787,362 (GRCm39) V783I probably damaging Het
Ticam1 G T 17: 56,578,117 (GRCm39) T326K probably benign Het
Tmem63b T C 17: 45,980,888 (GRCm39) M269V possibly damaging Het
Tmem86a T A 7: 46,702,794 (GRCm39) V73E possibly damaging Het
Trpv4 G A 5: 114,761,675 (GRCm39) R818C possibly damaging Het
Tstd2 A G 4: 46,135,542 (GRCm39) S4P probably benign Het
Ttn A T 2: 76,644,715 (GRCm39) V4686E probably damaging Het
Ubash3b A G 9: 40,954,769 (GRCm39) probably null Het
Usp31 A G 7: 121,267,005 (GRCm39) probably null Het
Usp33 A G 3: 152,089,824 (GRCm39) E780G possibly damaging Het
Vapb T A 2: 173,613,336 (GRCm39) Y78* probably null Het
Vps13b G A 15: 35,887,094 (GRCm39) R3227Q probably damaging Het
Vps33a A T 5: 123,696,693 (GRCm39) I320N probably damaging Het
Wnt5a T C 14: 28,244,727 (GRCm39) C305R probably damaging Het
Zbtb38 A G 9: 96,569,696 (GRCm39) C463R probably damaging Het
Zc3h12d G A 10: 7,742,090 (GRCm39) C263Y probably damaging Het
Zfp971 G A 2: 177,675,526 (GRCm39) R375Q probably damaging Het
Znrf1 T A 8: 112,345,826 (GRCm39) probably null 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
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
Predicted Primers PCR Primer
(F):5'- ATGCCAGAACACTGCTCTG -3'
(R):5'- AGGGCAGACAGTACGGTTTG -3'

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