Incidental Mutation 'R9697:Cdhr2'
ID 729388
Institutional Source Beutler Lab
Gene Symbol Cdhr2
Ensembl Gene ENSMUSG00000034918
Gene Name cadherin-related family member 2
Synonyms Pcdh24, LOC268663
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # R9697 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 54849276-54884475 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 54867679 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 503 (I503T)
Ref Sequence ENSEMBL: ENSMUSP00000043596 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037145]
AlphaFold E9Q7P9
Predicted Effect probably damaging
Transcript: ENSMUST00000037145
AA Change: I503T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000043596
Gene: ENSMUSG00000034918
AA Change: I503T

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.0%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600012H06Rik C T 17: 15,163,769 (GRCm39) probably benign Het
9330182O14Rik C T 15: 40,005,500 (GRCm39) probably benign Het
Adamts19 C A 18: 59,101,834 (GRCm39) P635T probably damaging Het
Adgrf1 T C 17: 43,625,362 (GRCm39) W857R possibly damaging Het
Ak9 T G 10: 41,298,968 (GRCm39) Y1556* probably null Het
Ang2 T C 14: 51,433,326 (GRCm39) I19V probably benign Het
Ano3 T A 2: 110,496,253 (GRCm39) T834S probably damaging Het
As3mt A T 19: 46,708,420 (GRCm39) I236F probably benign Het
Asns A T 6: 7,689,268 (GRCm39) I78N probably damaging Het
Bet1 G A 6: 4,082,471 (GRCm39) T44M probably damaging Het
Cabyr T C 18: 12,884,407 (GRCm39) V298A possibly damaging Het
Cacna1c A G 6: 118,589,598 (GRCm39) V1601A Het
Ccni A T 5: 93,350,201 (GRCm39) M26K probably damaging Het
Cfap54 T C 10: 92,792,851 (GRCm39) K1754R unknown Het
Cfap69 A G 5: 5,676,041 (GRCm39) V218A possibly damaging Het
Clcn3 A G 8: 61,372,518 (GRCm39) L741P probably damaging Het
Cntnap1 T C 11: 101,068,828 (GRCm39) F124L possibly damaging Het
Col20a1 G A 2: 180,641,577 (GRCm39) G673D probably benign Het
Col4a2 A G 8: 11,487,628 (GRCm39) I977V probably benign Het
Cyp3a59 A T 5: 146,031,190 (GRCm39) I118F probably damaging Het
Dgcr8 A T 16: 18,098,283 (GRCm39) D369E probably benign Het
Dhtkd1 T C 2: 5,919,651 (GRCm39) T577A probably benign Het
Dock2 A T 11: 34,204,417 (GRCm39) M1375K probably benign Het
Fa2h G A 8: 112,074,659 (GRCm39) H315Y probably damaging Het
Foxd2 G A 4: 114,765,684 (GRCm39) P112L unknown Het
Gin1 A G 1: 97,712,897 (GRCm39) I317V probably benign Het
Gpr180 G A 14: 118,391,302 (GRCm39) G235R probably damaging Het
H2-T3 T A 17: 36,500,744 (GRCm39) Y33F probably damaging Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Il12rb1 G A 8: 71,263,874 (GRCm39) W145* probably null Het
Il6ra A G 3: 89,785,219 (GRCm39) V330A probably benign Het
Impdh2 T C 9: 108,438,847 (GRCm39) S67P possibly damaging Het
Ltbp3 T A 19: 5,792,521 (GRCm39) S85T probably benign Het
Magi3 A G 3: 103,956,458 (GRCm39) probably null Het
Mettl4 T A 17: 95,034,806 (GRCm39) I430F probably damaging Het
Mmd T A 11: 90,167,579 (GRCm39) F203I probably damaging Het
Nlgn1 T C 3: 25,494,035 (GRCm39) T305A possibly damaging Het
Ntn1 A G 11: 68,168,356 (GRCm39) V367A probably damaging Het
Or2w1b A T 13: 21,299,892 (GRCm39) H10L probably benign Het
Or5b107 G A 19: 13,142,888 (GRCm39) C170Y possibly damaging Het
Pcdh12 T C 18: 38,415,022 (GRCm39) H701R possibly damaging Het
Pcgf3 G A 5: 108,621,773 (GRCm39) probably null Het
Pik3c2g G A 6: 139,913,517 (GRCm39) V972M unknown Het
Pink1 A G 4: 138,041,323 (GRCm39) C563R possibly damaging Het
Prol1 A T 5: 88,466,426 (GRCm39) N3I probably benign Het
Ptpro T G 6: 137,363,288 (GRCm39) I474S probably damaging Het
Rabgef1 A G 5: 130,241,781 (GRCm39) E395G probably benign Het
Rpgrip1l G T 8: 91,987,391 (GRCm39) H889N possibly damaging Het
Sapcd2 T A 2: 25,262,925 (GRCm39) C161* probably null Het
Sbsn GAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCA GAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCA 7: 30,452,391 (GRCm39) probably benign Het
Spen A G 4: 141,196,275 (GRCm39) L3625P probably damaging Het
Stil T C 4: 114,878,701 (GRCm39) I379T probably benign Het
Stim1 A G 7: 102,078,014 (GRCm39) D172G Het
Timm50 A G 7: 28,010,350 (GRCm39) L68P probably damaging Het
Tlr9 C T 9: 106,100,723 (GRCm39) R5* probably null Het
Top1mt A T 15: 75,547,874 (GRCm39) Y71N probably damaging Het
Trpv4 A G 5: 114,771,285 (GRCm39) Y415H possibly damaging Het
Try10 C T 6: 41,331,041 (GRCm39) probably benign Het
Uhrf2 A G 19: 30,063,780 (GRCm39) E581G probably damaging Het
Usp17lb G A 7: 104,490,495 (GRCm39) T144I possibly damaging Het
Vmn1r64 T C 7: 5,886,859 (GRCm39) N228S probably benign Het
Vwa1 G A 4: 155,857,336 (GRCm39) P154L 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
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
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
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'- TGTACCCTGTACCGATGCATG -3'
(R):5'- ACCCATCTGACACAGTTGCTG -3'

Sequencing Primer
(F):5'- GTACCGATGCATGCTCTTCTG -3'
(R):5'- TGTGCATCCTGGCTCCAAAG -3'
Posted On 2022-10-06