Incidental Mutation 'R8050:Cdhr2'
ID 619019
Institutional Source Beutler Lab
Gene Symbol Cdhr2
Ensembl Gene ENSMUSG00000034918
Gene Name cadherin-related family member 2
Synonyms Pcdh24, LOC268663
MMRRC Submission 067487-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # R8050 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 54849276-54884475 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 54882035 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 1162 (V1162M)
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: V1162M

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000043596
Gene: ENSMUSG00000034918
AA Change: V1162M

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410002F23Rik T A 7: 43,900,677 (GRCm39) V194E possibly damaging Het
Adgrv1 T C 13: 81,561,296 (GRCm39) N5406S probably damaging Het
Arhgef38 T A 3: 132,843,323 (GRCm39) R416* probably null Het
Asb7 T A 7: 66,328,932 (GRCm39) Q36L probably benign Het
Bbof1 G A 12: 84,457,991 (GRCm39) M85I probably benign Het
Bin1 T G 18: 32,539,198 (GRCm39) F44V probably damaging Het
Bnc2 C A 4: 84,210,573 (GRCm39) V599L probably benign Het
Bnip3l A G 14: 67,226,651 (GRCm39) S181P probably damaging Het
Btnl9 A G 11: 49,066,442 (GRCm39) L374P probably benign Het
Cd109 T C 9: 78,571,633 (GRCm39) I424T probably benign Het
Dgkb G A 12: 38,174,216 (GRCm39) E181K probably benign Het
Dnase1 A T 16: 3,855,861 (GRCm39) D64V probably damaging Het
E130308A19Rik T C 4: 59,719,767 (GRCm39) I433T probably damaging Het
Ecsit C T 9: 21,987,592 (GRCm39) R149H probably benign Het
Eif1ad8 G A 12: 87,563,911 (GRCm39) R82Q possibly damaging Het
Enpep A T 3: 129,099,165 (GRCm39) V437E probably damaging Het
Esrp1 A T 4: 11,338,767 (GRCm39) V679D probably damaging Het
Fa2h T A 8: 112,074,817 (GRCm39) probably null Het
Fabp1 G A 6: 71,176,956 (GRCm39) E16K probably damaging Het
Fstl5 T A 3: 76,614,810 (GRCm39) S624T probably benign Het
Gemin5 G A 11: 58,019,686 (GRCm39) R1128W probably benign Het
H2bc8 T C 13: 23,755,841 (GRCm39) S79P probably damaging Het
Hps3 T C 3: 20,057,492 (GRCm39) H896R probably benign Het
Hsf1 T A 15: 76,382,481 (GRCm39) I284K probably benign Het
Igkv3-2 T A 6: 70,675,988 (GRCm39) I99N probably damaging Het
Iqub T A 6: 24,503,784 (GRCm39) I163F possibly damaging Het
Jak2 T C 19: 29,275,732 (GRCm39) I724T probably damaging Het
Kbtbd3 A T 9: 4,330,408 (GRCm39) T261S probably benign Het
Kctd20 G T 17: 29,171,732 (GRCm39) probably null Het
Kif28 C T 1: 179,537,014 (GRCm39) V490M probably benign Het
Kif9 T C 9: 110,348,208 (GRCm39) L677P probably damaging Het
Klhl18 T C 9: 110,257,829 (GRCm39) Y537C probably damaging Het
Mmut T A 17: 41,254,784 (GRCm39) I331K probably benign Het
Myo5a T A 9: 75,089,228 (GRCm39) S1119R probably damaging Het
Napepld C A 5: 21,870,319 (GRCm39) E366D probably benign Het
Nbea A G 3: 55,895,402 (GRCm39) V1540A probably damaging Het
Neb T A 2: 52,111,738 (GRCm39) I130L probably benign Het
Opcml T C 9: 28,724,640 (GRCm39) V146A probably damaging Het
Or2g7 T C 17: 38,378,370 (GRCm39) S103P probably damaging Het
Or2r11 A T 6: 42,437,764 (GRCm39) L63H probably damaging Het
Or7e178 C T 9: 20,225,941 (GRCm39) D92N probably damaging Het
Pappa2 A C 1: 158,675,970 (GRCm39) C925W probably damaging Het
Parp12 T A 6: 39,066,038 (GRCm39) N562Y probably damaging Het
Patj C A 4: 98,427,201 (GRCm39) H1198Q probably benign Het
Pcyox1 T A 6: 86,366,128 (GRCm39) K362M possibly damaging Het
Pcyt2 T C 11: 120,501,765 (GRCm39) Y350C probably benign Het
Pkd1 A T 17: 24,784,617 (GRCm39) T388S probably benign Het
Prl3d1 T A 13: 27,284,011 (GRCm39) Y193* probably null Het
Psme1 A T 14: 55,817,056 (GRCm39) D15V possibly damaging Het
Qrsl1 G A 10: 43,750,631 (GRCm39) R476C probably damaging Het
Ranbp2 A G 10: 58,315,441 (GRCm39) N2054D probably damaging Het
Serpinb1c T A 13: 33,066,052 (GRCm39) K298* probably null Het
Slc22a27 A T 19: 7,857,532 (GRCm39) M355K probably benign Het
Spp1 T A 5: 104,588,280 (GRCm39) H227Q probably benign Het
Stam2 T A 2: 52,609,785 (GRCm39) N75I probably damaging Het
Tacc1 T C 8: 25,659,230 (GRCm39) T579A probably benign Het
Tbx3 A G 5: 119,821,132 (GRCm39) D734G probably benign Het
Tmem233 G T 5: 116,221,141 (GRCm39) S35* probably null Het
Trim43c A T 9: 88,722,390 (GRCm39) E12V probably damaging Het
Trio A G 15: 27,891,540 (GRCm39) S463P unknown Het
Uggt2 A T 14: 119,263,834 (GRCm39) D1065E probably damaging Het
Usp1 A G 4: 98,817,150 (GRCm39) N114S probably benign Het
Usp34 A G 11: 23,396,787 (GRCm39) E2377G Het
Virma T A 4: 11,528,643 (GRCm39) H1243Q probably benign Het
Vmn2r3 A T 3: 64,178,714 (GRCm39) V517D probably damaging Het
Zfp931 T C 2: 177,709,889 (GRCm39) K166E probably damaging Het
Zp3 T A 5: 136,011,604 (GRCm39) Y141N 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
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'- CAGGATGATCCGGAAAGACC -3'
(R):5'- AAGACCATTCTGCCAGTGAG -3'

Sequencing Primer
(F):5'- ATGCACTGAGGCAGCTG -3'
(R):5'- ATTCTGCCAGTGAGGGGGTG -3'
Posted On 2020-01-23