Incidental Mutation 'R6736:Cdhr5'
ID 528423
Institutional Source Beutler Lab
Gene Symbol Cdhr5
Ensembl Gene ENSMUSG00000025497
Gene Name cadherin-related family member 5
Synonyms Mupcdh, Mucdhl, 1810074H01Rik
MMRRC Submission 044854-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R6736 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 140848996-140856699 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 140852444 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 141 (Q141K)
Ref Sequence ENSEMBL: ENSMUSP00000148123 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080654] [ENSMUST00000167263] [ENSMUST00000210124] [ENSMUST00000210773]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000080654
AA Change: Q391K

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000079484
Gene: ENSMUSG00000025497
AA Change: Q391K

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
CA 53 125 3.78e-2 SMART
CA 152 238 2.34e-1 SMART
Blast:CA 277 355 3e-35 BLAST
Blast:CA 388 458 3e-24 BLAST
transmembrane domain 478 500 N/A INTRINSIC
low complexity region 546 580 N/A INTRINSIC
low complexity region 634 653 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000167263
AA Change: Q391K

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000127292
Gene: ENSMUSG00000025497
AA Change: Q391K

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
CA 53 125 3.78e-2 SMART
CA 152 238 2.34e-1 SMART
Blast:CA 277 355 3e-35 BLAST
Blast:CA 388 458 1e-24 BLAST
low complexity region 462 476 N/A INTRINSIC
low complexity region 496 518 N/A INTRINSIC
low complexity region 520 544 N/A INTRINSIC
low complexity region 559 576 N/A INTRINSIC
transmembrane domain 640 662 N/A INTRINSIC
low complexity region 708 742 N/A INTRINSIC
low complexity region 796 815 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000210124
AA Change: Q141K

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210386
Predicted Effect possibly damaging
Transcript: ENSMUST00000210773
AA Change: Q66K

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a novel mucin-like gene that is a member of the cadherin superfamily. While encoding nonpolymorphic tandem repeats rich in proline, serine and threonine similar to mucin proteins, the gene also contains sequence encoding calcium-binding motifs found in all cadherins. The role of the hybrid extracellular region and the specific function of this protein have not yet been determined. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jan 2010]
Allele List at MGI
Other mutations in this stock
Total: 102 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik T C 17: 9,211,100 (GRCm39) I83T probably benign Het
Aadacl4 T G 4: 144,349,909 (GRCm39) S389A possibly damaging Het
Abca13 A T 11: 9,415,058 (GRCm39) S4042C probably damaging Het
Acaca G A 11: 84,129,664 (GRCm39) V340I probably benign Het
Acox3 T A 5: 35,746,198 (GRCm39) probably null Het
Acsl6 A C 11: 54,215,992 (GRCm39) E124A probably damaging Het
Adamtsl1 T A 4: 86,260,484 (GRCm39) H898Q probably damaging Het
Agl A G 3: 116,575,329 (GRCm39) S603P probably damaging Het
Apobec1 A T 6: 122,558,634 (GRCm39) M31K probably null Het
Astn1 T C 1: 158,338,718 (GRCm39) probably null Het
Atp8a1 G T 5: 67,824,960 (GRCm39) D790E probably damaging Het
Bahd1 T G 2: 118,746,456 (GRCm39) M25R possibly damaging Het
BC034090 A T 1: 155,117,676 (GRCm39) N147K possibly damaging Het
Bfsp2 G T 9: 103,357,403 (GRCm39) A8E possibly damaging Het
Brwd1 A T 16: 95,869,772 (GRCm39) I85N probably damaging Het
Catspere2 T A 1: 177,845,278 (GRCm39) Y99* probably null Het
Ccdc24 T A 4: 117,727,732 (GRCm39) N145I possibly damaging Het
Cfap46 A G 7: 139,199,887 (GRCm39) V1998A possibly damaging Het
Csmd1 T A 8: 16,052,626 (GRCm39) Y2166F probably damaging Het
Cul4a T G 8: 13,186,219 (GRCm39) S474A probably benign Het
Cutal A G 2: 34,778,149 (GRCm39) T112A probably benign Het
Dcaf6 A C 1: 165,227,354 (GRCm39) S258A possibly damaging Het
Dek C T 13: 47,252,866 (GRCm39) V180M probably damaging Het
Dspp C A 5: 104,326,041 (GRCm39) D801E unknown Het
Egflam T C 15: 7,249,206 (GRCm39) T871A probably damaging Het
Erbin A T 13: 103,971,274 (GRCm39) S781T possibly damaging Het
Erich6 A T 3: 58,532,475 (GRCm39) H377Q probably damaging Het
Exo5 C A 4: 120,778,953 (GRCm39) G304V probably damaging Het
Eya2 C A 2: 165,557,957 (GRCm39) S184R possibly damaging Het
Fhod1 G A 8: 106,064,522 (GRCm39) probably benign Het
G6pc3 A G 11: 102,084,496 (GRCm39) Y302C possibly damaging Het
Gart T C 16: 91,432,995 (GRCm39) D318G probably benign Het
Gm10300 T C 4: 131,802,246 (GRCm39) probably benign Het
Gm11937 A G 11: 99,500,900 (GRCm39) V39A probably damaging Het
Gnas T C 2: 174,176,044 (GRCm39) M60T probably damaging Het
Grk5 G T 19: 60,879,064 (GRCm39) R16L probably damaging Het
Hcn3 A G 3: 89,059,981 (GRCm39) L221P probably damaging Het
Hddc3 G A 7: 79,992,944 (GRCm39) R20Q possibly damaging Het
Hectd4 T C 5: 121,415,788 (GRCm39) Y530H possibly damaging Het
Igf2bp1 A T 11: 95,863,948 (GRCm39) H247Q probably benign Het
Igkv4-70 T A 6: 69,244,912 (GRCm39) D103V probably damaging Het
Itpr2 T A 6: 146,226,668 (GRCm39) M1359L probably damaging Het
Kalrn A G 16: 34,038,293 (GRCm39) L1013S probably damaging Het
Kctd21 C T 7: 96,997,291 (GRCm39) R255W probably damaging Het
Krt18 T A 15: 101,939,204 (GRCm39) Y263N probably benign Het
Lamp5 C G 2: 135,901,483 (GRCm39) N102K possibly damaging Het
Larp1 G A 11: 57,933,473 (GRCm39) probably null Het
Lmnb1 A G 18: 56,861,541 (GRCm39) N144S probably damaging Het
Lrp2 T A 2: 69,278,555 (GRCm39) T3933S probably benign Het
Lrrc34 T C 3: 30,679,008 (GRCm39) N363S probably benign Het
Lrriq1 T C 10: 103,017,750 (GRCm39) probably null Het
Mafa C A 15: 75,619,629 (GRCm39) G48V unknown Het
Mboat4 T C 8: 34,591,675 (GRCm39) S371P possibly damaging Het
Mei4 A T 9: 81,907,677 (GRCm39) M237L probably benign Het
Mfsd2a T C 4: 122,845,054 (GRCm39) D219G probably benign Het
Msl2 A G 9: 100,978,201 (GRCm39) N192D probably damaging Het
Mycbp2 C A 14: 103,429,003 (GRCm39) R2358M probably null Het
Myh10 A G 11: 68,636,165 (GRCm39) T185A probably damaging Het
Nipsnap2 T C 5: 129,822,352 (GRCm39) probably null Het
Notch1 T C 2: 26,350,298 (GRCm39) T2281A probably benign Het
Odad2 C A 18: 7,223,586 (GRCm39) V486F probably damaging Het
Or12j4 T C 7: 140,046,800 (GRCm39) S229P probably damaging Het
Or12j4 G T 7: 140,046,834 (GRCm39) C240F probably damaging Het
Or1e1c G T 11: 73,266,402 (GRCm39) V276F probably benign Het
Or4q3 A T 14: 50,582,905 (GRCm39) N300K probably damaging Het
Or5an10 G A 19: 12,275,936 (GRCm39) Q187* probably null Het
Or5d20-ps1 C A 2: 87,931,947 (GRCm39) C128F probably benign Het
Or8c17 T A 9: 38,179,866 (GRCm39) I19N probably damaging Het
Or8g30 A G 9: 39,230,089 (GRCm39) S274P probably damaging Het
Oxct1 T A 15: 4,121,899 (GRCm39) S283T probably benign Het
Pcnx2 G T 8: 126,479,056 (GRCm39) probably null Het
Piwil4 A G 9: 14,627,119 (GRCm39) F424L probably benign Het
Pkhd1l1 T C 15: 44,421,336 (GRCm39) S3035P probably damaging Het
Psmc2 T A 5: 22,005,574 (GRCm39) D218E probably damaging Het
Ptpn7 C T 1: 135,066,974 (GRCm39) P277L probably benign Het
Rgs12 A G 5: 35,180,436 (GRCm39) K27E probably damaging Het
Rp1l1 G T 14: 64,267,173 (GRCm39) A920S possibly damaging Het
Rsbn1l A T 5: 21,113,222 (GRCm39) H433Q probably benign Het
Safb C A 17: 56,913,023 (GRCm39) P913Q possibly damaging Het
Sema7a G A 9: 57,867,854 (GRCm39) V477M probably damaging Het
Serpina16 T A 12: 103,635,191 (GRCm39) T408S possibly damaging Het
Six5 G A 7: 18,828,916 (GRCm39) V119M possibly damaging Het
Slc6a16 C T 7: 44,908,452 (GRCm39) P11S possibly damaging Het
Smg1 A G 7: 117,756,389 (GRCm39) probably benign Het
Sntg1 T A 1: 8,515,274 (GRCm39) I420F probably benign Het
Sptb T C 12: 76,659,954 (GRCm39) D982G possibly damaging Het
Stag3 T A 5: 138,299,761 (GRCm39) F891I probably damaging Het
Sugp1 A G 8: 70,511,953 (GRCm39) E183G probably benign Het
Taf1d T C 9: 15,219,119 (GRCm39) probably null Het
Tapbp T C 17: 34,138,931 (GRCm39) S33P possibly damaging Het
Ubap2 CT CTTGCCCCGGT 4: 41,227,224 (GRCm39) probably benign Het
Ubap2 GCCCGCTTGCCCCGCT GCCCGCTTGCCCCGCTTGCCCCGCT 4: 41,227,210 (GRCm39) probably benign Het
Ubash3a A G 17: 31,450,389 (GRCm39) T355A probably benign Het
Usp16 T G 16: 87,267,285 (GRCm39) V225G probably damaging Het
Utrn A G 10: 12,497,047 (GRCm39) V2454A probably benign Het
Vmn1r191 G T 13: 22,363,720 (GRCm39) F11L probably benign Het
Vmn2r117 A T 17: 23,697,282 (GRCm39) C137S probably damaging Het
Zfp1002 T A 2: 150,097,198 (GRCm39) Y77F possibly damaging Het
Zfp143 T C 7: 109,691,021 (GRCm39) M524T probably damaging Het
Zfp599 A G 9: 22,161,140 (GRCm39) C342R probably damaging Het
Zfp777 T G 6: 48,001,790 (GRCm39) K811Q probably damaging Het
Zfp870 T A 17: 33,102,570 (GRCm39) H254L probably benign Het
Other mutations in Cdhr5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02097:Cdhr5 APN 7 140,849,894 (GRCm39) missense probably damaging 0.99
IGL02662:Cdhr5 APN 7 140,854,416 (GRCm39) missense possibly damaging 0.57
R0002:Cdhr5 UTSW 7 140,849,933 (GRCm39) splice site probably null
R0098:Cdhr5 UTSW 7 140,849,781 (GRCm39) missense probably damaging 1.00
R0201:Cdhr5 UTSW 7 140,856,291 (GRCm39) missense probably damaging 1.00
R0494:Cdhr5 UTSW 7 140,852,431 (GRCm39) missense probably damaging 1.00
R0508:Cdhr5 UTSW 7 140,852,812 (GRCm39) missense probably benign 0.41
R0918:Cdhr5 UTSW 7 140,852,062 (GRCm39) missense probably damaging 1.00
R1570:Cdhr5 UTSW 7 140,851,682 (GRCm39) missense probably damaging 1.00
R1571:Cdhr5 UTSW 7 140,852,083 (GRCm39) missense probably damaging 1.00
R1838:Cdhr5 UTSW 7 140,852,516 (GRCm39) missense possibly damaging 0.93
R3912:Cdhr5 UTSW 7 140,853,770 (GRCm39) missense probably damaging 1.00
R4289:Cdhr5 UTSW 7 140,852,752 (GRCm39) missense probably damaging 0.99
R4491:Cdhr5 UTSW 7 140,853,970 (GRCm39) missense possibly damaging 0.55
R4838:Cdhr5 UTSW 7 140,853,644 (GRCm39) missense probably damaging 1.00
R4949:Cdhr5 UTSW 7 140,852,557 (GRCm39) missense probably damaging 0.97
R5187:Cdhr5 UTSW 7 140,854,361 (GRCm39) missense probably damaging 1.00
R5344:Cdhr5 UTSW 7 140,856,437 (GRCm39) missense probably damaging 0.97
R5642:Cdhr5 UTSW 7 140,849,110 (GRCm39) nonsense probably null
R7172:Cdhr5 UTSW 7 140,851,841 (GRCm39) missense possibly damaging 0.90
R7212:Cdhr5 UTSW 7 140,852,572 (GRCm39) missense probably damaging 0.99
R7693:Cdhr5 UTSW 7 140,851,691 (GRCm39) missense probably benign
R8397:Cdhr5 UTSW 7 140,851,801 (GRCm39) missense possibly damaging 0.87
R8682:Cdhr5 UTSW 7 140,855,899 (GRCm39) critical splice donor site probably null
R8804:Cdhr5 UTSW 7 140,849,320 (GRCm39) missense probably benign 0.01
R9216:Cdhr5 UTSW 7 140,851,615 (GRCm39) missense possibly damaging 0.55
R9304:Cdhr5 UTSW 7 140,851,474 (GRCm39) missense probably benign 0.06
RF016:Cdhr5 UTSW 7 140,852,097 (GRCm39) missense possibly damaging 0.90
Predicted Primers PCR Primer
(F):5'- ACAGCTGAGTTGAGGTCCTAG -3'
(R):5'- GTGTTCCCAGTTGTAGCTCC -3'

Sequencing Primer
(F):5'- TTGAGGTCCTAGATGAGGCACTAC -3'
(R):5'- TCCTCAGGCTGATCAGGAAGAC -3'
Posted On 2018-07-24