Incidental Mutation 'R0265:Cdhr1'
ID 34881
Institutional Source Beutler Lab
Gene Symbol Cdhr1
Ensembl Gene ENSMUSG00000021803
Gene Name cadherin-related family member 1
Synonyms Prcad, Pcdh21
MMRRC Submission 038491-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.143) question?
Stock # R0265 (G1)
Quality Score 144
Status Validated
Chromosome 14
Chromosomal Location 36799814-36820304 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 36803333 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 581 (V581D)
Ref Sequence ENSEMBL: ENSMUSP00000022337 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022337]
AlphaFold Q8VHP6
Predicted Effect probably benign
Transcript: ENSMUST00000022337
AA Change: V581D

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000022337
Gene: ENSMUSG00000021803
AA Change: V581D

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
CA 57 133 9.4e-7 SMART
CA 157 245 9.44e-21 SMART
CA 269 352 2.06e-12 SMART
CA 383 471 2.68e-11 SMART
CA 495 575 5.26e-19 SMART
CA 594 685 1.64e-6 SMART
transmembrane domain 703 725 N/A INTRINSIC
low complexity region 734 745 N/A INTRINSIC
low complexity region 789 799 N/A INTRINSIC
low complexity region 817 829 N/A INTRINSIC
Meta Mutation Damage Score 0.2691 question?
Coding Region Coverage
  • 1x: 98.5%
  • 3x: 97.4%
  • 10x: 95.6%
  • 20x: 92.0%
Validation Efficiency 99% (83/84)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the cadherin superfamily of calcium-dependent cell adhesion molecules. The encoded protein is a photoreceptor-specific cadherin that plays a role in outer segment disc morphogenesis. Mutations in this gene are associated with inherited retinal dystrophies. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a targeted null mutation exhibit progressive degeneration of retinal photoreceptor cells and a slight reduction in light responses. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A G 7: 119,822,850 (GRCm39) I321V probably benign Het
Adcy7 A G 8: 89,051,391 (GRCm39) D837G probably damaging Het
Aldh1a1 T A 19: 20,617,440 (GRCm39) Y457* probably null Het
Alox5 T C 6: 116,397,323 (GRCm39) Y287C probably benign Het
Ano8 T C 8: 71,933,168 (GRCm39) probably benign Het
Ap3b1 A G 13: 94,630,189 (GRCm39) K815E unknown Het
Atp11a A T 8: 12,906,930 (GRCm39) probably benign Het
Atp6v0a1 A T 11: 100,939,341 (GRCm39) D702V possibly damaging Het
Cacna1b T A 2: 24,651,856 (GRCm39) N108Y probably damaging Het
Ccdc57 G C 11: 120,812,637 (GRCm39) A39G probably benign Het
Cfap20dc T G 14: 8,431,667 (GRCm38) Y655S probably damaging Het
Cyp2b23 A G 7: 26,372,304 (GRCm39) probably benign Het
D430041D05Rik G C 2: 103,998,295 (GRCm39) P1836R probably damaging Het
Ddit4l C T 3: 137,330,048 (GRCm39) probably benign Het
Dnah8 A T 17: 30,909,245 (GRCm39) I1024F probably benign Het
Dync2i1 T C 12: 116,221,026 (GRCm39) probably benign Het
Edc3 T A 9: 57,634,621 (GRCm39) F213I probably damaging Het
Edrf1 G A 7: 133,258,774 (GRCm39) D717N probably damaging Het
Efna5 G A 17: 62,958,068 (GRCm39) P63S probably damaging Het
Elapor2 T C 5: 9,484,681 (GRCm39) L486P probably damaging Het
Entpd3 A G 9: 120,387,547 (GRCm39) Y248C probably damaging Het
Flcn G A 11: 59,686,635 (GRCm39) Q373* probably null Het
Fry T C 5: 150,358,241 (GRCm39) V1908A probably damaging Het
Gabrg3 A T 7: 57,031,365 (GRCm39) Y58* probably null Het
Gabrp A T 11: 33,502,614 (GRCm39) Y417N probably damaging Het
Golga2 C A 2: 32,194,964 (GRCm39) probably null Het
Grip2 C A 6: 91,750,773 (GRCm39) probably null Het
Gsx2 A G 5: 75,237,729 (GRCm39) Y227C probably damaging Het
H2ac1 T C 13: 24,118,632 (GRCm39) V63A probably benign Het
Hif3a T C 7: 16,769,793 (GRCm39) *665W probably null Het
Hsd3b1 C A 3: 98,760,089 (GRCm39) V301L probably damaging Het
Ifitm5 T C 7: 140,529,921 (GRCm39) probably benign Het
Inpp4a A T 1: 37,418,067 (GRCm39) D498V probably damaging Het
Itga1 A T 13: 115,128,995 (GRCm39) D554E probably benign Het
Itk G A 11: 46,280,285 (GRCm39) probably benign Het
Kdm3b T A 18: 34,928,716 (GRCm39) probably benign Het
Klhl6 A G 16: 19,766,984 (GRCm39) V470A probably benign Het
Lamb3 T A 1: 193,002,839 (GRCm39) W95R probably damaging Het
Lbhd2 T A 12: 111,376,676 (GRCm39) I41N probably damaging Het
Lrp4 A T 2: 91,321,015 (GRCm39) S1014C probably damaging Het
Ltbp2 C T 12: 84,832,743 (GRCm39) probably null Het
Map3k19 A G 1: 127,749,919 (GRCm39) I1144T possibly damaging Het
Mfsd10 T C 5: 34,792,507 (GRCm39) probably benign Het
Mocos A G 18: 24,799,333 (GRCm39) D189G probably benign Het
Mvb12a T A 8: 71,999,654 (GRCm39) F224L probably damaging Het
Myo15a A T 11: 60,405,723 (GRCm39) probably null Het
Nos2 A T 11: 78,828,428 (GRCm39) H249L probably damaging Het
Notum A G 11: 120,549,160 (GRCm39) M184T probably benign Het
Nvl C A 1: 180,962,395 (GRCm39) D192Y probably damaging Het
Or10j3 A G 1: 173,031,484 (GRCm39) K187R probably benign Het
Or4f57 T C 2: 111,790,839 (GRCm39) Y193C probably damaging Het
Or5ac22 A T 16: 59,135,434 (GRCm39) F112Y probably damaging Het
Or5m12 T A 2: 85,734,591 (GRCm39) N269I probably benign Het
Or8k27 C A 2: 86,276,303 (GRCm39) V8L probably benign Het
Osgin1 A G 8: 120,172,396 (GRCm39) I397V possibly damaging Het
Otulin A G 15: 27,616,510 (GRCm39) V123A probably damaging Het
P4ha1 A G 10: 59,184,081 (GRCm39) Y181C probably damaging Het
Pcdhgc5 A T 18: 37,954,403 (GRCm39) D559V probably damaging Het
Phf2 T C 13: 48,982,270 (GRCm39) N151S unknown Het
Plxnc1 C A 10: 94,648,991 (GRCm39) G1263C probably benign Het
Rad51ap1 A G 6: 126,901,160 (GRCm39) *338Q probably null Het
Raver1 A G 9: 20,986,955 (GRCm39) S676P probably benign Het
Rfx8 T C 1: 39,727,737 (GRCm39) E196G possibly damaging Het
Rreb1 A T 13: 38,100,131 (GRCm39) K187* probably null Het
Rxfp1 T C 3: 79,574,961 (GRCm39) T217A probably benign Het
Rxra T C 2: 27,642,442 (GRCm39) L305P probably damaging Het
Sardh T C 2: 27,117,078 (GRCm39) probably benign Het
Skor2 A T 18: 76,964,293 (GRCm39) E952D probably damaging Het
Slc22a29 A T 19: 8,147,334 (GRCm39) S343T probably benign Het
Sorbs2 T C 8: 46,238,374 (GRCm39) probably benign Het
Supt7l C T 5: 31,673,262 (GRCm39) V329I probably benign Het
Taar2 G A 10: 23,817,393 (GRCm39) R311H probably benign Het
Tac1 T C 6: 7,559,165 (GRCm39) probably benign Het
Tcn2 A T 11: 3,872,044 (GRCm39) V361D probably damaging Het
Tm2d3 G A 7: 65,347,582 (GRCm39) A170T possibly damaging Het
Tnks G A 8: 35,307,124 (GRCm39) R1142* probably null Het
Ttll7 C A 3: 146,649,915 (GRCm39) Y648* probably null Het
Umod G T 7: 119,065,296 (GRCm39) Q578K probably benign Het
Upf2 G A 2: 6,032,015 (GRCm39) probably benign Het
Vmn2r92 C T 17: 18,388,219 (GRCm39) A408V probably damaging Het
Washc5 A G 15: 59,210,809 (GRCm39) I1013T probably benign Het
Zfp704 C A 3: 9,630,217 (GRCm39) R48L probably damaging Het
Other mutations in Cdhr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00673:Cdhr1 APN 14 36,807,485 (GRCm39) missense probably benign 0.06
IGL01820:Cdhr1 APN 14 36,807,536 (GRCm39) missense probably benign 0.11
IGL02469:Cdhr1 APN 14 36,807,557 (GRCm39) missense possibly damaging 0.68
IGL03373:Cdhr1 APN 14 36,818,257 (GRCm39) missense possibly damaging 0.89
IGL03055:Cdhr1 UTSW 14 36,817,054 (GRCm39) missense probably benign 0.07
PIT4494001:Cdhr1 UTSW 14 36,804,813 (GRCm39) missense probably benign 0.07
R0110:Cdhr1 UTSW 14 36,802,633 (GRCm39) missense probably damaging 0.99
R0219:Cdhr1 UTSW 14 36,801,558 (GRCm39) missense possibly damaging 0.82
R0450:Cdhr1 UTSW 14 36,802,633 (GRCm39) missense probably damaging 0.99
R0510:Cdhr1 UTSW 14 36,802,633 (GRCm39) missense probably damaging 0.99
R0522:Cdhr1 UTSW 14 36,815,957 (GRCm39) critical splice donor site probably null
R0788:Cdhr1 UTSW 14 36,809,332 (GRCm39) critical splice donor site probably null
R0880:Cdhr1 UTSW 14 36,802,591 (GRCm39) missense possibly damaging 0.53
R1209:Cdhr1 UTSW 14 36,804,899 (GRCm39) splice site probably null
R1253:Cdhr1 UTSW 14 36,801,582 (GRCm39) missense probably benign
R1604:Cdhr1 UTSW 14 36,817,050 (GRCm39) missense probably benign 0.29
R1968:Cdhr1 UTSW 14 36,801,682 (GRCm39) missense probably benign 0.00
R2064:Cdhr1 UTSW 14 36,817,062 (GRCm39) missense probably benign 0.10
R2248:Cdhr1 UTSW 14 36,803,334 (GRCm39) missense probably benign
R3843:Cdhr1 UTSW 14 36,806,884 (GRCm39) missense probably benign 0.03
R4178:Cdhr1 UTSW 14 36,804,896 (GRCm39) splice site probably null
R4205:Cdhr1 UTSW 14 36,802,461 (GRCm39) missense probably benign 0.00
R4681:Cdhr1 UTSW 14 36,818,194 (GRCm39) missense probably benign 0.01
R5039:Cdhr1 UTSW 14 36,801,600 (GRCm39) missense probably benign 0.02
R5088:Cdhr1 UTSW 14 36,811,422 (GRCm39) missense probably benign 0.08
R5383:Cdhr1 UTSW 14 36,810,964 (GRCm39) missense possibly damaging 0.94
R5507:Cdhr1 UTSW 14 36,804,802 (GRCm39) missense probably damaging 0.98
R5933:Cdhr1 UTSW 14 36,811,419 (GRCm39) missense probably benign 0.01
R6074:Cdhr1 UTSW 14 36,801,600 (GRCm39) missense probably benign 0.02
R6291:Cdhr1 UTSW 14 36,811,422 (GRCm39) missense probably benign 0.31
R6449:Cdhr1 UTSW 14 36,812,554 (GRCm39) missense probably benign 0.35
R6890:Cdhr1 UTSW 14 36,807,602 (GRCm39) missense probably damaging 1.00
R6891:Cdhr1 UTSW 14 36,819,334 (GRCm39) splice site probably null
R7653:Cdhr1 UTSW 14 36,804,158 (GRCm39) missense probably benign 0.27
R7740:Cdhr1 UTSW 14 36,811,337 (GRCm39) missense probably damaging 0.98
R7805:Cdhr1 UTSW 14 36,803,502 (GRCm39) missense probably benign 0.00
R8081:Cdhr1 UTSW 14 36,815,967 (GRCm39) missense probably benign 0.01
R8147:Cdhr1 UTSW 14 36,801,609 (GRCm39) missense probably benign 0.02
R8164:Cdhr1 UTSW 14 36,801,499 (GRCm39) missense probably damaging 1.00
R8283:Cdhr1 UTSW 14 36,804,737 (GRCm39) missense probably benign 0.00
R8343:Cdhr1 UTSW 14 36,813,935 (GRCm39) missense probably benign 0.00
R8848:Cdhr1 UTSW 14 36,802,531 (GRCm39) missense probably benign 0.21
R8938:Cdhr1 UTSW 14 36,809,405 (GRCm39) missense probably benign 0.17
R9031:Cdhr1 UTSW 14 36,815,976 (GRCm39) missense probably benign
R9035:Cdhr1 UTSW 14 36,810,924 (GRCm39) missense possibly damaging 0.69
R9206:Cdhr1 UTSW 14 36,802,505 (GRCm39) missense probably damaging 0.99
R9246:Cdhr1 UTSW 14 36,801,654 (GRCm39) missense possibly damaging 0.46
R9274:Cdhr1 UTSW 14 36,802,564 (GRCm39) missense probably benign 0.15
R9366:Cdhr1 UTSW 14 36,811,463 (GRCm39) missense possibly damaging 0.92
R9401:Cdhr1 UTSW 14 36,820,055 (GRCm39) missense probably benign
R9545:Cdhr1 UTSW 14 36,817,016 (GRCm39) missense possibly damaging 0.51
R9713:Cdhr1 UTSW 14 36,801,751 (GRCm39) missense probably damaging 1.00
R9797:Cdhr1 UTSW 14 36,803,462 (GRCm39) missense probably damaging 1.00
X0062:Cdhr1 UTSW 14 36,801,736 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CGTGGCTTCACTCCCAGAATAAGG -3'
(R):5'- TGGGCTTATCTACACTCAGCCCTG -3'

Sequencing Primer
(F):5'- gcaagttcaacattcaagccc -3'
(R):5'- CTGGGCCAGCCTGGATG -3'
Posted On 2013-05-09