Incidental Mutation 'R1253:Cdhr1'
ID 151856
Institutional Source Beutler Lab
Gene Symbol Cdhr1
Ensembl Gene ENSMUSG00000021803
Gene Name cadherin-related family member 1
Synonyms Prcad, Pcdh21
MMRRC Submission 039320-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.143) question?
Stock # R1253 (G1)
Quality Score 218
Status Not validated
Chromosome 14
Chromosomal Location 36799814-36820304 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 36801582 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 787 (M787T)
Ref Sequence ENSEMBL: ENSMUSP00000022337 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022337]
AlphaFold Q8VHP6
Predicted Effect probably benign
Transcript: ENSMUST00000022337
AA Change: M787T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000022337
Gene: ENSMUSG00000021803
AA Change: M787T

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
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.8%
  • 20x: 91.0%
Validation Efficiency
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actg2 G A 6: 83,499,869 (GRCm39) T127I probably damaging Het
Aph1b T A 9: 66,697,931 (GRCm39) K102* probably null Het
Caskin1 A G 17: 24,724,047 (GRCm39) K945R probably damaging Het
Ccdc137 C A 11: 120,349,005 (GRCm39) A12E probably benign Het
Cic T A 7: 24,990,373 (GRCm39) V1958E probably damaging Het
Col6a6 T A 9: 105,651,502 (GRCm39) I1170F probably null Het
Cyp2c54 T A 19: 40,034,629 (GRCm39) Y347F probably damaging Het
Kntc1 AGTGT AGT 5: 123,948,925 (GRCm39) probably null Het
Large1 T C 8: 73,775,050 (GRCm39) Y220C probably damaging Het
Macf1 A T 4: 123,351,760 (GRCm39) D1592E probably damaging Het
Mtus2 C T 5: 148,240,380 (GRCm39) Q76* probably null Het
Olfm3 A T 3: 114,916,418 (GRCm39) D450V probably damaging Het
Or1l4b T A 2: 37,036,884 (GRCm39) V220D possibly damaging Het
Or4k6 A G 14: 50,475,581 (GRCm39) C254R probably damaging Het
Or5ae1 T A 7: 84,565,917 (GRCm39) I310K probably benign Het
Ormdl1 G A 1: 53,344,681 (GRCm39) R81K possibly damaging Het
Pcdhb12 G A 18: 37,568,874 (GRCm39) V7I possibly damaging Het
Ptprt A G 2: 162,120,146 (GRCm39) I107T probably damaging Het
Rbm27 A C 18: 42,434,839 (GRCm39) D301A probably damaging Het
Rexo2 A T 9: 48,380,232 (GRCm39) I200N probably damaging Het
Rtn4ip1 A T 10: 43,786,867 (GRCm39) I192L probably benign Het
Serpinb9e T C 13: 33,439,102 (GRCm39) F176S possibly damaging Het
Sorcs3 C A 19: 48,195,175 (GRCm39) A186E possibly damaging Het
Spata31 A G 13: 65,069,838 (GRCm39) Y662C probably benign Het
Sphkap G A 1: 83,256,619 (GRCm39) P377S possibly damaging Het
Srrt T C 5: 137,298,598 (GRCm39) K222R probably benign Het
Tas2r129 T C 6: 132,928,999 (GRCm39) I312T probably benign Het
Thbs4 G T 13: 92,913,413 (GRCm39) P169Q probably benign Het
Tmtc3 T C 10: 100,287,252 (GRCm39) M515V probably benign Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Vmn2r92 T A 17: 18,387,028 (GRCm39) N122K probably benign 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
R0265:Cdhr1 UTSW 14 36,803,333 (GRCm39) missense probably benign 0.02
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
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'- CTGCATCTCACAGTCTGAGGCATC -3'
(R):5'- ACGGCTACCTTCTGGCGTAACAAG -3'

Sequencing Primer
(F):5'- TGAGGCATCTCTTGCCCAAAG -3'
(R):5'- GAAGTCTAACAAGGTCCTGCCTG -3'
Posted On 2014-01-29