Incidental Mutation 'R6890:Cdhr1'
ID 537168
Institutional Source Beutler Lab
Gene Symbol Cdhr1
Ensembl Gene ENSMUSG00000021803
Gene Name cadherin-related family member 1
Synonyms Prcad, Pcdh21
MMRRC Submission 044984-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.143) question?
Stock # R6890 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 36799814-36820304 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 36807602 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 346 (D346G)
Ref Sequence ENSEMBL: ENSMUSP00000022337 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022337]
AlphaFold Q8VHP6
Predicted Effect probably damaging
Transcript: ENSMUST00000022337
AA Change: D346G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022337
Gene: ENSMUSG00000021803
AA Change: D346G

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 0.9453 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
Validation Efficiency 100% (39/39)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alg3 T C 16: 20,424,736 (GRCm39) T270A possibly damaging Het
Ambp G C 4: 63,068,596 (GRCm39) H140Q probably benign Het
Arhgef10 T C 8: 14,978,786 (GRCm39) C18R probably benign Het
Arhgef10l A G 4: 140,271,730 (GRCm39) F548S probably damaging Het
Armh3 A G 19: 45,948,796 (GRCm39) Y228H probably damaging Het
Col18a1 T A 10: 76,949,318 (GRCm39) probably benign Het
Col1a2 T A 6: 4,539,587 (GRCm39) L1285Q unknown Het
Cspg5 T C 9: 110,075,852 (GRCm39) L196P probably damaging Het
Dusp10 T G 1: 183,801,393 (GRCm39) Y387D probably damaging Het
Epb41 A T 4: 131,663,140 (GRCm39) D681E probably damaging Het
Eps8 A G 6: 137,489,255 (GRCm39) V381A probably damaging Het
Fbxw16 A T 9: 109,265,810 (GRCm39) S336R probably benign Het
Gm49368 A G 7: 127,680,901 (GRCm39) R277G probably benign Het
Gsg1 C T 6: 135,214,418 (GRCm39) V320I probably benign Het
Iglc3 T A 16: 18,884,258 (GRCm39) probably benign Het
Klc4 A T 17: 46,942,769 (GRCm39) N598K probably benign Het
Malsu1 A G 6: 49,052,185 (GRCm39) Y135C probably damaging Het
Mapkbp1 T C 2: 119,846,283 (GRCm39) I477T probably damaging Het
Mtss1 G T 15: 58,823,508 (GRCm39) S286R probably damaging Het
Naip2 A C 13: 100,298,549 (GRCm39) S496A probably benign Het
Niban3 T A 8: 72,058,315 (GRCm39) V540D probably damaging Het
Npepps A T 11: 97,158,470 (GRCm39) C98* probably null Het
Nphp3 A C 9: 103,919,153 (GRCm39) Y1267S probably damaging Het
Npr3 A G 15: 11,883,478 (GRCm39) V317A possibly damaging Het
Nsun6 A G 2: 15,053,788 (GRCm39) I7T probably damaging Het
Or13p4 A G 4: 118,546,728 (GRCm39) V307A possibly damaging Het
Or51ai2 A T 7: 103,587,066 (GRCm39) T160S possibly damaging Het
Or5b121 C T 19: 13,507,445 (GRCm39) T180I probably damaging Het
Pcnx1 A G 12: 82,018,150 (GRCm39) H1330R probably benign Het
Rad17 T C 13: 100,773,592 (GRCm39) I201V probably benign Het
Slc26a4 G A 12: 31,599,950 (GRCm39) T126M possibly damaging Het
Slitrk6 A T 14: 110,988,528 (GRCm39) L393* probably null Het
Snx2 A G 18: 53,345,951 (GRCm39) H378R probably damaging Het
Tex21 A G 12: 76,286,229 (GRCm39) probably null Het
Trio A T 15: 27,919,374 (GRCm39) probably benign Het
Vpreb1b T C 16: 17,798,820 (GRCm39) I102T probably damaging Het
Zfp617 T G 8: 72,686,010 (GRCm39) H113Q probably benign Het
Zgpat T A 2: 181,020,304 (GRCm39) I237N 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
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
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
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'- AGACCCAGTCACTTTCAAGG -3'
(R):5'- ACACTCAGTCTTGACTTTGTAGC -3'

Sequencing Primer
(F):5'- CCAGTCACTTTCAAGGGCATG -3'
(R):5'- GGATTCCAAGGTCATTGACATAGCTG -3'
Posted On 2018-10-18