Incidental Mutation 'R3843:Cdhr1'
| ID |
277257 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdhr1
|
| Ensembl Gene |
ENSMUSG00000021803 |
| Gene Name |
cadherin-related family member 1 |
| Synonyms |
Prcad, Pcdh21 |
| MMRRC Submission |
040783-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.132)
|
| Stock # |
R3843 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
36799814-36820304 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 36806884 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 440
(F440L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022337
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022337]
|
| AlphaFold |
Q8VHP6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022337
AA Change: F440L
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000022337
Gene: ENSMUSG00000021803
AA Change: F440L
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
0.2556 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
100% (35/35) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
A |
T |
6: 23,092,495 (GRCm39) |
Y168* |
probably null |
Het |
| Amt |
C |
T |
9: 108,174,420 (GRCm39) |
R62C |
possibly damaging |
Het |
| Arid2 |
C |
T |
15: 96,249,721 (GRCm39) |
T145I |
possibly damaging |
Het |
| Ccdc8 |
T |
C |
7: 16,729,039 (GRCm39) |
V176A |
probably damaging |
Het |
| Ckap2 |
A |
T |
8: 22,665,774 (GRCm39) |
N424K |
probably damaging |
Het |
| Col6a1 |
C |
T |
10: 76,547,175 (GRCm39) |
R730H |
unknown |
Het |
| Dennd1b |
C |
A |
1: 138,981,092 (GRCm39) |
P102Q |
probably damaging |
Het |
| E2f1 |
A |
G |
2: 154,402,748 (GRCm39) |
S340P |
probably benign |
Het |
| Eef1akmt2 |
C |
T |
7: 132,433,305 (GRCm39) |
V134I |
probably damaging |
Het |
| Elp3 |
A |
T |
14: 65,802,932 (GRCm39) |
|
probably null |
Het |
| Grap |
T |
G |
11: 61,551,151 (GRCm39) |
|
probably null |
Het |
| Heatr1 |
T |
C |
13: 12,450,002 (GRCm39) |
Y1999H |
probably benign |
Het |
| Hectd4 |
G |
T |
5: 121,397,936 (GRCm39) |
W288L |
possibly damaging |
Het |
| Hnf4g |
G |
A |
3: 3,716,362 (GRCm39) |
C262Y |
probably benign |
Het |
| Hrh4 |
A |
G |
18: 13,155,343 (GRCm39) |
Y294C |
possibly damaging |
Het |
| Igkv5-39 |
C |
A |
6: 69,877,526 (GRCm39) |
G77W |
probably damaging |
Het |
| Kdm2b |
A |
T |
5: 123,072,856 (GRCm39) |
Y341N |
probably damaging |
Het |
| Kif26b |
T |
C |
1: 178,755,742 (GRCm39) |
L1952P |
probably damaging |
Het |
| Lgr4 |
C |
T |
2: 109,827,118 (GRCm39) |
|
probably benign |
Het |
| Nlrc3 |
G |
A |
16: 3,782,828 (GRCm39) |
R194W |
probably benign |
Het |
| Nup214 |
T |
C |
2: 31,941,112 (GRCm39) |
F547L |
probably damaging |
Het |
| Or5m3 |
A |
G |
2: 85,838,548 (GRCm39) |
I143V |
probably benign |
Het |
| Pdp1 |
T |
C |
4: 11,961,961 (GRCm39) |
K117E |
probably benign |
Het |
| Phtf2 |
G |
A |
5: 20,979,020 (GRCm39) |
A31V |
probably damaging |
Het |
| Pip4p2 |
T |
A |
4: 14,886,553 (GRCm39) |
Y42* |
probably null |
Het |
| Pkhd1 |
A |
T |
1: 20,628,947 (GRCm39) |
C667S |
probably benign |
Het |
| Pnp2 |
T |
A |
14: 51,200,878 (GRCm39) |
L121Q |
probably null |
Het |
| Ppfia1 |
C |
T |
7: 144,058,707 (GRCm39) |
R698Q |
probably benign |
Het |
| Sidt1 |
A |
T |
16: 44,104,587 (GRCm39) |
F275I |
probably benign |
Het |
| Slc50a1 |
A |
T |
3: 89,177,207 (GRCm39) |
I70N |
probably damaging |
Het |
| Sytl2 |
C |
G |
7: 90,009,367 (GRCm39) |
T123R |
possibly damaging |
Het |
| Tlk1 |
T |
A |
2: 70,579,671 (GRCm39) |
T214S |
probably benign |
Het |
| Tmco3 |
A |
G |
8: 13,346,114 (GRCm39) |
|
probably benign |
Het |
| Trim71 |
T |
C |
9: 114,344,914 (GRCm39) |
T335A |
probably benign |
Het |
| Zbtb47 |
T |
A |
9: 121,592,499 (GRCm39) |
V273E |
possibly damaging |
Het |
|
| Other mutations in Cdhr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
|
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'- TTGTTCACATGCCCATTGGATG -3'
(R):5'- GGCGTGTAAGGGTTCTACATC -3'
Sequencing Primer
(F):5'- CCATTGGATGGGCAGAGACTCTG -3'
(R):5'- GTGTAAGGGTTCTACATCTAGCCC -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation