Incidental Mutation 'IGL01820:Cdhr1'
| ID |
154506 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cdhr1
|
| Ensembl Gene |
ENSMUSG00000021803 |
| Gene Name |
cadherin-related family member 1 |
| Synonyms |
Prcad, Pcdh21 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.132)
|
| Stock # |
IGL01820
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
36799814-36820304 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 36807536 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 368
(M368K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022337
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022337]
|
| AlphaFold |
Q8VHP6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022337
AA Change: M368K
PolyPhen 2
Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000022337
Gene: ENSMUSG00000021803
AA Change: M368K
| 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 |
|
| Coding Region Coverage |
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
A |
G |
5: 8,765,896 (GRCm39) |
|
probably benign |
Het |
| Adcy2 |
T |
C |
13: 68,886,664 (GRCm39) |
|
probably null |
Het |
| Akna |
G |
T |
4: 63,304,495 (GRCm39) |
T553N |
probably benign |
Het |
| Boc |
A |
G |
16: 44,312,235 (GRCm39) |
I609T |
possibly damaging |
Het |
| Btbd9 |
C |
T |
17: 30,746,383 (GRCm39) |
V148I |
possibly damaging |
Het |
| Cacna1d |
A |
T |
14: 29,764,823 (GRCm39) |
I2049N |
possibly damaging |
Het |
| Cftr |
A |
G |
6: 18,226,138 (GRCm39) |
Y362C |
probably damaging |
Het |
| Cnppd1 |
G |
T |
1: 75,116,236 (GRCm39) |
|
probably null |
Het |
| Col3a1 |
T |
C |
1: 45,360,768 (GRCm39) |
I66T |
unknown |
Het |
| Col5a2 |
C |
A |
1: 45,481,985 (GRCm39) |
M46I |
unknown |
Het |
| Csmd3 |
G |
T |
15: 47,470,538 (GRCm39) |
C3379* |
probably null |
Het |
| Ctla2b |
T |
A |
13: 61,044,503 (GRCm39) |
*28C |
probably null |
Het |
| Ddhd2 |
C |
T |
8: 26,239,781 (GRCm39) |
E33K |
possibly damaging |
Het |
| Dock3 |
T |
C |
9: 106,773,092 (GRCm39) |
H387R |
probably damaging |
Het |
| Dyrk1b |
T |
A |
7: 27,881,025 (GRCm39) |
|
probably benign |
Het |
| Fam131c |
T |
C |
4: 141,107,648 (GRCm39) |
C53R |
probably damaging |
Het |
| Fat1 |
T |
A |
8: 45,463,539 (GRCm39) |
F1360L |
probably damaging |
Het |
| Gm10320 |
G |
T |
13: 98,626,045 (GRCm39) |
S113* |
probably null |
Het |
| Ifih1 |
T |
C |
2: 62,447,657 (GRCm39) |
D349G |
probably damaging |
Het |
| Il12a |
T |
C |
3: 68,599,495 (GRCm39) |
|
probably benign |
Het |
| Ivl |
A |
T |
3: 92,478,940 (GRCm39) |
M375K |
possibly damaging |
Het |
| Krt82 |
C |
A |
15: 101,451,887 (GRCm39) |
|
probably benign |
Het |
| Mc4r |
C |
T |
18: 66,992,226 (GRCm39) |
V296I |
probably benign |
Het |
| Met |
T |
A |
6: 17,534,230 (GRCm39) |
I691N |
possibly damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,425,937 (GRCm39) |
I2396K |
probably damaging |
Het |
| Napg |
C |
A |
18: 63,119,516 (GRCm39) |
Q135K |
probably benign |
Het |
| Nf2 |
A |
T |
11: 4,739,655 (GRCm39) |
|
probably null |
Het |
| Nrxn1 |
G |
T |
17: 90,950,531 (GRCm39) |
H549Q |
probably damaging |
Het |
| P4ha1 |
T |
A |
10: 59,197,736 (GRCm39) |
I321K |
probably damaging |
Het |
| Prl5a1 |
T |
C |
13: 28,332,683 (GRCm39) |
S94P |
probably benign |
Het |
| Prnp |
T |
C |
2: 131,778,990 (GRCm39) |
V214A |
probably benign |
Het |
| Ptprc |
A |
T |
1: 137,993,936 (GRCm39) |
F1165I |
probably damaging |
Het |
| Rdh10 |
T |
C |
1: 16,198,483 (GRCm39) |
V207A |
possibly damaging |
Het |
| Rel |
A |
T |
11: 23,703,218 (GRCm39) |
N131K |
probably benign |
Het |
| Rgs14 |
A |
T |
13: 55,531,338 (GRCm39) |
D448V |
probably benign |
Het |
| Spag5 |
T |
G |
11: 78,195,085 (GRCm39) |
S131A |
probably benign |
Het |
| Styxl1 |
C |
T |
5: 135,794,604 (GRCm39) |
D88N |
probably damaging |
Het |
| Tlr3 |
C |
T |
8: 45,851,376 (GRCm39) |
R507H |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,616,670 (GRCm39) |
E16528K |
possibly damaging |
Het |
| Txlnb |
T |
C |
10: 17,682,606 (GRCm39) |
|
probably null |
Het |
| Unc13a |
A |
G |
8: 72,107,591 (GRCm39) |
V567A |
probably damaging |
Het |
| Vmn1r8 |
T |
C |
6: 57,013,653 (GRCm39) |
S235P |
possibly damaging |
Het |
| Vmn2r51 |
T |
A |
7: 9,839,409 (GRCm39) |
N60Y |
probably damaging |
Het |
| Wbp1l |
T |
A |
19: 46,640,922 (GRCm39) |
L68Q |
probably damaging |
Het |
| Wdfy3 |
A |
T |
5: 102,071,947 (GRCm39) |
V981E |
probably benign |
Het |
| Zdhhc13 |
T |
C |
7: 48,458,613 (GRCm39) |
S316P |
probably damaging |
Het |
| Zfp516 |
C |
T |
18: 83,005,486 (GRCm39) |
R797C |
probably benign |
Het |
| Zp3r |
A |
G |
1: 130,526,657 (GRCm39) |
V182A |
probably benign |
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 |
|
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 |
|
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 |
|
| Posted On |
2014-02-04 |
Incidental Mutation