Incidental Mutation 'R0788:Cdhr1'
| ID |
76366 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdhr1
|
| Ensembl Gene |
ENSMUSG00000021803 |
| Gene Name |
cadherin-related family member 1 |
| Synonyms |
Prcad, Pcdh21 |
| MMRRC Submission |
038968-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.143)
|
| Stock # |
R0788 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
36799814-36820304 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to C
at 36809332 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022337
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022337]
|
| AlphaFold |
Q8VHP6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000022337
|
| SMART Domains |
Protein: ENSMUSP00000022337
Gene: ENSMUSG00000021803
| 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 |
0.9497 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 96.9%
- 20x: 93.0%
|
| Validation Efficiency |
98% (53/54) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833420G17Rik |
T |
A |
13: 119,610,468 (GRCm39) |
Y380* |
probably null |
Het |
| 4931406B18Rik |
C |
A |
7: 43,148,623 (GRCm39) |
S196I |
probably damaging |
Het |
| Ablim2 |
T |
C |
5: 36,015,245 (GRCm39) |
S519P |
probably benign |
Het |
| Adnp2 |
A |
C |
18: 80,173,219 (GRCm39) |
C397G |
probably benign |
Het |
| Aldh1l2 |
A |
G |
10: 83,352,028 (GRCm39) |
S156P |
probably damaging |
Het |
| Bcl2l15 |
G |
T |
3: 103,740,794 (GRCm39) |
|
probably null |
Het |
| Brd9 |
T |
A |
13: 74,092,986 (GRCm39) |
|
probably benign |
Het |
| Cars2 |
A |
C |
8: 11,579,672 (GRCm39) |
I262R |
possibly damaging |
Het |
| Ccdc106 |
T |
C |
7: 5,060,533 (GRCm39) |
|
probably benign |
Het |
| Cdh3 |
G |
A |
8: 107,268,047 (GRCm39) |
V361M |
probably benign |
Het |
| Cdk5rap2 |
A |
G |
4: 70,225,468 (GRCm39) |
I559T |
possibly damaging |
Het |
| Cdkn2aip |
T |
A |
8: 48,166,798 (GRCm39) |
Q3L |
possibly damaging |
Het |
| Chd1 |
G |
T |
17: 15,927,376 (GRCm39) |
V10F |
possibly damaging |
Het |
| Col4a4 |
G |
A |
1: 82,502,717 (GRCm39) |
P356S |
unknown |
Het |
| Col6a4 |
T |
C |
9: 105,949,197 (GRCm39) |
K813E |
probably benign |
Het |
| Cttnbp2 |
G |
A |
6: 18,423,834 (GRCm39) |
T830I |
probably damaging |
Het |
| Cyp2t4 |
A |
G |
7: 26,854,588 (GRCm39) |
M23V |
probably null |
Het |
| Cyp3a16 |
T |
C |
5: 145,401,886 (GRCm39) |
K59E |
probably benign |
Het |
| Dpysl5 |
G |
A |
5: 30,946,185 (GRCm39) |
|
probably null |
Het |
| E130308A19Rik |
T |
A |
4: 59,719,847 (GRCm39) |
Y460N |
possibly damaging |
Het |
| Ear6 |
T |
A |
14: 52,091,487 (GRCm39) |
C11* |
probably null |
Het |
| Fat1 |
C |
T |
8: 45,477,020 (GRCm39) |
T1999M |
probably benign |
Het |
| Gsdmd |
T |
A |
15: 75,736,103 (GRCm39) |
C77* |
probably null |
Het |
| Hsp90ab1 |
ACTTCTT |
ACTT |
17: 45,880,425 (GRCm39) |
|
probably benign |
Het |
| Kif28 |
A |
T |
1: 179,532,788 (GRCm39) |
|
probably benign |
Het |
| Krt6b |
A |
G |
15: 101,585,954 (GRCm39) |
I373T |
probably damaging |
Het |
| Lgr5 |
T |
C |
10: 115,288,902 (GRCm39) |
T509A |
probably damaging |
Het |
| Mapkbp1 |
C |
T |
2: 119,854,482 (GRCm39) |
P1354S |
probably benign |
Het |
| Nat10 |
A |
G |
2: 103,573,460 (GRCm39) |
S346P |
probably damaging |
Het |
| Ncoa2 |
T |
C |
1: 13,237,113 (GRCm39) |
|
probably benign |
Het |
| Necap1 |
C |
T |
6: 122,858,495 (GRCm39) |
R113W |
probably damaging |
Het |
| Or1l4 |
T |
A |
2: 37,092,035 (GRCm39) |
Y261N |
possibly damaging |
Het |
| Orc4 |
A |
T |
2: 48,827,479 (GRCm39) |
V38E |
possibly damaging |
Het |
| Per1 |
G |
A |
11: 68,992,185 (GRCm39) |
|
probably benign |
Het |
| Polb |
T |
C |
8: 23,132,354 (GRCm39) |
D130G |
probably null |
Het |
| Ppcs |
T |
C |
4: 119,279,375 (GRCm39) |
N59S |
probably damaging |
Het |
| Ppp2ca |
A |
G |
11: 52,003,969 (GRCm39) |
E42G |
possibly damaging |
Het |
| Ptprf |
T |
C |
4: 118,083,663 (GRCm39) |
T807A |
probably damaging |
Het |
| Rapgef2 |
A |
C |
3: 79,006,502 (GRCm39) |
F284V |
possibly damaging |
Het |
| Sestd1 |
A |
T |
2: 77,022,060 (GRCm39) |
F544I |
probably damaging |
Het |
| Slfn3 |
G |
A |
11: 83,103,662 (GRCm39) |
G178S |
possibly damaging |
Het |
| Supt6 |
G |
A |
11: 78,098,598 (GRCm39) |
|
probably benign |
Het |
| Tas2r109 |
T |
A |
6: 132,957,264 (GRCm39) |
Q222L |
probably benign |
Het |
| Tekt4 |
A |
C |
17: 25,691,021 (GRCm39) |
D109A |
probably damaging |
Het |
| Tob2 |
C |
A |
15: 81,735,903 (GRCm39) |
R22L |
probably damaging |
Het |
| Ttn |
T |
G |
2: 76,653,282 (GRCm39) |
E178D |
possibly damaging |
Het |
| Ube2u |
C |
A |
4: 100,371,937 (GRCm39) |
|
probably benign |
Het |
| Uggt2 |
A |
G |
14: 119,332,812 (GRCm39) |
|
probably benign |
Het |
| Vstm2a |
T |
C |
11: 16,209,968 (GRCm39) |
F65L |
probably damaging |
Het |
| Zfp57 |
A |
G |
17: 37,317,092 (GRCm39) |
|
probably benign |
Het |
| Znrf3 |
G |
T |
11: 5,231,320 (GRCm39) |
P731Q |
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 |
|
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 |
|
|
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'- CCTCAGTTGCTGTCACAAAAGACCC -3'
(R):5'- CCCTGCCTATGACCTTACGCTAAAC -3'
Sequencing Primer
(F):5'- GGAACTGTCAATCACTGCTG -3'
(R):5'- TGACCTTACGCTAAACTATAGGATG -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation