Incidental Mutation 'R9545:Cdhr1'
| ID |
720079 |
| Institutional Source |
Beutler Lab
|
| 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: 0.143)
|
| Stock # |
R9545 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
36799814-36820304 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 36817016 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Threonine
at position 115
(N115T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022337
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022337]
|
| AlphaFold |
Q8VHP6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022337
AA Change: N115T
PolyPhen 2
Score 0.506 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000022337
Gene: ENSMUSG00000021803
AA Change: N115T
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,416,538 (GRCm39) |
L4100Q |
probably damaging |
Het |
| Acss2 |
C |
A |
2: 155,403,716 (GRCm39) |
P652T |
probably damaging |
Het |
| Agl |
A |
T |
3: 116,582,338 (GRCm39) |
I228N |
possibly damaging |
Het |
| Ap5m1 |
C |
G |
14: 49,311,271 (GRCm39) |
Q114E |
possibly damaging |
Het |
| Apob |
C |
T |
12: 8,033,890 (GRCm39) |
T201I |
possibly damaging |
Het |
| As3mt |
G |
A |
19: 46,696,233 (GRCm39) |
V14I |
probably damaging |
Het |
| Atp1a4 |
T |
C |
1: 172,078,464 (GRCm39) |
N258S |
probably benign |
Het |
| Atxn1l |
C |
T |
8: 110,458,688 (GRCm39) |
V525M |
probably damaging |
Het |
| B4galnt4 |
T |
C |
7: 140,644,804 (GRCm39) |
V208A |
probably benign |
Het |
| Bet1 |
A |
T |
6: 4,077,973 (GRCm39) |
S89T |
probably damaging |
Het |
| Cstf1 |
C |
T |
2: 172,212,885 (GRCm39) |
|
probably benign |
Het |
| Dcdc2c |
G |
T |
12: 28,602,295 (GRCm39) |
T3K |
possibly damaging |
Het |
| Deup1 |
C |
T |
9: 15,519,120 (GRCm39) |
E129K |
possibly damaging |
Het |
| Dgkg |
T |
C |
16: 22,385,168 (GRCm39) |
E446G |
possibly damaging |
Het |
| Dolk |
A |
G |
2: 30,176,016 (GRCm39) |
S10P |
probably benign |
Het |
| Gm1110 |
T |
C |
9: 26,800,977 (GRCm39) |
T406A |
probably benign |
Het |
| Gm8439 |
C |
T |
4: 120,445,957 (GRCm39) |
|
probably benign |
Het |
| Gna12 |
A |
G |
5: 140,746,575 (GRCm39) |
I290T |
probably damaging |
Het |
| Gtf2h1 |
T |
C |
7: 46,458,112 (GRCm39) |
|
probably null |
Het |
| Il4 |
C |
T |
11: 53,504,837 (GRCm39) |
R76H |
probably damaging |
Het |
| Itgal |
T |
C |
7: 126,929,422 (GRCm39) |
F1113S |
probably damaging |
Het |
| Kcnc3 |
T |
C |
7: 44,245,357 (GRCm39) |
L549P |
probably damaging |
Het |
| Klhl26 |
T |
C |
8: 70,904,164 (GRCm39) |
D582G |
probably damaging |
Het |
| Lhfpl5 |
C |
A |
17: 28,799,079 (GRCm39) |
A196D |
probably damaging |
Het |
| Lipm |
T |
C |
19: 34,090,392 (GRCm39) |
M191T |
probably benign |
Het |
| Lrp6 |
A |
G |
6: 134,483,329 (GRCm39) |
Y459H |
probably damaging |
Het |
| Lzts1 |
C |
A |
8: 69,591,286 (GRCm39) |
K287N |
probably damaging |
Het |
| Mfsd14b |
C |
A |
13: 65,221,414 (GRCm39) |
V293L |
probably benign |
Het |
| Mmp23 |
T |
A |
4: 155,735,980 (GRCm39) |
Q224L |
probably benign |
Het |
| Ms4a13 |
C |
G |
19: 11,147,332 (GRCm39) |
S194T |
unknown |
Het |
| Ms4a2 |
A |
G |
19: 11,596,237 (GRCm39) |
F164S |
probably benign |
Het |
| Nudt15 |
A |
T |
14: 73,760,918 (GRCm39) |
C58S |
probably damaging |
Het |
| Or2w25 |
A |
G |
11: 59,504,275 (GRCm39) |
T162A |
probably benign |
Het |
| Or8h6 |
T |
C |
2: 86,703,615 (GRCm39) |
I151V |
probably benign |
Het |
| Or9i1 |
A |
G |
19: 13,839,217 (GRCm39) |
H20R |
possibly damaging |
Het |
| Panx3 |
A |
G |
9: 37,575,437 (GRCm39) |
F142L |
probably damaging |
Het |
| Pik3r6 |
T |
C |
11: 68,422,365 (GRCm39) |
Y255H |
probably damaging |
Het |
| Pnpt1 |
T |
C |
11: 29,106,840 (GRCm39) |
V637A |
probably benign |
Het |
| Ppfibp2 |
T |
C |
7: 107,337,504 (GRCm39) |
L602P |
probably damaging |
Het |
| Ppp2r3d |
T |
C |
9: 101,089,214 (GRCm39) |
N370D |
probably benign |
Het |
| Ppp2r5d |
A |
T |
17: 46,995,687 (GRCm39) |
I454N |
probably damaging |
Het |
| Pramel17 |
C |
A |
4: 101,693,097 (GRCm39) |
C301F |
probably damaging |
Het |
| Radil |
A |
G |
5: 142,492,392 (GRCm39) |
V412A |
probably benign |
Het |
| Reep3 |
TTGACAGATTTCATG |
TTG |
10: 66,850,703 (GRCm39) |
|
probably benign |
Het |
| Shank1 |
G |
A |
7: 43,962,342 (GRCm39) |
S71N |
unknown |
Het |
| Skic3 |
T |
A |
13: 76,259,832 (GRCm39) |
V44D |
probably damaging |
Het |
| Spink5 |
G |
A |
18: 44,136,262 (GRCm39) |
V558I |
possibly damaging |
Het |
| Stxbp5l |
T |
C |
16: 37,028,625 (GRCm39) |
|
probably null |
Het |
| Svs5 |
T |
A |
2: 164,079,313 (GRCm39) |
Q198L |
possibly damaging |
Het |
| Thap2 |
A |
T |
10: 115,208,834 (GRCm39) |
N95K |
probably benign |
Het |
| Tie1 |
A |
G |
4: 118,336,112 (GRCm39) |
V718A |
probably benign |
Het |
| Trpm3 |
G |
A |
19: 22,878,458 (GRCm39) |
E632K |
probably benign |
Het |
| Ube4a |
A |
T |
9: 44,843,638 (GRCm39) |
|
probably null |
Het |
| Utp20 |
A |
G |
10: 88,618,511 (GRCm39) |
I1163T |
probably benign |
Het |
| Vav2 |
C |
T |
2: 27,173,351 (GRCm39) |
R491Q |
probably damaging |
Het |
| Wapl |
T |
A |
14: 34,399,050 (GRCm39) |
F40I |
probably damaging |
Het |
| Wdfy3 |
A |
C |
5: 102,100,957 (GRCm39) |
I220R |
|
Het |
| Xrra1 |
T |
A |
7: 99,535,334 (GRCm39) |
V213D |
possibly damaging |
Het |
| Zwilch |
A |
T |
9: 64,051,415 (GRCm39) |
V550E |
probably 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 |
|
|
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 |
|
|
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'- GCCCAGCAGTCATGATCTCTAC -3'
(R):5'- TCTCAAGCCTGGCAAGAAGG -3'
Sequencing Primer
(F):5'- AGCAGTCATGATCTCTACTTGTC -3'
(R):5'- TCGTAGGCCTTGCATGC -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation