Incidental Mutation 'R2248:Cdhr1'
| ID |
240977 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdhr1
|
| Ensembl Gene |
ENSMUSG00000021803 |
| Gene Name |
cadherin-related family member 1 |
| Synonyms |
Prcad, Pcdh21 |
| MMRRC Submission |
040248-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.143)
|
| Stock # |
R2248 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
36799814-36820304 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 36803334 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 581
(V581L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022337
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022337]
|
| AlphaFold |
Q8VHP6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022337
AA Change: V581L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000022337
Gene: ENSMUSG00000021803
AA Change: V581L
| 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 |
0.0881 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (67/67) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca2 |
A |
G |
2: 25,323,476 (GRCm39) |
|
probably benign |
Het |
| Afp |
A |
G |
5: 90,649,429 (GRCm39) |
D332G |
probably damaging |
Het |
| AI593442 |
TGAGGAGGAGGAGGAGGA |
TGAGGAGGAGGAGGA |
9: 52,589,114 (GRCm39) |
|
probably benign |
Het |
| Aldh1a2 |
A |
T |
9: 71,123,144 (GRCm39) |
I6F |
possibly damaging |
Het |
| Alg6 |
C |
T |
4: 99,626,444 (GRCm39) |
A84V |
probably damaging |
Het |
| Ank |
T |
A |
15: 27,562,797 (GRCm39) |
|
probably null |
Het |
| Ano5 |
A |
T |
7: 51,243,537 (GRCm39) |
M837L |
probably benign |
Het |
| Arl8b |
A |
G |
6: 108,760,304 (GRCm39) |
Y30C |
probably benign |
Het |
| Bfsp1 |
A |
T |
2: 143,669,572 (GRCm39) |
|
probably null |
Het |
| Chst8 |
G |
T |
7: 34,447,597 (GRCm39) |
T7K |
probably damaging |
Het |
| Clca3b |
T |
C |
3: 144,530,980 (GRCm39) |
K790R |
probably benign |
Het |
| Clta |
A |
G |
4: 44,012,852 (GRCm39) |
N21D |
probably damaging |
Het |
| Col6a4 |
T |
G |
9: 105,957,158 (GRCm39) |
E222A |
probably benign |
Het |
| Dcc |
G |
T |
18: 71,959,239 (GRCm39) |
Q178K |
probably benign |
Het |
| Dpysl3 |
T |
C |
18: 43,491,358 (GRCm39) |
D140G |
possibly damaging |
Het |
| Dthd1 |
A |
T |
5: 63,007,243 (GRCm39) |
D648V |
probably damaging |
Het |
| Eva1c |
A |
G |
16: 90,628,213 (GRCm39) |
N18S |
probably benign |
Het |
| Flnc |
A |
G |
6: 29,451,400 (GRCm39) |
H1538R |
probably damaging |
Het |
| Foxn3 |
T |
C |
12: 99,162,815 (GRCm39) |
E362G |
probably benign |
Het |
| Frk |
C |
A |
10: 34,484,527 (GRCm39) |
T500K |
probably benign |
Het |
| Glipr1l1 |
A |
G |
10: 111,898,192 (GRCm39) |
E99G |
probably benign |
Het |
| Gphn |
T |
C |
12: 78,501,595 (GRCm39) |
L120P |
probably damaging |
Het |
| Gpr152 |
T |
C |
19: 4,193,805 (GRCm39) |
S449P |
probably benign |
Het |
| Greb1 |
T |
A |
12: 16,730,379 (GRCm39) |
I1655F |
possibly damaging |
Het |
| Hectd1 |
G |
T |
12: 51,853,254 (GRCm39) |
T89N |
probably damaging |
Het |
| Helz2 |
A |
C |
2: 180,875,226 (GRCm39) |
I1756S |
probably benign |
Het |
| Hydin |
G |
T |
8: 111,304,835 (GRCm39) |
R3825L |
probably benign |
Het |
| Ifi207 |
G |
A |
1: 173,564,036 (GRCm39) |
|
probably benign |
Het |
| Itpr3 |
A |
T |
17: 27,334,033 (GRCm39) |
E2035V |
probably damaging |
Het |
| Khnyn |
T |
A |
14: 56,124,195 (GRCm39) |
S150T |
probably benign |
Het |
| Kif21b |
T |
C |
1: 136,100,704 (GRCm39) |
I1595T |
probably damaging |
Het |
| Lgsn |
A |
T |
1: 31,242,607 (GRCm39) |
T230S |
possibly damaging |
Het |
| Limch1 |
G |
T |
5: 67,201,742 (GRCm39) |
G838V |
probably damaging |
Het |
| Lrp2 |
T |
A |
2: 69,341,354 (GRCm39) |
D942V |
probably damaging |
Het |
| Lrrc31 |
T |
A |
3: 30,744,050 (GRCm39) |
T153S |
possibly damaging |
Het |
| Mal2 |
T |
A |
15: 54,451,732 (GRCm39) |
I51N |
probably damaging |
Het |
| Matcap2 |
A |
G |
9: 22,355,410 (GRCm39) |
T482A |
probably benign |
Het |
| Mroh2a |
T |
C |
1: 88,184,476 (GRCm39) |
V1453A |
probably benign |
Het |
| Mycbp2 |
T |
A |
14: 103,407,295 (GRCm39) |
Q385L |
possibly damaging |
Het |
| Nav3 |
T |
A |
10: 109,532,088 (GRCm39) |
D2117V |
probably damaging |
Het |
| Ntn1 |
T |
C |
11: 68,168,398 (GRCm39) |
N353S |
possibly damaging |
Het |
| Oas1c |
T |
C |
5: 120,940,926 (GRCm39) |
E289G |
possibly damaging |
Het |
| Or2m13 |
A |
G |
16: 19,225,944 (GRCm39) |
V274A |
probably damaging |
Het |
| Or4a81 |
C |
A |
2: 89,619,524 (GRCm39) |
M57I |
possibly damaging |
Het |
| Or5w17 |
T |
C |
2: 87,584,287 (GRCm39) |
I17V |
probably null |
Het |
| Plk1 |
A |
G |
7: 121,768,044 (GRCm39) |
|
probably benign |
Het |
| Pms2 |
G |
A |
5: 143,853,324 (GRCm39) |
V230M |
probably damaging |
Het |
| Pole3 |
C |
A |
4: 62,443,250 (GRCm39) |
|
probably benign |
Het |
| Ppp2r5c |
T |
C |
12: 110,452,357 (GRCm39) |
F22S |
probably benign |
Het |
| Prp2rt |
C |
A |
13: 97,235,406 (GRCm39) |
V114F |
possibly damaging |
Het |
| Ptcd3 |
A |
T |
6: 71,871,269 (GRCm39) |
|
probably null |
Het |
| Ptprq |
A |
T |
10: 107,478,931 (GRCm39) |
|
probably null |
Het |
| Rab18 |
T |
A |
18: 6,788,629 (GRCm39) |
C199S |
probably damaging |
Het |
| Rbp3 |
C |
T |
14: 33,677,975 (GRCm39) |
T641M |
probably damaging |
Het |
| Sacs |
A |
G |
14: 61,450,251 (GRCm39) |
N4099S |
probably damaging |
Het |
| Sh3yl1 |
T |
A |
12: 30,992,869 (GRCm39) |
|
probably null |
Het |
| Slco1c1 |
T |
A |
6: 141,492,415 (GRCm39) |
I217N |
probably damaging |
Het |
| Syne2 |
C |
T |
12: 76,143,678 (GRCm39) |
T6241I |
probably damaging |
Het |
| Tas2r119 |
T |
C |
15: 32,178,297 (GRCm39) |
F288L |
possibly damaging |
Het |
| Tmod2 |
G |
T |
9: 75,499,931 (GRCm39) |
T107N |
probably benign |
Het |
| Trappc6b |
T |
C |
12: 59,097,167 (GRCm39) |
T52A |
probably damaging |
Het |
| Tsen54 |
A |
G |
11: 115,706,232 (GRCm39) |
E122G |
probably damaging |
Het |
| Tspear |
A |
G |
10: 77,709,103 (GRCm39) |
N443S |
probably damaging |
Het |
| Unc80 |
A |
G |
1: 66,662,365 (GRCm39) |
|
probably benign |
Het |
| Virma |
T |
A |
4: 11,518,927 (GRCm39) |
Y725N |
probably damaging |
Het |
| Vwa7 |
G |
A |
17: 35,238,019 (GRCm39) |
D207N |
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 |
|
|
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 |
|
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'- AAGTTCAACATTCAAGCCCTCTG -3'
(R):5'- CATCCACTGGGCTTATCTACAC -3'
Sequencing Primer
(F):5'- ATTCAAGCCCTCTGAACCTTAG -3'
(R):5'- ATCTACACTCAGCCCTGGG -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation