Incidental Mutation 'R1604:Cdhr1'
| ID |
176356 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdhr1
|
| Ensembl Gene |
ENSMUSG00000021803 |
| Gene Name |
cadherin-related family member 1 |
| Synonyms |
Prcad, Pcdh21 |
| MMRRC Submission |
039641-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.143)
|
| Stock # |
R1604 (G1)
|
| Quality Score |
120 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
36799814-36820304 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 36817050 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 104
(I104F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022337
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022337]
|
| AlphaFold |
Q8VHP6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022337
AA Change: I104F
PolyPhen 2
Score 0.293 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000022337
Gene: ENSMUSG00000021803
AA Change: I104F
| 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: 99.0%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.1%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldoart2 |
A |
G |
12: 55,612,405 (GRCm39) |
D110G |
probably damaging |
Het |
| Angptl2 |
T |
C |
2: 33,133,785 (GRCm39) |
M369T |
possibly damaging |
Het |
| Anks3 |
C |
T |
16: 4,766,117 (GRCm39) |
V151M |
probably damaging |
Het |
| Arl6ip6 |
T |
C |
2: 53,082,508 (GRCm39) |
L125P |
probably damaging |
Het |
| Bmp1 |
T |
C |
14: 70,745,444 (GRCm39) |
Q247R |
possibly damaging |
Het |
| Ccdc30 |
A |
G |
4: 119,188,793 (GRCm39) |
I491T |
probably damaging |
Het |
| Cdk17 |
G |
T |
10: 93,068,360 (GRCm39) |
M372I |
probably damaging |
Het |
| Cyp2c54 |
A |
G |
19: 40,058,787 (GRCm39) |
V215A |
probably benign |
Het |
| D430041D05Rik |
T |
A |
2: 104,035,487 (GRCm39) |
I1614F |
probably damaging |
Het |
| Ddx55 |
A |
G |
5: 124,697,369 (GRCm39) |
N244D |
probably damaging |
Het |
| Dop1b |
G |
T |
16: 93,559,458 (GRCm39) |
V617F |
probably benign |
Het |
| Erbb4 |
G |
T |
1: 68,385,728 (GRCm39) |
A287E |
possibly damaging |
Het |
| Fmnl2 |
A |
G |
2: 52,995,549 (GRCm39) |
E424G |
probably damaging |
Het |
| Gad2 |
T |
C |
2: 22,513,852 (GRCm39) |
|
probably null |
Het |
| Gm17421 |
G |
A |
12: 113,333,155 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9894 |
T |
A |
13: 67,913,008 (GRCm39) |
|
noncoding transcript |
Het |
| Gnpat |
T |
C |
8: 125,603,700 (GRCm39) |
S193P |
probably damaging |
Het |
| Gpr20 |
C |
T |
15: 73,567,853 (GRCm39) |
V179M |
probably damaging |
Het |
| Hdgf |
T |
A |
3: 87,821,347 (GRCm39) |
|
probably null |
Het |
| Itgb8 |
A |
T |
12: 119,166,265 (GRCm39) |
L89M |
probably damaging |
Het |
| Lnx2 |
T |
C |
5: 146,966,135 (GRCm39) |
D328G |
probably benign |
Het |
| Lrguk |
A |
G |
6: 34,049,305 (GRCm39) |
T341A |
possibly damaging |
Het |
| Map1b |
A |
G |
13: 99,566,080 (GRCm39) |
S2214P |
unknown |
Het |
| Mms22l |
T |
C |
4: 24,502,804 (GRCm39) |
F131L |
probably damaging |
Het |
| Msmo1 |
A |
G |
8: 65,180,689 (GRCm39) |
I75T |
probably damaging |
Het |
| Or10d1c |
A |
T |
9: 38,893,914 (GRCm39) |
M142K |
probably benign |
Het |
| Or2a56 |
G |
A |
6: 42,932,650 (GRCm39) |
A73T |
possibly damaging |
Het |
| Or51k1 |
G |
T |
7: 103,661,162 (GRCm39) |
A249E |
probably damaging |
Het |
| Or8c13 |
A |
G |
9: 38,091,645 (GRCm39) |
V158A |
probably benign |
Het |
| Or8d2 |
T |
G |
9: 38,760,000 (GRCm39) |
F197V |
probably benign |
Het |
| Pkhd1l1 |
C |
T |
15: 44,330,763 (GRCm39) |
R113* |
probably null |
Het |
| Polr2m |
T |
C |
9: 71,390,959 (GRCm39) |
D81G |
probably damaging |
Het |
| Ppp1r15b |
T |
A |
1: 133,060,287 (GRCm39) |
M268K |
probably benign |
Het |
| Ptprcap |
T |
A |
19: 4,206,073 (GRCm39) |
L52* |
probably null |
Het |
| Rasgrp2 |
C |
T |
19: 6,457,087 (GRCm39) |
T277I |
possibly damaging |
Het |
| Rrbp1 |
T |
C |
2: 143,831,310 (GRCm39) |
N286D |
probably damaging |
Het |
| Scml2 |
G |
T |
X: 160,014,442 (GRCm39) |
E566D |
possibly damaging |
Het |
| Scrib |
A |
C |
15: 75,920,089 (GRCm39) |
S1557A |
probably damaging |
Het |
| Sergef |
C |
A |
7: 46,092,783 (GRCm39) |
V409L |
probably benign |
Het |
| Shisal1 |
T |
C |
15: 84,290,672 (GRCm39) |
M212V |
probably benign |
Het |
| Slc6a13 |
A |
G |
6: 121,309,328 (GRCm39) |
M280V |
probably benign |
Het |
| Slc9a8 |
C |
T |
2: 167,313,352 (GRCm39) |
P409S |
probably benign |
Het |
| Smarca4 |
CGAGGAGGAGGAGGAGG |
CGAGGAGGAGGAGG |
9: 21,612,239 (GRCm39) |
|
probably benign |
Het |
| Spc25 |
T |
C |
2: 69,035,498 (GRCm39) |
D4G |
probably damaging |
Het |
| Specc1 |
C |
T |
11: 61,933,883 (GRCm39) |
R88C |
probably damaging |
Het |
| Srsf11 |
C |
T |
3: 157,724,948 (GRCm39) |
|
probably null |
Het |
| Stt3b |
T |
C |
9: 115,079,995 (GRCm39) |
E639G |
probably damaging |
Het |
| Sult3a1 |
A |
C |
10: 33,742,616 (GRCm39) |
E81A |
probably damaging |
Het |
| Taf1b |
G |
A |
12: 24,606,623 (GRCm39) |
G481D |
probably benign |
Het |
| Tgm4 |
T |
C |
9: 122,874,129 (GRCm39) |
V123A |
probably benign |
Het |
| Tie1 |
G |
T |
4: 118,331,604 (GRCm39) |
H973N |
probably damaging |
Het |
| Tmem117 |
C |
T |
15: 94,992,425 (GRCm39) |
R362W |
probably damaging |
Het |
| Txnip |
A |
T |
3: 96,466,277 (GRCm39) |
Q107L |
probably benign |
Het |
| Ubap2 |
C |
T |
4: 41,199,872 (GRCm39) |
A752T |
probably benign |
Het |
| Vcan |
A |
G |
13: 89,837,780 (GRCm39) |
V1628A |
probably benign |
Het |
| Vmn2r115 |
T |
A |
17: 23,564,245 (GRCm39) |
M139K |
probably benign |
Het |
| Wwp1 |
A |
G |
4: 19,659,709 (GRCm39) |
V193A |
probably benign |
Het |
| Zcchc8 |
C |
T |
5: 123,838,721 (GRCm39) |
A606T |
probably benign |
Het |
| Zfp131 |
G |
A |
13: 120,230,316 (GRCm39) |
L371F |
probably damaging |
Het |
| Zfp518b |
T |
C |
5: 38,830,949 (GRCm39) |
D352G |
probably damaging |
Het |
| Zfp784 |
A |
G |
7: 5,039,453 (GRCm39) |
|
probably benign |
Het |
| Zfp940 |
A |
T |
7: 29,545,500 (GRCm39) |
F136I |
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 |
|
|
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'- TGAAGTGAAATGAAGCCCAGCAGTC -3'
(R):5'- GCTTTCCCAGATAAGCTCTCAAGCC -3'
Sequencing Primer
(F):5'- ATGGTCTCACTATGCCTCTCAG -3'
(R):5'- TAAGCTCTCAAGCCTGGCAAG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation