Incidental Mutation 'R8938:Cdhr1'
| ID |
680801 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdhr1
|
| Ensembl Gene |
ENSMUSG00000021803 |
| Gene Name |
cadherin-related family member 1 |
| Synonyms |
Prcad, Pcdh21 |
| MMRRC Submission |
068711-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.132)
|
| Stock # |
R8938 (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 A
at 36809405 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 299
(T299S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022337
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022337]
|
| AlphaFold |
Q8VHP6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022337
AA Change: T299S
PolyPhen 2
Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000022337
Gene: ENSMUSG00000021803
AA Change: T299S
| 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: 99.6%
- 20x: 98.7%
|
| 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 |
|---|
| 2310002L09Rik |
A |
G |
4: 73,861,424 (GRCm39) |
S59P |
probably damaging |
Het |
| Abcc8 |
G |
T |
7: 45,816,418 (GRCm39) |
H241N |
|
Het |
| Acsm1 |
T |
C |
7: 119,258,385 (GRCm39) |
S493P |
probably damaging |
Het |
| Agtr1a |
T |
C |
13: 30,565,049 (GRCm39) |
I38T |
probably damaging |
Het |
| Ahnak |
T |
C |
19: 8,989,099 (GRCm39) |
I3461T |
probably benign |
Het |
| Bbox1 |
T |
A |
2: 110,100,529 (GRCm39) |
T223S |
probably benign |
Het |
| Brip1 |
T |
C |
11: 86,039,227 (GRCm39) |
K436E |
possibly damaging |
Het |
| Cr2 |
T |
C |
1: 194,853,424 (GRCm39) |
D18G |
probably damaging |
Het |
| Cyp51 |
T |
C |
5: 4,150,202 (GRCm39) |
I174V |
probably benign |
Het |
| Dnah2 |
A |
T |
11: 69,328,754 (GRCm39) |
Y3290N |
probably damaging |
Het |
| Fcho1 |
T |
G |
8: 72,169,790 (GRCm39) |
K111T |
possibly damaging |
Het |
| Firrm |
C |
T |
1: 163,789,541 (GRCm39) |
V665I |
probably benign |
Het |
| Gli2 |
A |
T |
1: 118,763,935 (GRCm39) |
D1405E |
probably damaging |
Het |
| Gsg1l2 |
A |
G |
11: 67,680,399 (GRCm39) |
H278R |
possibly damaging |
Het |
| H2-K2 |
T |
C |
17: 34,216,294 (GRCm39) |
H284R |
probably damaging |
Het |
| Ighv1-62-1 |
C |
T |
12: 115,350,735 (GRCm39) |
W5* |
probably null |
Het |
| Ighv1-81 |
T |
A |
12: 115,883,988 (GRCm39) |
T88S |
probably benign |
Het |
| Igkv4-57 |
T |
A |
6: 69,553,256 (GRCm39) |
M19L |
probably benign |
Het |
| Klk1b3 |
G |
T |
7: 43,849,729 (GRCm39) |
W38L |
probably damaging |
Het |
| Lama3 |
T |
C |
18: 12,689,762 (GRCm39) |
S2835P |
probably damaging |
Het |
| Lhx8 |
T |
C |
3: 154,028,024 (GRCm39) |
N145S |
possibly damaging |
Het |
| Mfsd6 |
A |
T |
1: 52,748,454 (GRCm39) |
L137H |
probably damaging |
Het |
| Mmp12 |
GTAATAATAATAATAATAAT |
GTAATAATAATAATAAT |
9: 7,348,446 (GRCm39) |
|
probably benign |
Het |
| Mpst |
A |
T |
15: 78,294,270 (GRCm39) |
M1L |
possibly damaging |
Het |
| Mrpl2 |
T |
A |
17: 46,957,238 (GRCm39) |
|
probably benign |
Het |
| Mybpc3 |
T |
C |
2: 90,954,294 (GRCm39) |
V224A |
probably damaging |
Het |
| Nol4l |
T |
C |
2: 153,262,651 (GRCm39) |
D63G |
probably damaging |
Het |
| Or8g36 |
A |
T |
9: 39,422,910 (GRCm39) |
Y35* |
probably null |
Het |
| Patz1 |
C |
T |
11: 3,240,660 (GRCm39) |
T16I |
probably damaging |
Het |
| Pcdha3 |
A |
G |
18: 37,080,154 (GRCm39) |
I299V |
probably benign |
Het |
| Pcdhb18 |
G |
T |
18: 37,623,537 (GRCm39) |
R289L |
probably benign |
Het |
| Pcdhga6 |
A |
T |
18: 37,841,562 (GRCm39) |
R427S |
probably benign |
Het |
| Pcdhga8 |
T |
A |
18: 37,859,955 (GRCm39) |
V337E |
probably damaging |
Het |
| Pik3c2b |
T |
A |
1: 133,016,068 (GRCm39) |
W877R |
probably benign |
Het |
| Plcg2 |
T |
C |
8: 118,231,114 (GRCm39) |
|
probably null |
Het |
| Prp2 |
C |
A |
6: 132,577,581 (GRCm39) |
H289Q |
unknown |
Het |
| Rac2 |
A |
G |
15: 78,446,112 (GRCm39) |
L192P |
probably damaging |
Het |
| Rfx4 |
T |
A |
10: 84,675,936 (GRCm39) |
Y51N |
probably damaging |
Het |
| Rptn |
A |
T |
3: 93,302,332 (GRCm39) |
Q16L |
possibly damaging |
Het |
| Ryr1 |
C |
T |
7: 28,801,358 (GRCm39) |
G802D |
probably damaging |
Het |
| Shroom3 |
T |
C |
5: 93,090,930 (GRCm39) |
S1146P |
probably damaging |
Het |
| Stam |
T |
C |
2: 14,133,984 (GRCm39) |
|
probably null |
Het |
| Vmn2r100 |
A |
G |
17: 19,751,825 (GRCm39) |
M623V |
probably benign |
Het |
| Wdr90 |
G |
A |
17: 26,076,146 (GRCm39) |
R104C |
|
Het |
| Xkr7 |
T |
C |
2: 152,874,133 (GRCm39) |
F67L |
probably damaging |
Het |
| Zfp451 |
A |
T |
1: 33,842,063 (GRCm39) |
|
probably benign |
Het |
| Zfp609 |
C |
T |
9: 65,610,561 (GRCm39) |
A801T |
possibly damaging |
Het |
| Zfp974 |
A |
T |
7: 27,610,311 (GRCm39) |
H471Q |
possibly 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 |
|
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'- CAGTAACCCTGCTTGTACTCA -3'
(R):5'- GGCCCAGATAGTTGACAGTATT -3'
Sequencing Primer
(F):5'- CAGACGCTCTTTGGAGGAACATTTC -3'
(R):5'- GTATTACAATCTATGAGAAGCTCCCC -3'
|
| Posted On |
2021-08-31 |
Incidental Mutation