Incidental Mutation 'R8848:Cdhr1'
| ID |
674849 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdhr1
|
| Ensembl Gene |
ENSMUSG00000021803 |
| Gene Name |
cadherin-related family member 1 |
| Synonyms |
Prcad, Pcdh21 |
| MMRRC Submission |
068671-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.143)
|
| Stock # |
R8848 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
36799814-36820304 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 36802531 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 644
(N644I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022337
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022337]
|
| AlphaFold |
Q8VHP6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022337
AA Change: N644I
PolyPhen 2
Score 0.213 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000022337
Gene: ENSMUSG00000021803
AA Change: N644I
| 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 |
0.1917 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (61/61) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110059G10Rik |
T |
C |
9: 122,778,106 (GRCm39) |
D46G |
probably benign |
Het |
| Abcc8 |
A |
T |
7: 45,766,769 (GRCm39) |
W1004R |
possibly damaging |
Het |
| Acbd3 |
T |
A |
1: 180,562,084 (GRCm39) |
|
probably null |
Het |
| Adh1 |
G |
T |
3: 137,986,262 (GRCm39) |
C83F |
probably benign |
Het |
| Arhgef18 |
T |
C |
8: 3,477,481 (GRCm39) |
V20A |
probably benign |
Het |
| Bmal1 |
T |
C |
7: 112,905,327 (GRCm39) |
I506T |
possibly damaging |
Het |
| Brf2 |
T |
C |
8: 27,616,140 (GRCm39) |
I82V |
probably benign |
Het |
| C7 |
A |
G |
15: 5,088,911 (GRCm39) |
V10A |
probably damaging |
Het |
| Cacna1d |
C |
T |
14: 29,845,283 (GRCm39) |
V651M |
possibly damaging |
Het |
| Cacna2d2 |
T |
C |
9: 107,391,855 (GRCm39) |
I458T |
possibly damaging |
Het |
| Cadps2 |
C |
A |
6: 23,344,256 (GRCm39) |
W897L |
probably damaging |
Het |
| Cox7c |
A |
T |
13: 86,193,900 (GRCm39) |
I55K |
possibly damaging |
Het |
| Cox8c |
T |
A |
12: 102,865,577 (GRCm39) |
|
probably benign |
Het |
| Cyp2c40 |
G |
A |
19: 39,801,244 (GRCm39) |
R4C |
unknown |
Het |
| Ehd3 |
A |
T |
17: 74,136,911 (GRCm39) |
|
probably null |
Het |
| Eif2b4 |
A |
T |
5: 31,348,210 (GRCm39) |
C227S |
probably damaging |
Het |
| Erlec1 |
T |
C |
11: 30,898,411 (GRCm39) |
Y213C |
probably damaging |
Het |
| F11 |
G |
T |
8: 45,695,281 (GRCm39) |
Y562* |
probably null |
Het |
| Fam186a |
A |
G |
15: 99,838,034 (GRCm39) |
S2737P |
possibly damaging |
Het |
| Fat3 |
T |
C |
9: 15,878,398 (GRCm39) |
E3361G |
probably damaging |
Het |
| Fbxl7 |
T |
A |
15: 26,552,902 (GRCm39) |
M122L |
probably benign |
Het |
| Fras1 |
T |
A |
5: 96,929,207 (GRCm39) |
N3870K |
probably damaging |
Het |
| Gm12185 |
T |
A |
11: 48,806,280 (GRCm39) |
T304S |
possibly damaging |
Het |
| Grin3b |
A |
T |
10: 79,809,667 (GRCm39) |
D391V |
probably benign |
Het |
| Hao2 |
T |
A |
3: 98,784,528 (GRCm39) |
D279V |
probably damaging |
Het |
| Il4i1 |
C |
A |
7: 44,489,175 (GRCm39) |
D313E |
probably damaging |
Het |
| Kcnk7 |
T |
A |
19: 5,756,743 (GRCm39) |
L244Q |
probably damaging |
Het |
| Lingo4 |
A |
T |
3: 94,310,840 (GRCm39) |
M593L |
probably benign |
Het |
| Lix1 |
G |
A |
17: 17,663,955 (GRCm39) |
A98T |
probably damaging |
Het |
| Lpo |
T |
A |
11: 87,708,603 (GRCm39) |
I132L |
probably benign |
Het |
| Mymx |
A |
T |
17: 45,912,935 (GRCm39) |
|
probably null |
Het |
| Nms |
T |
C |
1: 38,978,391 (GRCm39) |
S9P |
probably benign |
Het |
| Nom1 |
A |
G |
5: 29,645,137 (GRCm39) |
D535G |
probably damaging |
Het |
| Or2t43 |
T |
A |
11: 58,457,902 (GRCm39) |
I90F |
probably damaging |
Het |
| Or5p81 |
T |
A |
7: 108,266,929 (GRCm39) |
I102N |
probably benign |
Het |
| Or8k25 |
T |
C |
2: 86,243,821 (GRCm39) |
T192A |
probably benign |
Het |
| Pgbd1 |
A |
G |
13: 21,607,052 (GRCm39) |
C381R |
probably damaging |
Het |
| Pkp1 |
T |
C |
1: 135,807,652 (GRCm39) |
S539G |
probably damaging |
Het |
| Plcd3 |
C |
A |
11: 102,971,446 (GRCm39) |
R66L |
probably benign |
Het |
| Polr3a |
A |
T |
14: 24,500,834 (GRCm39) |
L1318Q |
probably damaging |
Het |
| Ppara |
T |
A |
15: 85,673,188 (GRCm39) |
F126L |
possibly damaging |
Het |
| Rab11a |
T |
C |
9: 64,624,264 (GRCm39) |
Y173C |
probably damaging |
Het |
| Rev3l |
T |
A |
10: 39,722,705 (GRCm39) |
M2566K |
probably damaging |
Het |
| Rwdd1 |
A |
G |
10: 33,884,987 (GRCm39) |
|
probably null |
Het |
| Scn7a |
G |
A |
2: 66,530,393 (GRCm39) |
R651* |
probably null |
Het |
| Slc15a4 |
T |
G |
5: 127,679,021 (GRCm39) |
I440L |
probably benign |
Het |
| Slc28a2 |
A |
G |
2: 122,290,902 (GRCm39) |
T623A |
probably benign |
Het |
| Snd1 |
T |
A |
6: 28,874,962 (GRCm39) |
S628T |
possibly damaging |
Het |
| Speg |
T |
C |
1: 75,404,082 (GRCm39) |
|
probably null |
Het |
| Spta1 |
G |
A |
1: 174,025,310 (GRCm39) |
R725K |
probably benign |
Het |
| Stag3 |
A |
G |
5: 138,288,528 (GRCm39) |
E185G |
probably null |
Het |
| Svop |
G |
T |
5: 114,183,687 (GRCm39) |
T195K |
|
Het |
| Tbc1d5 |
A |
T |
17: 51,226,082 (GRCm39) |
F254I |
probably damaging |
Het |
| Ulk3 |
T |
C |
9: 57,496,890 (GRCm39) |
L8P |
probably benign |
Het |
| Unc13c |
T |
C |
9: 73,433,263 (GRCm39) |
I1973V |
probably benign |
Het |
| Upb1 |
T |
A |
10: 75,264,178 (GRCm39) |
|
probably null |
Het |
| Usp53 |
C |
T |
3: 122,742,825 (GRCm39) |
G704S |
probably benign |
Het |
| Usp53 |
T |
C |
3: 122,743,235 (GRCm39) |
D567G |
probably benign |
Het |
| Vmn1r72 |
T |
A |
7: 11,404,269 (GRCm39) |
I60F |
probably damaging |
Het |
| Vmn2r34 |
C |
T |
7: 7,675,307 (GRCm39) |
V694I |
probably benign |
Het |
| Vmn2r60 |
T |
C |
7: 41,786,169 (GRCm39) |
F324S |
probably damaging |
Het |
| Vps37d |
A |
G |
5: 135,102,519 (GRCm39) |
S238P |
probably damaging |
Het |
| Zfp407 |
T |
A |
18: 84,578,819 (GRCm39) |
I765F |
probably damaging |
Het |
| Zfp455 |
A |
G |
13: 67,356,089 (GRCm39) |
I387M |
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 |
|
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'- GATTCCCAGTCCTAGGGTTTG -3'
(R):5'- GATATCATTCCAAGTGTGCTCCCC -3'
Sequencing Primer
(F):5'- CCAGTCCTAGGGTTTGATTTCACAG -3'
(R):5'- AAGTGTGCTCCCCCTCTC -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation