Incidental Mutation 'R7618:Cdh18'
| ID |
589022 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdh18
|
| Ensembl Gene |
ENSMUSG00000040420 |
| Gene Name |
cadherin 18 |
| Synonyms |
B230220E17Rik |
| MMRRC Submission |
045685-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.112)
|
| Stock # |
R7618 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
22549108-23474504 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 23367056 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 254
(V254D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130851
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000163361]
[ENSMUST00000164787]
[ENSMUST00000165614]
[ENSMUST00000167623]
[ENSMUST00000226693]
|
| AlphaFold |
E9Q9Q6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000163361
AA Change: V254D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000129170
Gene: ENSMUSG00000040420
AA Change: V254D
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
CA
|
76 |
157 |
4.24e-14 |
SMART |
|
CA
|
181 |
266 |
1.37e-31 |
SMART |
|
Pfam:Cadherin
|
273 |
337 |
2.8e-11 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164787
AA Change: V254D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000130851
Gene: ENSMUSG00000040420
AA Change: V254D
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
CA
|
76 |
157 |
4.24e-14 |
SMART |
|
CA
|
181 |
266 |
1.37e-31 |
SMART |
|
CA
|
290 |
382 |
2.76e-13 |
SMART |
|
CA
|
405 |
486 |
3.86e-26 |
SMART |
|
CA
|
509 |
596 |
3.7e-5 |
SMART |
|
transmembrane domain
|
614 |
636 |
N/A |
INTRINSIC |
|
Pfam:Cadherin_C
|
639 |
783 |
6.8e-54 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165614
AA Change: V254D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000128643
Gene: ENSMUSG00000040420
AA Change: V254D
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
CA
|
76 |
157 |
4.24e-14 |
SMART |
|
CA
|
181 |
266 |
1.37e-31 |
SMART |
|
CA
|
290 |
382 |
2.76e-13 |
SMART |
|
CA
|
405 |
486 |
3.86e-26 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167623
AA Change: V200D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000128011
Gene: ENSMUSG00000040420
AA Change: V200D
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
22 |
103 |
4.24e-14 |
SMART |
|
CA
|
127 |
212 |
1.37e-31 |
SMART |
|
CA
|
236 |
328 |
2.76e-13 |
SMART |
|
CA
|
351 |
414 |
4.15e-8 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000226693
AA Change: V254D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.7561 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
98% (51/52) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a type II classical cadherin from the cadherin superfamily of integral membrane proteins that mediate calcium-dependent cell-cell adhesion. Mature cadherin proteins are composed of a large N-terminal extracellular domain, a single membrane-spanning domain, and a small, highly conserved C-terminal cytoplasmic domain. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. This particular cadherin is expressed specifically in the central nervous system and is putatively involved in synaptic adhesion, axon outgrowth and guidance. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap11 |
T |
C |
14: 78,736,300 (GRCm39) |
D1830G |
|
Het |
| Alms1 |
A |
G |
6: 85,655,399 (GRCm39) |
N2846S |
probably benign |
Het |
| Amt |
A |
C |
9: 108,177,077 (GRCm39) |
E228D |
probably damaging |
Het |
| Ankar |
T |
C |
1: 72,714,925 (GRCm39) |
M618V |
probably benign |
Het |
| Ankrd60 |
T |
C |
2: 173,412,834 (GRCm39) |
|
probably null |
Het |
| Aoc1 |
A |
G |
6: 48,883,320 (GRCm39) |
T399A |
possibly damaging |
Het |
| Aqp11 |
T |
A |
7: 97,386,873 (GRCm39) |
I108F |
probably benign |
Het |
| Arfgef3 |
G |
T |
10: 18,522,029 (GRCm39) |
Q666K |
probably damaging |
Het |
| Bin2 |
T |
A |
15: 100,542,894 (GRCm39) |
R430W |
probably damaging |
Het |
| Brme1 |
A |
G |
8: 84,893,499 (GRCm39) |
Q222R |
possibly damaging |
Het |
| Cfap46 |
A |
T |
7: 139,183,155 (GRCm39) |
S159R |
|
Het |
| Clnk |
A |
T |
5: 38,893,698 (GRCm39) |
S220T |
probably benign |
Het |
| Col19a1 |
G |
T |
1: 24,361,165 (GRCm39) |
H608Q |
probably benign |
Het |
| Cplx1 |
C |
T |
5: 108,673,395 (GRCm39) |
E24K |
possibly damaging |
Het |
| Dnah3 |
A |
T |
7: 119,577,601 (GRCm39) |
L2031Q |
probably damaging |
Het |
| Dok1 |
T |
C |
6: 83,009,872 (GRCm39) |
E79G |
probably benign |
Het |
| Eif4g3 |
T |
C |
4: 137,898,429 (GRCm39) |
S902P |
probably damaging |
Het |
| Emilin3 |
T |
A |
2: 160,751,199 (GRCm39) |
E183D |
probably benign |
Het |
| Fam124b |
G |
A |
1: 80,191,554 (GRCm39) |
|
probably benign |
Het |
| Gm9195 |
T |
C |
14: 72,690,275 (GRCm39) |
Y1816C |
probably damaging |
Het |
| Ighv5-9-1 |
T |
A |
12: 113,699,819 (GRCm39) |
I98F |
probably damaging |
Het |
| Il31ra |
G |
A |
13: 112,688,514 (GRCm39) |
P21L |
possibly damaging |
Het |
| Kat6a |
A |
G |
8: 23,352,578 (GRCm39) |
I121V |
possibly damaging |
Het |
| Kif11 |
T |
C |
19: 37,400,008 (GRCm39) |
W832R |
probably benign |
Het |
| Klhl9 |
T |
C |
4: 88,638,772 (GRCm39) |
T490A |
possibly damaging |
Het |
| Lars1 |
G |
T |
18: 42,377,956 (GRCm39) |
A153E |
probably benign |
Het |
| Muc5b |
A |
T |
7: 141,421,334 (GRCm39) |
I4275L |
probably benign |
Het |
| Myo10 |
T |
A |
15: 25,726,561 (GRCm39) |
C294* |
probably null |
Het |
| Nceh1 |
T |
A |
3: 27,237,366 (GRCm39) |
|
probably null |
Het |
| Ncf1 |
T |
A |
5: 134,256,121 (GRCm39) |
T93S |
probably benign |
Het |
| Nfatc2 |
G |
A |
2: 168,376,919 (GRCm39) |
R545C |
probably damaging |
Het |
| Nos1 |
C |
T |
5: 118,042,009 (GRCm39) |
P545S |
probably benign |
Het |
| Ogfod3 |
C |
A |
11: 121,093,804 (GRCm39) |
V69F |
probably damaging |
Het |
| Or4a27 |
A |
T |
2: 88,559,180 (GRCm39) |
Y254* |
probably null |
Het |
| Phf12 |
A |
G |
11: 77,916,960 (GRCm39) |
N272S |
unknown |
Het |
| Prkcz |
T |
A |
4: 155,346,939 (GRCm39) |
I581F |
probably damaging |
Het |
| Rasgrf2 |
T |
C |
13: 92,136,085 (GRCm39) |
H8R |
|
Het |
| Rb1cc1 |
T |
A |
1: 6,335,782 (GRCm39) |
|
probably null |
Het |
| Rcor2 |
T |
A |
19: 7,248,411 (GRCm39) |
M186K |
possibly damaging |
Het |
| Rnf111 |
C |
A |
9: 70,410,614 (GRCm39) |
|
probably benign |
Het |
| Sanbr |
A |
C |
11: 23,534,550 (GRCm39) |
C602W |
possibly damaging |
Het |
| Serinc3 |
A |
T |
2: 163,472,889 (GRCm39) |
F247Y |
possibly damaging |
Het |
| Serpina1c |
T |
A |
12: 103,865,029 (GRCm39) |
I206F |
probably damaging |
Het |
| Slc25a10 |
G |
A |
11: 120,387,797 (GRCm39) |
|
probably null |
Het |
| Syne2 |
T |
G |
12: 75,992,108 (GRCm39) |
H1993Q |
probably benign |
Het |
| Tap1 |
A |
G |
17: 34,407,212 (GRCm39) |
Y120C |
possibly damaging |
Het |
| Tex30 |
A |
T |
1: 44,127,410 (GRCm39) |
|
probably null |
Het |
| Ube2ql1 |
G |
T |
13: 69,887,066 (GRCm39) |
Q132K |
probably benign |
Het |
| Unc13d |
T |
C |
11: 115,957,547 (GRCm39) |
N803D |
probably damaging |
Het |
| Vcan |
G |
A |
13: 89,840,342 (GRCm39) |
S1734F |
probably damaging |
Het |
| Wdfy4 |
T |
C |
14: 32,707,696 (GRCm39) |
Y2630C |
|
Het |
| Wdr93 |
A |
G |
7: 79,435,474 (GRCm39) |
T668A |
probably benign |
Het |
|
| Other mutations in Cdh18 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00973:Cdh18
|
APN |
15 |
23,173,882 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01663:Cdh18
|
APN |
15 |
23,446,077 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL01758:Cdh18
|
APN |
15 |
23,474,269 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL02192:Cdh18
|
APN |
15 |
23,460,402 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02448:Cdh18
|
APN |
15 |
23,173,875 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02717:Cdh18
|
APN |
15 |
23,410,801 (GRCm39) |
nonsense |
probably null |
|
|
IGL03241:Cdh18
|
APN |
15 |
23,227,019 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL03268:Cdh18
|
APN |
15 |
23,366,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03307:Cdh18
|
APN |
15 |
23,226,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0316:Cdh18
|
UTSW |
15 |
23,366,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0462:Cdh18
|
UTSW |
15 |
23,366,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0607:Cdh18
|
UTSW |
15 |
23,410,876 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0761:Cdh18
|
UTSW |
15 |
23,226,838 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0973:Cdh18
|
UTSW |
15 |
23,474,081 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1110:Cdh18
|
UTSW |
15 |
23,474,403 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1550:Cdh18
|
UTSW |
15 |
23,436,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1656:Cdh18
|
UTSW |
15 |
23,474,485 (GRCm39) |
missense |
probably benign |
0.38 |
|
R1682:Cdh18
|
UTSW |
15 |
23,400,671 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1770:Cdh18
|
UTSW |
15 |
23,474,487 (GRCm39) |
missense |
probably benign |
|
|
R1829:Cdh18
|
UTSW |
15 |
23,173,938 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2253:Cdh18
|
UTSW |
15 |
23,410,891 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2435:Cdh18
|
UTSW |
15 |
23,367,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3914:Cdh18
|
UTSW |
15 |
23,410,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3964:Cdh18
|
UTSW |
15 |
23,474,187 (GRCm39) |
missense |
probably benign |
|
|
R4002:Cdh18
|
UTSW |
15 |
23,383,048 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R4291:Cdh18
|
UTSW |
15 |
22,714,637 (GRCm39) |
intron |
probably benign |
|
|
R4581:Cdh18
|
UTSW |
15 |
23,226,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4604:Cdh18
|
UTSW |
15 |
23,474,454 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4625:Cdh18
|
UTSW |
15 |
22,714,128 (GRCm39) |
intron |
probably benign |
|
|
R4786:Cdh18
|
UTSW |
15 |
23,410,873 (GRCm39) |
missense |
probably null |
1.00 |
|
R4811:Cdh18
|
UTSW |
15 |
23,226,877 (GRCm39) |
missense |
probably benign |
0.30 |
|
R5023:Cdh18
|
UTSW |
15 |
23,259,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5094:Cdh18
|
UTSW |
15 |
22,714,625 (GRCm39) |
intron |
probably benign |
|
|
R5278:Cdh18
|
UTSW |
15 |
23,474,244 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5416:Cdh18
|
UTSW |
15 |
23,226,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5503:Cdh18
|
UTSW |
15 |
23,436,620 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5617:Cdh18
|
UTSW |
15 |
23,226,854 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5982:Cdh18
|
UTSW |
15 |
23,474,302 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6240:Cdh18
|
UTSW |
15 |
23,227,022 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6475:Cdh18
|
UTSW |
15 |
23,227,022 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6649:Cdh18
|
UTSW |
15 |
23,436,620 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6700:Cdh18
|
UTSW |
15 |
23,474,191 (GRCm39) |
missense |
probably benign |
|
|
R6718:Cdh18
|
UTSW |
15 |
23,226,835 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6796:Cdh18
|
UTSW |
15 |
23,446,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7330:Cdh18
|
UTSW |
15 |
23,227,036 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7429:Cdh18
|
UTSW |
15 |
23,366,942 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7477:Cdh18
|
UTSW |
15 |
23,410,811 (GRCm39) |
missense |
probably benign |
|
|
R7516:Cdh18
|
UTSW |
15 |
23,259,684 (GRCm39) |
splice site |
probably null |
|
|
R7519:Cdh18
|
UTSW |
15 |
23,474,298 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7575:Cdh18
|
UTSW |
15 |
23,400,683 (GRCm39) |
nonsense |
probably null |
|
|
R7844:Cdh18
|
UTSW |
15 |
23,410,873 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7870:Cdh18
|
UTSW |
15 |
23,474,413 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8288:Cdh18
|
UTSW |
15 |
23,446,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8420:Cdh18
|
UTSW |
15 |
23,474,138 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8430:Cdh18
|
UTSW |
15 |
23,226,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8916:Cdh18
|
UTSW |
15 |
23,410,813 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9093:Cdh18
|
UTSW |
15 |
23,474,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9183:Cdh18
|
UTSW |
15 |
23,227,065 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9399:Cdh18
|
UTSW |
15 |
23,173,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9531:Cdh18
|
UTSW |
15 |
23,436,562 (GRCm39) |
missense |
probably benign |
|
|
Z1189:Cdh18
|
UTSW |
15 |
23,474,369 (GRCm39) |
missense |
probably benign |
0.17 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTTAAGCCATGGTAATGACG -3'
(R):5'- CCCTTACACATGGCTAATGAAGAG -3'
Sequencing Primer
(F):5'- CTGGCATGTCAATGAAGTGACTC -3'
(R):5'- CACATGGCTAATGAAGAGACATAGC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation