Incidental Mutation 'R2324:Cdhr18'
ID |
244859 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cdhr18
|
Ensembl Gene |
ENSMUSG00000084902 |
Gene Name |
cadherin related family member 18 |
Synonyms |
Gm281, LOC238939 |
MMRRC Submission |
040315-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.067)
|
Stock # |
R2324 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
8555242-8646046 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 13868077 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 204
(I204N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121887
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000144914]
|
AlphaFold |
D3Z1Y0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000144914
AA Change: I204N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000121887 Gene: ENSMUSG00000084902 AA Change: I204N
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
CA
|
32 |
127 |
3.45e-2 |
SMART |
CA
|
156 |
230 |
7.87e-9 |
SMART |
CA
|
274 |
352 |
1.36e-3 |
SMART |
CA
|
376 |
470 |
6.99e-3 |
SMART |
CA
|
492 |
563 |
8.69e-11 |
SMART |
CA
|
589 |
683 |
2.09e-1 |
SMART |
transmembrane domain
|
705 |
727 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157171
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
Validation Efficiency |
100% (33/33) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akna |
T |
C |
4: 63,290,039 (GRCm39) |
D1223G |
possibly damaging |
Het |
Ankrd42 |
C |
A |
7: 92,273,186 (GRCm39) |
R147L |
probably damaging |
Het |
Cep152 |
T |
C |
2: 125,405,382 (GRCm39) |
I1717V |
probably benign |
Het |
Clca3a2 |
A |
G |
3: 144,512,041 (GRCm39) |
|
probably null |
Het |
Coa8 |
A |
G |
12: 111,690,784 (GRCm39) |
E112G |
possibly damaging |
Het |
Dnhd1 |
A |
T |
7: 105,359,297 (GRCm39) |
H3544L |
probably damaging |
Het |
Dpy19l4 |
T |
C |
4: 11,276,857 (GRCm39) |
|
probably benign |
Het |
Efcab8 |
A |
G |
2: 153,625,729 (GRCm39) |
|
probably null |
Het |
Esyt2 |
A |
G |
12: 116,331,441 (GRCm39) |
N773S |
possibly damaging |
Het |
Hectd4 |
G |
A |
5: 121,453,500 (GRCm39) |
G613D |
probably damaging |
Het |
Ints12 |
G |
A |
3: 132,815,126 (GRCm39) |
M444I |
possibly damaging |
Het |
Ints3 |
A |
G |
3: 90,301,401 (GRCm39) |
L827P |
probably damaging |
Het |
Irf9 |
T |
C |
14: 55,843,367 (GRCm39) |
|
probably null |
Het |
Lactb2 |
T |
C |
1: 13,708,520 (GRCm39) |
D176G |
probably damaging |
Het |
Lmntd2 |
A |
T |
7: 140,790,701 (GRCm39) |
S516T |
possibly damaging |
Het |
Lrp1 |
C |
A |
10: 127,402,455 (GRCm39) |
A2239S |
possibly damaging |
Het |
Lrrc56 |
A |
G |
7: 140,785,476 (GRCm39) |
|
probably benign |
Het |
Nfic |
A |
G |
10: 81,241,921 (GRCm39) |
|
probably null |
Het |
Notch3 |
G |
A |
17: 32,369,108 (GRCm39) |
|
probably benign |
Het |
Oas2 |
T |
C |
5: 120,881,339 (GRCm39) |
K251E |
probably benign |
Het |
Or5k15 |
T |
C |
16: 58,710,503 (GRCm39) |
T27A |
probably benign |
Het |
Pabpc4 |
T |
C |
4: 123,191,571 (GRCm39) |
|
probably benign |
Het |
Piwil4 |
C |
T |
9: 14,648,204 (GRCm39) |
R125H |
possibly damaging |
Het |
Rbsn |
A |
G |
6: 92,170,947 (GRCm39) |
Y325H |
probably damaging |
Het |
Rhox2e |
C |
A |
X: 36,712,516 (GRCm39) |
P69Q |
probably damaging |
Het |
Skint6 |
T |
C |
4: 112,729,654 (GRCm39) |
|
probably null |
Het |
Tmem165 |
T |
C |
5: 76,352,671 (GRCm39) |
|
probably benign |
Het |
Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
Ttc13 |
A |
G |
8: 125,405,796 (GRCm39) |
V499A |
probably damaging |
Het |
Vax2 |
G |
T |
6: 83,688,307 (GRCm39) |
R10L |
possibly damaging |
Het |
Zfp988 |
A |
C |
4: 147,417,242 (GRCm39) |
K559Q |
probably benign |
Het |
|
Other mutations in Cdhr18 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0115:Cdhr18
|
UTSW |
14 |
13,899,571 (GRCm38) |
missense |
probably damaging |
0.99 |
R0842:Cdhr18
|
UTSW |
14 |
13,856,686 (GRCm38) |
missense |
probably benign |
0.16 |
R1252:Cdhr18
|
UTSW |
14 |
13,862,444 (GRCm38) |
missense |
probably benign |
0.00 |
R1275:Cdhr18
|
UTSW |
14 |
13,896,949 (GRCm38) |
missense |
probably damaging |
1.00 |
R1631:Cdhr18
|
UTSW |
14 |
13,829,796 (GRCm38) |
missense |
probably damaging |
0.99 |
R1831:Cdhr18
|
UTSW |
14 |
13,899,619 (GRCm38) |
missense |
probably damaging |
1.00 |
R1885:Cdhr18
|
UTSW |
14 |
13,828,607 (GRCm38) |
missense |
probably damaging |
1.00 |
R1886:Cdhr18
|
UTSW |
14 |
13,828,607 (GRCm38) |
missense |
probably damaging |
1.00 |
R1887:Cdhr18
|
UTSW |
14 |
13,828,607 (GRCm38) |
missense |
probably damaging |
1.00 |
R1903:Cdhr18
|
UTSW |
14 |
13,829,657 (GRCm38) |
missense |
possibly damaging |
0.94 |
R1940:Cdhr18
|
UTSW |
14 |
13,828,582 (GRCm38) |
missense |
probably null |
0.95 |
R3923:Cdhr18
|
UTSW |
14 |
13,865,990 (GRCm38) |
nonsense |
probably null |
|
R4193:Cdhr18
|
UTSW |
14 |
13,914,416 (GRCm38) |
missense |
probably benign |
0.02 |
R4195:Cdhr18
|
UTSW |
14 |
13,829,772 (GRCm38) |
missense |
probably benign |
0.05 |
R4370:Cdhr18
|
UTSW |
14 |
13,862,375 (GRCm38) |
missense |
probably benign |
0.03 |
R4675:Cdhr18
|
UTSW |
14 |
13,856,724 (GRCm38) |
missense |
probably benign |
0.32 |
R4734:Cdhr18
|
UTSW |
14 |
13,845,292 (GRCm38) |
missense |
probably benign |
0.13 |
R5387:Cdhr18
|
UTSW |
14 |
13,914,438 (GRCm38) |
start codon destroyed |
probably null |
0.82 |
R6037:Cdhr18
|
UTSW |
14 |
13,864,282 (GRCm38) |
missense |
probably damaging |
1.00 |
R6037:Cdhr18
|
UTSW |
14 |
13,864,282 (GRCm38) |
missense |
probably damaging |
1.00 |
R6177:Cdhr18
|
UTSW |
14 |
13,868,002 (GRCm38) |
missense |
probably benign |
0.08 |
R7051:Cdhr18
|
UTSW |
14 |
13,828,486 (GRCm38) |
missense |
|
|
R7205:Cdhr18
|
UTSW |
14 |
13,866,032 (GRCm38) |
missense |
|
|
R7258:Cdhr18
|
UTSW |
14 |
13,899,648 (GRCm38) |
missense |
|
|
R7833:Cdhr18
|
UTSW |
14 |
13,896,968 (GRCm38) |
splice site |
probably null |
|
R8309:Cdhr18
|
UTSW |
14 |
13,814,954 (GRCm38) |
nonsense |
probably null |
|
R8911:Cdhr18
|
UTSW |
14 |
13,823,796 (GRCm38) |
critical splice acceptor site |
probably null |
|
R9124:Cdhr18
|
UTSW |
14 |
13,864,354 (GRCm38) |
missense |
|
|
R9458:Cdhr18
|
UTSW |
14 |
13,856,709 (GRCm38) |
missense |
|
|
R9594:Cdhr18
|
UTSW |
14 |
13,814,959 (GRCm38) |
missense |
unknown |
|
Z1177:Cdhr18
|
UTSW |
14 |
13,845,421 (GRCm38) |
missense |
|
|
Z1177:Cdhr18
|
UTSW |
14 |
13,823,754 (GRCm38) |
missense |
|
|
|
Predicted Primers |
PCR Primer
(F):5'- GCTTGCTAAATTGCTTCATTCTCAG -3'
(R):5'- GCTAAGGAATTTCCATATCCTTCCATC -3'
Sequencing Primer
(F):5'- AAATTGCTTCATTCTCAGCTAAAAAG -3'
(R):5'- ATATCCTTCCATCCCCCTTTTATAGG -3'
|
Posted On |
2014-10-30 |