Incidental Mutation 'R0842:Cdhr18'
ID |
77231 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cdhr18
|
Ensembl Gene |
ENSMUSG00000084902 |
Gene Name |
cadherin related family member 18 |
Synonyms |
Gm281, LOC238939 |
MMRRC Submission |
039021-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.067)
|
Stock # |
R0842 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
8555242-8646046 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 13856686 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Leucine
at position 475
(S475L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121887
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000144914]
|
AlphaFold |
D3Z1Y0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000144914
AA Change: S475L
PolyPhen 2
Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000121887 Gene: ENSMUSG00000084902 AA Change: S475L
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 |
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.3%
- 20x: 95.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Angptl8 |
C |
A |
9: 21,746,972 (GRCm39) |
Y53* |
probably null |
Het |
Apbb1ip |
G |
A |
2: 22,757,678 (GRCm39) |
R432Q |
possibly damaging |
Het |
Catsperb |
A |
T |
12: 101,429,307 (GRCm39) |
Q160L |
probably damaging |
Het |
Cilp2 |
T |
C |
8: 70,335,768 (GRCm39) |
Y410C |
probably damaging |
Het |
Cntnap5a |
G |
A |
1: 116,369,953 (GRCm39) |
G857S |
probably damaging |
Het |
D630045J12Rik |
A |
T |
6: 38,125,400 (GRCm39) |
V1538E |
probably damaging |
Het |
Dnah7a |
A |
G |
1: 53,540,833 (GRCm39) |
S2514P |
possibly damaging |
Het |
Eme1 |
C |
T |
11: 94,541,700 (GRCm39) |
A41T |
probably benign |
Het |
F11 |
T |
C |
8: 45,705,196 (GRCm39) |
Y115C |
probably damaging |
Het |
Fap |
A |
T |
2: 62,367,345 (GRCm39) |
W313R |
probably damaging |
Het |
Fcho1 |
C |
T |
8: 72,165,204 (GRCm39) |
A418T |
probably benign |
Het |
Ggt6 |
T |
A |
11: 72,328,088 (GRCm39) |
L158* |
probably null |
Het |
Herc2 |
A |
C |
7: 55,771,453 (GRCm39) |
I1072L |
probably benign |
Het |
Hhat |
T |
C |
1: 192,408,639 (GRCm39) |
N164S |
probably benign |
Het |
Klrb1 |
A |
G |
6: 128,687,008 (GRCm39) |
|
probably null |
Het |
L3mbtl4 |
T |
A |
17: 68,793,957 (GRCm39) |
D320E |
probably benign |
Het |
Lyst |
C |
A |
13: 13,852,826 (GRCm39) |
Y2275* |
probably null |
Het |
Map4k3 |
T |
C |
17: 80,913,412 (GRCm39) |
N611S |
probably benign |
Het |
Morc3 |
T |
C |
16: 93,670,284 (GRCm39) |
|
probably null |
Het |
Mtr |
A |
C |
13: 12,215,133 (GRCm39) |
Y864D |
probably damaging |
Het |
Myh2 |
C |
T |
11: 67,070,350 (GRCm39) |
A431V |
possibly damaging |
Het |
Myo9a |
C |
A |
9: 59,778,350 (GRCm39) |
Q1369K |
probably benign |
Het |
Nalf1 |
T |
A |
8: 9,820,114 (GRCm39) |
D302V |
probably benign |
Het |
Nat3 |
T |
C |
8: 68,000,649 (GRCm39) |
I176T |
probably benign |
Het |
Ncapd3 |
C |
T |
9: 26,948,380 (GRCm39) |
T54I |
probably benign |
Het |
Nfyc |
C |
A |
4: 120,616,574 (GRCm39) |
E281D |
probably benign |
Het |
Nlrp14 |
A |
G |
7: 106,782,342 (GRCm39) |
D513G |
probably benign |
Het |
Pacsin2 |
T |
C |
15: 83,263,382 (GRCm39) |
E83G |
probably damaging |
Het |
Plagl1 |
G |
T |
10: 13,004,298 (GRCm39) |
|
probably benign |
Het |
Pmpcb |
T |
C |
5: 21,953,772 (GRCm39) |
L340P |
possibly damaging |
Het |
Pou2af3 |
T |
C |
9: 51,183,668 (GRCm39) |
E102G |
probably benign |
Het |
Pou2f2 |
A |
T |
7: 24,796,355 (GRCm39) |
L364Q |
probably damaging |
Het |
Rab1b |
A |
T |
19: 5,154,697 (GRCm39) |
I84N |
probably damaging |
Het |
Ric3 |
T |
C |
7: 108,638,087 (GRCm39) |
Y222C |
probably damaging |
Het |
Samhd1 |
A |
G |
2: 156,965,251 (GRCm39) |
V188A |
probably damaging |
Het |
Socs4 |
T |
A |
14: 47,527,426 (GRCm39) |
H107Q |
probably damaging |
Het |
Tex15 |
T |
A |
8: 34,061,575 (GRCm39) |
I335K |
possibly damaging |
Het |
Thoc2l |
T |
A |
5: 104,667,066 (GRCm39) |
N529K |
possibly damaging |
Het |
Thop1 |
C |
A |
10: 80,911,411 (GRCm39) |
T99K |
probably damaging |
Het |
Tnik |
A |
G |
3: 28,648,235 (GRCm39) |
E429G |
possibly damaging |
Het |
Vmn2r106 |
T |
A |
17: 20,488,465 (GRCm39) |
I645F |
probably damaging |
Het |
Zscan29 |
T |
A |
2: 120,991,960 (GRCm39) |
R609S |
possibly damaging |
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 |
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 |
R2324:Cdhr18
|
UTSW |
14 |
13,868,077 (GRCm38) |
missense |
probably damaging |
1.00 |
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'- GAGCATTGCCAGTAAAGAGAAACTCCT -3'
(R):5'- TGTGGAAACACCAATCATTTGGAGGT -3'
Sequencing Primer
(F):5'- TCTGAAGGTGTTATGTCCAACCAC -3'
(R):5'- aacacCAATCATTTGGAGGTAGAAAG -3'
|
Posted On |
2013-10-16 |