Incidental Mutation 'R1252:Cdhr18'
ID |
151813 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cdhr18
|
Ensembl Gene |
ENSMUSG00000084902 |
Gene Name |
cadherin related family member 18 |
Synonyms |
Gm281, LOC238939 |
MMRRC Submission |
039319-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.067)
|
Stock # |
R1252 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
8555242-8646046 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 13862444 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 370
(D370G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121887
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000144914]
|
AlphaFold |
D3Z1Y0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000144914
AA Change: D370G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000121887 Gene: ENSMUSG00000084902 AA Change: D370G
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: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb10 |
C |
T |
8: 124,688,791 (GRCm39) |
G495D |
probably damaging |
Het |
Acsm2 |
C |
T |
7: 119,172,468 (GRCm39) |
H104Y |
probably benign |
Het |
Adgrb3 |
G |
A |
1: 25,167,909 (GRCm39) |
T1009M |
probably damaging |
Het |
Arfgef2 |
A |
G |
2: 166,701,877 (GRCm39) |
K755E |
probably damaging |
Het |
Atm |
A |
T |
9: 53,367,140 (GRCm39) |
D2491E |
probably damaging |
Het |
Bptf |
A |
G |
11: 106,964,077 (GRCm39) |
S1706P |
probably benign |
Het |
Capn13 |
C |
T |
17: 73,674,222 (GRCm39) |
G77D |
possibly damaging |
Het |
Ccdc39 |
T |
C |
3: 33,880,629 (GRCm39) |
K446R |
probably damaging |
Het |
Cep135 |
A |
G |
5: 76,741,962 (GRCm39) |
K133E |
possibly damaging |
Het |
Cyp2c67 |
A |
G |
19: 39,614,585 (GRCm39) |
M314T |
possibly damaging |
Het |
Dennd5b |
T |
C |
6: 148,945,985 (GRCm39) |
D542G |
probably damaging |
Het |
Dpys |
A |
T |
15: 39,687,636 (GRCm39) |
N387K |
probably damaging |
Het |
Erc1 |
A |
T |
6: 119,720,353 (GRCm39) |
D749E |
possibly damaging |
Het |
Gucy2e |
A |
T |
11: 69,126,485 (GRCm39) |
F298L |
probably benign |
Het |
Igsf10 |
A |
G |
3: 59,239,269 (GRCm39) |
V304A |
probably benign |
Het |
Kmt2b |
A |
T |
7: 30,279,912 (GRCm39) |
C1363S |
probably damaging |
Het |
Krt87 |
A |
G |
15: 101,385,711 (GRCm39) |
Y295H |
probably damaging |
Het |
Lmo7 |
T |
C |
14: 102,138,019 (GRCm39) |
V396A |
probably damaging |
Het |
Lpl |
A |
G |
8: 69,345,311 (GRCm39) |
D105G |
probably benign |
Het |
Lrrc45 |
C |
A |
11: 120,606,297 (GRCm39) |
T135N |
probably benign |
Het |
Ltn1 |
C |
T |
16: 87,212,918 (GRCm39) |
A548T |
probably benign |
Het |
Nectin2 |
T |
G |
7: 19,451,523 (GRCm39) |
I504L |
probably benign |
Het |
Nmbr |
T |
C |
10: 14,636,187 (GRCm39) |
I52T |
probably benign |
Het |
Nop14 |
A |
T |
5: 34,807,899 (GRCm39) |
N354K |
probably benign |
Het |
Olfm1 |
A |
G |
2: 28,119,447 (GRCm39) |
I361V |
probably benign |
Het |
Or8g18 |
G |
C |
9: 39,149,547 (GRCm39) |
P58A |
probably benign |
Het |
Ovol1 |
T |
C |
19: 5,603,629 (GRCm39) |
T91A |
probably benign |
Het |
Pigz |
T |
A |
16: 31,760,808 (GRCm39) |
V3E |
possibly damaging |
Het |
Pip4k2b |
T |
C |
11: 97,635,420 (GRCm39) |
N4S |
probably benign |
Het |
Slc23a2 |
A |
T |
2: 131,904,117 (GRCm39) |
|
probably null |
Het |
Slc66a2 |
A |
G |
18: 80,334,813 (GRCm39) |
T211A |
possibly damaging |
Het |
Speg |
A |
T |
1: 75,403,739 (GRCm39) |
D2640V |
probably damaging |
Het |
Trip12 |
G |
A |
1: 84,754,071 (GRCm39) |
Q111* |
probably null |
Het |
Trub2 |
A |
G |
2: 29,672,170 (GRCm39) |
F141S |
probably damaging |
Het |
Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
Wdfy4 |
A |
T |
14: 32,693,729 (GRCm39) |
|
probably null |
Het |
Zfp935 |
A |
G |
13: 62,602,355 (GRCm39) |
F282L |
probably damaging |
Het |
Zfp946 |
G |
T |
17: 22,672,560 (GRCm39) |
|
probably null |
Het |
Zkscan4 |
A |
G |
13: 21,668,044 (GRCm39) |
E165G |
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 |
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'- AGCATTCCAAGTGCCTTCTGGTATG -3'
(R):5'- TGCTCTAAGGAAGACCTGTCTGCTC -3'
Sequencing Primer
(F):5'- AAGTGCCTTCTGGTATGACAGC -3'
(R):5'- TGCTCCAGGATTATCAAGGC -3'
|
Posted On |
2014-01-29 |