Incidental Mutation 'R1649:Jcad'
| ID |
174137 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Jcad
|
| Ensembl Gene |
ENSMUSG00000033960 |
| Gene Name |
junctional cadherin 5 associated |
| Synonyms |
9430020K01Rik |
| MMRRC Submission |
039685-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1649 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
4634878-4682869 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 4673309 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Glutamine
at position 357
(P357Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038613
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037029]
|
| AlphaFold |
Q5DTX6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037029
AA Change: P357Q
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000038613
Gene: ENSMUSG00000033960
AA Change: P357Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:JCAD
|
1 |
1309 |
N/A |
PFAM |
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.0%
- 20x: 88.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1a1 |
T |
A |
4: 116,495,217 (GRCm39) |
I261F |
probably damaging |
Het |
| Aldh1l1 |
T |
C |
6: 90,541,371 (GRCm39) |
V255A |
probably benign |
Het |
| Ambn |
T |
A |
5: 88,612,340 (GRCm39) |
M172K |
probably benign |
Het |
| Arhgef18 |
A |
G |
8: 3,439,094 (GRCm39) |
|
probably benign |
Het |
| BC034090 |
T |
C |
1: 155,101,319 (GRCm39) |
H315R |
possibly damaging |
Het |
| Btaf1 |
T |
A |
19: 36,959,122 (GRCm39) |
D707E |
probably benign |
Het |
| C6 |
T |
C |
15: 4,764,739 (GRCm39) |
L145P |
possibly damaging |
Het |
| Cav3 |
T |
A |
6: 112,449,207 (GRCm39) |
L75Q |
probably damaging |
Het |
| Cavin2 |
T |
A |
1: 51,339,939 (GRCm39) |
D205E |
probably benign |
Het |
| Cdadc1 |
T |
C |
14: 59,811,242 (GRCm39) |
T423A |
probably damaging |
Het |
| Cep120 |
A |
T |
18: 53,857,648 (GRCm39) |
H272Q |
probably damaging |
Het |
| Chd9 |
A |
T |
8: 91,659,229 (GRCm39) |
Q63L |
possibly damaging |
Het |
| Clspn |
T |
C |
4: 126,460,228 (GRCm39) |
|
probably benign |
Het |
| Cramp1 |
G |
T |
17: 25,202,217 (GRCm39) |
H422N |
probably damaging |
Het |
| Csn1s2b |
A |
T |
5: 87,966,943 (GRCm39) |
M71L |
probably benign |
Het |
| D630045J12Rik |
C |
A |
6: 38,158,366 (GRCm39) |
A1104S |
probably damaging |
Het |
| D930048N14Rik |
A |
G |
11: 51,545,663 (GRCm39) |
|
probably benign |
Het |
| Ern2 |
G |
A |
7: 121,776,623 (GRCm39) |
P366S |
probably damaging |
Het |
| Gm1527 |
T |
C |
3: 28,952,880 (GRCm39) |
I60T |
probably damaging |
Het |
| Gse1 |
T |
C |
8: 121,305,254 (GRCm39) |
|
probably benign |
Het |
| Ildr1 |
T |
C |
16: 36,528,681 (GRCm39) |
L42P |
probably damaging |
Het |
| Itih2 |
G |
A |
2: 10,110,546 (GRCm39) |
T515I |
probably benign |
Het |
| Kitl |
A |
G |
10: 99,899,976 (GRCm39) |
T94A |
probably benign |
Het |
| Klri1 |
C |
T |
6: 129,675,204 (GRCm39) |
M185I |
probably benign |
Het |
| Lsamp |
A |
T |
16: 41,775,661 (GRCm39) |
M171L |
probably benign |
Het |
| Macf1 |
T |
G |
4: 123,377,846 (GRCm39) |
I1460L |
probably damaging |
Het |
| Map1b |
C |
G |
13: 99,652,986 (GRCm39) |
V4L |
probably benign |
Het |
| Mboat7 |
A |
T |
7: 3,688,817 (GRCm39) |
V237D |
probably benign |
Het |
| Mctp2 |
A |
T |
7: 71,811,006 (GRCm39) |
I656K |
probably damaging |
Het |
| Ms4a6b |
A |
G |
19: 11,497,806 (GRCm39) |
D35G |
possibly damaging |
Het |
| Nipsnap2 |
T |
A |
5: 129,830,301 (GRCm39) |
I205N |
probably damaging |
Het |
| Nsd2 |
T |
C |
5: 34,011,984 (GRCm39) |
V264A |
probably damaging |
Het |
| Oacyl |
C |
T |
18: 65,883,167 (GRCm39) |
T582I |
probably damaging |
Het |
| Olfm1 |
A |
T |
2: 28,119,279 (GRCm39) |
T333S |
possibly damaging |
Het |
| Olfm4 |
G |
A |
14: 80,249,422 (GRCm39) |
E180K |
probably damaging |
Het |
| Or14j6 |
T |
C |
17: 38,215,060 (GRCm39) |
F208L |
probably benign |
Het |
| Or2ad1 |
A |
T |
13: 21,326,912 (GRCm39) |
L105Q |
probably damaging |
Het |
| Or8g17 |
T |
G |
9: 38,930,776 (GRCm39) |
Q20H |
probably benign |
Het |
| Parp4 |
T |
A |
14: 56,827,885 (GRCm39) |
V212E |
possibly damaging |
Het |
| Pcdhb21 |
T |
A |
18: 37,648,666 (GRCm39) |
N598K |
probably damaging |
Het |
| Piezo2 |
C |
A |
18: 63,250,743 (GRCm39) |
W452L |
probably benign |
Het |
| Plec |
C |
A |
15: 76,090,011 (GRCm39) |
A110S |
possibly damaging |
Het |
| Popdc3 |
T |
C |
10: 45,191,320 (GRCm39) |
Y144H |
probably damaging |
Het |
| Ptgdr |
T |
C |
14: 45,095,959 (GRCm39) |
H251R |
probably benign |
Het |
| Ptpro |
T |
A |
6: 137,421,015 (GRCm39) |
Y246* |
probably null |
Het |
| Pyroxd2 |
T |
C |
19: 42,726,573 (GRCm39) |
D247G |
probably damaging |
Het |
| Robo2 |
T |
C |
16: 73,695,889 (GRCm39) |
E1418G |
probably benign |
Het |
| Rtp3 |
T |
C |
9: 110,815,772 (GRCm39) |
T198A |
probably benign |
Het |
| Sec16a |
A |
T |
2: 26,315,536 (GRCm39) |
V1767D |
probably damaging |
Het |
| Septin14 |
T |
C |
5: 129,774,819 (GRCm39) |
N119D |
probably benign |
Het |
| Serpina5 |
A |
T |
12: 104,071,484 (GRCm39) |
T364S |
possibly damaging |
Het |
| Setd2 |
A |
G |
9: 110,378,932 (GRCm39) |
S632G |
probably benign |
Het |
| Sh3bp2 |
C |
T |
5: 34,716,348 (GRCm39) |
A253V |
possibly damaging |
Het |
| Slc6a5 |
G |
T |
7: 49,586,010 (GRCm39) |
G443C |
probably damaging |
Het |
| Spag9 |
T |
A |
11: 93,999,278 (GRCm39) |
|
probably null |
Het |
| Sptbn1 |
T |
C |
11: 30,087,301 (GRCm39) |
E1033G |
probably damaging |
Het |
| Timm17a |
T |
G |
1: 135,237,540 (GRCm39) |
Q39P |
probably damaging |
Het |
| Tmem26 |
A |
T |
10: 68,587,103 (GRCm39) |
T184S |
probably damaging |
Het |
| Tpi1 |
A |
T |
6: 124,789,891 (GRCm39) |
|
probably null |
Het |
| Tssk5 |
T |
C |
15: 76,258,003 (GRCm39) |
Y118C |
possibly damaging |
Het |
| Ttll4 |
T |
A |
1: 74,736,629 (GRCm39) |
L1118Q |
possibly damaging |
Het |
| Ttll5 |
T |
A |
12: 85,969,788 (GRCm39) |
L691Q |
probably damaging |
Het |
| Vmn1r49 |
A |
T |
6: 90,049,623 (GRCm39) |
H126Q |
possibly damaging |
Het |
| Zfp518b |
A |
T |
5: 38,829,224 (GRCm39) |
V927E |
probably damaging |
Het |
| Zfp618 |
T |
C |
4: 63,013,774 (GRCm39) |
F213S |
probably damaging |
Het |
| Zfp759 |
T |
A |
13: 67,287,668 (GRCm39) |
N406K |
probably benign |
Het |
|
| Other mutations in Jcad |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00650:Jcad
|
APN |
18 |
4,675,692 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL00672:Jcad
|
APN |
18 |
4,674,835 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL00782:Jcad
|
APN |
18 |
4,675,073 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00825:Jcad
|
APN |
18 |
4,673,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01522:Jcad
|
APN |
18 |
4,673,312 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01796:Jcad
|
APN |
18 |
4,672,855 (GRCm39) |
nonsense |
probably null |
|
|
IGL01973:Jcad
|
APN |
18 |
4,675,514 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL02083:Jcad
|
APN |
18 |
4,680,266 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02625:Jcad
|
APN |
18 |
4,674,422 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03002:Jcad
|
APN |
18 |
4,675,153 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03325:Jcad
|
APN |
18 |
4,673,902 (GRCm39) |
missense |
probably benign |
|
|
R0304:Jcad
|
UTSW |
18 |
4,673,325 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R0487:Jcad
|
UTSW |
18 |
4,673,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0519:Jcad
|
UTSW |
18 |
4,649,122 (GRCm39) |
start gained |
probably benign |
|
|
R0664:Jcad
|
UTSW |
18 |
4,676,063 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1710:Jcad
|
UTSW |
18 |
4,674,511 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1734:Jcad
|
UTSW |
18 |
4,674,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1823:Jcad
|
UTSW |
18 |
4,675,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1824:Jcad
|
UTSW |
18 |
4,649,293 (GRCm39) |
missense |
probably benign |
|
|
R1850:Jcad
|
UTSW |
18 |
4,675,730 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1872:Jcad
|
UTSW |
18 |
4,673,048 (GRCm39) |
missense |
probably benign |
|
|
R1878:Jcad
|
UTSW |
18 |
4,673,857 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R1918:Jcad
|
UTSW |
18 |
4,674,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1967:Jcad
|
UTSW |
18 |
4,675,162 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2420:Jcad
|
UTSW |
18 |
4,675,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2504:Jcad
|
UTSW |
18 |
4,674,026 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2936:Jcad
|
UTSW |
18 |
4,675,153 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4420:Jcad
|
UTSW |
18 |
4,676,032 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4668:Jcad
|
UTSW |
18 |
4,680,221 (GRCm39) |
splice site |
probably null |
|
|
R4670:Jcad
|
UTSW |
18 |
4,674,175 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4671:Jcad
|
UTSW |
18 |
4,674,175 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4707:Jcad
|
UTSW |
18 |
4,649,338 (GRCm39) |
nonsense |
probably null |
|
|
R4720:Jcad
|
UTSW |
18 |
4,674,055 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4815:Jcad
|
UTSW |
18 |
4,675,223 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4906:Jcad
|
UTSW |
18 |
4,673,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5214:Jcad
|
UTSW |
18 |
4,674,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5439:Jcad
|
UTSW |
18 |
4,675,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5563:Jcad
|
UTSW |
18 |
4,673,944 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5721:Jcad
|
UTSW |
18 |
4,676,044 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R5825:Jcad
|
UTSW |
18 |
4,674,896 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5952:Jcad
|
UTSW |
18 |
4,674,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6661:Jcad
|
UTSW |
18 |
4,675,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6928:Jcad
|
UTSW |
18 |
4,673,372 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7426:Jcad
|
UTSW |
18 |
4,675,529 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7808:Jcad
|
UTSW |
18 |
4,673,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7943:Jcad
|
UTSW |
18 |
4,672,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8010:Jcad
|
UTSW |
18 |
4,674,581 (GRCm39) |
missense |
probably benign |
|
|
R8080:Jcad
|
UTSW |
18 |
4,649,270 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8133:Jcad
|
UTSW |
18 |
4,649,384 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8168:Jcad
|
UTSW |
18 |
4,675,094 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8232:Jcad
|
UTSW |
18 |
4,674,862 (GRCm39) |
missense |
probably benign |
0.23 |
|
R8276:Jcad
|
UTSW |
18 |
4,674,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8408:Jcad
|
UTSW |
18 |
4,649,402 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R9173:Jcad
|
UTSW |
18 |
4,675,820 (GRCm39) |
missense |
probably benign |
0.42 |
|
R9415:Jcad
|
UTSW |
18 |
4,673,912 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9571:Jcad
|
UTSW |
18 |
4,673,252 (GRCm39) |
nonsense |
probably null |
|
|
T0722:Jcad
|
UTSW |
18 |
4,675,531 (GRCm39) |
missense |
probably benign |
0.25 |
|
X0017:Jcad
|
UTSW |
18 |
4,676,044 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGATTTCAGGACCACCAGCACAG -3'
(R):5'- TACCGAAGGGGCATCATCGTACTG -3'
Sequencing Primer
(F):5'- CAGCACAGGGACCCACG -3'
(R):5'- TGGAATGTACTGAATAGAACCCC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation