Incidental Mutation 'R1188:Jam2'
| ID |
102395 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Jam2
|
| Ensembl Gene |
ENSMUSG00000053062 |
| Gene Name |
junction adhesion molecule 2 |
| Synonyms |
JAM-2, 2410030G21Rik, Jcam2, 2410167M24Rik, VE-JAM |
| MMRRC Submission |
039260-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1188 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
84571011-84622816 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 84603755 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 81
(T81A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156235
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098407]
[ENSMUST00000114195]
[ENSMUST00000231910]
|
| AlphaFold |
Q9JI59 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000098407
AA Change: T57A
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000096007
Gene: ENSMUSG00000053062
AA Change: T57A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
IG
|
36 |
132 |
7.7e-5 |
SMART |
|
low complexity region
|
170 |
180 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114195
AA Change: T57A
PolyPhen 2
Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000109833
Gene: ENSMUSG00000053062
AA Change: T57A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
IG
|
36 |
132 |
7.7e-5 |
SMART |
|
IGc2
|
147 |
221 |
1.06e-11 |
SMART |
|
low complexity region
|
240 |
253 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138054
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000231910
AA Change: T81A
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.0%
- 20x: 88.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the immunoglobulin superfamily, and the junctional adhesion molecule (JAM) family. The protein encoded by this gene is a type I membrane protein that is localized at the tight junctions of both epithelial and endothelial cells. It acts as an adhesive ligand for interacting with a variety of immune cell types, and may play a role in lymphocyte homing to secondary lymphoid organs. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and overtly normal with no detectable spermatogenesis abnormalities or defects in embryonic, neural and hematopoietic stem cell properties. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130230L23Rik |
T |
C |
5: 66,147,741 (GRCm39) |
Y14C |
unknown |
Het |
| Afap1l2 |
T |
C |
19: 56,913,501 (GRCm39) |
K312E |
probably damaging |
Het |
| Amigo2 |
T |
A |
15: 97,143,594 (GRCm39) |
E276V |
probably benign |
Het |
| Atf2 |
A |
G |
2: 73,675,881 (GRCm39) |
F114L |
probably damaging |
Het |
| Avpr1a |
G |
T |
10: 122,284,824 (GRCm39) |
G39C |
possibly damaging |
Het |
| Ccpg1 |
A |
G |
9: 72,919,788 (GRCm39) |
R468G |
possibly damaging |
Het |
| Celf6 |
G |
T |
9: 59,497,961 (GRCm39) |
R130L |
probably benign |
Het |
| Dsp |
T |
C |
13: 38,378,939 (GRCm39) |
S1296P |
probably damaging |
Het |
| Fnip2 |
C |
T |
3: 79,369,469 (GRCm39) |
R1072H |
probably damaging |
Het |
| Fsip2 |
G |
T |
2: 82,805,361 (GRCm39) |
C560F |
possibly damaging |
Het |
| Get3 |
A |
G |
8: 85,746,422 (GRCm39) |
I142T |
probably damaging |
Het |
| Gpr20 |
A |
C |
15: 73,567,617 (GRCm39) |
H257Q |
probably damaging |
Het |
| Gys2 |
T |
A |
6: 142,400,909 (GRCm39) |
H297L |
probably damaging |
Het |
| Habp2 |
G |
A |
19: 56,300,154 (GRCm39) |
S201N |
probably benign |
Het |
| Hars2 |
T |
C |
18: 36,921,022 (GRCm39) |
I198T |
probably damaging |
Het |
| Jag2 |
G |
A |
12: 112,883,741 (GRCm39) |
Q247* |
probably null |
Het |
| Mrps26 |
G |
A |
2: 130,406,301 (GRCm39) |
E145K |
probably damaging |
Het |
| Nup210l |
T |
C |
3: 90,105,486 (GRCm39) |
F1545L |
probably benign |
Het |
| Or10d4c |
A |
G |
9: 39,558,772 (GRCm39) |
Y250C |
probably damaging |
Het |
| Pikfyve |
T |
A |
1: 65,286,118 (GRCm39) |
V1074D |
possibly damaging |
Het |
| Prkag1 |
T |
A |
15: 98,712,479 (GRCm39) |
I118F |
probably damaging |
Het |
| R3hdm2 |
G |
A |
10: 127,288,624 (GRCm39) |
V91I |
probably benign |
Het |
| Rnf168 |
T |
C |
16: 32,117,477 (GRCm39) |
V346A |
probably benign |
Het |
| Slc17a7 |
T |
C |
7: 44,819,311 (GRCm39) |
V129A |
possibly damaging |
Het |
| Snai3 |
T |
A |
8: 123,181,701 (GRCm39) |
Q252L |
probably damaging |
Het |
| Snx17 |
T |
C |
5: 31,353,166 (GRCm39) |
V133A |
probably benign |
Het |
| Stt3a |
A |
G |
9: 36,662,636 (GRCm39) |
S59P |
probably damaging |
Het |
| Sun1 |
C |
T |
5: 139,224,611 (GRCm39) |
R546C |
probably damaging |
Het |
| Thsd4 |
T |
A |
9: 60,301,689 (GRCm39) |
Q202L |
probably benign |
Het |
| Tnrc6b |
A |
G |
15: 80,763,430 (GRCm39) |
T311A |
probably benign |
Het |
| Tshr |
T |
A |
12: 91,468,942 (GRCm39) |
D18E |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,619,773 (GRCm39) |
L15965Q |
probably damaging |
Het |
| Wnk1 |
C |
A |
6: 119,925,670 (GRCm39) |
E1265* |
probably null |
Het |
| Zbtb39 |
C |
G |
10: 127,578,175 (GRCm39) |
Q250E |
probably benign |
Het |
|
| Other mutations in Jam2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00568:Jam2
|
APN |
16 |
84,619,712 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL00805:Jam2
|
APN |
16 |
84,612,054 (GRCm39) |
splice site |
probably benign |
|
|
R0834:Jam2
|
UTSW |
16 |
84,609,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4230:Jam2
|
UTSW |
16 |
84,618,180 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4323:Jam2
|
UTSW |
16 |
84,619,744 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4659:Jam2
|
UTSW |
16 |
84,609,840 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4660:Jam2
|
UTSW |
16 |
84,609,840 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4662:Jam2
|
UTSW |
16 |
84,609,840 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4679:Jam2
|
UTSW |
16 |
84,609,840 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4741:Jam2
|
UTSW |
16 |
84,609,840 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4856:Jam2
|
UTSW |
16 |
84,598,490 (GRCm39) |
missense |
probably benign |
0.39 |
|
R4929:Jam2
|
UTSW |
16 |
84,619,750 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4961:Jam2
|
UTSW |
16 |
84,606,435 (GRCm39) |
nonsense |
probably null |
|
|
R5915:Jam2
|
UTSW |
16 |
84,606,295 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7779:Jam2
|
UTSW |
16 |
84,606,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8790:Jam2
|
UTSW |
16 |
84,606,259 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9488:Jam2
|
UTSW |
16 |
84,619,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9640:Jam2
|
UTSW |
16 |
84,609,960 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9785:Jam2
|
UTSW |
16 |
84,571,397 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGAGCCGTCATGCTCCCAATTC -3'
(R):5'- TGTTAAGCGAGCAATGGTCCCAG -3'
Sequencing Primer
(F):5'- CCCTACAGACATGATGTACTTATGC -3'
(R):5'- AGGGGACCTCACCTTTTTCG -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation