Incidental Mutation 'R4323:Jam2'
ID |
323928 |
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 |
041094-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4323 (G1)
|
Quality Score |
222 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
84571011-84622816 bp(+) (GRCm39) |
Type of Mutation |
utr 3 prime |
DNA Base Change (assembly) |
T to C
at 84619744 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000156235
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114195]
[ENSMUST00000231910]
|
AlphaFold |
Q9JI59 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000114195
|
SMART Domains |
Protein: ENSMUSP00000109833 Gene: ENSMUSG00000053062
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 |
noncoding transcript
Transcript: ENSMUST00000157624
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231910
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
Validation Efficiency |
95% (59/62) |
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933430I17Rik |
A |
G |
4: 62,465,548 (GRCm39) |
Y414C |
probably damaging |
Het |
Akr1b1 |
T |
C |
6: 34,287,862 (GRCm39) |
T166A |
probably benign |
Het |
Ankhd1 |
C |
T |
18: 36,711,686 (GRCm39) |
S94L |
probably damaging |
Het |
B4galt3 |
G |
T |
1: 171,103,515 (GRCm39) |
M68I |
possibly damaging |
Het |
Bpnt1 |
A |
C |
1: 185,088,786 (GRCm39) |
H312P |
probably benign |
Het |
Ccdc178 |
T |
A |
18: 22,166,600 (GRCm39) |
K530* |
probably null |
Het |
Ccdc191 |
A |
G |
16: 43,767,872 (GRCm39) |
E624G |
probably damaging |
Het |
Clasp2 |
T |
C |
9: 113,719,027 (GRCm39) |
V724A |
possibly damaging |
Het |
Copa |
G |
T |
1: 171,946,831 (GRCm39) |
C1022F |
probably damaging |
Het |
Cwf19l2 |
T |
G |
9: 3,430,452 (GRCm39) |
F261L |
probably damaging |
Het |
Esr1 |
G |
A |
10: 4,951,307 (GRCm39) |
V562M |
possibly damaging |
Het |
Fap |
T |
C |
2: 62,333,716 (GRCm39) |
H643R |
probably damaging |
Het |
Fbxo38 |
T |
A |
18: 62,648,232 (GRCm39) |
M769L |
probably benign |
Het |
Fgfr1 |
A |
G |
8: 26,063,915 (GRCm39) |
N814S |
probably benign |
Het |
Hipk3 |
C |
A |
2: 104,276,916 (GRCm39) |
V388L |
probably damaging |
Het |
Hspa1l |
T |
A |
17: 35,196,832 (GRCm39) |
Y290* |
probably null |
Het |
Itsn1 |
G |
A |
16: 91,615,440 (GRCm39) |
|
probably benign |
Het |
Kprp |
G |
A |
3: 92,732,163 (GRCm39) |
R296W |
probably damaging |
Het |
Med23 |
T |
C |
10: 24,746,603 (GRCm39) |
I14T |
probably benign |
Het |
Mitf |
A |
G |
6: 97,968,910 (GRCm39) |
Y10C |
probably benign |
Het |
Mpo |
T |
C |
11: 87,686,865 (GRCm39) |
S165P |
probably damaging |
Het |
Neb |
T |
G |
2: 52,154,122 (GRCm39) |
M2330L |
possibly damaging |
Het |
Nup214 |
T |
C |
2: 31,884,696 (GRCm39) |
S486P |
probably benign |
Het |
Or2y1f |
G |
A |
11: 49,184,503 (GRCm39) |
M118I |
probably damaging |
Het |
Parp6 |
G |
A |
9: 59,537,969 (GRCm39) |
V205I |
possibly damaging |
Het |
Pate2 |
A |
T |
9: 35,581,767 (GRCm39) |
|
probably benign |
Het |
Pdss1 |
T |
C |
2: 22,802,608 (GRCm39) |
|
probably benign |
Het |
Pira13 |
A |
G |
7: 3,825,754 (GRCm39) |
S372P |
possibly damaging |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Septin1 |
G |
A |
7: 126,816,200 (GRCm39) |
P77S |
probably damaging |
Het |
Slitrk3 |
A |
G |
3: 72,958,118 (GRCm39) |
L218P |
probably damaging |
Het |
Sltm |
T |
C |
9: 70,487,529 (GRCm39) |
I521T |
probably benign |
Het |
Smchd1 |
A |
G |
17: 71,735,270 (GRCm39) |
I618T |
probably benign |
Het |
Sox6 |
A |
G |
7: 115,179,798 (GRCm39) |
|
probably null |
Het |
Sp8 |
A |
G |
12: 118,812,171 (GRCm39) |
I9V |
probably benign |
Het |
Usp9y |
T |
A |
Y: 1,434,407 (GRCm39) |
M352L |
possibly damaging |
Het |
Vmn1r46 |
T |
C |
6: 89,953,349 (GRCm39) |
M66T |
probably benign |
Het |
Vmn2r111 |
A |
T |
17: 22,792,159 (GRCm39) |
N32K |
probably benign |
Het |
Vmn2r63 |
A |
G |
7: 42,576,406 (GRCm39) |
F469S |
probably benign |
Het |
Vps13d |
T |
A |
4: 144,879,348 (GRCm39) |
T1486S |
probably benign |
Het |
Wdr55 |
A |
G |
18: 36,896,153 (GRCm39) |
N281S |
probably benign |
Het |
Zswim6 |
G |
A |
13: 108,025,938 (GRCm39) |
|
noncoding transcript |
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 |
R1188:Jam2
|
UTSW |
16 |
84,603,755 (GRCm39) |
missense |
probably damaging |
0.99 |
R4230:Jam2
|
UTSW |
16 |
84,618,180 (GRCm39) |
missense |
possibly damaging |
0.92 |
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'- GATACATACTGCAACTTGACTGTC -3'
(R):5'- GTCAGACACAAGATGCCAGG -3'
Sequencing Primer
(F):5'- TGCAACTTGACTGTCCATAAAATTAG -3'
(R):5'- CACAAGATGCCAGGTTGTAATTTAG -3'
|
Posted On |
2015-06-24 |