Incidental Mutation 'R9785:Jam2'
| ID |
734303 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9785 (G1)
|
| Quality Score |
217.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
84571011-84622816 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 84571397 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 8
(L8P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109833
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098407]
[ENSMUST00000114195]
|
| AlphaFold |
Q9JI59 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000098407
AA Change: L8P
|
| SMART Domains |
Protein: ENSMUSP00000096007
Gene: ENSMUSG00000053062
AA Change: L8P
| 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 |
unknown
Transcript: ENSMUST00000114195
AA Change: L8P
|
| SMART Domains |
Protein: ENSMUSP00000109833
Gene: ENSMUSG00000053062
AA Change: L8P
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.3%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts14 |
T |
C |
10: 61,049,427 (GRCm39) |
E634G |
possibly damaging |
Het |
| Adgre1 |
T |
C |
17: 57,785,930 (GRCm39) |
L892P |
probably damaging |
Het |
| Adgrl1 |
A |
T |
8: 84,665,168 (GRCm39) |
N1285I |
probably damaging |
Het |
| Alpk1 |
A |
T |
3: 127,473,594 (GRCm39) |
M803K |
probably benign |
Het |
| Armt1 |
T |
A |
10: 4,389,606 (GRCm39) |
W88R |
probably damaging |
Het |
| Cacna1d |
A |
T |
14: 29,824,300 (GRCm39) |
|
probably null |
Het |
| Cd27 |
G |
A |
6: 125,213,945 (GRCm39) |
|
probably benign |
Het |
| Cebpb |
A |
G |
2: 167,531,663 (GRCm39) |
D241G |
probably damaging |
Het |
| Clec3b |
T |
A |
9: 122,985,997 (GRCm39) |
W132R |
probably damaging |
Het |
| Cracd |
A |
T |
5: 77,015,028 (GRCm39) |
S1185C |
unknown |
Het |
| Csn2 |
A |
T |
5: 87,842,502 (GRCm39) |
V175D |
possibly damaging |
Het |
| Dnm1 |
A |
T |
2: 32,223,089 (GRCm39) |
C442S |
possibly damaging |
Het |
| Dstyk |
C |
T |
1: 132,381,038 (GRCm39) |
T511I |
probably damaging |
Het |
| Gabra5 |
C |
T |
7: 57,140,584 (GRCm39) |
V38I |
probably benign |
Het |
| Gjd2 |
A |
T |
2: 113,841,747 (GRCm39) |
Y243* |
probably null |
Het |
| Gtf2b |
AATCATC |
AATC |
3: 142,477,178 (GRCm39) |
|
probably benign |
Het |
| Hrnr |
G |
A |
3: 93,238,861 (GRCm39) |
R3033H |
unknown |
Het |
| Ivd |
G |
T |
2: 118,710,970 (GRCm39) |
R393L |
probably damaging |
Het |
| Klhdc7b |
G |
T |
15: 89,272,621 (GRCm39) |
D510Y |
probably damaging |
Het |
| Lgals8 |
A |
T |
13: 12,462,051 (GRCm39) |
F260I |
probably damaging |
Het |
| Lrrd1 |
T |
C |
5: 3,908,708 (GRCm39) |
I660T |
probably damaging |
Het |
| Mcm5 |
C |
T |
8: 75,844,168 (GRCm39) |
S313F |
probably benign |
Het |
| Npc1l1 |
C |
T |
11: 6,180,090 (GRCm39) |
A12T |
unknown |
Het |
| Or10j7 |
C |
T |
1: 173,011,458 (GRCm39) |
R181H |
probably benign |
Het |
| Or5d47 |
T |
C |
2: 87,804,245 (GRCm39) |
T255A |
possibly damaging |
Het |
| Rprm |
C |
T |
2: 53,975,238 (GRCm39) |
V27M |
probably benign |
Het |
| Scg3 |
G |
T |
9: 75,589,322 (GRCm39) |
D110E |
probably damaging |
Het |
| Selenon |
C |
T |
4: 134,270,374 (GRCm39) |
G326D |
probably damaging |
Het |
| Sh3gl2 |
T |
A |
4: 85,273,618 (GRCm39) |
Y57N |
probably damaging |
Het |
| Skint6 |
A |
T |
4: 112,740,884 (GRCm39) |
L807M |
possibly damaging |
Het |
| Srl |
A |
G |
16: 4,314,718 (GRCm39) |
V308A |
probably benign |
Het |
| Tcf7 |
T |
A |
11: 52,173,773 (GRCm39) |
|
probably benign |
Het |
| Trdv2-2 |
A |
T |
14: 54,198,489 (GRCm39) |
T14S |
probably benign |
Het |
| Usf3 |
A |
G |
16: 44,041,970 (GRCm39) |
E2150G |
probably benign |
Het |
| Vmn2r104 |
G |
A |
17: 20,268,409 (GRCm39) |
T20I |
probably benign |
Het |
| Wnt1 |
G |
T |
15: 98,688,752 (GRCm39) |
V38L |
probably benign |
Het |
| Zbtb17 |
C |
T |
4: 141,194,271 (GRCm39) |
T740M |
possibly damaging |
Het |
| Zdhhc6 |
T |
C |
19: 55,300,203 (GRCm39) |
M125V |
probably damaging |
Het |
| Zfp202 |
A |
G |
9: 40,120,233 (GRCm39) |
M225V |
probably benign |
Het |
| Zfp592 |
G |
T |
7: 80,673,245 (GRCm39) |
V70F |
probably damaging |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGACCGGAGAGACTGACATC -3'
(R):5'- CAAGACGCACAGGACTTCAGTC -3'
Sequencing Primer
(F):5'- ACTGACATCGGGACAGGACC -3'
(R):5'- GCACAGGACTTCAGTCTCCCTG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation