Incidental Mutation 'R7771:Itgb2l'
ID |
598603 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Itgb2l
|
Ensembl Gene |
ENSMUSG00000000157 |
Gene Name |
integrin beta 2-like |
Synonyms |
pactolus, 5033406G21Rik |
MMRRC Submission |
045827-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.074)
|
Stock # |
R7771 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
96223488-96244819 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 96228172 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Arginine
at position 444
(C444R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109403
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000161]
[ENSMUST00000113773]
[ENSMUST00000113794]
[ENSMUST00000113795]
[ENSMUST00000131567]
|
AlphaFold |
Q3UV74 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000000161
AA Change: C444R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000000161 Gene: ENSMUSG00000000157 AA Change: C444R
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
EGF_like
|
24 |
63 |
3.95e1 |
SMART |
PSI
|
24 |
74 |
2.88e-4 |
SMART |
INB
|
32 |
419 |
7.05e-119 |
SMART |
VWA
|
126 |
329 |
1.16e0 |
SMART |
EGF_like
|
553 |
585 |
4.64e1 |
SMART |
Integrin_B_tail
|
594 |
669 |
1.22e-9 |
SMART |
transmembrane domain
|
672 |
694 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000113773
AA Change: C444R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000109403 Gene: ENSMUSG00000000157 AA Change: C444R
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
EGF_like
|
24 |
63 |
3.95e1 |
SMART |
PSI
|
24 |
74 |
2.88e-4 |
SMART |
INB
|
32 |
419 |
7.05e-119 |
SMART |
VWA
|
126 |
329 |
1.16e0 |
SMART |
EGF_like
|
553 |
585 |
4.64e1 |
SMART |
Integrin_B_tail
|
594 |
669 |
1.22e-9 |
SMART |
transmembrane domain
|
672 |
694 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113794
|
SMART Domains |
Protein: ENSMUSP00000109425 Gene: ENSMUSG00000000159
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
IG
|
31 |
127 |
9.63e-6 |
SMART |
IG
|
134 |
221 |
2.64e0 |
SMART |
transmembrane domain
|
239 |
261 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113795
|
SMART Domains |
Protein: ENSMUSP00000109426 Gene: ENSMUSG00000000159
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
IG
|
31 |
125 |
4.74e-5 |
SMART |
transmembrane domain
|
139 |
161 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000131567
AA Change: C444R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000114497 Gene: ENSMUSG00000000157 AA Change: C444R
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
PSI
|
24 |
74 |
2.88e-4 |
SMART |
INB
|
32 |
419 |
7.05e-119 |
SMART |
VWA
|
126 |
329 |
1.16e0 |
SMART |
|
Meta Mutation Damage Score |
0.9419 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
100% (56/56) |
MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele display normal leukocyte development and normal neutrophil recruitment to inflamed tissues. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb11 |
C |
T |
2: 69,069,535 (GRCm39) |
A1287T |
probably damaging |
Het |
Ahnak |
A |
G |
19: 8,992,411 (GRCm39) |
K4565R |
probably damaging |
Het |
Asb13 |
A |
G |
13: 3,699,463 (GRCm39) |
Y221C |
probably damaging |
Het |
BB014433 |
C |
T |
8: 15,092,395 (GRCm39) |
V153M |
probably damaging |
Het |
Brip1 |
T |
C |
11: 85,952,850 (GRCm39) |
E977G |
probably benign |
Het |
C3 |
T |
A |
17: 57,522,797 (GRCm39) |
D1029V |
probably damaging |
Het |
Ccdc116 |
T |
C |
16: 16,957,455 (GRCm39) |
E568G |
probably benign |
Het |
Cdhr2 |
T |
C |
13: 54,866,088 (GRCm39) |
V296A |
probably damaging |
Het |
Cenpe |
A |
G |
3: 134,946,702 (GRCm39) |
|
probably null |
Het |
Cnot1 |
A |
G |
8: 96,491,753 (GRCm39) |
V357A |
probably damaging |
Het |
Coa3 |
A |
T |
11: 101,169,641 (GRCm39) |
M38K |
possibly damaging |
Het |
Cyp2d26 |
T |
C |
15: 82,675,947 (GRCm39) |
N255S |
probably benign |
Het |
Cysrt1 |
T |
C |
2: 25,129,237 (GRCm39) |
S92G |
probably benign |
Het |
D030056L22Rik |
A |
G |
19: 18,690,842 (GRCm39) |
E52G |
possibly damaging |
Het |
Derl1 |
T |
C |
15: 57,743,436 (GRCm39) |
D97G |
probably damaging |
Het |
Ebf3 |
A |
G |
7: 136,911,092 (GRCm39) |
Y141H |
probably damaging |
Het |
Eci1 |
T |
A |
17: 24,652,125 (GRCm39) |
L49* |
probably null |
Het |
Gzma |
C |
T |
13: 113,234,829 (GRCm39) |
C54Y |
probably damaging |
Het |
Hydin |
A |
G |
8: 111,291,717 (GRCm39) |
N3403S |
probably damaging |
Het |
Ide |
T |
C |
19: 37,275,525 (GRCm39) |
N495D |
|
Het |
Ighv1-23 |
T |
A |
12: 114,728,356 (GRCm39) |
Q22L |
probably benign |
Het |
Kcnj3 |
C |
A |
2: 55,336,949 (GRCm39) |
H272N |
probably damaging |
Het |
Lrp6 |
C |
T |
6: 134,439,579 (GRCm39) |
C1218Y |
probably damaging |
Het |
Lrrd1 |
T |
C |
5: 3,916,476 (GRCm39) |
M831T |
possibly damaging |
Het |
Map3k11 |
A |
G |
19: 5,740,636 (GRCm39) |
E121G |
probably damaging |
Het |
Mzt1 |
A |
T |
14: 99,278,012 (GRCm39) |
I52N |
probably damaging |
Het |
Or1j11 |
T |
C |
2: 36,312,156 (GRCm39) |
S249P |
possibly damaging |
Het |
Or52z12 |
A |
G |
7: 103,233,297 (GRCm39) |
I23V |
probably benign |
Het |
Or7e166 |
T |
A |
9: 19,624,767 (GRCm39) |
F215I |
probably benign |
Het |
Pcdhb17 |
A |
C |
18: 37,619,962 (GRCm39) |
Y584S |
possibly damaging |
Het |
Per3 |
A |
T |
4: 151,110,657 (GRCm39) |
D380E |
probably damaging |
Het |
Per3 |
A |
T |
4: 151,125,902 (GRCm39) |
L139Q |
probably damaging |
Het |
Pgap6 |
T |
C |
17: 26,341,047 (GRCm39) |
Y717H |
probably damaging |
Het |
Pik3cg |
T |
C |
12: 32,254,013 (GRCm39) |
H658R |
probably benign |
Het |
Pitpnm3 |
G |
A |
11: 71,952,314 (GRCm39) |
Q626* |
probably null |
Het |
Polr3e |
T |
C |
7: 120,539,801 (GRCm39) |
V542A |
probably benign |
Het |
Rgs22 |
T |
A |
15: 36,050,224 (GRCm39) |
H866L |
possibly damaging |
Het |
Rnf150 |
A |
G |
8: 83,590,832 (GRCm39) |
E65G |
probably benign |
Het |
Sema3f |
C |
A |
9: 107,569,625 (GRCm39) |
R100L |
possibly damaging |
Het |
Skic3 |
A |
G |
13: 76,283,149 (GRCm39) |
H792R |
probably benign |
Het |
Smim18 |
T |
C |
8: 34,232,370 (GRCm39) |
D83G |
possibly damaging |
Het |
Snx13 |
T |
A |
12: 35,174,527 (GRCm39) |
D685E |
probably benign |
Het |
Stat5a |
A |
C |
11: 100,754,045 (GRCm39) |
N125T |
probably benign |
Het |
Stk24 |
T |
C |
14: 121,575,045 (GRCm39) |
E21G |
probably damaging |
Het |
Tasor |
A |
G |
14: 27,189,516 (GRCm39) |
T923A |
probably damaging |
Het |
Tlr3 |
C |
T |
8: 45,856,076 (GRCm39) |
V35I |
probably benign |
Het |
Tmprss11b |
A |
T |
5: 86,809,554 (GRCm39) |
|
probably null |
Het |
Trpm2 |
T |
C |
10: 77,768,013 (GRCm39) |
I829V |
probably benign |
Het |
Ttc39a |
T |
C |
4: 109,288,647 (GRCm39) |
Y276H |
probably damaging |
Het |
Vmn2r98 |
T |
A |
17: 19,287,460 (GRCm39) |
|
probably null |
Het |
Wdr73 |
G |
A |
7: 80,542,975 (GRCm39) |
A211V |
probably benign |
Het |
Zc3h4 |
T |
C |
7: 16,163,824 (GRCm39) |
V673A |
unknown |
Het |
Zfp382 |
A |
G |
7: 29,832,760 (GRCm39) |
H137R |
probably damaging |
Het |
Zp2 |
T |
G |
7: 119,742,865 (GRCm39) |
D89A |
probably damaging |
Het |
Zpld2 |
A |
T |
4: 133,922,754 (GRCm39) |
N526K |
probably benign |
Het |
Zranb3 |
A |
C |
1: 127,960,605 (GRCm39) |
Y220D |
probably damaging |
Het |
Zswim8 |
G |
A |
14: 20,763,048 (GRCm39) |
V316I |
probably damaging |
Het |
|
Other mutations in Itgb2l |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00952:Itgb2l
|
APN |
16 |
96,227,950 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01482:Itgb2l
|
APN |
16 |
96,239,948 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01767:Itgb2l
|
APN |
16 |
96,231,775 (GRCm39) |
missense |
probably benign |
0.05 |
IGL02056:Itgb2l
|
APN |
16 |
96,228,889 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02072:Itgb2l
|
APN |
16 |
96,231,808 (GRCm39) |
missense |
probably benign |
|
IGL02858:Itgb2l
|
APN |
16 |
96,223,850 (GRCm39) |
missense |
possibly damaging |
0.96 |
R0011:Itgb2l
|
UTSW |
16 |
96,228,861 (GRCm39) |
splice site |
probably benign |
|
R0153:Itgb2l
|
UTSW |
16 |
96,238,569 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0270:Itgb2l
|
UTSW |
16 |
96,224,130 (GRCm39) |
unclassified |
probably benign |
|
R0496:Itgb2l
|
UTSW |
16 |
96,235,901 (GRCm39) |
missense |
possibly damaging |
0.86 |
R0627:Itgb2l
|
UTSW |
16 |
96,224,111 (GRCm39) |
unclassified |
probably benign |
|
R1185:Itgb2l
|
UTSW |
16 |
96,230,240 (GRCm39) |
missense |
possibly damaging |
0.90 |
R1185:Itgb2l
|
UTSW |
16 |
96,230,240 (GRCm39) |
missense |
possibly damaging |
0.90 |
R1185:Itgb2l
|
UTSW |
16 |
96,230,240 (GRCm39) |
missense |
possibly damaging |
0.90 |
R1509:Itgb2l
|
UTSW |
16 |
96,228,049 (GRCm39) |
missense |
probably benign |
0.28 |
R1792:Itgb2l
|
UTSW |
16 |
96,226,282 (GRCm39) |
missense |
probably damaging |
1.00 |
R1912:Itgb2l
|
UTSW |
16 |
96,228,135 (GRCm39) |
missense |
probably benign |
0.17 |
R2210:Itgb2l
|
UTSW |
16 |
96,227,421 (GRCm39) |
missense |
possibly damaging |
0.82 |
R3160:Itgb2l
|
UTSW |
16 |
96,238,589 (GRCm39) |
missense |
probably damaging |
0.99 |
R3162:Itgb2l
|
UTSW |
16 |
96,238,589 (GRCm39) |
missense |
probably damaging |
0.99 |
R3836:Itgb2l
|
UTSW |
16 |
96,227,367 (GRCm39) |
missense |
probably benign |
|
R4131:Itgb2l
|
UTSW |
16 |
96,238,589 (GRCm39) |
missense |
probably damaging |
0.99 |
R4132:Itgb2l
|
UTSW |
16 |
96,238,589 (GRCm39) |
missense |
probably damaging |
0.99 |
R4254:Itgb2l
|
UTSW |
16 |
96,231,777 (GRCm39) |
missense |
probably benign |
0.00 |
R4854:Itgb2l
|
UTSW |
16 |
96,227,317 (GRCm39) |
nonsense |
probably null |
|
R4893:Itgb2l
|
UTSW |
16 |
96,229,021 (GRCm39) |
missense |
probably benign |
0.12 |
R4931:Itgb2l
|
UTSW |
16 |
96,238,649 (GRCm39) |
missense |
probably damaging |
1.00 |
R5039:Itgb2l
|
UTSW |
16 |
96,226,205 (GRCm39) |
missense |
possibly damaging |
0.69 |
R5055:Itgb2l
|
UTSW |
16 |
96,229,003 (GRCm39) |
missense |
probably damaging |
1.00 |
R5960:Itgb2l
|
UTSW |
16 |
96,227,459 (GRCm39) |
missense |
probably benign |
0.00 |
R6412:Itgb2l
|
UTSW |
16 |
96,228,929 (GRCm39) |
missense |
probably benign |
0.04 |
R6966:Itgb2l
|
UTSW |
16 |
96,231,843 (GRCm39) |
missense |
probably benign |
0.02 |
R7149:Itgb2l
|
UTSW |
16 |
96,234,759 (GRCm39) |
missense |
probably damaging |
1.00 |
R7278:Itgb2l
|
UTSW |
16 |
96,230,243 (GRCm39) |
missense |
probably damaging |
1.00 |
R7293:Itgb2l
|
UTSW |
16 |
96,227,996 (GRCm39) |
nonsense |
probably null |
|
R7482:Itgb2l
|
UTSW |
16 |
96,228,033 (GRCm39) |
missense |
probably benign |
0.01 |
R7570:Itgb2l
|
UTSW |
16 |
96,227,439 (GRCm39) |
missense |
probably benign |
0.00 |
R7743:Itgb2l
|
UTSW |
16 |
96,238,608 (GRCm39) |
missense |
probably damaging |
1.00 |
R8446:Itgb2l
|
UTSW |
16 |
96,233,857 (GRCm39) |
missense |
probably damaging |
1.00 |
X0018:Itgb2l
|
UTSW |
16 |
96,236,876 (GRCm39) |
missense |
probably benign |
0.01 |
Z1177:Itgb2l
|
UTSW |
16 |
96,238,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GCCCATAGATCTCTTTGTTGGG -3'
(R):5'- CGCAAGGTCAAGCTTATGC -3'
Sequencing Primer
(F):5'- ATAGATCTCTTTGTTGGGGATGTCAC -3'
(R):5'- ATGCTTGGCCACTCTACTAAGGG -3'
|
Posted On |
2019-11-26 |