Incidental Mutation 'R2210:Itgb2l'
| ID |
239335 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itgb2l
|
| Ensembl Gene |
ENSMUSG00000000157 |
| Gene Name |
integrin beta 2-like |
| Synonyms |
pactolus, 5033406G21Rik |
| MMRRC Submission |
040212-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R2210 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
96223488-96244819 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 96227421 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 541
(V541M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000000161
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000161]
[ENSMUST00000113773]
[ENSMUST00000113794]
[ENSMUST00000113795]
[ENSMUST00000131567]
[ENSMUST00000136292]
|
| AlphaFold |
Q3UV74 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000000161
AA Change: V541M
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000000161
Gene: ENSMUSG00000000157
AA Change: V541M
| 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 |
possibly damaging
Transcript: ENSMUST00000113773
AA Change: V541M
PolyPhen 2
Score 0.652 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000109403
Gene: ENSMUSG00000000157
AA Change: V541M
| 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 |
silent
Transcript: ENSMUST00000131567
|
| SMART Domains |
Protein: ENSMUSP00000114497
Gene: ENSMUSG00000000157
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131777
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136292
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210016L21Rik |
C |
G |
5: 115,080,348 (GRCm39) |
R28G |
probably damaging |
Het |
| Adgrb1 |
C |
T |
15: 74,419,553 (GRCm39) |
A798V |
probably damaging |
Het |
| Ash1l |
G |
T |
3: 88,973,605 (GRCm39) |
D2555Y |
probably damaging |
Het |
| Atr |
G |
A |
9: 95,789,353 (GRCm39) |
R1503Q |
probably damaging |
Het |
| Cbln3 |
T |
A |
14: 56,121,383 (GRCm39) |
I88F |
possibly damaging |
Het |
| Cct7 |
G |
A |
6: 85,436,212 (GRCm39) |
G41D |
probably damaging |
Het |
| Cd1d2 |
G |
T |
3: 86,895,041 (GRCm39) |
A138S |
possibly damaging |
Het |
| Dct |
T |
C |
14: 118,280,561 (GRCm39) |
I152V |
probably benign |
Het |
| Dgkq |
C |
A |
5: 108,808,389 (GRCm39) |
R58L |
probably damaging |
Het |
| Emc10 |
G |
A |
7: 44,142,616 (GRCm39) |
R109W |
probably damaging |
Het |
| Gm4884 |
A |
T |
7: 40,692,970 (GRCm39) |
E313V |
possibly damaging |
Het |
| Hectd1 |
A |
T |
12: 51,853,245 (GRCm39) |
I92K |
probably damaging |
Het |
| Icam1 |
A |
G |
9: 20,930,329 (GRCm39) |
E61G |
probably damaging |
Het |
| Lmtk2 |
A |
G |
5: 144,084,427 (GRCm39) |
E154G |
probably damaging |
Het |
| Majin |
C |
A |
19: 6,272,728 (GRCm39) |
H223N |
possibly damaging |
Het |
| Mc4r |
A |
T |
18: 66,992,466 (GRCm39) |
F216I |
probably damaging |
Het |
| Muc4 |
AG |
AGG |
16: 32,755,176 (GRCm38) |
|
probably null |
Het |
| Obscn |
A |
T |
11: 58,958,913 (GRCm39) |
V3379D |
probably damaging |
Het |
| Or8g30 |
A |
T |
9: 39,230,089 (GRCm39) |
S274T |
probably damaging |
Het |
| Pde4b |
A |
T |
4: 102,454,672 (GRCm39) |
N346I |
probably damaging |
Het |
| Pitpnm1 |
T |
C |
19: 4,155,253 (GRCm39) |
S331P |
probably damaging |
Het |
| Plcb2 |
T |
A |
2: 118,547,984 (GRCm39) |
I437F |
probably damaging |
Het |
| Pramel14 |
T |
A |
4: 143,720,789 (GRCm39) |
M51L |
probably benign |
Het |
| Prr12 |
A |
G |
7: 44,698,775 (GRCm39) |
|
probably benign |
Het |
| Pus7l |
T |
G |
15: 94,438,173 (GRCm39) |
D224A |
possibly damaging |
Het |
| Sh3pxd2a |
A |
G |
19: 47,255,782 (GRCm39) |
S1007P |
possibly damaging |
Het |
| Stac |
G |
A |
9: 111,431,638 (GRCm39) |
P238S |
probably damaging |
Het |
| Tmem107 |
A |
G |
11: 68,962,096 (GRCm39) |
E45G |
possibly damaging |
Het |
| Tmt1b |
T |
A |
10: 128,794,591 (GRCm39) |
K244N |
probably damaging |
Het |
| Triml2 |
T |
C |
8: 43,636,397 (GRCm39) |
Y61H |
probably damaging |
Het |
| Uba2 |
T |
C |
7: 33,862,587 (GRCm39) |
D95G |
probably damaging |
Het |
| Ube2d3 |
T |
A |
3: 135,168,802 (GRCm39) |
D132E |
probably benign |
Het |
| Unc5d |
A |
G |
8: 29,251,825 (GRCm39) |
I216T |
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 |
|
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 |
|
R7771:Itgb2l
|
UTSW |
16 |
96,228,172 (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'- ATGGGTTGTAGGGACACTCAC -3'
(R):5'- CCCATCTATCCTTGCAAGGTG -3'
Sequencing Primer
(F):5'- TGTAGGGACACTCACTAGTACTCG -3'
(R):5'- CCATCTATCCTTGCAAGGTGTTGTG -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation