Mutagenetix > Incidental Mutations

Incidental Mutation 'R5055:Itgb2l'

390811

Institutional Source

Beutler Lab

Gene Symbol

Itgb2l

Ensembl Gene

ENSMUSG00000000157

Gene Name

integrin beta 2-like

Synonyms

pactolus, 5033406G21Rik

MMRRC Submission

042645-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

R5055 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

96422288-96443619 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 96427803 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 400 (I400N)

Ref Sequence

ENSEMBL: ENSMUSP00000114497 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000161] [ENSMUST00000113773] [ENSMUST00000113795] [ENSMUST00000131567]

PDB Structure

PACTOLUS I-DOMAIN: FUNCTIONAL SWITCHING OF THE ROSSMANN FOLD [SOLUTION NMR]

Predicted Effect

probably damaging
Transcript: ENSMUST00000000161
AA Change: I400N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000000161
Gene: ENSMUSG00000000157
AA Change: I400N

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: I400N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000109403
Gene: ENSMUSG00000000157
AA Change: I400N

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: 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: I400N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000114497
Gene: ENSMUSG00000000157
AA Change: I400N

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

Meta Mutation Damage Score

0.9109

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 92.9%

Validation Efficiency

98% (84/86)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam19	G	A	11: 46,123,169	V329I	probably damaging	Het
Adgrl3	C	A	5: 81,646,551	A541E	possibly damaging	Het
Agbl1	A	T	7: 76,413,577	I263F	probably damaging	Het
Ash1l	T	C	3: 89,023,212		probably null	Het
BC051142	G	A	17: 34,448,796	C154Y	possibly damaging	Het
Bccip	A	G	7: 133,714,923	T91A	probably benign	Het
Bnc1	A	T	7: 81,974,415	F355I	probably damaging	Het
Bpifa2	A	T	2: 154,013,710	D185V	probably damaging	Het
Capn8	T	A	1: 182,571,961	V89D	probably damaging	Het
Cfap46	A	T	7: 139,661,190	M421K	probably damaging	Het
Chd2	A	T	7: 73,480,508	L800M	probably damaging	Het
Chd4	A	G	6: 125,100,986	D137G	possibly damaging	Het
Crtap	A	G	9: 114,390,140	Y154H	probably benign	Het
Ctdp1	T	A	18: 80,456,088	Q213L	probably damaging	Het
Cts6	T	C	13: 61,196,350	Y296C	probably damaging	Het
Daxx	G	T	17: 33,912,160	V354F	probably benign	Het
Dnah2	A	G	11: 69,520,773	I341T	possibly damaging	Het
Epha2	A	G	4: 141,309,069	D272G	probably benign	Het
Etfa	A	G	9: 55,500,133	V24A	probably damaging	Het
Fbxl7	C	A	15: 26,552,936	G82W	probably damaging	Het
Fcamr	G	A	1: 130,811,437	C158Y	probably damaging	Het
Fyb	A	C	15: 6,585,149		probably benign	Het
Gars	G	A	6: 55,068,092	R454H	probably damaging	Het
Ghsr	T	C	3: 27,372,272	V159A	probably benign	Het
Glp1r	A	T	17: 30,918,887	Q97H	probably benign	Het
Gm27047	T	C	6: 130,629,946		noncoding transcript	Het
Igkv3-3	A	C	6: 70,687,239	I22L	probably benign	Het
Inpp5b	G	T	4: 124,743,031		probably null	Het
Ipo9	C	A	1: 135,402,359	E448*	probably null	Het
Kat6b	T	A	14: 21,516,994	H40Q	probably damaging	Het
Kcna7	G	A	7: 45,406,591	R77H	probably damaging	Het
Kcnq2	G	T	2: 181,086,761		probably benign	Het
Klf7	T	C	1: 64,079,280	T53A	probably benign	Het
Kmt2a	A	G	9: 44,818,352		probably benign	Het
Lrp10	C	T	14: 54,468,345	R331C	probably benign	Het
Map4k5	A	T	12: 69,831,558	D289E	probably benign	Het
Mfsd4b2	A	T	10: 39,923,777	M43K	possibly damaging	Het
Msr1	T	G	8: 39,623,956	R138S	possibly damaging	Het
Myh7b	G	C	2: 155,632,373	R1669S	possibly damaging	Het
Myh9	G	A	15: 77,764,523	A1711V	probably benign	Het
Myo18b	A	G	5: 112,875,217		probably benign	Het
Nampt	A	T	12: 32,833,121	N102Y	possibly damaging	Het
Nell2	T	C	15: 95,473,579	I92V	probably benign	Het
Nes	A	G	3: 87,977,214	N883D	probably benign	Het
Neurl3	T	A	1: 36,273,382		probably benign	Het
Ocln	T	A	13: 100,539,422	T188S	probably benign	Het
Olfr1023	T	C	2: 85,887,241	F147S	probably benign	Het
Olfr704	T	A	7: 106,865,730	M250K	probably damaging	Het
Parp14	T	A	16: 35,844,363	Q1305L	probably benign	Het
Pde3a	C	T	6: 141,487,956	Q855*	probably null	Het
Pde4b	T	C	4: 102,195,114		probably benign	Het
Pdk2	T	C	11: 95,039,416	M65V	probably benign	Het
Phf21a	T	C	2: 92,351,856	S377P	probably damaging	Het
Plcb2	T	A	2: 118,718,222	T408S	probably benign	Het
Ppp1r12b	G	T	1: 134,955,733	A17E	probably benign	Het
Ppp6r2	A	G	15: 89,282,949	D789G	probably benign	Het
Prdm16	T	C	4: 154,335,262	M897V	possibly damaging	Het
Prss57	A	G	10: 79,784,344		probably null	Het
Psd	G	T	19: 46,322,468	L381I	probably benign	Het
Ptprq	A	T	10: 107,534,679	D2050E	probably benign	Het
Rfc1	G	T	5: 65,266,162	N1034K	probably damaging	Het
Ryr3	C	T	2: 112,831,159	G1829S	probably benign	Het
Scaper	T	C	9: 55,859,719		probably null	Het
Scn5a	A	G	9: 119,522,566	I783T	probably damaging	Het
Slc28a1	A	G	7: 81,169,048	N583S	possibly damaging	Het
Slc35e3	C	T	10: 117,744,979	G140D	probably damaging	Het
Slc6a9	G	A	4: 117,868,150		probably null	Het
Sptlc1	A	G	13: 53,342,182	S376P	probably benign	Het
Sspo	G	A	6: 48,464,795	C1913Y	probably damaging	Het
Taar7b	A	T	10: 24,000,947	I337F	possibly damaging	Het
Tdpoz2	T	A	3: 93,651,928	I246F	probably damaging	Het
Trpa1	C	T	1: 14,875,959	V983M	probably damaging	Het
Trpm5	A	T	7: 143,072,784	M1112K	probably benign	Het
Uso1	A	T	5: 92,192,735	K670I	probably benign	Het
Washc4	A	G	10: 83,556,907	D257G	probably damaging	Het
Wdr41	T	A	13: 95,015,217		probably null	Het
Zbtb17	A	G	4: 141,466,549	Q668R	possibly damaging	Het

Other mutations in Itgb2l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00952:Itgb2l	APN	16	96426750	missense	probably damaging	0.98
IGL01482:Itgb2l	APN	16	96438748	missense	probably damaging	0.99
IGL01767:Itgb2l	APN	16	96430575	missense	probably benign	0.05
IGL02056:Itgb2l	APN	16	96427689	missense	probably damaging	0.97
IGL02072:Itgb2l	APN	16	96430608	missense	probably benign
IGL02858:Itgb2l	APN	16	96422650	missense	possibly damaging	0.96
R0011:Itgb2l	UTSW	16	96427661	splice site	probably benign
R0153:Itgb2l	UTSW	16	96437369	missense	possibly damaging	0.94
R0270:Itgb2l	UTSW	16	96422930	unclassified	probably benign
R0496:Itgb2l	UTSW	16	96434701	missense	possibly damaging	0.86
R0627:Itgb2l	UTSW	16	96422911	unclassified	probably benign
R1185:Itgb2l	UTSW	16	96429040	missense	possibly damaging	0.90
R1185:Itgb2l	UTSW	16	96429040	missense	possibly damaging	0.90
R1185:Itgb2l	UTSW	16	96429040	missense	possibly damaging	0.90
R1509:Itgb2l	UTSW	16	96426849	missense	probably benign	0.28
R1792:Itgb2l	UTSW	16	96425082	missense	probably damaging	1.00
R1912:Itgb2l	UTSW	16	96426935	missense	probably benign	0.17
R2210:Itgb2l	UTSW	16	96426221	missense	possibly damaging	0.82
R3160:Itgb2l	UTSW	16	96437389	missense	probably damaging	0.99
R3162:Itgb2l	UTSW	16	96437389	missense	probably damaging	0.99
R3836:Itgb2l	UTSW	16	96426167	missense	probably benign
R4131:Itgb2l	UTSW	16	96437389	missense	probably damaging	0.99
R4132:Itgb2l	UTSW	16	96437389	missense	probably damaging	0.99
R4254:Itgb2l	UTSW	16	96430577	missense	probably benign	0.00
R4854:Itgb2l	UTSW	16	96426117	nonsense	probably null
R4893:Itgb2l	UTSW	16	96427821	missense	probably benign	0.12
R4931:Itgb2l	UTSW	16	96437449	missense	probably damaging	1.00
R5039:Itgb2l	UTSW	16	96425005	missense	possibly damaging	0.69
R5960:Itgb2l	UTSW	16	96426259	missense	probably benign	0.00
R6412:Itgb2l	UTSW	16	96427729	missense	probably benign	0.04
R6966:Itgb2l	UTSW	16	96430643	missense	probably benign	0.02
R7149:Itgb2l	UTSW	16	96433559	missense	probably damaging	1.00
R7278:Itgb2l	UTSW	16	96429043	missense	probably damaging	1.00
R7293:Itgb2l	UTSW	16	96426796	nonsense	probably null
R7482:Itgb2l	UTSW	16	96426833	missense	probably benign	0.01
R7570:Itgb2l	UTSW	16	96426239	missense	probably benign	0.00
R7743:Itgb2l	UTSW	16	96437408	missense	probably damaging	1.00
R7771:Itgb2l	UTSW	16	96426972	missense	probably damaging	1.00
R8446:Itgb2l	UTSW	16	96432657	missense	probably damaging	1.00
X0018:Itgb2l	UTSW	16	96435676	missense	probably benign	0.01
Z1177:Itgb2l	UTSW	16	96437356	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGGGACAGGTGTCTACAGG -3'
(R):5'- TGCTTCAGAGAGAACCCATACC -3'

Sequencing Primer
(F):5'- GTGGGCTTTCTAGGTACACC -3'
(R):5'- CATCCCTCCTATGACATCATTTTGG -3'

Posted On

2016-06-06