Mutagenetix > Incidental Mutations

Incidental Mutation 'R6505:Itgb2'

523762

Institutional Source

Beutler Lab

Gene Symbol

Itgb2

Ensembl Gene

ENSMUSG00000000290

Gene Name

integrin beta 2

Synonyms

Mac-1 beta, Cd18, 2E6

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.363) question?

Stock #

R6505 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

77530252-77565708 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 77559673 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 536 (C536Y)

Ref Sequence

ENSEMBL: ENSMUSP00000000299 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000299] [ENSMUST00000153541] [ENSMUST00000156644]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000000299
AA Change: C536Y

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

SMART Domains

Protein: ENSMUSP00000000299
Gene: ENSMUSG00000000290
AA Change: C536Y

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
PSI	24	74	6.91e-7	SMART
INB	32	447	1.98e-268	SMART
VWA	126	357	1.25e-1	SMART
internal_repeat_1	459	509	7.99e-5	PROSPERO
EGF_like	535	574	6.81e1	SMART
Integrin_B_tail	622	701	5.53e-22	SMART
transmembrane domain	702	724	N/A	INTRINSIC
Integrin_b_cyt	725	770	1.58e-17	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000153541

SMART Domains

Protein: ENSMUSP00000137734
Gene: ENSMUSG00000000290

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
PSI	24	74	6.91e-7	SMART
INB	32	447	1.98e-268	SMART
VWA	126	357	1.25e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000156644

SMART Domains

Protein: ENSMUSP00000137865
Gene: ENSMUSG00000000290

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
PDB:2P28\|A	23	49	9e-12	PDB
Blast:PSI	24	49	2e-11	BLAST

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.2%

Validation Efficiency

100% (84/84)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an integrin beta chain, which combines with multiple different alpha chains to form different integrin heterodimers. Integrins are integral cell-surface proteins that participate in cell adhesion as well as cell-surface mediated signalling. The encoded protein plays an important role in immune response and defects in this gene cause leukocyte adhesion deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
PHENOTYPE: Homozygotes for targeted null and hypomorphic mutations are subject to granulocytosis, impaired inflammatory and immune responses, and chronic dermatitis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	A	T	17: 9,001,940	I424L	probably benign	Het
2610028H24Rik	C	T	10: 76,449,281	A8V	probably benign	Het
Ago1	G	A	4: 126,463,835	P16S	probably benign	Het
Ak5	C	T	3: 152,481,669	E394K	probably benign	Het
Aldh7a1	T	C	18: 56,526,996	Y498C	probably damaging	Het
Alox12	T	A	11: 70,250,204	D335V	probably damaging	Het
Alx4	A	T	2: 93,668,559	Y212F	probably damaging	Het
Asb16	A	G	11: 102,276,477	E223G	probably damaging	Het
Atg9b	C	T	5: 24,390,577	V235M	probably damaging	Het
BB014433	A	G	8: 15,042,304	V183A	probably benign	Het
Brca1	T	A	11: 101,523,541	M1256L	probably benign	Het
Bst1	A	G	5: 43,820,590	I94V	probably benign	Het
C3ar1	A	G	6: 122,850,640	L206P	probably benign	Het
Cabs1	T	A	5: 87,980,663	M391K	possibly damaging	Het
Cars	C	T	7: 143,565,007	R599Q	probably damaging	Het
Ccdc190	T	A	1: 169,933,023	Y73*	probably null	Het
Cd177	A	C	7: 24,744,246	L809W	probably benign	Het
Cemip	C	A	7: 83,951,597	G939*	probably null	Het
Clca3b	T	A	3: 144,825,259	I777F	probably benign	Het
Cma2	T	C	14: 55,973,779	I176T	probably damaging	Het
Col12a1	T	A	9: 79,647,605	T2064S	probably damaging	Het
Csf1r	A	G	18: 61,129,733	N860S	probably damaging	Het
Dab1	T	A	4: 104,512,264	C3S	probably benign	Het
Dennd4b	A	G	3: 90,267,611	E50G	probably damaging	Het
Dis3l	A	T	9: 64,307,513	S925T	probably benign	Het
Disp1	T	C	1: 183,086,512	N1448S	probably benign	Het
Dpp10	T	C	1: 123,336,851	I747M	probably damaging	Het
Enpp5	G	A	17: 44,085,264	G356S	probably damaging	Het
Ephx4	A	T	5: 107,403,656	K36*	probably null	Het
Fam135a	C	T	1: 24,014,872	V1195I	probably damaging	Het
Fap	A	T	2: 62,546,603	Y234*	probably null	Het
Fem1c	A	T	18: 46,505,875	N353K	possibly damaging	Het
Furin	C	A	7: 80,393,617	R282L	probably damaging	Het
Gm10549	C	A	18: 33,464,305		probably benign	Het
Gm5930	A	G	14: 44,331,371	*265Q	probably null	Het
Hcrtr1	T	A	4: 130,137,586	T15S	probably benign	Het
Ifnar1	C	T	16: 91,499,537	Q309*	probably null	Het
Il18r1	A	T	1: 40,489,707	I304L	probably benign	Het
Ino80	A	T	2: 119,451,441	Y185N	probably damaging	Het
Ivns1abp	T	C	1: 151,360,993	M435T	probably benign	Het
Kcnh4	T	C	11: 100,757,085	N151D	probably benign	Het
Lama3	T	C	18: 12,495,348	M1499T	probably benign	Het
Lamb1	A	T	12: 31,323,462	T1397S	possibly damaging	Het
Leng1	G	A	7: 3,661,212	R239*	probably null	Het
Map2k4	A	T	11: 65,693,529	N309K	possibly damaging	Het
Mcm3	A	G	1: 20,803,544	F784S	probably damaging	Het
Mrgpra9	T	A	7: 47,235,136	N260I	probably benign	Het
Mrnip	C	A	11: 50,199,852	T281N	possibly damaging	Het
Myo9b	A	G	8: 71,355,857	T1715A	possibly damaging	Het
Nectin3	A	G	16: 46,448,821	I406T	possibly damaging	Het
Neto1	A	G	18: 86,498,574	T339A	possibly damaging	Het
Ntn1	T	C	11: 68,213,199	D541G	probably damaging	Het
Nuak2	C	A	1: 132,316,394	H55Q	probably damaging	Het
Nufip2	A	G	11: 77,691,613	T118A	probably benign	Het
Olfr1126	T	A	2: 87,457,927	V254E	probably damaging	Het
Olfr1155	A	T	2: 87,943,174	Y151*	probably null	Het
Olfr19	A	T	16: 16,673,920	D20E	probably benign	Het
Olfr213	C	T	6: 116,540,600	T49M	probably benign	Het
Olfr266	T	G	3: 106,822,322	N79T	possibly damaging	Het
Olfr483	T	C	7: 108,103,567	V86A	probably benign	Het
Olfr596	C	A	7: 103,309,793	A24D	probably benign	Het
Olfr609	T	A	7: 103,492,651	T76S	probably damaging	Het
Olfr847	T	C	9: 19,374,941	*313W	probably null	Het
Pcdhb5	T	A	18: 37,320,880	H104Q	probably benign	Het
Phf11a	T	C	14: 59,277,537	R232G	probably damaging	Het
Pik3r5	C	T	11: 68,492,789	T478I	probably benign	Het
Prkacb	T	A	3: 146,732,646	E380V	probably damaging	Het
Prl7c1	G	T	13: 27,773,793	D221E	probably damaging	Het
Prr11	T	A	11: 87,106,124	K5*	probably null	Het
Prrc2b	G	A	2: 32,222,320	G1932D	probably damaging	Het
Rexo1	A	T	10: 80,543,011	Y1064N	possibly damaging	Het
Rnf182	C	T	13: 43,668,671	Q233*	probably null	Het
Rsf1	G	A	7: 97,579,910		probably benign	Het
Sash1	C	G	10: 8,729,527	G1033A	probably benign	Het
Sncaip	C	A	18: 52,906,537	S189*	probably null	Het
Sorl1	T	C	9: 42,071,234	Y350C	probably damaging	Het
Speg	T	C	1: 75,406,684	V1141A	possibly damaging	Het
Speg	C	A	1: 75,429,523	D3091E	possibly damaging	Het
Sucnr1	A	T	3: 60,086,723	D224V	probably benign	Het
Tg	G	A	15: 66,759,558	A559T	probably damaging	Het
Tmem132d	A	G	5: 127,784,438	I873T	probably benign	Het
Tmem229a	C	T	6: 24,954,921	C278Y	probably damaging	Het
Togaram1	T	C	12: 64,966,590	I205T	possibly damaging	Het
Usp19	T	A	9: 108,496,883	L713Q	probably damaging	Het
Vsig10	A	G	5: 117,351,759	D530G	possibly damaging	Het
Zfp106	A	G	2: 120,534,502	S475P	probably damaging	Het

Other mutations in Itgb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00332:Itgb2	APN	10	77557406	missense	probably damaging	1.00
IGL00427:Itgb2	APN	10	77557956	missense	probably benign	0.13
IGL00500:Itgb2	APN	10	77564724	missense	probably damaging	1.00
IGL01019:Itgb2	APN	10	77542403	missense	possibly damaging	0.94
IGL01104:Itgb2	APN	10	77547194	splice site	probably null
IGL01111:Itgb2	APN	10	77542000	missense	probably damaging	0.98
IGL01574:Itgb2	APN	10	77557964	missense	possibly damaging	0.82
IGL02087:Itgb2	APN	10	77559696	missense	possibly damaging	0.94
IGL02132:Itgb2	APN	10	77550061	missense	probably damaging	1.00
IGL02325:Itgb2	APN	10	77547192	missense	probably damaging	1.00
IGL02505:Itgb2	APN	10	77547218	missense	probably damaging	1.00
IGL02590:Itgb2	APN	10	77559513	missense	probably damaging	1.00
IGL02735:Itgb2	APN	10	77549999	missense	possibly damaging	0.81
barely	UTSW	10	77548536	splice site	probably benign
fresh	UTSW	10	77556161	missense	probably damaging	0.98
joker	UTSW	10	77549849	intron	probably benign
newhome	UTSW	10	77559681	missense	probably benign	0.00
nibbler	UTSW	10	77561216	critical splice donor site	probably null
Only_just	UTSW	10	77549968	missense	possibly damaging	0.80
trout	UTSW	10	77565188	missense	probably damaging	1.00
R0217:Itgb2	UTSW	10	77548536	splice site	probably benign
R0394:Itgb2	UTSW	10	77542475	missense	probably damaging	1.00
R0396:Itgb2	UTSW	10	77561189	missense	probably damaging	0.97
R1425:Itgb2	UTSW	10	77547296	missense	probably null	1.00
R1499:Itgb2	UTSW	10	77546153	missense	possibly damaging	0.62
R1542:Itgb2	UTSW	10	77559486	missense	probably benign
R1803:Itgb2	UTSW	10	77564790	missense	probably benign	0.15
R1889:Itgb2	UTSW	10	77548623	missense	possibly damaging	0.74
R2035:Itgb2	UTSW	10	77547199	missense	probably damaging	1.00
R2156:Itgb2	UTSW	10	77560248	missense	probably benign	0.01
R2374:Itgb2	UTSW	10	77559681	missense	probably benign	0.00
R3769:Itgb2	UTSW	10	77549968	missense	possibly damaging	0.80
R3942:Itgb2	UTSW	10	77558033	missense	probably benign	0.31
R4352:Itgb2	UTSW	10	77556167	missense	probably benign	0.10
R4537:Itgb2	UTSW	10	77561216	critical splice donor site	probably null
R4600:Itgb2	UTSW	10	77546115	missense	probably benign
R4611:Itgb2	UTSW	10	77550050	missense	probably damaging	1.00
R4685:Itgb2	UTSW	10	77550103	critical splice donor site	probably null
R4717:Itgb2	UTSW	10	77546044	nonsense	probably null
R5068:Itgb2	UTSW	10	77548761	missense	probably damaging	1.00
R5297:Itgb2	UTSW	10	77564667	missense	probably damaging	1.00
R5355:Itgb2	UTSW	10	77558052	missense	probably benign
R5927:Itgb2	UTSW	10	77546034	missense	probably damaging	1.00
R6371:Itgb2	UTSW	10	77548597	missense	probably damaging	1.00
R7305:Itgb2	UTSW	10	77548564	missense	probably damaging	1.00
R7574:Itgb2	UTSW	10	77560158	missense	probably benign	0.18
R7606:Itgb2	UTSW	10	77556161	missense	probably damaging	0.98
R7772:Itgb2	UTSW	10	77561112	missense	probably benign
R7888:Itgb2	UTSW	10	77564644	missense	probably benign	0.00
R8716:Itgb2	UTSW	10	77557953	missense	probably damaging	0.99
R8933:Itgb2	UTSW	10	77565188	missense	probably damaging	1.00
R9082:Itgb2	UTSW	10	77548669	missense	probably damaging	1.00
Z1176:Itgb2	UTSW	10	77557962	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CTCCCACATCATACCAGGTGTG -3'
(R):5'- GGACATGACTATTCCCCTCCAC -3'

Sequencing Primer
(F):5'- CACATCATACCAGGTGTGAGTCTG -3'
(R):5'- CCTTCCCAGGACAACGCTG -3'

Posted On

2018-06-22