Mutagenetix > Incidental Mutation

Incidental Mutation 'R1792:Itgb2l'

201874

Institutional Source

Beutler Lab

Gene Symbol

Itgb2l

Ensembl Gene

ENSMUSG00000000157

Gene Name

integrin beta 2-like

Synonyms

pactolus, 5033406G21Rik

MMRRC Submission

039822-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R1792 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

96223488-96244819 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 96226282 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 603 (C603F)

Ref Sequence

ENSEMBL: ENSMUSP00000000161 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000161] [ENSMUST00000113773] [ENSMUST00000113794] [ENSMUST00000113795] [ENSMUST00000131567] [ENSMUST00000136292]

AlphaFold

Q3UV74

Predicted Effect

probably damaging
Transcript: ENSMUST00000000161
AA Change: C603F

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

SMART Domains

Protein: ENSMUSP00000000161
Gene: ENSMUSG00000000157
AA Change: C603F

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: C603F

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000109403
Gene: ENSMUSG00000000157
AA Change: C603F

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 benign
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: 97.4%
3x: 96.8%
10x: 95.2%
20x: 92.4%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	C	T	11: 110,074,870 (GRCm39)	V1398I	probably benign	Het
Ackr3	A	T	1: 90,142,620 (GRCm39)	N360Y	probably benign	Het
Acr	T	G	15: 89,457,346 (GRCm39)	M198R	probably benign	Het
Adamts14	A	T	10: 61,054,277 (GRCm39)	M585K	probably benign	Het
Adgrb3	A	T	1: 25,267,552 (GRCm39)	C853S	probably damaging	Het
Arhgef28	G	T	13: 98,067,694 (GRCm39)	S1410R	probably benign	Het
Asprv1	T	A	6: 86,605,354 (GRCm39)	F67I	possibly damaging	Het
Atp8b4	T	A	2: 126,167,214 (GRCm39)	Y1095F	probably benign	Het
Cadps	A	G	14: 12,449,802 (GRCm38)	S1136P	possibly damaging	Het
Ccdc57	T	C	11: 120,788,707 (GRCm39)	Q380R	possibly damaging	Het
Cdc45	A	T	16: 18,626,090 (GRCm39)	D142E	probably benign	Het
Cs	A	T	10: 128,195,948 (GRCm39)	N386Y	possibly damaging	Het
Dsc3	A	T	18: 20,120,055 (GRCm39)	V201E	probably damaging	Het
Dusp26	G	T	8: 31,581,963 (GRCm39)	R19L	probably benign	Het
Esyt3	C	A	9: 99,240,169 (GRCm39)	E92*	probably null	Het
Ext2	T	C	2: 93,534,890 (GRCm39)	N625D	probably damaging	Het
Flvcr2	A	T	12: 85,793,929 (GRCm39)	K102*	probably null	Het
Fmnl2	T	A	2: 52,932,329 (GRCm39)	S103T	possibly damaging	Het
Fmo4	T	A	1: 162,621,859 (GRCm39)	I451F	probably benign	Het
Gak	A	T	5: 108,733,397 (GRCm39)	Y47*	probably null	Het
Gbp10	A	T	5: 105,372,166 (GRCm39)	L198Q	probably damaging	Het
Gm11559	T	A	11: 99,755,755 (GRCm39)	S135T	unknown	Het
Gm14496	A	T	2: 181,637,946 (GRCm39)	D340V	probably benign	Het
Grin2a	T	C	16: 9,810,259 (GRCm39)	T47A	possibly damaging	Het
Gtf2ird1	A	T	5: 134,395,790 (GRCm39)		probably null	Het
Herc4	T	A	10: 63,081,680 (GRCm39)	M1K	probably null	Het
Hirip3	T	A	7: 126,461,792 (GRCm39)	V29E	probably damaging	Het
Hs3st5	A	G	10: 36,708,720 (GRCm39)	D85G	probably benign	Het
Htt	T	A	5: 35,064,543 (GRCm39)	S2981T	probably damaging	Het
Iho1	A	C	9: 108,282,111 (GRCm39)	S526A	possibly damaging	Het
Il20ra	G	A	10: 19,635,384 (GRCm39)	V542I	probably damaging	Het
Klhl41	A	C	2: 69,501,146 (GRCm39)	K202N	probably benign	Het
Lct	G	A	1: 128,255,679 (GRCm39)	S121F	possibly damaging	Het
Lhx6	C	T	2: 35,977,387 (GRCm39)	G355D	probably damaging	Het
Limk2	A	G	11: 3,308,236 (GRCm39)	V121A	probably benign	Het
Med1	T	G	11: 98,048,109 (GRCm39)	K896Q	probably damaging	Het
Muc6	A	G	7: 141,214,371 (GRCm39)	F2789S	probably benign	Het
Nemf	T	A	12: 69,359,343 (GRCm39)	Y997F	probably damaging	Het
Nrap	A	G	19: 56,367,590 (GRCm39)	S296P	probably benign	Het
Nrxn1	T	C	17: 90,896,252 (GRCm39)	N961D	probably damaging	Het
Odad2	T	C	18: 7,286,743 (GRCm39)	T163A	probably benign	Het
Or1r1	A	C	11: 73,874,673 (GRCm39)	S254A	probably benign	Het
Or6c207	A	T	10: 129,105,112 (GRCm39)	F27I	probably benign	Het
Or6y1	T	C	1: 174,276,303 (GRCm39)	V38A	probably benign	Het
Parp14	G	A	16: 35,677,130 (GRCm39)	A946V	probably benign	Het
Pdk4	T	A	6: 5,489,166 (GRCm39)	H247L	probably damaging	Het
Pkd1l3	T	A	8: 110,359,237 (GRCm39)	V866E	probably damaging	Het
Pla2g4e	G	A	2: 119,998,955 (GRCm39)	P803L	probably damaging	Het
Pnisr	T	C	4: 21,860,968 (GRCm39)	V217A	possibly damaging	Het
Pole4	G	A	6: 82,629,720 (GRCm39)	P34L	unknown	Het
Pole4	G	T	6: 82,629,721 (GRCm39)	P34T	unknown	Het
Ptchd3	G	A	11: 121,732,377 (GRCm39)	W422*	probably null	Het
Rab1b	C	T	19: 5,150,513 (GRCm39)	A167T	probably benign	Het
Rasal1	T	C	5: 120,802,821 (GRCm39)	M359T	probably benign	Het
Rexo4	T	C	2: 26,850,248 (GRCm39)	N310D	probably benign	Het
Rgma	C	T	7: 73,067,585 (GRCm39)	T280M	probably damaging	Het
Rnaset2a	A	T	17: 8,364,408 (GRCm39)	I43N	probably damaging	Het
Rtcb	A	T	10: 85,778,446 (GRCm39)	V399E	probably damaging	Het
Scd4	T	G	19: 44,326,013 (GRCm39)	Y122*	probably null	Het
Sirt6	T	C	10: 81,462,355 (GRCm39)	I15V	possibly damaging	Het
Slamf8	A	T	1: 172,415,526 (GRCm39)	V104E	possibly damaging	Het
Slc12a4	A	G	8: 106,678,475 (GRCm39)	I285T	possibly damaging	Het
Slc25a13	G	A	6: 6,115,104 (GRCm39)	A207V	possibly damaging	Het
Slc6a21	T	C	7: 44,930,155 (GRCm39)	S185P	probably benign	Het
Smarcc2	A	C	10: 128,299,740 (GRCm39)	N135T	probably damaging	Het
Susd6	T	C	12: 80,921,065 (GRCm39)	S221P	probably damaging	Het
Syne1	C	T	10: 4,990,975 (GRCm39)	G8418D	probably damaging	Het
Tasor2	T	C	13: 3,640,559 (GRCm39)	K193E	possibly damaging	Het
Tbc1d7	C	T	13: 43,318,853 (GRCm39)	V95I	probably benign	Het
Tcerg1l	T	C	7: 137,963,595 (GRCm39)	D225G	probably benign	Het
Tfip11	A	T	5: 112,477,263 (GRCm39)	I82F	possibly damaging	Het
Tmem41a	C	T	16: 21,755,731 (GRCm39)	G192S	probably null	Het
Trrap	G	A	5: 144,790,396 (GRCm39)	A3619T	possibly damaging	Het
Tspoap1	G	A	11: 87,656,707 (GRCm39)		probably null	Het
Wfdc21	T	C	11: 83,637,883 (GRCm39)	S11P	probably benign	Het
Zc2hc1b	A	T	10: 13,044,474 (GRCm39)	V63E	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
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
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'- GGCCAGAGTTCTTATCACCATG -3'
(R):5'- GCATCCTGACACACTCATGC -3'

Sequencing Primer
(F):5'- ACCTAGGCTCTCCTTTATGTAGATGG -3'
(R):5'- CATCTTTGCATAGTGCTGAGAC -3'

Posted On

2014-06-23