Incidental Mutation 'R3110:Itfg2'
ID477900
Institutional Source Beutler Lab
Gene Symbol Itfg2
Ensembl Gene ENSMUSG00000001518
Gene Nameintegrin alpha FG-GAP repeat containing 2
Synonyms
MMRRC Submission 040584-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.135) question?
Stock #R3110 (G1)
Quality Score225
Status Not validated
Chromosome6
Chromosomal Location128409444-128424931 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 128411669 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 285 (E285G)
Ref Sequence ENSEMBL: ENSMUSP00000145323 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001559] [ENSMUST00000001561] [ENSMUST00000120405] [ENSMUST00000123867] [ENSMUST00000142615] [ENSMUST00000203026] [ENSMUST00000203374] [ENSMUST00000203853] [ENSMUST00000204836] [ENSMUST00000204223]
AlphaFold Q91WI7
Predicted Effect probably damaging
Transcript: ENSMUST00000001559
AA Change: E317G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000001559
Gene: ENSMUSG00000001518
AA Change: E317G

DomainStartEndE-ValueType
Pfam:Itfg2 49 382 1e-158 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000001561
SMART Domains Protein: ENSMUSP00000001561
Gene: ENSMUSG00000001520

DomainStartEndE-ValueType
Pfam:Asp_protease 88 203 1.2e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120405
SMART Domains Protein: ENSMUSP00000113317
Gene: ENSMUSG00000001520

DomainStartEndE-ValueType
Pfam:Asp_protease 88 202 1.1e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000123867
SMART Domains Protein: ENSMUSP00000122558
Gene: ENSMUSG00000001520

DomainStartEndE-ValueType
Pfam:Asp_protease 105 218 4.1e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133994
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136631
Predicted Effect probably damaging
Transcript: ENSMUST00000142615
AA Change: E317G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000145111
Gene: ENSMUSG00000001518
AA Change: E317G

DomainStartEndE-ValueType
Pfam:Itfg2 49 358 1e-139 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000147155
SMART Domains Protein: ENSMUSP00000122305
Gene: ENSMUSG00000001520

DomainStartEndE-ValueType
low complexity region 96 111 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000203026
SMART Domains Protein: ENSMUSP00000145388
Gene: ENSMUSG00000001518

DomainStartEndE-ValueType
Pfam:Itfg2 49 130 3.9e-29 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203195
Predicted Effect probably damaging
Transcript: ENSMUST00000203374
AA Change: E285G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000145323
Gene: ENSMUSG00000001518
AA Change: E285G

DomainStartEndE-ValueType
Pfam:Itfg2 21 350 1.3e-147 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000203853
SMART Domains Protein: ENSMUSP00000145282
Gene: ENSMUSG00000001518

DomainStartEndE-ValueType
Pfam:Itfg2 49 85 3e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000203984
Predicted Effect probably benign
Transcript: ENSMUST00000204836
SMART Domains Protein: ENSMUSP00000144750
Gene: ENSMUSG00000001520

DomainStartEndE-ValueType
Pfam:Asp_protease 28 141 8.9e-6 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204362
Predicted Effect probably benign
Transcript: ENSMUST00000204223
SMART Domains Protein: ENSMUSP00000145012
Gene: ENSMUSG00000108011

DomainStartEndE-ValueType
low complexity region 6 19 N/A INTRINSIC
low complexity region 190 201 N/A INTRINSIC
Meta Mutation Damage Score 0.1797 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 98% (51/52)
MGI Phenotype PHENOTYPE: Mice homozygous for a gene trap allele exhibit abnormal B cell differentiation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930430A15Rik T G 2: 111,228,054 L131F probably damaging Het
Abca6 T A 11: 110,178,829 K1554* probably null Het
Acads T C 5: 115,117,698 H26R probably benign Het
Acer1 G A 17: 56,958,406 T141I probably damaging Het
Adam15 C G 3: 89,347,457 V99L probably benign Het
Ankrd13b A G 11: 77,477,505 V97A possibly damaging Het
Anpep T C 7: 79,841,972 T94A probably benign Het
Atp1a3 T C 7: 24,994,694 N345S probably damaging Het
Btn1a1 T A 13: 23,461,551 N216I possibly damaging Het
Cacna1s G A 1: 136,075,093 W62* probably null Het
Ccdc141 C T 2: 77,039,486 V892I probably benign Het
Ccdc180 T A 4: 45,900,470 I278K possibly damaging Het
Cdc7 T G 5: 106,974,698 probably null Het
Cpb1 C T 3: 20,265,357 V188M probably damaging Het
Dock5 A G 14: 67,857,922 I101T possibly damaging Het
Dqx1 T C 6: 83,058,972 V95A probably damaging Het
Dvl1 T A 4: 155,853,666 D90E probably damaging Het
Ebf1 T A 11: 44,643,398 probably benign Het
Fam135b T C 15: 71,464,030 I438M probably benign Het
Fam57a A G 11: 76,202,231 D33G probably benign Het
Fpr1 A T 17: 17,876,635 M364K probably benign Het
Gm14139 C G 2: 150,192,221 P185R probably damaging Het
Gm7030 T C 17: 36,129,146 Y32C probably damaging Het
Gm9932 A T 5: 100,198,935 unknown Het
Gpat4 G A 8: 23,180,155 P286L probably damaging Het
Gpx7 C A 4: 108,403,273 V109F probably damaging Het
Grhl2 T C 15: 37,336,347 probably null Het
Grn A G 11: 102,433,243 T53A probably benign Het
Hist1h1e T C 13: 23,621,846 probably benign Het
Hmgxb3 T C 18: 61,147,382 N683S probably damaging Het
Iigp1 T C 18: 60,390,911 I367T probably benign Het
Itgav T A 2: 83,792,571 C662* probably null Het
Jarid2 T A 13: 44,906,276 N661K probably damaging Het
Jmjd1c T A 10: 67,240,084 probably benign Het
Lipe T C 7: 25,398,423 T32A probably benign Het
Lrrk2 A G 15: 91,814,695 Y2475C probably benign Het
Mcc T C 18: 44,449,263 D607G probably damaging Het
Mip T A 10: 128,226,006 L42* probably null Het
Mlc1 A T 15: 88,965,996 D192E probably benign Het
Muc2 T C 7: 141,745,488 probably benign Het
Mybl1 T C 1: 9,681,870 D260G probably damaging Het
Ncln C T 10: 81,487,685 V51I probably benign Het
Nlrp9a T C 7: 26,557,872 V305A probably benign Het
Nodal G A 10: 61,424,497 R309Q possibly damaging Het
Olfr1338 A T 4: 118,754,224 F105I probably damaging Het
Olfr294 T C 7: 86,615,676 Y323C probably benign Het
Olfr536 A G 7: 140,503,919 I180T probably damaging Het
Olr1 T C 6: 129,499,918 N128S possibly damaging Het
Orc1 T A 4: 108,604,560 C585S probably benign Het
Pcmtd2 A T 2: 181,855,129 I300F probably damaging Het
Phactr3 T A 2: 178,279,017 L180Q possibly damaging Het
Pigo T C 4: 43,021,083 T612A probably benign Het
Plch1 T A 3: 63,709,531 D766V probably damaging Het
Plekhh3 T C 11: 101,164,147 probably benign Het
Ppp1r12b T A 1: 134,872,832 T547S probably damaging Het
Prkcb T A 7: 122,516,856 M186K probably damaging Het
Prpf3 A T 3: 95,849,800 probably benign Het
Psg23 T C 7: 18,610,444 D362G possibly damaging Het
Reg3a T C 6: 78,381,131 L15P probably damaging Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,579,904 probably benign Het
Scrib A T 15: 76,069,374 I5N probably damaging Het
Speg C T 1: 75,422,682 Q2005* probably null Het
Sppl3 A T 5: 115,074,864 S51C possibly damaging Het
Sspo A G 6: 48,457,600 T1009A probably damaging Het
Syce1l A G 8: 113,654,947 Q164R probably benign Het
Sympk T C 7: 19,034,484 V126A possibly damaging Het
Tas2r110 T A 6: 132,868,024 I6K unknown Het
Tas2r120 A T 6: 132,657,768 H271L probably damaging Het
Tnn T A 1: 160,116,286 T986S possibly damaging Het
Trim5 T C 7: 104,279,638 H32R probably damaging Het
Ttc13 A G 8: 124,683,834 I360T possibly damaging Het
Uaca A G 9: 60,871,499 E1054G probably damaging Het
Usp16 T A 16: 87,471,848 probably null Het
Wee1 T A 7: 110,130,836 S382R probably damaging Het
Wnt11 T C 7: 98,846,564 S92P probably damaging Het
Zfp786 A G 6: 47,820,226 C593R probably damaging Het
Zfp879 T G 11: 50,833,162 I283L possibly damaging Het
Other mutations in Itfg2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02088:Itfg2 APN 6 128411606 missense probably benign 0.02
IGL02111:Itfg2 APN 6 128410381 missense probably benign 0.01
IGL02337:Itfg2 APN 6 128413570 missense probably benign 0.02
IGL02611:Itfg2 APN 6 128424725 missense probably damaging 1.00
R0492:Itfg2 UTSW 6 128413523 critical splice donor site probably null
R1462:Itfg2 UTSW 6 128424728 missense probably damaging 1.00
R1462:Itfg2 UTSW 6 128424728 missense probably damaging 1.00
R2960:Itfg2 UTSW 6 128413552 missense probably benign 0.33
R3112:Itfg2 UTSW 6 128411669 missense probably damaging 1.00
R4067:Itfg2 UTSW 6 128410450 intron probably benign
R4866:Itfg2 UTSW 6 128416316 intron probably benign
R4900:Itfg2 UTSW 6 128416316 intron probably benign
R6623:Itfg2 UTSW 6 128411657 missense probably damaging 1.00
R6979:Itfg2 UTSW 6 128411591 missense probably damaging 1.00
R7031:Itfg2 UTSW 6 128416054 missense probably damaging 0.99
R7162:Itfg2 UTSW 6 128410583 missense probably damaging 0.98
R7660:Itfg2 UTSW 6 128424746 missense probably damaging 0.99
R7884:Itfg2 UTSW 6 128416381 intron probably benign
R8750:Itfg2 UTSW 6 128412792 critical splice acceptor site probably null
R8862:Itfg2 UTSW 6 128417705 missense probably damaging 1.00
R9124:Itfg2 UTSW 6 128424807 missense probably damaging 1.00
Predicted Primers
Posted On2017-05-15