Incidental Mutation 'R3112:Itfg2'
ID 263734
Institutional Source Beutler Lab
Gene Symbol Itfg2
Ensembl Gene ENSMUSG00000001518
Gene Name integrin alpha FG-GAP repeat containing 2
Synonyms 2700050P07Rik
MMRRC Submission 040585-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.123) question?
Stock # R3112 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 128386407-128401873 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 128388632 bp (GRCm39)
Zygosity Heterozygous
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] [ENSMUST00000203374] [ENSMUST00000204836] [ENSMUST00000204223] [ENSMUST00000203026] [ENSMUST00000203853]
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 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: 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
Predicted Effect probably benign
Transcript: ENSMUST00000203026
SMART Domains Protein: ENSMUSP00000145388
Gene: ENSMUSG00000001518

DomainStartEndE-ValueType
Pfam:Itfg2 49 130 3.9e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000203853
SMART Domains Protein: ENSMUSP00000145282
Gene: ENSMUSG00000001518

DomainStartEndE-ValueType
Pfam:Itfg2 49 85 3e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203195
Predicted Effect probably benign
Transcript: ENSMUST00000203984
Predicted Effect probably benign
Transcript: ENSMUST00000147155
SMART Domains Protein: ENSMUSP00000122305
Gene: ENSMUSG00000001520

DomainStartEndE-ValueType
low complexity region 96 111 N/A INTRINSIC
Meta Mutation Damage Score 0.1797 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 100% (38/38)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T A 11: 110,069,655 (GRCm39) K1554* probably null Het
Acads T C 5: 115,255,757 (GRCm39) H26R probably benign Het
Acer1 G A 17: 57,265,406 (GRCm39) T141I probably damaging Het
Adam15 C G 3: 89,254,764 (GRCm39) V99L probably benign Het
Ankrd13b A G 11: 77,368,331 (GRCm39) V97A possibly damaging Het
Anpep T C 7: 79,491,720 (GRCm39) T94A probably benign Het
Atp1a3 T C 7: 24,694,119 (GRCm39) N345S probably damaging Het
Btn1a1 T A 13: 23,645,721 (GRCm39) N216I possibly damaging Het
Cacna1s G A 1: 136,002,831 (GRCm39) W62* probably null Het
Ccdc141 C T 2: 76,869,830 (GRCm39) V892I probably benign Het
Ccdc180 T A 4: 45,900,470 (GRCm39) I278K possibly damaging Het
Cdc7 T G 5: 107,122,564 (GRCm39) probably null Het
Cpb1 C T 3: 20,319,521 (GRCm39) V188M probably damaging Het
Dock5 A G 14: 68,095,371 (GRCm39) I101T possibly damaging Het
Dqx1 T C 6: 83,035,953 (GRCm39) V95A probably damaging Het
Dvl1 T A 4: 155,938,123 (GRCm39) D90E probably damaging Het
Fam135b T C 15: 71,335,879 (GRCm39) I438M probably benign Het
Fpr1 A T 17: 18,096,897 (GRCm39) M364K probably benign Het
Gpat4 G A 8: 23,670,171 (GRCm39) P286L probably damaging Het
Gpx7 C A 4: 108,260,470 (GRCm39) V109F probably damaging Het
Grhl2 T C 15: 37,336,591 (GRCm39) probably null Het
Grn A G 11: 102,324,069 (GRCm39) T53A probably benign Het
H1f4 T C 13: 23,805,829 (GRCm39) probably benign Het
H2-T9 T C 17: 36,440,038 (GRCm39) Y32C probably damaging Het
Hmgxb3 T C 18: 61,280,454 (GRCm39) N683S probably damaging Het
Iigp1 T C 18: 60,523,983 (GRCm39) I367T probably benign Het
Itgav T A 2: 83,622,915 (GRCm39) C662* probably null Het
Jarid2 T A 13: 45,059,752 (GRCm39) N661K probably damaging Het
Lipe T C 7: 25,097,848 (GRCm39) T32A probably benign Het
Lrrk2 A G 15: 91,698,898 (GRCm39) Y2475C probably benign Het
Mcc T C 18: 44,582,330 (GRCm39) D607G probably damaging Het
Mip T A 10: 128,061,875 (GRCm39) L42* probably null Het
Mlc1 A T 15: 88,850,199 (GRCm39) D192E probably benign Het
Muc2 T C 7: 141,299,225 (GRCm39) probably benign Het
Mybl1 T C 1: 9,752,095 (GRCm39) D260G probably damaging Het
Ncln C T 10: 81,323,519 (GRCm39) V51I probably benign Het
Nlrp9a T C 7: 26,257,297 (GRCm39) V305A probably benign Het
Nodal G A 10: 61,260,276 (GRCm39) R309Q possibly damaging Het
Olr1 T C 6: 129,476,881 (GRCm39) N128S possibly damaging Het
Or10ak14 A T 4: 118,611,421 (GRCm39) F105I probably damaging Het
Or12j5 A G 7: 140,083,832 (GRCm39) I180T probably damaging Het
Or14a256 T C 7: 86,264,884 (GRCm39) Y323C probably benign Het
Orc1 T A 4: 108,461,757 (GRCm39) C585S probably benign Het
Pcmtd2 A T 2: 181,496,922 (GRCm39) I300F probably damaging Het
Pfkfb4 C T 9: 108,854,110 (GRCm39) probably benign Het
Phactr3 T A 2: 177,920,810 (GRCm39) L180Q possibly damaging Het
Pigo T C 4: 43,021,083 (GRCm39) T612A probably benign Het
Plch1 T A 3: 63,616,952 (GRCm39) D766V probably damaging Het
Plekhh3 T C 11: 101,054,973 (GRCm39) probably benign Het
Potefam1 T G 2: 111,058,399 (GRCm39) L131F probably damaging Het
Ppp1r12b T A 1: 134,800,570 (GRCm39) T547S probably damaging Het
Prkcb T A 7: 122,116,079 (GRCm39) M186K probably damaging Het
Prpf3 A T 3: 95,757,112 (GRCm39) probably benign Het
Psg23 T C 7: 18,344,369 (GRCm39) D362G possibly damaging Het
Reg3a T C 6: 78,358,114 (GRCm39) L15P probably damaging Het
Scrib A T 15: 75,941,223 (GRCm39) I5N probably damaging Het
Speg C T 1: 75,399,326 (GRCm39) Q2005* probably null Het
Sppl3 A T 5: 115,212,923 (GRCm39) S51C possibly damaging Het
Sspo A G 6: 48,434,534 (GRCm39) T1009A probably damaging Het
Syce1l A G 8: 114,381,579 (GRCm39) Q164R probably benign Het
Sympk T C 7: 18,768,409 (GRCm39) V126A possibly damaging Het
Tas2r110 T A 6: 132,844,987 (GRCm39) I6K unknown Het
Tas2r120 A T 6: 132,634,731 (GRCm39) H271L probably damaging Het
Tlcd3a A G 11: 76,093,057 (GRCm39) D33G probably benign Het
Tnn T A 1: 159,943,856 (GRCm39) T986S possibly damaging Het
Trim5 T C 7: 103,928,845 (GRCm39) H32R probably damaging Het
Ttc13 A G 8: 125,410,573 (GRCm39) I360T possibly damaging Het
Uaca A G 9: 60,778,781 (GRCm39) E1054G probably damaging Het
Usp16 T A 16: 87,268,736 (GRCm39) probably null Het
Wee1 T A 7: 109,730,043 (GRCm39) S382R probably damaging Het
Wnt11 T C 7: 98,495,771 (GRCm39) S92P probably damaging Het
Zfp1004 C G 2: 150,034,141 (GRCm39) P185R probably damaging Het
Zfp786 A G 6: 47,797,160 (GRCm39) C593R probably damaging Het
Zfp879 T G 11: 50,723,989 (GRCm39) I283L possibly damaging Het
Other mutations in Itfg2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02088:Itfg2 APN 6 128,388,569 (GRCm39) missense probably benign 0.02
IGL02111:Itfg2 APN 6 128,387,344 (GRCm39) missense probably benign 0.01
IGL02337:Itfg2 APN 6 128,390,533 (GRCm39) missense probably benign 0.02
IGL02611:Itfg2 APN 6 128,401,688 (GRCm39) missense probably damaging 1.00
pocket UTSW 6 128,388,554 (GRCm39) missense probably damaging 1.00
Sponge UTSW 6 128,393,279 (GRCm39) intron probably benign
teatotaler UTSW 6 128,388,632 (GRCm39) missense probably damaging 1.00
R0492:Itfg2 UTSW 6 128,390,486 (GRCm39) critical splice donor site probably null
R1462:Itfg2 UTSW 6 128,401,691 (GRCm39) missense probably damaging 1.00
R1462:Itfg2 UTSW 6 128,401,691 (GRCm39) missense probably damaging 1.00
R2960:Itfg2 UTSW 6 128,390,515 (GRCm39) missense probably benign 0.33
R3110:Itfg2 UTSW 6 128,388,632 (GRCm39) missense probably damaging 1.00
R4067:Itfg2 UTSW 6 128,387,413 (GRCm39) intron probably benign
R4866:Itfg2 UTSW 6 128,393,279 (GRCm39) intron probably benign
R4900:Itfg2 UTSW 6 128,393,279 (GRCm39) intron probably benign
R6623:Itfg2 UTSW 6 128,388,620 (GRCm39) missense probably damaging 1.00
R6979:Itfg2 UTSW 6 128,388,554 (GRCm39) missense probably damaging 1.00
R7031:Itfg2 UTSW 6 128,393,017 (GRCm39) missense probably damaging 0.99
R7162:Itfg2 UTSW 6 128,387,546 (GRCm39) missense probably damaging 0.98
R7660:Itfg2 UTSW 6 128,401,709 (GRCm39) missense probably damaging 0.99
R7884:Itfg2 UTSW 6 128,393,344 (GRCm39) intron probably benign
R8750:Itfg2 UTSW 6 128,389,755 (GRCm39) critical splice acceptor site probably null
R8862:Itfg2 UTSW 6 128,394,668 (GRCm39) missense probably damaging 1.00
R9124:Itfg2 UTSW 6 128,401,770 (GRCm39) missense probably damaging 1.00
R9576:Itfg2 UTSW 6 128,389,950 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- AGTCAACCACTTTCTGGCAC -3'
(R):5'- CACCCAGAGTCAAGTTCATGG -3'

Sequencing Primer
(F):5'- CTGGCACATTTACTAAGCTGGAG -3'
(R):5'- CAGAGTCAAGTTCATGGTCCTTTATG -3'
Posted On 2015-02-05