Incidental Mutation 'R7102:Itih2'
ID 550874
Institutional Source Beutler Lab
Gene Symbol Itih2
Ensembl Gene ENSMUSG00000037254
Gene Name inter-alpha trypsin inhibitor, heavy chain 2
Synonyms Itih-2, Intin2
MMRRC Submission 045194-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # R7102 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 10099408-10135492 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 10110574 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 506 (Q506K)
Ref Sequence ENSEMBL: ENSMUSP00000046530 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042290] [ENSMUST00000155809]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000042290
AA Change: Q506K

PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000046530
Gene: ENSMUSG00000037254
AA Change: Q506K

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
VIT 60 189 4.35e-77 SMART
VWA 312 498 6.6e-32 SMART
Pfam:ITI_HC_C 740 925 1.7e-75 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000155809
SMART Domains Protein: ENSMUSP00000124636
Gene: ENSMUSG00000037254

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
VIT 60 189 4.35e-77 SMART
VWA 312 452 4.51e-7 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The inter-alpha-trypsin inhibitors (ITI) are a family of structurally related plasma serine protease inhibitors involved in extracellular matrix stabilization and in prevention of tumor metastasis. The ITI family contains multiple proteins made up of a light chain (see MIM 176870) and a variable number of heavy chains (Salier et al., 1987 [PubMed 2446322]; Himmelfarb et al., 2004 [PubMed 14744536]).[supplied by OMIM, Nov 2009]
Allele List at MGI
Other mutations in this stock
Total: 98 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,285,215 (GRCm39) H3283L probably damaging Het
Abcb1a T G 5: 8,744,072 (GRCm39) S233A probably benign Het
Actr10 T C 12: 70,999,805 (GRCm39) probably null Het
Acvr2b C T 9: 119,261,619 (GRCm39) A380V probably damaging Het
Adcy5 A G 16: 35,119,995 (GRCm39) E1168G probably damaging Het
Akap12 C T 10: 4,303,226 (GRCm39) T117I probably damaging Het
Alox5 T A 6: 116,390,429 (GRCm39) Y516F probably benign Het
Amigo2 T C 15: 97,143,741 (GRCm39) N227S probably damaging Het
Anpep C A 7: 79,486,061 (GRCm39) V554L probably benign Het
Ap5b1 T A 19: 5,620,215 (GRCm39) V545E possibly damaging Het
Bbs9 C T 9: 22,490,849 (GRCm39) L326F probably damaging Het
Bltp1 T G 3: 36,994,947 (GRCm39) Y990D probably damaging Het
Cadps C T 14: 12,603,738 (GRCm38) G361R probably damaging Het
Ccdc57 C A 11: 120,812,557 (GRCm39) E66* probably null Het
Ccr6 G A 17: 8,475,019 (GRCm39) V75I probably benign Het
Cdk6 T C 5: 3,570,709 (GRCm39) F300S probably damaging Het
Cenpb A C 2: 131,020,799 (GRCm39) V333G probably damaging Het
Clca4a T C 3: 144,667,670 (GRCm39) I434V probably benign Het
Coro2b T A 9: 62,328,667 (GRCm39) D447V possibly damaging Het
Cpeb3 T C 19: 37,152,119 (GRCm39) S86G probably benign Het
Cry2 C A 2: 92,243,438 (GRCm39) A468S probably damaging Het
Csf2rb2 T C 15: 78,181,272 (GRCm39) Y40C probably damaging Het
Ddx49 T A 8: 70,753,726 (GRCm39) T48S probably damaging Het
Dennd10 T A 19: 60,821,034 (GRCm39) M272K probably damaging Het
Dip2c A G 13: 9,654,572 (GRCm39) T727A probably benign Het
Dnai3 A T 3: 145,761,459 (GRCm39) S632R possibly damaging Het
Ebf4 A T 2: 130,151,651 (GRCm39) I183F probably benign Het
Elavl3 G T 9: 21,930,025 (GRCm39) P293Q possibly damaging Het
Esyt1 A T 10: 128,352,105 (GRCm39) L768Q probably damaging Het
Fat2 G A 11: 55,174,260 (GRCm39) P2151L probably damaging Het
Fgfbp3 G T 19: 36,896,606 (GRCm39) A4E possibly damaging Het
Flg T A 3: 93,200,335 (GRCm39) V277D unknown Het
Fndc3b T C 3: 27,524,383 (GRCm39) D459G possibly damaging Het
Fras1 A G 5: 96,718,900 (GRCm39) Q438R probably benign Het
Glipr1l2 A T 10: 111,928,330 (GRCm39) probably null Het
Gm7347 T A 5: 26,262,382 (GRCm39) probably null Het
Grm6 G A 11: 50,753,804 (GRCm39) V703I possibly damaging Het
Gtf2h1 T A 7: 46,468,550 (GRCm39) V496E probably benign Het
Ifna12 A G 4: 88,521,388 (GRCm39) L53P probably damaging Het
Invs T A 4: 48,407,674 (GRCm39) S550T probably benign Het
Irak2 G T 6: 113,663,810 (GRCm39) C453F probably damaging Het
Kidins220 T C 12: 25,107,662 (GRCm39) I1614T probably benign Het
Krtap5-3 T A 7: 141,755,992 (GRCm39) C276* probably null Het
Lama3 T A 18: 12,685,870 (GRCm39) M1128K possibly damaging Het
Lhfpl4 C T 6: 113,171,106 (GRCm39) A27T possibly damaging Het
Lyplal1 A G 1: 185,832,524 (GRCm39) V77A probably damaging Het
Malrd1 A T 2: 16,147,114 (GRCm39) E1985D unknown Het
Mlx A C 11: 100,979,802 (GRCm39) Q161P probably benign Het
Mroh2b T A 15: 4,977,485 (GRCm39) M1279K probably benign Het
Myh7b A G 2: 155,464,119 (GRCm39) E540G probably damaging Het
Neb T A 2: 52,194,067 (GRCm39) D653V probably damaging Het
Nek10 T A 14: 14,828,517 (GRCm38) L113Q probably damaging Het
Nlrp4c T A 7: 6,068,708 (GRCm39) L203* probably null Het
Nscme3l T A 19: 5,553,623 (GRCm39) T53S probably benign Het
Ntpcr T A 8: 126,456,794 (GRCm39) C5S unknown Het
Nwd1 A G 8: 73,421,957 (GRCm39) D1001G probably damaging Het
Or12j5 T A 7: 140,084,229 (GRCm39) T48S probably benign Het
Or14a256 C T 7: 86,265,475 (GRCm39) C126Y probably benign Het
Or4p22 T A 2: 88,317,492 (GRCm39) C139S probably damaging Het
Or6c208 A C 10: 129,224,036 (GRCm39) D178A probably damaging Het
Osbpl3 T A 6: 50,297,115 (GRCm39) S564C probably damaging Het
Pax6 C A 2: 105,522,604 (GRCm39) P264T probably damaging Het
Plppr4 T C 3: 117,116,832 (GRCm39) R342G probably damaging Het
Prg4 C T 1: 150,328,005 (GRCm39) C220Y probably damaging Het
Prune2 T A 19: 17,098,577 (GRCm39) D1360E probably benign Het
Ranbp2 T A 10: 58,299,772 (GRCm39) S469T probably damaging Het
Rbfox1 A T 16: 7,187,698 (GRCm39) K43N probably benign Het
Rgs22 T C 15: 36,122,459 (GRCm39) D25G probably damaging Het
Rnf113a2 G A 12: 84,464,545 (GRCm39) G146S probably damaging Het
Sbpl T A 17: 24,173,608 (GRCm39) K55* probably null Het
Scel G A 14: 103,781,268 (GRCm39) W138* probably null Het
Scgb2b19 T C 7: 32,979,711 (GRCm39) I12V probably null Het
Scn9a T A 2: 66,379,359 (GRCm39) M358L probably damaging Het
Sdk2 C A 11: 113,733,516 (GRCm39) E924* probably null Het
Sipa1l3 T C 7: 29,048,012 (GRCm39) Q1292R possibly damaging Het
Skint4 G A 4: 111,975,298 (GRCm39) G86D probably damaging Het
Slc28a3 C T 13: 58,736,028 (GRCm39) V57I probably benign Het
Slc9a4 T C 1: 40,662,559 (GRCm39) S609P probably damaging Het
Slc9a4 C T 1: 40,619,799 (GRCm39) P42S probably benign Het
Slitrk1 T A 14: 109,150,061 (GRCm39) T217S probably benign Het
Spindoc C T 19: 7,335,807 (GRCm39) R327H probably benign Het
Stk36 T C 1: 74,661,382 (GRCm39) S470P probably benign Het
Sypl1 C T 12: 33,024,254 (GRCm39) P196L probably benign Het
Tekt4 T A 17: 25,693,718 (GRCm39) I285N probably damaging Het
Tgm5 T A 2: 120,876,979 (GRCm39) I686F possibly damaging Het
Thsd4 C A 9: 59,883,587 (GRCm39) R933L probably damaging Het
Treml1 T A 17: 48,673,700 (GRCm39) I237N probably damaging Het
Txndc16 T C 14: 45,442,839 (GRCm39) I119V probably benign Het
Ubr3 C A 2: 69,728,166 (GRCm39) N176K probably damaging Het
Vit A G 17: 78,932,426 (GRCm39) Y511C probably damaging Het
Vwa5b2 G A 16: 20,422,984 (GRCm39) G994D probably benign Het
Wnk1 T C 6: 119,925,268 (GRCm39) T1648A unknown Het
Ythdf1 G A 2: 180,553,315 (GRCm39) T300I probably damaging Het
Zan A G 5: 137,452,462 (GRCm39) probably null Het
Zbbx A G 3: 75,019,401 (GRCm39) L103P probably benign Het
Zfp105 A G 9: 122,758,869 (GRCm39) D180G probably damaging Het
Zfp114 T A 7: 23,880,083 (GRCm39) L144Q possibly damaging Het
Zfp128 T C 7: 12,624,399 (GRCm39) C256R probably damaging Het
Other mutations in Itih2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01641:Itih2 APN 2 10,115,250 (GRCm39) missense probably benign 0.00
IGL01775:Itih2 APN 2 10,134,097 (GRCm39) missense probably benign 0.19
IGL02516:Itih2 APN 2 10,102,728 (GRCm39) missense probably benign 0.00
IGL02698:Itih2 APN 2 10,135,312 (GRCm39) missense probably damaging 1.00
IGL02747:Itih2 APN 2 10,102,756 (GRCm39) missense probably benign 0.35
IGL03162:Itih2 APN 2 10,131,055 (GRCm39) missense probably damaging 1.00
IGL03325:Itih2 APN 2 10,111,546 (GRCm39) missense probably damaging 1.00
R0226:Itih2 UTSW 2 10,120,110 (GRCm39) missense possibly damaging 0.71
R0316:Itih2 UTSW 2 10,110,057 (GRCm39) missense possibly damaging 0.67
R0415:Itih2 UTSW 2 10,110,426 (GRCm39) unclassified probably benign
R0612:Itih2 UTSW 2 10,122,205 (GRCm39) missense probably benign 0.16
R0625:Itih2 UTSW 2 10,128,225 (GRCm39) missense possibly damaging 0.49
R0766:Itih2 UTSW 2 10,102,735 (GRCm39) missense probably benign 0.21
R1312:Itih2 UTSW 2 10,102,735 (GRCm39) missense probably benign 0.21
R1322:Itih2 UTSW 2 10,114,333 (GRCm39) missense probably damaging 1.00
R1521:Itih2 UTSW 2 10,111,558 (GRCm39) missense probably damaging 1.00
R1544:Itih2 UTSW 2 10,110,025 (GRCm39) missense probably benign 0.27
R1622:Itih2 UTSW 2 10,106,890 (GRCm39) missense probably benign 0.00
R1649:Itih2 UTSW 2 10,110,546 (GRCm39) missense probably benign 0.37
R2064:Itih2 UTSW 2 10,135,385 (GRCm39) missense possibly damaging 0.83
R2378:Itih2 UTSW 2 10,099,698 (GRCm39) missense probably damaging 1.00
R2893:Itih2 UTSW 2 10,107,008 (GRCm39) missense possibly damaging 0.79
R3732:Itih2 UTSW 2 10,110,481 (GRCm39) missense probably benign 0.00
R3732:Itih2 UTSW 2 10,110,481 (GRCm39) missense probably benign 0.00
R3733:Itih2 UTSW 2 10,110,481 (GRCm39) missense probably benign 0.00
R4195:Itih2 UTSW 2 10,120,096 (GRCm39) missense probably damaging 1.00
R4405:Itih2 UTSW 2 10,111,548 (GRCm39) nonsense probably null
R4585:Itih2 UTSW 2 10,115,211 (GRCm39) missense probably benign 0.00
R4586:Itih2 UTSW 2 10,115,211 (GRCm39) missense probably benign 0.00
R4610:Itih2 UTSW 2 10,109,971 (GRCm39) missense probably damaging 0.96
R5311:Itih2 UTSW 2 10,115,346 (GRCm39) missense probably benign 0.01
R5361:Itih2 UTSW 2 10,101,272 (GRCm39) missense probably benign 0.09
R5436:Itih2 UTSW 2 10,110,007 (GRCm39) missense probably benign 0.00
R5454:Itih2 UTSW 2 10,102,804 (GRCm39) missense probably null 0.00
R5580:Itih2 UTSW 2 10,128,287 (GRCm39) missense probably damaging 1.00
R5621:Itih2 UTSW 2 10,107,616 (GRCm39) missense probably benign 0.00
R5846:Itih2 UTSW 2 10,102,714 (GRCm39) missense probably benign 0.00
R6083:Itih2 UTSW 2 10,113,705 (GRCm39) intron probably benign
R6190:Itih2 UTSW 2 10,103,318 (GRCm39) missense probably benign 0.37
R6198:Itih2 UTSW 2 10,103,352 (GRCm39) missense probably benign 0.00
R6469:Itih2 UTSW 2 10,128,224 (GRCm39) missense possibly damaging 0.65
R6816:Itih2 UTSW 2 10,110,517 (GRCm39) missense probably damaging 1.00
R6820:Itih2 UTSW 2 10,102,909 (GRCm39) missense probably benign 0.00
R6853:Itih2 UTSW 2 10,120,077 (GRCm39) missense probably damaging 1.00
R7173:Itih2 UTSW 2 10,109,974 (GRCm39) missense probably damaging 1.00
R7387:Itih2 UTSW 2 10,135,319 (GRCm39) missense possibly damaging 0.63
R8021:Itih2 UTSW 2 10,110,463 (GRCm39) missense probably benign
R8065:Itih2 UTSW 2 10,128,294 (GRCm39) missense probably damaging 0.99
R8067:Itih2 UTSW 2 10,128,294 (GRCm39) missense probably damaging 0.99
R8110:Itih2 UTSW 2 10,101,948 (GRCm39) missense probably damaging 0.98
R8721:Itih2 UTSW 2 10,111,619 (GRCm39) missense probably damaging 1.00
R8755:Itih2 UTSW 2 10,103,369 (GRCm39) missense probably damaging 1.00
R8785:Itih2 UTSW 2 10,102,780 (GRCm39) missense probably benign 0.03
R8868:Itih2 UTSW 2 10,132,600 (GRCm39) missense probably benign 0.10
R8919:Itih2 UTSW 2 10,102,822 (GRCm39) nonsense probably null
R9287:Itih2 UTSW 2 10,128,297 (GRCm39) missense possibly damaging 0.88
R9496:Itih2 UTSW 2 10,106,984 (GRCm39) missense probably benign 0.01
R9657:Itih2 UTSW 2 10,107,686 (GRCm39) missense probably damaging 0.99
RF012:Itih2 UTSW 2 10,122,214 (GRCm39) missense possibly damaging 0.72
Predicted Primers PCR Primer
(F):5'- TTGTTAACACAGAGACGGAGTGC -3'
(R):5'- GCCCAGAGTTCATGACAATGG -3'

Sequencing Primer
(F):5'- AGTTAGTATTTCTAGAATAAGCAGCG -3'
(R):5'- TGTCCCAGAGATCCCTGC -3'
Posted On 2019-05-15