Incidental Mutation 'R5846:Itih2'
ID 490470
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 044064-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # R5846 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 10099408-10135492 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 10102714 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 807 (R807G)
Ref Sequence ENSEMBL: ENSMUSP00000046530 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042290]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000042290
AA Change: R807G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000046530
Gene: ENSMUSG00000037254
AA Change: R807G

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
Meta Mutation Damage Score 0.0646 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.4%
Validation Efficiency 97% (67/69)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik T C 2: 68,562,377 (GRCm39) S335P unknown Het
Ace3 A T 11: 105,889,188 (GRCm39) I473F probably benign Het
Adcy2 T A 13: 68,886,707 (GRCm39) N281Y probably damaging Het
Adgra1 T A 7: 139,455,196 (GRCm39) W275R probably damaging Het
Apmap T C 2: 150,450,341 (GRCm39) D20G probably damaging Het
Arap2 T C 5: 62,807,116 (GRCm39) T1184A probably damaging Het
Atp13a2 T C 4: 140,722,907 (GRCm39) V303A possibly damaging Het
BC004004 A T 17: 29,501,282 (GRCm39) probably benign Het
C1s1 G A 6: 124,517,912 (GRCm39) P23S possibly damaging Het
C1s2 T A 6: 124,608,123 (GRCm39) N197Y probably damaging Het
Camsap3 A G 8: 3,653,980 (GRCm39) H539R probably damaging Het
Catsperb A T 12: 101,569,025 (GRCm39) N899I probably damaging Het
Cct4 T C 11: 22,951,354 (GRCm39) probably benign Het
Chrm2 A T 6: 36,500,385 (GRCm39) T81S probably damaging Het
Dnaaf3 A T 7: 4,526,686 (GRCm39) S464T possibly damaging Het
Dnah10 T A 5: 124,900,437 (GRCm39) I3898N possibly damaging Het
Dnah3 TTCCTC TTC 7: 119,550,244 (GRCm39) probably benign Het
Dnajc13 T C 9: 104,067,584 (GRCm39) K1187E probably damaging Het
Dock4 A T 12: 40,867,735 (GRCm39) D1437V probably damaging Het
Dst C T 1: 34,234,942 (GRCm39) Q3674* probably null Het
Eef1a2 T C 2: 180,794,776 (GRCm39) Y141C probably damaging Het
Fads3 G T 19: 10,030,397 (GRCm39) Q178H probably null Het
Fbxw22 T A 9: 109,215,829 (GRCm39) M140L probably benign Het
Fndc7 A G 3: 108,788,707 (GRCm39) I178T probably damaging Het
Foxd1 T C 13: 98,491,549 (GRCm39) M141T probably damaging Het
H4c2 T C 13: 23,941,215 (GRCm39) V71A possibly damaging Het
Havcr2 T C 11: 46,360,343 (GRCm39) I141T probably benign Het
Hectd1 A C 12: 51,820,618 (GRCm39) N1190K probably damaging Het
Hook3 T A 8: 26,534,355 (GRCm39) probably benign Het
Hpgd T A 8: 56,760,702 (GRCm39) I133N possibly damaging Het
Klhl35 G A 7: 99,122,094 (GRCm39) G65D probably damaging Het
Lrch4 C G 5: 137,631,919 (GRCm39) C48W probably damaging Het
Mafa A G 15: 75,619,627 (GRCm39) S49P probably benign Het
Magi1 A G 6: 93,662,584 (GRCm39) V1170A probably damaging Het
Mprip A T 11: 59,649,380 (GRCm39) K1028M probably damaging Het
Mtpn C T 6: 35,489,225 (GRCm39) D100N probably benign Het
Numb G T 12: 83,923,521 (GRCm39) probably benign Het
Obscn A G 11: 58,929,435 (GRCm39) L6063P probably damaging Het
Or2y6 A G 11: 52,103,881 (GRCm39) *312Q probably null Het
Or6c6c A T 10: 129,540,756 (GRCm39) N3I probably damaging Het
P3h3 A T 6: 124,834,157 (GRCm39) probably null Het
Pi4k2a A G 19: 42,103,477 (GRCm39) D329G probably benign Het
Ptch1 T C 13: 63,713,268 (GRCm39) probably benign Het
Samd9l A G 6: 3,376,754 (GRCm39) V169A probably benign Het
Sdk1 T C 5: 142,100,148 (GRCm39) Y1393H probably damaging Het
Slc18a3 T A 14: 32,185,880 (GRCm39) M168L probably benign Het
Smurf1 T C 5: 144,816,190 (GRCm39) T722A probably damaging Het
Ssr2 C T 3: 88,488,379 (GRCm39) P85L probably damaging Het
Syne2 G T 12: 76,074,898 (GRCm39) A4614S probably benign Het
Tgfbr3 C A 5: 107,288,521 (GRCm39) G380V possibly damaging Het
Tk1 G T 11: 117,706,748 (GRCm39) probably benign Het
Tmem245 A T 4: 56,903,241 (GRCm39) S610T probably benign Het
Tmtc2 A G 10: 105,107,302 (GRCm39) probably benign Het
Trim30b A G 7: 104,006,578 (GRCm39) Y93H possibly damaging Het
Tsks A G 7: 44,593,412 (GRCm39) D126G probably damaging Het
Ttn T A 2: 76,733,812 (GRCm39) probably benign Het
Usp15 A G 10: 123,017,647 (GRCm39) W50R probably damaging Het
Vmn2r55 A T 7: 12,404,492 (GRCm39) F304I probably benign Het
Xirp2 T A 2: 67,339,587 (GRCm39) D609E probably damaging Het
Zan C T 5: 137,392,638 (GRCm39) probably null 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
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
R7102:Itih2 UTSW 2 10,110,574 (GRCm39) missense probably benign 0.27
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'- TCACTGAGCCTTGTCAGTG -3'
(R):5'- TAGTCAACGGTCAGCTTATCGG -3'

Sequencing Primer
(F):5'- GTGAACACTGAAAACAATTCCTGG -3'
(R):5'- TCAGCTTATCGGCGCCAAGAG -3'
Posted On 2017-10-20