Incidental Mutation 'R6198:Itih2'
ID 503014
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 044338-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # R6198 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 10099408-10135492 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 10103352 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 712 (Y712H)
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: Y712H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000046530
Gene: ENSMUSG00000037254
AA Change: Y712H

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 99% (68/69)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik A T 3: 124,210,499 (GRCm39) probably null Het
2610318N02Rik A G 16: 16,936,233 (GRCm39) S164P probably damaging Het
Acsbg3 A G 17: 57,189,679 (GRCm39) S265G probably damaging Het
Acyp2 C T 11: 30,456,354 (GRCm39) E98K possibly damaging Het
Adam19 A C 11: 46,012,329 (GRCm39) N275T probably damaging Het
Adgrg7 T A 16: 56,597,556 (GRCm39) T84S possibly damaging Het
Asl C T 5: 130,047,757 (GRCm39) V70I probably benign Het
Atp2c1 A G 9: 105,398,271 (GRCm39) S26P probably benign Het
Bcas3 A T 11: 85,400,261 (GRCm39) D410V probably damaging Het
Cc2d1b C T 4: 108,490,422 (GRCm39) R825W probably damaging Het
Ccdc15 A C 9: 37,225,581 (GRCm39) probably null Het
Cfh A G 1: 140,033,178 (GRCm39) S789P probably damaging Het
Cltc T C 11: 86,611,188 (GRCm39) N561S probably benign Het
Cnst A G 1: 179,420,430 (GRCm39) Q187R probably damaging Het
Csmd3 T C 15: 48,177,273 (GRCm39) T422A probably benign Het
Cyp2c55 A T 19: 38,995,565 (GRCm39) R26* probably null Het
Dgkb A T 12: 38,223,822 (GRCm39) M414L probably benign Het
Dgkd A G 1: 87,851,930 (GRCm39) D444G probably damaging Het
Dipk1b A G 2: 26,525,710 (GRCm39) K215E probably damaging Het
Dnmt3c T C 2: 153,561,929 (GRCm39) V544A noncoding transcript Het
Dus3l A T 17: 57,074,858 (GRCm39) T327S possibly damaging Het
Elf2 A T 3: 51,184,670 (GRCm39) L5Q probably damaging Het
Fxyd6 A G 9: 45,301,968 (GRCm39) Y30C probably damaging Het
Gcc2 A T 10: 58,128,412 (GRCm39) T1375S probably benign Het
Git2 A T 5: 114,883,556 (GRCm39) Y393* probably null Het
Gm14403 AAACCCTA AA 2: 177,201,448 (GRCm39) probably benign Het
Golgb1 T C 16: 36,713,757 (GRCm39) L246P probably damaging Het
Grp G T 18: 66,013,057 (GRCm39) Q74H possibly damaging Het
Ifi203 A T 1: 173,751,648 (GRCm39) M391K probably damaging Het
Kdm5a T A 6: 120,415,958 (GRCm39) V1626E probably benign Het
Klhl40 A G 9: 121,607,833 (GRCm39) Y331C probably damaging Het
Kprp T A 3: 92,731,994 (GRCm39) Y352F probably damaging Het
Lama2 G T 10: 27,064,018 (GRCm39) H1286Q probably damaging Het
Lgi4 T A 7: 30,768,547 (GRCm39) probably null Het
Lrrc47 A T 4: 154,100,129 (GRCm39) N235I probably damaging Het
Lrrc74b T A 16: 17,366,650 (GRCm39) I308F probably damaging Het
Map7d1 T A 4: 126,135,636 (GRCm39) K135M probably damaging Het
Marchf5 A G 19: 37,188,140 (GRCm39) R36G probably damaging Het
Mtx3 C A 13: 92,989,359 (GRCm39) P299Q probably benign Het
Muc21 T A 17: 35,931,808 (GRCm39) probably benign Het
Ncapd2 C A 6: 125,156,286 (GRCm39) E500* probably null Het
Nckap5l T C 15: 99,323,869 (GRCm39) K878R probably damaging Het
Nphs1 T C 7: 30,167,340 (GRCm39) I756T probably damaging Het
Olfm4 T G 14: 80,237,813 (GRCm39) S17A probably benign Het
Or1j15 A G 2: 36,458,963 (GRCm39) M118V probably damaging Het
Or4b1 A T 2: 89,979,782 (GRCm39) D189E probably damaging Het
Pak1ip1 G T 13: 41,154,886 (GRCm39) Q27H probably benign Het
Piezo2 A T 18: 63,290,281 (GRCm39) C159* probably null Het
Pkn2 G T 3: 142,516,165 (GRCm39) T538K probably benign Het
Ppp3cc A T 14: 70,485,060 (GRCm39) M198K probably benign Het
Rrm1 T G 7: 102,095,936 (GRCm39) probably null Het
Setd3 T C 12: 108,131,427 (GRCm39) K7E possibly damaging Het
Shc1 A G 3: 89,329,414 (GRCm39) K86R probably benign Het
Slc16a7 T C 10: 125,064,084 (GRCm39) T418A probably benign Het
Spocd1 C T 4: 129,849,208 (GRCm39) P676S probably damaging Het
Spp1 A G 5: 104,587,374 (GRCm39) probably null Het
Syne1 A G 10: 5,252,269 (GRCm39) Y2462H probably damaging Het
Tiam2 T C 17: 3,464,396 (GRCm39) S42P probably benign Het
Tmem63b C T 17: 45,972,442 (GRCm39) V722I probably benign Het
Ubqln1 A G 13: 58,344,404 (GRCm39) S130P probably benign Het
Usp34 G T 11: 23,434,127 (GRCm39) L3215F probably damaging Het
Uvssa A G 5: 33,566,854 (GRCm39) Y517C probably damaging Het
Vps13d A T 4: 144,875,560 (GRCm39) F1649Y probably benign Het
Zfp236 A G 18: 82,675,278 (GRCm39) S405P probably damaging Het
Zfp9 T C 6: 118,454,282 (GRCm39) M1V probably null Het
Zfp946 A T 17: 22,673,896 (GRCm39) S217C probably damaging Het
Zfp970 T A 2: 177,167,253 (GRCm39) C276S probably damaging Het
Zswim5 T A 4: 116,735,204 (GRCm39) F183Y probably benign 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
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'- AGCTATAGTCTATCTAATGGGGTGAG -3'
(R):5'- CTGTGTAGTGTGAGATGAAAGC -3'

Sequencing Primer
(F):5'- CTGATTCTGGGTCAGACA -3'
(R):5'- GATTACAATCTTGCCTTCTGGAG -3'
Posted On 2018-02-27