Incidental Mutation 'R5454:Itih2'
ID 432650
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 043018-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # R5454 (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 10102804 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 777 (I777V)
Ref Sequence ENSEMBL: ENSMUSP00000046530 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042290]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000042290
AA Change: I777V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000046530
Gene: ENSMUSG00000037254
AA Change: I777V

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 0.0988 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 100% (60/60)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930579C12Rik T C 9: 89,051,041 (GRCm39) noncoding transcript Het
Ankfy1 A T 11: 72,637,757 (GRCm39) H483L probably benign Het
Ankrd46 C T 15: 36,479,447 (GRCm39) G215R probably damaging Het
Apobec1 T C 6: 122,558,327 (GRCm39) I143V probably benign Het
Atp2b4 C A 1: 133,657,610 (GRCm39) V627F probably damaging Het
Ccdc80 T A 16: 44,947,588 (GRCm39) Y855* probably null Het
Cd209b T C 8: 3,975,396 (GRCm39) E88G probably damaging Het
Ceacam14 T G 7: 17,548,110 (GRCm39) W67G probably damaging Het
Cope T C 8: 70,757,306 (GRCm39) V50A probably benign Het
Dcaf13 C A 15: 38,987,759 (GRCm39) D168E probably benign Het
Dhcr7 T G 7: 143,391,576 (GRCm39) M55R probably damaging Het
Enpp7 A T 11: 118,879,634 (GRCm39) Y96F probably benign Het
Esco1 T C 18: 10,584,327 (GRCm39) D60G probably benign Het
Fgfr3 G A 5: 33,880,642 (GRCm39) probably benign Het
Frzb T C 2: 80,248,259 (GRCm39) D280G probably damaging Het
Gcat A G 15: 78,920,610 (GRCm39) I317V probably benign Het
Gm13030 A T 4: 138,600,820 (GRCm39) probably benign Het
Gmds A G 13: 32,312,024 (GRCm39) L135P probably damaging Het
Htra2 G A 6: 83,030,995 (GRCm39) P138L probably damaging Het
Il5 A G 11: 53,614,626 (GRCm39) N89S probably damaging Het
Ints3 G A 3: 90,315,834 (GRCm39) T310M possibly damaging Het
Kctd9 T C 14: 67,977,836 (GRCm39) L382S probably damaging Het
Loricrin A G 3: 91,988,789 (GRCm39) S166P unknown Het
Mga T A 2: 119,733,810 (GRCm39) N219K probably damaging Het
Mtmr4 A T 11: 87,501,868 (GRCm39) R641* probably null Het
Muc6 C T 7: 141,235,078 (GRCm39) A611T possibly damaging Het
Obox3-ps8 A T 17: 36,763,903 (GRCm39) noncoding transcript Het
Or5p54 A T 7: 107,554,096 (GRCm39) M83L probably benign Het
Otud4 C T 8: 80,377,671 (GRCm39) L111F possibly damaging Het
Pcdhga12 T A 18: 37,899,314 (GRCm39) S49T possibly damaging Het
Pcdhgc3 A G 18: 37,941,549 (GRCm39) D650G probably damaging Het
Pcmt1 A G 10: 7,516,509 (GRCm39) V167A probably damaging Het
Pcnt A T 10: 76,225,381 (GRCm39) probably null Het
Pcx G T 19: 4,652,504 (GRCm39) V164F probably damaging Het
Plekhg4 T C 8: 106,102,745 (GRCm39) probably null Het
Pmch A G 10: 87,927,707 (GRCm39) E136G probably damaging Het
Prkar1a A G 11: 109,550,886 (GRCm39) D80G probably benign Het
Ryr3 T C 2: 112,560,647 (GRCm39) probably null Het
Slc10a7 T C 8: 79,413,253 (GRCm39) S171P possibly damaging Het
Sox6 A T 7: 115,301,008 (GRCm39) M153K possibly damaging Het
Srgap2 T C 1: 131,217,475 (GRCm39) I946V probably benign Het
Strbp T C 2: 37,535,495 (GRCm39) E71G probably benign Het
Synpo2l C A 14: 20,712,360 (GRCm39) A87S probably damaging Het
Tnrc18 T C 5: 142,757,446 (GRCm39) D1025G unknown Het
Tnxb A G 17: 34,928,599 (GRCm39) H2671R possibly damaging Het
Tor1b GGACG GG 2: 30,846,957 (GRCm39) probably benign Het
Umodl1 A T 17: 31,205,439 (GRCm39) D649V possibly damaging Het
Usp13 G T 3: 32,959,585 (GRCm39) A559S probably damaging Het
Vps45 G A 3: 95,926,969 (GRCm39) P526L probably benign Het
Zfp687 A G 3: 94,916,457 (GRCm39) V855A probably damaging Het
Zfp771 T A 7: 126,853,448 (GRCm39) C205S 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
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
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'- TCAGCGTCCTTGTATCTAAAAGGAC -3'
(R):5'- ACATTGTTGACTTGCCAGGC -3'

Sequencing Primer
(F):5'- CCTTGTATCTAAAAGGACGGCTG -3'
(R):5'- GGCTTTATAAATACAAACTGTGGTGC -3'
Posted On 2016-10-06