Incidental Mutation 'R2150:Itgb7'
ID 234226
Institutional Source Beutler Lab
Gene Symbol Itgb7
Ensembl Gene ENSMUSG00000001281
Gene Name integrin beta 7
Synonyms
MMRRC Submission 040153-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.220) question?
Stock # R2150 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 102124430-102140379 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 102130553 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 378 (V378M)
Ref Sequence ENSEMBL: ENSMUSP00000001327 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001327] [ENSMUST00000127014] [ENSMUST00000230652]
AlphaFold P26011
Predicted Effect probably damaging
Transcript: ENSMUST00000001327
AA Change: V378M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000001327
Gene: ENSMUSG00000001281
AA Change: V378M

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
PSI 44 92 6.35e-6 SMART
INB 50 476 2.82e-273 SMART
VWA 151 383 7.52e-2 SMART
low complexity region 537 557 N/A INTRINSIC
Pfam:EGF_2 605 635 2.6e-7 PFAM
Integrin_B_tail 645 721 4.22e-18 SMART
low complexity region 732 744 N/A INTRINSIC
Integrin_b_cyt 746 792 7.82e-22 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000127014
SMART Domains Protein: ENSMUSP00000123227
Gene: ENSMUSG00000001281

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
PSI 48 85 4.67e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000230652
Meta Mutation Damage Score 0.8856 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency 98% (59/60)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is a member of the integrin superfamily. Members of this family are adhesion receptors that function in signaling from the extracellular matrix to the cell. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. The encoded protein forms dimers with an alpha4 chain or an alphaE chain and plays a role in leukocyte adhesion. Dimerization with alpha4 forms a homing receptor for migration of lymphocytes to the intestinal mucosa and Peyer's patches. Dimerization with alphaE permits binding to the ligand epithelial cadherin, a calcium-dependent adhesion molecule. Alternate splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Sep 2013]
PHENOTYPE: Homozygous null mice display hypoplasia of gut-associated lymph tissue due to defects in lymphocyte migration [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402J07Rik C T 8: 88,312,691 (GRCm39) Q159* probably null Het
Abca12 C A 1: 71,302,647 (GRCm39) V2191L probably benign Het
Adam34 A G 8: 44,105,538 (GRCm39) Y36H probably benign Het
Adprm A G 11: 66,929,055 (GRCm39) V312A probably benign Het
Anapc2 T C 2: 25,162,682 (GRCm39) L52P probably benign Het
Anxa2 TCCC TCC 9: 69,397,036 (GRCm39) probably null Het
Apoc4 T A 7: 19,412,560 (GRCm39) T62S probably damaging Het
Arfgef1 C T 1: 10,270,103 (GRCm39) A349T probably benign Het
Arhgap32 A G 9: 32,027,436 (GRCm39) E2G possibly damaging Het
Atg4c C A 4: 99,109,463 (GRCm39) N143K possibly damaging Het
C1qtnf12 A G 4: 156,050,922 (GRCm39) N297S probably benign Het
Cadps2 G T 6: 23,838,998 (GRCm39) probably benign Het
Ccdc63 C G 5: 122,265,628 (GRCm39) A71P possibly damaging Het
Cdca2 T C 14: 67,952,258 (GRCm39) K38E probably damaging Het
Cyp2j11 G A 4: 96,204,595 (GRCm39) T317I probably damaging Het
Dab2 T C 15: 6,446,398 (GRCm39) V5A probably benign Het
Dennd3 A T 15: 73,426,909 (GRCm39) H762L probably benign Het
Disp1 A G 1: 182,869,936 (GRCm39) F828S probably damaging Het
Dnah2 T C 11: 69,406,587 (GRCm39) M552V probably benign Het
Dock2 A G 11: 34,179,472 (GRCm39) probably null Het
Dsel A T 1: 111,787,987 (GRCm39) N849K probably benign Het
Fah A T 7: 84,244,042 (GRCm39) I239N probably damaging Het
Flt4 T C 11: 49,536,824 (GRCm39) Y1265H probably benign Het
Ghdc T C 11: 100,660,018 (GRCm39) E243G probably benign Het
Glb1 T C 9: 114,279,716 (GRCm39) Y375H probably damaging Het
Gm6619 A G 6: 131,466,021 (GRCm39) I40V probably benign Het
Gpld1 T C 13: 25,146,630 (GRCm39) V225A probably benign Het
Hectd4 T C 5: 121,391,921 (GRCm39) probably benign Het
Igdcc4 A G 9: 65,032,617 (GRCm39) I542V possibly damaging Het
Igsf9b T C 9: 27,245,633 (GRCm39) L1200P probably damaging Het
Krt84 T C 15: 101,438,019 (GRCm39) E312G possibly damaging Het
Man2a2 A G 7: 80,017,532 (GRCm39) W250R probably damaging Het
Mcam T C 9: 44,047,932 (GRCm39) V59A probably damaging Het
Mfrp T C 9: 44,015,015 (GRCm39) L314P probably benign Het
Mgat5 T C 1: 127,396,987 (GRCm39) V578A probably damaging Het
Mycbp2 G A 14: 103,393,358 (GRCm39) H3068Y probably damaging Het
Myh1 A C 11: 67,113,234 (GRCm39) D1873A probably benign Het
Nek9 A G 12: 85,376,677 (GRCm39) W235R probably damaging Het
Or9g19 T C 2: 85,600,342 (GRCm39) S66P probably damaging Het
Parvb A G 15: 84,116,369 (GRCm39) K33E possibly damaging Het
Pecr T C 1: 72,316,517 (GRCm39) R63G possibly damaging Het
Pkhd1l1 T G 15: 44,363,378 (GRCm39) probably null Het
Plekha5 T C 6: 140,516,129 (GRCm39) V270A probably damaging Het
Prr14l T C 5: 32,988,046 (GRCm39) D483G probably benign Het
Rimkla T A 4: 119,331,779 (GRCm39) M140L possibly damaging Het
Senp1 C T 15: 97,956,196 (GRCm39) V408I possibly damaging Het
Stambpl1 T A 19: 34,204,104 (GRCm39) Y65N probably damaging Het
Tada2a T C 11: 83,970,455 (GRCm39) D432G probably damaging Het
Themis T A 10: 28,544,723 (GRCm39) I23N probably damaging Het
Thnsl1 T C 2: 21,217,344 (GRCm39) I366T probably benign Het
Tmem131 C A 1: 36,851,690 (GRCm39) V938L probably benign Het
Tmem178b A T 6: 40,184,435 (GRCm39) Q111L probably damaging Het
Vmn1r195 C G 13: 22,462,934 (GRCm39) L135V possibly damaging Het
Vmn2r-ps36 C T 7: 7,431,539 (GRCm39) noncoding transcript Het
Zfp956 G A 6: 47,940,805 (GRCm39) R388H probably damaging Het
Zfr2 T G 10: 81,077,950 (GRCm39) V259G probably benign Het
Other mutations in Itgb7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01012:Itgb7 APN 15 102,136,020 (GRCm39) missense probably benign 0.22
IGL01574:Itgb7 APN 15 102,135,975 (GRCm39) missense possibly damaging 0.83
IGL01814:Itgb7 APN 15 102,131,852 (GRCm39) missense possibly damaging 0.78
IGL01875:Itgb7 APN 15 102,126,430 (GRCm39) missense probably damaging 1.00
IGL01996:Itgb7 APN 15 102,126,412 (GRCm39) missense probably damaging 1.00
IGL02320:Itgb7 APN 15 102,132,772 (GRCm39) missense probably benign 0.04
IGL02541:Itgb7 APN 15 102,131,892 (GRCm39) missense probably benign 0.05
IGL02547:Itgb7 APN 15 102,126,945 (GRCm39) missense probably damaging 1.00
R0083:Itgb7 UTSW 15 102,131,917 (GRCm39) missense probably damaging 0.98
R0108:Itgb7 UTSW 15 102,131,917 (GRCm39) missense probably damaging 0.98
R0195:Itgb7 UTSW 15 102,130,618 (GRCm39) unclassified probably benign
R1033:Itgb7 UTSW 15 102,131,989 (GRCm39) missense probably damaging 1.00
R1627:Itgb7 UTSW 15 102,131,911 (GRCm39) missense probably damaging 0.97
R1999:Itgb7 UTSW 15 102,130,553 (GRCm39) missense probably damaging 1.00
R2331:Itgb7 UTSW 15 102,131,983 (GRCm39) missense probably damaging 1.00
R3747:Itgb7 UTSW 15 102,131,212 (GRCm39) missense probably damaging 1.00
R4758:Itgb7 UTSW 15 102,124,642 (GRCm39) missense probably benign 0.07
R4779:Itgb7 UTSW 15 102,132,848 (GRCm39) missense possibly damaging 0.54
R5134:Itgb7 UTSW 15 102,125,842 (GRCm39) missense probably damaging 1.00
R5158:Itgb7 UTSW 15 102,125,464 (GRCm39) missense probably benign 0.05
R5323:Itgb7 UTSW 15 102,140,059 (GRCm39) intron probably benign
R5416:Itgb7 UTSW 15 102,125,744 (GRCm39) missense probably benign 0.00
R5652:Itgb7 UTSW 15 102,124,638 (GRCm39) missense possibly damaging 0.48
R6089:Itgb7 UTSW 15 102,125,721 (GRCm39) missense probably benign 0.00
R6144:Itgb7 UTSW 15 102,131,917 (GRCm39) missense probably benign 0.45
R6384:Itgb7 UTSW 15 102,132,886 (GRCm39) missense probably benign 0.04
R6475:Itgb7 UTSW 15 102,124,701 (GRCm39) missense probably benign 0.12
R6754:Itgb7 UTSW 15 102,124,595 (GRCm39) makesense probably null
R6857:Itgb7 UTSW 15 102,131,900 (GRCm39) missense probably damaging 1.00
R7394:Itgb7 UTSW 15 102,127,689 (GRCm39) missense probably damaging 1.00
R7747:Itgb7 UTSW 15 102,125,039 (GRCm39) missense possibly damaging 0.88
R8014:Itgb7 UTSW 15 102,131,087 (GRCm39) missense probably damaging 1.00
R8446:Itgb7 UTSW 15 102,127,043 (GRCm39) missense probably damaging 1.00
R8523:Itgb7 UTSW 15 102,124,957 (GRCm39) missense probably damaging 0.99
R8962:Itgb7 UTSW 15 102,127,037 (GRCm39) missense probably damaging 1.00
R9051:Itgb7 UTSW 15 102,126,359 (GRCm39) missense possibly damaging 0.88
R9074:Itgb7 UTSW 15 102,132,797 (GRCm39) missense
R9105:Itgb7 UTSW 15 102,135,904 (GRCm39) missense probably damaging 1.00
R9369:Itgb7 UTSW 15 102,131,821 (GRCm39) missense probably damaging 1.00
R9378:Itgb7 UTSW 15 102,135,831 (GRCm39) critical splice donor site probably null
R9467:Itgb7 UTSW 15 102,131,989 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TACGAATAGCTAAGGGCAGCC -3'
(R):5'- GAGAGTTCTCTGAGGAAAGACTTC -3'

Sequencing Primer
(F):5'- CAGCCATGTGCAAACTGTAG -3'
(R):5'- GGAAAGACTTCCTGATCTATCCCG -3'
Posted On 2014-10-01