Incidental Mutation 'R1627:Itgb7'
ID 172576
Institutional Source Beutler Lab
Gene Symbol Itgb7
Ensembl Gene ENSMUSG00000001281
Gene Name integrin beta 7
Synonyms
MMRRC Submission 039664-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.220) question?
Stock # R1627 (G1)
Quality Score 176
Status Not validated
Chromosome 15
Chromosomal Location 102124430-102140379 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 102131911 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Proline at position 224 (Q224P)
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: Q224P

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000001327
Gene: ENSMUSG00000001281
AA Change: Q224P

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
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 89.0%
Validation Efficiency
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg3 A G 5: 105,083,880 (GRCm39) M630T probably benign Het
Anpep T C 7: 79,491,759 (GRCm39) I81V probably benign Het
Bub1 A G 2: 127,650,933 (GRCm39) S627P probably benign Het
C1s1 T A 6: 124,514,439 (GRCm39) N139I probably damaging Het
Car6 A T 4: 150,277,035 (GRCm39) V152D probably damaging Het
Cdh19 C A 1: 110,847,375 (GRCm39) M411I probably benign Het
Cep95 A G 11: 106,700,531 (GRCm39) E322G probably damaging Het
Chek1 C A 9: 36,625,737 (GRCm39) V303L probably benign Het
Dctn1 T A 6: 83,172,064 (GRCm39) I818N probably damaging Het
Dscaml1 T C 9: 45,664,445 (GRCm39) S2107P probably damaging Het
Dusp14 A G 11: 83,939,597 (GRCm39) I148T probably damaging Het
Eps15 A G 4: 109,227,754 (GRCm39) D645G probably damaging Het
Etl4 A G 2: 20,806,390 (GRCm39) N1153S possibly damaging Het
Fer1l6 A G 15: 58,513,728 (GRCm39) D1541G probably benign Het
Gm14496 A G 2: 181,640,571 (GRCm39) S513G probably damaging Het
H2-D1 G T 17: 35,482,471 (GRCm39) A64S possibly damaging Het
Hsd17b2 T A 8: 118,428,909 (GRCm39) F59I possibly damaging Het
Jak1 A G 4: 101,048,821 (GRCm39) probably null Het
Kdm1b G A 13: 47,217,707 (GRCm39) probably null Het
Lrp8 A G 4: 107,711,613 (GRCm39) I466V probably damaging Het
Mga A G 2: 119,795,043 (GRCm39) D2909G probably damaging Het
Nol8 T C 13: 49,814,980 (GRCm39) S345P probably benign Het
Nup210l T C 3: 90,051,476 (GRCm39) M540T probably benign Het
Obscn C T 11: 59,003,464 (GRCm39) R1370H probably benign Het
Or2ad1 A G 13: 21,327,125 (GRCm39) F34S probably damaging Het
Pbx3 A G 2: 34,065,965 (GRCm39) V375A probably benign Het
Ppp1r9a T C 6: 4,906,168 (GRCm39) V241A possibly damaging Het
Psmd6 C T 14: 14,112,539 (GRCm38) V354M probably damaging Het
Rab2a T C 4: 8,578,481 (GRCm39) F94L probably damaging Het
Rev1 T C 1: 38,094,571 (GRCm39) D949G probably damaging Het
Ric8a A G 7: 140,438,091 (GRCm39) D110G probably damaging Het
Rlf A T 4: 121,007,197 (GRCm39) D594E probably benign Het
Septin1 C A 7: 126,817,230 (GRCm39) probably null Het
Slco5a1 G C 1: 13,060,607 (GRCm39) P38R probably damaging Het
Snx33 C A 9: 56,833,241 (GRCm39) R276L probably damaging Het
Taf11 A T 17: 28,124,253 (GRCm39) D101E probably benign Het
Ttn A G 2: 76,764,564 (GRCm39) S3168P probably damaging Het
Uggt2 T C 14: 119,295,075 (GRCm39) E41G possibly damaging Het
Vmn2r80 A G 10: 79,030,249 (GRCm39) R692G probably damaging Het
Zfp763 A T 17: 33,240,758 (GRCm39) W24R probably damaging 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
R1999:Itgb7 UTSW 15 102,130,553 (GRCm39) missense probably damaging 1.00
R2150: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'- ATAACAACAGGTAGTCCTGGCCCC -3'
(R):5'- GTTTCTACACCCTTGACCCTGGATG -3'

Sequencing Primer
(F):5'- TAGTCCTGGCCCCAGACAG -3'
(R):5'- AAGCCTGGATGCTGCTG -3'
Posted On 2014-04-24