Incidental Mutation 'R3702:Itgb1bp2'
ID258589
Institutional Source Beutler Lab
Gene Symbol Itgb1bp2
Ensembl Gene ENSMUSG00000031312
Gene Nameintegrin beta 1 binding protein 2
SynonymsChordc3, melusin
MMRRC Submission 040695-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.233) question?
Stock #R3702 (G1)
Quality Score222
Status Validated
ChromosomeX
Chromosomal Location101449088-101453541 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 101451687 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000033674 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033673] [ENSMUST00000033674]
Predicted Effect probably benign
Transcript: ENSMUST00000033673
SMART Domains Protein: ENSMUSP00000033673
Gene: ENSMUSG00000031311

DomainStartEndE-ValueType
low complexity region 19 38 N/A INTRINSIC
RRM 77 144 1.26e-20 SMART
RRM 151 227 1.31e-9 SMART
low complexity region 315 331 N/A INTRINSIC
low complexity region 337 370 N/A INTRINSIC
low complexity region 384 434 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000033674
SMART Domains Protein: ENSMUSP00000033674
Gene: ENSMUSG00000031312

DomainStartEndE-ValueType
Pfam:CHORD 3 64 3e-31 PFAM
Pfam:CHORD 148 209 1e-27 PFAM
Pfam:CS 219 295 7.1e-18 PFAM
low complexity region 319 346 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134783
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136251
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143946
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148312
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency 100% (38/38)
MGI Phenotype PHENOTYPE: Mutant animals show normal cardiac structure and function under physiological conditions. When subjected to pressure overload, mutant hearts display contractile dysfunction and dilated cardiomyopathy. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010111I01Rik A T 13: 63,015,330 N55I probably benign Het
9530053A07Rik G A 7: 28,157,778 V2184M probably damaging Het
Abca5 C T 11: 110,288,058 probably null Het
Cacna1a T G 8: 84,617,846 S1846A probably damaging Het
Cacna1i A T 15: 80,381,071 probably benign Het
Calhm3 T A 19: 47,151,748 D302V possibly damaging Het
Cluh A G 11: 74,665,356 M878V probably benign Het
Col24a1 C T 3: 145,337,860 H603Y probably benign Het
Commd1 T A 11: 22,974,057 L277H probably damaging Het
Cpped1 G T 16: 11,828,440 D135E probably damaging Het
Cul5 T C 9: 53,629,216 K499E probably damaging Het
Elfn1 A G 5: 139,972,359 T373A probably benign Het
Fam83h C T 15: 76,002,650 R946K probably benign Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 119,160,716 probably null Het
Grik4 T C 9: 42,675,218 K114E probably damaging Het
Hivep1 T C 13: 42,157,727 S1148P probably benign Het
Lrp1 C A 10: 127,595,103 R359L probably damaging Het
Lyn A G 4: 3,742,455 H28R probably benign Het
Mtmr10 T C 7: 64,337,899 L729P probably damaging Het
Myot T A 18: 44,354,095 probably null Het
Obox2 G T 7: 15,396,957 R38L probably benign Het
Olfr787 A T 10: 129,462,952 Y92F probably damaging Het
Pcdha3 A G 18: 36,947,348 Q381R probably benign Het
Pip4k2b A G 11: 97,729,548 probably benign Het
Ppig T A 2: 69,733,209 S89T probably damaging Het
Prune2 A G 19: 17,178,871 D47G probably damaging Het
Sh2b2 A G 5: 136,224,233 S362P probably damaging Het
Snap91 G A 9: 86,806,520 T322I probably damaging Het
Taf3 G A 2: 9,952,561 T112I possibly damaging Het
Tcea1 T C 1: 4,894,935 V276A probably benign Het
Tex15 T C 8: 33,574,166 V1208A probably benign Het
Tomm40 G T 7: 19,713,673 T144K possibly damaging Het
Zbed5 G A 5: 129,903,159 D650N possibly damaging Het
Zfp326 A G 5: 105,888,843 probably null Het
Zfp647 G A 15: 76,910,910 R517W probably damaging Het
Other mutations in Itgb1bp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0479:Itgb1bp2 UTSW X 101449200 missense probably damaging 1.00
R3701:Itgb1bp2 UTSW X 101451687 splice site probably benign
Predicted Primers PCR Primer
(F):5'- TCTCATGGGTAAGAGTGCTAGAG -3'
(R):5'- TATAACCCAGGCATCCCTCTG -3'

Sequencing Primer
(F):5'- TAAGAGTGCTAGAGCTGGTCACTC -3'
(R):5'- GGTTATCTCTCAGCCACATGC -3'
Posted On2015-01-23