Incidental Mutation 'R3702:Itgb1bp2'
ID 258589
Institutional Source Beutler Lab
Gene Symbol Itgb1bp2
Ensembl Gene ENSMUSG00000031312
Gene Name integrin beta 1 binding protein 2
Synonyms melusin, Chordc3
MMRRC Submission 040695-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.126) question?
Stock # R3702 (G1)
Quality Score 222
Status Validated
Chromosome X
Chromosomal Location 100492694-100497147 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 100495293 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000033674 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033673] [ENSMUST00000033674]
AlphaFold Q9R000
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
Abca5 C T 11: 110,178,884 (GRCm39) probably null Het
Aopep A T 13: 63,163,144 (GRCm39) N55I probably benign Het
Cacna1a T G 8: 85,344,475 (GRCm39) S1846A probably damaging Het
Cacna1i A T 15: 80,265,272 (GRCm39) probably benign Het
Calhm3 T A 19: 47,140,187 (GRCm39) D302V possibly damaging Het
Cluh A G 11: 74,556,182 (GRCm39) M878V probably benign Het
Col24a1 C T 3: 145,043,621 (GRCm39) H603Y probably benign Het
Commd1 T A 11: 22,924,057 (GRCm39) L277H probably damaging Het
Cpped1 G T 16: 11,646,304 (GRCm39) D135E probably damaging Het
Cul5 T C 9: 53,540,516 (GRCm39) K499E probably damaging Het
Elfn1 A G 5: 139,958,114 (GRCm39) T373A probably benign Het
Fam83h C T 15: 75,874,499 (GRCm39) R946K probably benign Het
Fcgbpl1 G A 7: 27,857,203 (GRCm39) V2184M probably damaging Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 118,989,784 (GRCm39) probably null Het
Grik4 T C 9: 42,586,514 (GRCm39) K114E probably damaging Het
Hivep1 T C 13: 42,311,203 (GRCm39) S1148P probably benign Het
Lrp1 C A 10: 127,430,972 (GRCm39) R359L probably damaging Het
Lyn A G 4: 3,742,455 (GRCm39) H28R probably benign Het
Mtmr10 T C 7: 63,987,647 (GRCm39) L729P probably damaging Het
Myot T A 18: 44,487,162 (GRCm39) probably null Het
Obox2 G T 7: 15,130,882 (GRCm39) R38L probably benign Het
Or6c5c A T 10: 129,298,821 (GRCm39) Y92F probably damaging Het
Pcdha3 A G 18: 37,080,401 (GRCm39) Q381R probably benign Het
Pip4k2b A G 11: 97,620,374 (GRCm39) probably benign Het
Ppig T A 2: 69,563,553 (GRCm39) S89T probably damaging Het
Prune2 A G 19: 17,156,235 (GRCm39) D47G probably damaging Het
Sh2b2 A G 5: 136,253,087 (GRCm39) S362P probably damaging Het
Snap91 G A 9: 86,688,573 (GRCm39) T322I probably damaging Het
Taf3 G A 2: 9,957,372 (GRCm39) T112I possibly damaging Het
Tcea1 T C 1: 4,965,158 (GRCm39) V276A probably benign Het
Tex15 T C 8: 34,064,194 (GRCm39) V1208A probably benign Het
Tomm40 G T 7: 19,447,598 (GRCm39) T144K possibly damaging Het
Zbed5 G A 5: 129,932,000 (GRCm39) D650N possibly damaging Het
Zfp326 A G 5: 106,036,709 (GRCm39) probably null Het
Zfp647 G A 15: 76,795,110 (GRCm39) R517W probably damaging Het
Other mutations in Itgb1bp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0479:Itgb1bp2 UTSW X 100,492,806 (GRCm39) missense probably damaging 1.00
R3701:Itgb1bp2 UTSW X 100,495,293 (GRCm39) 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 On 2015-01-23