Incidental Mutation 'R3701:Itgb1bp2'
ID 258549
Institutional Source Beutler Lab
Gene Symbol Itgb1bp2
Ensembl Gene ENSMUSG00000031312
Gene Name integrin beta 1 binding protein 2
Synonyms melusin, Chordc3
MMRRC Submission 040694-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.126) question?
Stock # R3701 (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: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.4%
Validation Efficiency 97% (37/38)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb1 A C 15: 74,416,864 (GRCm39) K757T probably damaging Het
Akr1c19 C T 13: 4,293,032 (GRCm39) R263C probably damaging Het
Asxl1 A G 2: 153,241,264 (GRCm39) T605A probably benign Het
Cacna1i A T 15: 80,265,272 (GRCm39) probably benign Het
Clip4 A G 17: 72,106,003 (GRCm39) D62G probably damaging Het
Cstf1 A G 2: 172,222,312 (GRCm39) T357A probably benign Het
Cul5 T C 9: 53,540,516 (GRCm39) K499E probably damaging Het
Cyld T A 8: 89,456,179 (GRCm39) S407T probably benign Het
Dnph1 G A 17: 46,809,637 (GRCm39) G101S possibly damaging Het
Entrep1 T C 19: 23,956,831 (GRCm39) E354G probably benign Het
Esp38 A T 17: 40,266,112 (GRCm39) R74* probably null Het
Fdxr A T 11: 115,160,527 (GRCm39) L336Q probably damaging Het
Hivep1 T C 13: 42,311,203 (GRCm39) S1148P probably benign Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Kcnj5 T C 9: 32,229,124 (GRCm39) T25A possibly damaging Het
Lyn A G 4: 3,742,455 (GRCm39) H28R probably benign Het
Nbeal1 C T 1: 60,290,572 (GRCm39) probably benign Het
Nmur2 A G 11: 55,931,603 (GRCm39) L36P probably damaging Het
Or14j3 G A 17: 37,900,717 (GRCm39) Q176* probably null Het
Or6c5c A T 10: 129,298,821 (GRCm39) Y92F probably damaging Het
Or9i14 T G 19: 13,792,712 (GRCm39) I81L probably benign Het
Pdgfra T A 5: 75,340,881 (GRCm39) Y613* probably null Het
Phka2 T C X: 159,316,045 (GRCm39) V230A possibly damaging Het
Pkd2l1 A G 19: 44,145,666 (GRCm39) S186P probably damaging Het
Skic3 T C 13: 76,261,798 (GRCm39) I171T probably benign Het
Snx14 T C 9: 88,302,296 (GRCm39) probably benign Het
Tex15 T C 8: 34,064,194 (GRCm39) V1208A probably benign Het
Tmf1 A G 6: 97,149,292 (GRCm39) F485S possibly damaging Het
Tnfsf4 G A 1: 161,244,778 (GRCm39) V156I possibly damaging Het
Trdn C A 10: 33,210,980 (GRCm39) Q391K probably damaging Het
Ttc34 T C 4: 154,949,939 (GRCm39) F964S probably damaging Het
Vmn2r104 A G 17: 20,249,818 (GRCm39) S818P probably damaging Het
Zbed5 G A 5: 129,932,000 (GRCm39) D650N possibly damaging Het
Zfp446 G A 7: 12,712,079 (GRCm39) probably benign Het
Zfp592 C T 7: 80,687,159 (GRCm39) R821* probably null Het
Zfp647 G A 15: 76,795,110 (GRCm39) R517W probably damaging Het
Zfp983 G C 17: 21,880,455 (GRCm39) E128Q probably damaging Het
Other mutations in Itgb1bp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0479:Itgb1bp2 UTSW X 100,492,806 (GRCm39) missense probably damaging 1.00
R3702:Itgb1bp2 UTSW X 100,495,293 (GRCm39) splice site probably benign
Predicted Primers PCR Primer
(F):5'- TTCTCATGGGTAAGAGTGCTAGAG -3'
(R):5'- ATAACCCAGGCATCCCTCTG -3'

Sequencing Primer
(F):5'- TAAGAGTGCTAGAGCTGGTCACTC -3'
(R):5'- GGTTATCTCTCAGCCACATGC -3'
Posted On 2015-01-23