Incidental Mutation 'R4077:Adrm1b'
ID 316605
Institutional Source Beutler Lab
Gene Symbol Adrm1b
Ensembl Gene ENSMUSG00000042165
Gene Name adhesion regulating molecule 1B
Synonyms Gm9774
MMRRC Submission 041622-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.545) question?
Stock # R4077 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 92335374-92336730 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to C at 92336195 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000063287 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047300] [ENSMUST00000067102] [ENSMUST00000192538]
AlphaFold A0A0A6YVU8
Predicted Effect probably benign
Transcript: ENSMUST00000047300
SMART Domains Protein: ENSMUSP00000045065
Gene: ENSMUSG00000042165

DomainStartEndE-ValueType
Pfam:Proteasom_Rpn13 29 111 5.8e-36 PFAM
low complexity region 132 150 N/A INTRINSIC
Pfam:RPN13_C 170 283 7.5e-38 PFAM
low complexity region 292 305 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000067102
SMART Domains Protein: ENSMUSP00000063287
Gene: ENSMUSG00000054215

DomainStartEndE-ValueType
Pfam:SPRR2 2 65 1.8e-26 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000192538
AA Change: M169R
SMART Domains Protein: ENSMUSP00000141274
Gene: ENSMUSG00000042165
AA Change: M169R

DomainStartEndE-ValueType
Pfam:Proteasom_Rpn13 29 112 7.4e-35 PFAM
low complexity region 135 161 N/A INTRINSIC
low complexity region 173 254 N/A INTRINSIC
PDB:2KR0|A 255 407 4e-78 PDB
Meta Mutation Damage Score 0.9100 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 99% (81/82)
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd12 T A 2: 150,690,379 (GRCm39) probably null Het
Adam33 T C 2: 130,905,444 (GRCm39) probably benign Het
Akap8 C T 17: 32,531,272 (GRCm39) R380Q probably damaging Het
Arhgef12 T C 9: 42,886,588 (GRCm39) M1131V probably damaging Het
Atrn T C 2: 130,806,850 (GRCm39) probably null Het
Btaf1 A G 19: 36,963,879 (GRCm39) T817A probably benign Het
C3 C T 17: 57,512,303 (GRCm39) D1542N possibly damaging Het
Cadm3 A G 1: 173,169,236 (GRCm39) V293A probably benign Het
Cdk11b C T 4: 155,724,204 (GRCm39) probably benign Het
Cdnf A G 2: 3,522,060 (GRCm39) Y84C probably damaging Het
Chdh T C 14: 29,757,297 (GRCm39) S407P probably damaging Het
Cmtr1 C A 17: 29,904,949 (GRCm39) T300K probably damaging Het
Dennd2d A T 3: 106,389,939 (GRCm39) probably benign Het
Diaph1 T A 18: 37,986,636 (GRCm39) E1116D possibly damaging Het
Eif1ad3 A G 12: 87,843,401 (GRCm39) K16R unknown Het
Eif1ad3 A T 12: 87,843,710 (GRCm39) D119V possibly damaging Het
Enpp1 A G 10: 24,544,905 (GRCm39) probably null Het
Erbb4 T C 1: 68,079,496 (GRCm39) T1195A probably benign Het
Ermard T A 17: 15,273,638 (GRCm39) S408T probably benign Het
Etl4 A T 2: 20,812,772 (GRCm39) R1442S probably damaging Het
F13b T A 1: 139,429,508 (GRCm39) F9I unknown Het
Fnbp4 C T 2: 90,588,821 (GRCm39) R531* probably null Het
Gdf6 A G 4: 9,844,776 (GRCm39) Y100C probably damaging Het
Gpr3 T C 4: 132,938,226 (GRCm39) T149A probably damaging Het
Grm8 T C 6: 27,760,208 (GRCm39) H374R probably benign Het
Hbs1l T C 10: 21,228,501 (GRCm39) V493A probably damaging Het
Hgs A G 11: 120,368,202 (GRCm39) K277E probably damaging Het
Hnrnpul1 C T 7: 25,426,300 (GRCm39) R517Q probably damaging Het
Hoxa11 A T 6: 52,222,504 (GRCm39) Y66N probably damaging Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Igdcc4 T A 9: 65,039,047 (GRCm39) L944Q probably damaging Het
Ighv3-1 C A 12: 113,928,107 (GRCm39) S84I probably damaging Het
Iqgap2 T C 13: 95,794,375 (GRCm39) D1199G probably damaging Het
Kcnk10 A T 12: 98,401,205 (GRCm39) M490K probably benign Het
Kirrel1 A G 3: 86,992,387 (GRCm39) probably null Het
Lias A T 5: 65,552,768 (GRCm39) T124S probably benign Het
Lrig3 A C 10: 125,845,656 (GRCm39) E695A probably damaging Het
Lrpap1 A G 5: 35,253,381 (GRCm39) I261T possibly damaging Het
Lrrc37a T A 11: 103,388,808 (GRCm39) T2206S unknown Het
Macf1 T A 4: 123,365,884 (GRCm39) Q2959L probably benign Het
Mis12 A G 11: 70,916,134 (GRCm39) T56A probably benign Het
Or10ag56 T A 2: 87,139,208 (GRCm39) M25K probably null Het
Or1l4 T A 2: 37,092,024 (GRCm39) I257N possibly damaging Het
Or4k41 A G 2: 111,279,848 (GRCm39) D121G probably damaging Het
Or5b99 T C 19: 12,977,235 (GRCm39) V295A probably damaging Het
Otof A T 5: 30,576,850 (GRCm39) L134Q possibly damaging Het
Pds5b T A 5: 150,717,824 (GRCm39) V1155E possibly damaging Het
Pdss2 A T 10: 43,278,518 (GRCm39) M342L probably benign Het
Phyhipl C T 10: 70,404,903 (GRCm39) V57I probably damaging Het
Plekha5 T A 6: 140,501,647 (GRCm39) probably null Het
Pnck A T X: 72,701,761 (GRCm39) V93E probably damaging Het
Proser1 A G 3: 53,385,962 (GRCm39) T615A probably damaging Het
Ptprk G A 10: 28,139,508 (GRCm39) V78I probably benign Het
Ptprv A G 1: 135,038,168 (GRCm39) noncoding transcript Het
Ranbp3l A G 15: 9,060,838 (GRCm39) N233S probably damaging Het
Rassf2 G A 2: 131,854,522 (GRCm39) P7S probably benign Het
Sart1 A T 19: 5,432,771 (GRCm39) L521Q possibly damaging Het
Scgb1b21 T A 7: 33,227,118 (GRCm39) noncoding transcript Het
Scyl2 A T 10: 89,476,458 (GRCm39) M889K probably benign Het
Secisbp2l A G 2: 125,593,785 (GRCm39) probably benign Het
Svil A G 18: 5,063,522 (GRCm39) E931G probably benign Het
Syce1 C A 7: 140,359,809 (GRCm39) L83F probably damaging Het
Tdrd1 A G 19: 56,819,505 (GRCm39) M2V probably benign Het
Tjp2 A T 19: 24,086,182 (GRCm39) V780E possibly damaging Het
Tram1 A G 1: 13,636,599 (GRCm39) V358A probably benign Het
Unc13c C T 9: 73,643,821 (GRCm39) W1214* probably null Het
Vps13b T C 15: 35,455,274 (GRCm39) C728R probably damaging Het
Wwox A G 8: 115,166,481 (GRCm39) probably benign Het
Zbtb41 G A 1: 139,357,064 (GRCm39) V440I probably benign Het
Zfp777 T C 6: 48,002,456 (GRCm39) S589G probably benign Het
Zfp955a A G 17: 33,460,675 (GRCm39) Y486H probably benign Het
Other mutations in Adrm1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00569:Adrm1b APN 3 92,335,707 (GRCm39) missense probably benign 0.06
IGL01474:Adrm1b APN 3 92,335,650 (GRCm39) missense probably damaging 0.99
R0634:Adrm1b UTSW 3 92,336,116 (GRCm39) nonsense probably null
R1791:Adrm1b UTSW 3 92,335,538 (GRCm39) missense probably damaging 0.99
R2215:Adrm1b UTSW 3 92,335,730 (GRCm39) missense probably damaging 0.97
R5221:Adrm1b UTSW 3 92,335,815 (GRCm39) missense probably benign 0.00
R5481:Adrm1b UTSW 3 92,336,658 (GRCm39) missense possibly damaging 0.94
R5589:Adrm1b UTSW 3 92,336,112 (GRCm39) unclassified probably benign
R5611:Adrm1b UTSW 3 92,335,758 (GRCm39) missense probably damaging 1.00
R5621:Adrm1b UTSW 3 92,335,664 (GRCm39) missense probably damaging 1.00
R6012:Adrm1b UTSW 3 92,336,791 (GRCm39) splice site probably null
R6538:Adrm1b UTSW 3 92,336,562 (GRCm39) missense possibly damaging 0.76
R6773:Adrm1b UTSW 3 92,336,556 (GRCm39) missense probably damaging 0.99
R6995:Adrm1b UTSW 3 92,336,315 (GRCm39) unclassified probably benign
R7953:Adrm1b UTSW 3 92,336,637 (GRCm39) missense probably benign 0.03
R7980:Adrm1b UTSW 3 92,336,406 (GRCm39) nonsense probably null
R8055:Adrm1b UTSW 3 92,336,139 (GRCm39) missense unknown
R9058:Adrm1b UTSW 3 92,335,559 (GRCm39) missense probably benign 0.02
Z1088:Adrm1b UTSW 3 92,336,397 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TCCATTACCTGAGCTGGGTG -3'
(R):5'- TCTTCTTCTGGATGCAGGAGC -3'

Sequencing Primer
(F):5'- CTGGGGCAGAAGGGGCTG -3'
(R):5'- TTCTGGATGCAGGAGCCCAAG -3'
Posted On 2015-05-15