Incidental Mutation 'R7953:Adrm1b'
ID 649652
Institutional Source Beutler Lab
Gene Symbol Adrm1b
Ensembl Gene ENSMUSG00000042165
Gene Name adhesion regulating molecule 1B
Synonyms Gm9774
MMRRC Submission 045997-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.545) question?
Stock # R7953 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 92335374-92336730 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 92336637 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 22 (Y22N)
Ref Sequence ENSEMBL: ENSMUSP00000045065 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047300] [ENSMUST00000067102] [ENSMUST00000192538]
AlphaFold A0A0A6YVU8
Predicted Effect probably benign
Transcript: ENSMUST00000047300
AA Change: Y22N

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000045065
Gene: ENSMUSG00000042165
AA Change: Y22N

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: Y22N
SMART Domains Protein: ENSMUSP00000141274
Gene: ENSMUSG00000042165
AA Change: Y22N

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (46/46)
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933430I17Rik A G 4: 62,450,896 (GRCm39) R120G probably null Het
Abcb9 T C 5: 124,211,665 (GRCm39) Y628C probably damaging Het
Alpk2 C T 18: 65,482,901 (GRCm39) C369Y probably damaging Het
Caskin1 T G 17: 24,723,195 (GRCm39) L661R probably damaging Het
Cep83 A C 10: 94,573,804 (GRCm39) N231T probably damaging Het
Cfap44 G A 16: 44,234,054 (GRCm39) G338D probably benign Het
Chrna7 T G 7: 62,753,541 (GRCm39) K326T possibly damaging Het
Col4a4 A G 1: 82,431,689 (GRCm39) S1532P unknown Het
Cplx4 A T 18: 66,090,190 (GRCm39) probably null Het
Csf1r G C 18: 61,257,947 (GRCm39) G639R probably damaging Het
Dnajc27 T C 12: 4,147,270 (GRCm39) L151P possibly damaging Het
Epha5 A G 5: 84,381,513 (GRCm39) V446A probably benign Het
Esam T C 9: 37,448,317 (GRCm39) V252A probably damaging Het
Flnc C A 6: 29,447,828 (GRCm39) D1210E probably damaging Het
Fmn1 G A 2: 113,426,689 (GRCm39) M1233I probably benign Het
Fstl4 T C 11: 52,891,050 (GRCm39) S63P probably benign Het
Gas2l2 A G 11: 83,314,070 (GRCm39) V414A possibly damaging Het
Glra1 G A 11: 55,424,688 (GRCm39) P174L probably damaging Het
Gm16485 A T 9: 8,972,196 (GRCm39) N21Y unknown Het
Golga7 A T 8: 23,746,731 (GRCm39) C24S possibly damaging Het
Ints8 T C 4: 11,227,128 (GRCm39) T582A probably benign Het
Irx2 A T 13: 72,777,343 (GRCm39) T55S probably benign Het
Lce1j A T 3: 92,696,390 (GRCm39) C129* probably null Het
Mettl25b T C 3: 87,834,955 (GRCm39) N115S possibly damaging Het
Mocs1 G A 17: 49,761,799 (GRCm39) G631E possibly damaging Het
Mpi A T 9: 57,457,881 (GRCm39) L107Q probably damaging Het
Msrb2 A G 2: 19,399,166 (GRCm39) *176W probably null Het
Myh13 T A 11: 67,231,206 (GRCm39) L401Q probably damaging Het
Npffr2 G A 5: 89,730,513 (GRCm39) V148I probably benign Het
Oas1a T C 5: 121,035,080 (GRCm39) E360G probably benign Het
Or4k15c A T 14: 50,321,367 (GRCm39) I257N possibly damaging Het
Or5b96 A C 19: 12,867,095 (GRCm39) V282G probably damaging Het
Or9g20 A T 2: 85,630,239 (GRCm39) I125N probably damaging Het
Pcdha2 A G 18: 37,072,579 (GRCm39) D70G probably benign Het
Phf11b T C 14: 59,568,722 (GRCm39) S64G probably benign Het
Pira1 C G 7: 3,740,319 (GRCm39) A301P probably damaging Het
Plpp2 A C 10: 79,366,374 (GRCm39) L146R possibly damaging Het
Poc5 T A 13: 96,539,408 (GRCm39) N316K probably benign Het
Rad51ap2 A T 12: 11,512,593 (GRCm39) R947* probably null Het
Ralgapb A G 2: 158,307,803 (GRCm39) H1037R probably benign Het
Rpl21 T C 5: 146,772,702 (GRCm39) V141A probably benign Het
Rufy3 C A 5: 88,790,851 (GRCm39) D517E probably benign Het
Scn7a A G 2: 66,587,670 (GRCm39) V11A possibly damaging Het
Sipa1l1 A C 12: 82,496,700 (GRCm39) Q1744P probably damaging Het
Smc2 T C 4: 52,470,911 (GRCm39) probably null Het
Sorcs3 T A 19: 48,752,734 (GRCm39) L843Q possibly damaging Het
Strc A T 2: 121,207,844 (GRCm39) F509Y probably damaging Het
Tas2r117 A C 6: 132,780,281 (GRCm39) T140P probably damaging Het
Tnxb T A 17: 34,928,509 (GRCm39) I2641N possibly damaging Het
Tnxb C A 17: 34,929,077 (GRCm39) P2707T probably benign Het
Vmn1r4 T A 6: 56,933,515 (GRCm39) N6K probably benign Het
Vmn1r91 T A 7: 19,835,218 (GRCm39) S46T possibly damaging Het
Zfp750 T C 11: 121,402,706 (GRCm39) T681A 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
R4077:Adrm1b UTSW 3 92,336,195 (GRCm39) unclassified probably benign
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
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'- TTGAACTCACAGTCATCAGGAAAG -3'
(R):5'- ATTTCACCTTAGCCTGGTCAGC -3'

Sequencing Primer
(F):5'- GATAATCAAGTCATCCTCCACGGTC -3'
(R):5'- TTAGCCTGGTCAGCATGAC -3'
Posted On 2020-09-15