Incidental Mutation 'R5212:Madcam1'
ID 403188
Institutional Source Beutler Lab
Gene Symbol Madcam1
Ensembl Gene ENSMUSG00000020310
Gene Name mucosal vascular addressin cell adhesion molecule 1
Synonyms
MMRRC Submission 042786-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5212 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 79500393-79504371 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 79504179 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 255 (T255S)
Ref Sequence ENSEMBL: ENSMUSP00000151928 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020552] [ENSMUST00000020554] [ENSMUST00000217748]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000020552
SMART Domains Protein: ENSMUSP00000020552
Gene: ENSMUSG00000020308

DomainStartEndE-ValueType
low complexity region 94 114 N/A INTRINSIC
Blast:UBCc 125 156 9e-12 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000020554
AA Change: T399S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000020554
Gene: ENSMUSG00000020310
AA Change: T399S

DomainStartEndE-ValueType
low complexity region 5 13 N/A INTRINSIC
Pfam:ICAM_N 21 114 7.3e-8 PFAM
Pfam:Adhes-Ig_like 110 220 2.4e-57 PFAM
Blast:IG_like 278 354 3e-14 BLAST
transmembrane domain 366 388 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000217748
AA Change: T255S

PolyPhen 2 Score 0.215 (Sensitivity: 0.92; Specificity: 0.88)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219585
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220175
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 97% (58/60)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit small Peyer's patches and decreased homing of IgA-secreting plasma cells in the lamina propria. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T A 3: 137,771,611 (GRCm39) S267T possibly damaging Het
Abca9 T C 11: 109,998,052 (GRCm39) D1514G probably benign Het
Adamtsl4 T A 3: 95,584,980 (GRCm39) D896V probably damaging Het
Amer2 A G 14: 60,617,269 (GRCm39) Y362C probably damaging Het
Arglu1 T A 8: 8,733,843 (GRCm39) R158W probably damaging Het
Arhgef7 A G 8: 11,778,388 (GRCm39) E46G probably benign Het
Atg2b A G 12: 105,613,055 (GRCm39) V1172A probably benign Het
Bhlhe23 T A 2: 180,417,886 (GRCm39) K217N probably damaging Het
Birc6 A C 17: 74,977,369 (GRCm39) N4388T probably damaging Het
Ccp110 C T 7: 118,328,919 (GRCm39) A845V probably damaging Het
Cd63 A G 10: 128,747,722 (GRCm39) Y105C probably damaging Het
Cdk11b T C 4: 155,723,072 (GRCm39) probably null Het
Clip1 T A 5: 123,768,744 (GRCm39) R618S probably benign Het
Crybg1 A T 10: 43,843,739 (GRCm39) F1731L possibly damaging Het
Dock1 A C 7: 134,390,923 (GRCm39) K728Q possibly damaging Het
Emc2 A G 15: 43,374,240 (GRCm39) E180G probably damaging Het
F13b A T 1: 139,440,725 (GRCm39) I394F probably benign Het
Fnta A G 8: 26,499,735 (GRCm39) I155T probably benign Het
Fshr T A 17: 89,293,685 (GRCm39) E331V probably benign Het
Fshr T A 17: 89,293,684 (GRCm39) E331D probably benign Het
Gas2l1 A T 11: 5,011,108 (GRCm39) C574S probably benign Het
Ggnbp2 T A 11: 84,744,847 (GRCm39) probably benign Het
Gm3371 A C 14: 44,641,111 (GRCm39) probably benign Het
Gm7489 T A 15: 53,749,016 (GRCm39) probably benign Het
Hand1 A C 11: 57,722,273 (GRCm39) F114V probably damaging Het
Itga4 A C 2: 79,110,939 (GRCm39) H259P probably damaging Het
Jakmip1 A T 5: 37,262,245 (GRCm39) H183L probably benign Het
Kifbp A T 10: 62,398,908 (GRCm39) probably benign Het
Krt8 G T 15: 101,906,402 (GRCm39) A369D possibly damaging Het
Krt82 T C 15: 101,453,484 (GRCm39) S301G probably damaging Het
Lig3 A G 11: 82,678,504 (GRCm39) T248A probably benign Het
Med20 T C 17: 47,929,775 (GRCm39) Y71H probably benign Het
Mtss2 A G 8: 111,455,850 (GRCm39) I107V probably damaging Het
Nans T C 4: 46,502,547 (GRCm39) F328S possibly damaging Het
Ncbp3 A G 11: 72,944,373 (GRCm39) probably benign Het
Nek8 T C 11: 78,063,342 (GRCm39) M1V probably null Het
Nufip1 A T 14: 76,370,538 (GRCm39) N413I possibly damaging Het
Pbx3 T C 2: 34,178,793 (GRCm39) probably benign Het
Plppr3 C T 10: 79,698,279 (GRCm39) G419R probably benign Het
Rfx1 G T 8: 84,793,221 (GRCm39) probably benign Het
Rnpepl1 C T 1: 92,839,045 (GRCm39) A68V probably benign Het
Rsbn1l A T 5: 21,101,212 (GRCm39) M776K probably benign Het
Setd7 A T 3: 51,450,238 (GRCm39) Y63N probably damaging Het
Slc45a2 C T 15: 11,027,871 (GRCm39) T480I probably damaging Het
Snap47 T C 11: 59,319,178 (GRCm39) E320G probably damaging Het
Spaca6 C A 17: 18,058,656 (GRCm39) P68Q probably benign Het
Tdrd3 G C 14: 87,743,651 (GRCm39) R527P probably damaging Het
Tmprss2 G T 16: 97,377,492 (GRCm39) Q202K probably benign Het
Tmprss6 A G 15: 78,330,460 (GRCm39) V69A probably damaging Het
Trav6-1 A T 14: 52,876,161 (GRCm39) Q27L probably benign Het
Ttn C T 2: 76,731,957 (GRCm39) probably benign Het
Ttn T C 2: 76,619,945 (GRCm39) I15908V probably benign Het
Ttn T A 2: 76,628,019 (GRCm39) D12931V probably damaging Het
Ush2a T A 1: 188,176,902 (GRCm39) probably null Het
Wls A G 3: 159,578,645 (GRCm39) N69S probably benign Het
Other mutations in Madcam1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1491:Madcam1 UTSW 10 79,502,358 (GRCm39) missense probably benign 0.03
R2128:Madcam1 UTSW 10 79,501,406 (GRCm39) missense possibly damaging 0.93
R2129:Madcam1 UTSW 10 79,501,406 (GRCm39) missense possibly damaging 0.93
R3713:Madcam1 UTSW 10 79,504,194 (GRCm39) missense probably benign
R4932:Madcam1 UTSW 10 79,501,447 (GRCm39) nonsense probably null
R5256:Madcam1 UTSW 10 79,500,779 (GRCm39) missense possibly damaging 0.72
R5849:Madcam1 UTSW 10 79,500,824 (GRCm39) missense probably benign 0.02
R6816:Madcam1 UTSW 10 79,501,274 (GRCm39) missense probably damaging 1.00
R7046:Madcam1 UTSW 10 79,504,139 (GRCm39) missense probably benign 0.34
R7209:Madcam1 UTSW 10 79,500,892 (GRCm39) missense possibly damaging 0.53
R7994:Madcam1 UTSW 10 79,504,069 (GRCm39) critical splice acceptor site probably null
R8214:Madcam1 UTSW 10 79,502,592 (GRCm39) missense probably benign
R8956:Madcam1 UTSW 10 79,502,466 (GRCm39) missense possibly damaging 0.53
R9314:Madcam1 UTSW 10 79,501,481 (GRCm39) missense probably damaging 0.99
X0017:Madcam1 UTSW 10 79,500,833 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- GAGGCTGGCTAGTTAAGTCC -3'
(R):5'- TTTTATTTAGCTCTGGGCCAGC -3'

Sequencing Primer
(F):5'- AACTGTAAGGGCCTATGTATGTTCCC -3'
(R):5'- AGAGGCCACACTATCATC -3'
Posted On 2016-07-22