Incidental Mutation 'R5805:Garem1'
ID 448473
Institutional Source Beutler Lab
Gene Symbol Garem1
Ensembl Gene ENSMUSG00000042680
Gene Name GRB2 associated regulator of MAPK1 subtype 1
Synonyms LOC381126, Garem, Fam59a
MMRRC Submission 043212-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.154) question?
Stock # R5805 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 21260399-21433196 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 21281492 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 288 (R288H)
Ref Sequence ENSEMBL: ENSMUSP00000048914 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049260]
AlphaFold Q3UFT3
Predicted Effect probably benign
Transcript: ENSMUST00000049260
AA Change: R288H

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000048914
Gene: ENSMUSG00000042680
AA Change: R288H

DomainStartEndE-ValueType
Pfam:CABIT 32 318 3.4e-79 PFAM
low complexity region 484 499 N/A INTRINSIC
low complexity region 512 518 N/A INTRINSIC
PDB:2DKZ|A 795 874 2e-40 PDB
Blast:SAM 808 875 2e-36 BLAST
SCOP:d1kw4a_ 812 873 4e-4 SMART
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an adaptor protein which functions in the epidermal growth factor (EGF) receptor-mediated signaling pathway. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 C T 11: 110,170,216 (GRCm39) C1293Y probably benign Het
Adam8 T A 7: 139,565,794 (GRCm39) D611V probably damaging Het
Arhgap33 T C 7: 30,225,839 (GRCm39) T576A probably benign Het
Atf7 A T 15: 102,466,022 (GRCm39) probably null Het
Baiap3 T A 17: 25,466,489 (GRCm39) T464S probably benign Het
Ccdc40 T C 11: 119,136,906 (GRCm39) probably null Het
Celf2 T C 2: 6,558,598 (GRCm39) E430G probably damaging Het
Chia1 A G 3: 106,035,792 (GRCm39) T211A probably damaging Het
Ciz1 T C 2: 32,257,408 (GRCm39) F151S probably damaging Het
Dnm2 A G 9: 21,378,965 (GRCm39) T175A probably damaging Het
Doc2b A G 11: 75,663,364 (GRCm39) S363P probably damaging Het
Gpr132 G A 12: 112,816,416 (GRCm39) R137C probably damaging Het
Helz2 C A 2: 180,882,301 (GRCm39) C164F probably damaging Het
Itfg1 A T 8: 86,493,601 (GRCm39) S293T probably benign Het
Kcnn2 T A 18: 45,816,198 (GRCm39) D336E probably damaging Het
Kifc2 C T 15: 76,546,353 (GRCm39) A245V probably benign Het
Krt18 T A 15: 101,939,735 (GRCm39) I311N probably benign Het
Lypla1 T C 1: 4,900,517 (GRCm39) M7T possibly damaging Het
Mef2a T C 7: 66,901,416 (GRCm39) M285V possibly damaging Het
Micu1 A C 10: 59,663,128 (GRCm39) K353Q possibly damaging Het
Mpv17l A G 16: 13,760,013 (GRCm39) probably benign Het
Ntrk1 G A 3: 87,687,479 (GRCm39) R652W probably damaging Het
Or13a28 T A 7: 140,218,384 (GRCm39) F257I probably benign Het
Or13c7 T C 4: 43,855,152 (GRCm39) I281T probably benign Het
Or4c107 G A 2: 88,788,985 (GRCm39) M58I possibly damaging Het
Pcdh15 C A 10: 74,066,091 (GRCm39) T252K probably damaging Het
Pcsk5 T C 19: 17,434,193 (GRCm39) M1392V probably benign Het
Phf20 T A 2: 156,149,214 (GRCm39) V964E probably damaging Het
Pira13 G A 7: 3,825,622 (GRCm39) L416F probably benign Het
Plcg2 T C 8: 118,325,234 (GRCm39) probably null Het
Rnf10 A T 5: 115,382,127 (GRCm39) C693S probably benign Het
Rnf19b A G 4: 128,952,617 (GRCm39) Y185C probably damaging Het
Ros1 G T 10: 51,999,385 (GRCm39) D1167E probably damaging Het
Sidt2 G A 9: 45,853,497 (GRCm39) S701L probably damaging Het
Slc66a2 C T 18: 80,306,658 (GRCm39) P76L probably damaging Het
Spag1 T C 15: 36,200,430 (GRCm39) I345T probably damaging Het
Srcap T A 7: 127,141,211 (GRCm39) S1603T possibly damaging Het
Stag1 T A 9: 100,678,831 (GRCm39) Y251N probably damaging Het
Stxbp5 T C 10: 9,776,330 (GRCm39) N33S probably benign Het
Tnrc6a T C 7: 122,769,299 (GRCm39) L363P probably damaging Het
U2surp C T 9: 95,361,357 (GRCm39) R591H possibly damaging Het
Usf3 A G 16: 44,041,109 (GRCm39) N1863S possibly damaging Het
Vmn2r15 T C 5: 109,434,806 (GRCm39) I633V possibly damaging Het
Zfp979 T C 4: 147,698,067 (GRCm39) D214G probably damaging Het
Other mutations in Garem1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00504:Garem1 APN 18 21,281,714 (GRCm39) missense probably damaging 1.00
IGL01588:Garem1 APN 18 21,262,854 (GRCm39) missense probably damaging 0.99
IGL02171:Garem1 APN 18 21,262,298 (GRCm39) missense probably damaging 0.98
IGL02270:Garem1 APN 18 21,281,507 (GRCm39) missense probably damaging 1.00
IGL03149:Garem1 APN 18 21,264,523 (GRCm39) missense probably damaging 1.00
R0136:Garem1 UTSW 18 21,263,048 (GRCm39) missense probably damaging 0.96
R0285:Garem1 UTSW 18 21,262,669 (GRCm39) missense probably benign
R0361:Garem1 UTSW 18 21,432,801 (GRCm39) nonsense probably null
R1068:Garem1 UTSW 18 21,301,812 (GRCm39) missense probably benign 0.00
R1537:Garem1 UTSW 18 21,301,931 (GRCm39) splice site probably null
R1726:Garem1 UTSW 18 21,281,319 (GRCm39) missense probably damaging 0.99
R1826:Garem1 UTSW 18 21,262,509 (GRCm39) missense probably benign 0.00
R2140:Garem1 UTSW 18 21,262,431 (GRCm39) missense probably damaging 1.00
R3714:Garem1 UTSW 18 21,281,947 (GRCm39) missense probably damaging 1.00
R3937:Garem1 UTSW 18 21,281,863 (GRCm39) nonsense probably null
R4362:Garem1 UTSW 18 21,369,172 (GRCm39) missense possibly damaging 0.62
R4441:Garem1 UTSW 18 21,301,807 (GRCm39) missense possibly damaging 0.92
R4747:Garem1 UTSW 18 21,263,000 (GRCm39) missense probably benign
R4814:Garem1 UTSW 18 21,281,173 (GRCm39) missense probably damaging 1.00
R4831:Garem1 UTSW 18 21,262,825 (GRCm39) missense probably benign 0.01
R4838:Garem1 UTSW 18 21,280,950 (GRCm39) missense probably benign 0.00
R5963:Garem1 UTSW 18 21,262,487 (GRCm39) missense probably benign 0.45
R5982:Garem1 UTSW 18 21,281,408 (GRCm39) missense possibly damaging 0.64
R6134:Garem1 UTSW 18 21,262,881 (GRCm39) missense probably benign 0.00
R6242:Garem1 UTSW 18 21,262,229 (GRCm39) missense possibly damaging 0.72
R6453:Garem1 UTSW 18 21,281,796 (GRCm39) missense probably damaging 0.99
R6485:Garem1 UTSW 18 21,262,894 (GRCm39) missense probably benign 0.00
R6596:Garem1 UTSW 18 21,281,796 (GRCm39) missense probably damaging 0.99
R6662:Garem1 UTSW 18 21,281,304 (GRCm39) missense probably benign 0.45
R6883:Garem1 UTSW 18 21,262,769 (GRCm39) missense probably benign
R6937:Garem1 UTSW 18 21,280,827 (GRCm39) missense probably benign 0.00
R7027:Garem1 UTSW 18 21,263,051 (GRCm39) missense probably benign
R7256:Garem1 UTSW 18 21,281,811 (GRCm39) missense probably damaging 1.00
R7534:Garem1 UTSW 18 21,432,973 (GRCm39) start gained probably benign
R7620:Garem1 UTSW 18 21,262,898 (GRCm39) missense probably benign
R7869:Garem1 UTSW 18 21,432,757 (GRCm39) missense probably damaging 1.00
R7963:Garem1 UTSW 18 21,281,844 (GRCm39) missense probably damaging 0.98
R8058:Garem1 UTSW 18 21,281,621 (GRCm39) missense probably damaging 1.00
R8953:Garem1 UTSW 18 21,264,388 (GRCm39) critical splice donor site probably null
R9273:Garem1 UTSW 18 21,281,274 (GRCm39) missense probably damaging 0.99
R9411:Garem1 UTSW 18 21,369,057 (GRCm39) critical splice donor site probably null
R9475:Garem1 UTSW 18 21,281,370 (GRCm39) missense probably benign 0.00
R9789:Garem1 UTSW 18 21,262,985 (GRCm39) missense possibly damaging 0.81
Z1176:Garem1 UTSW 18 21,281,382 (GRCm39) missense probably damaging 1.00
Z1176:Garem1 UTSW 18 21,262,849 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTTTTCACATCACGCACAGC -3'
(R):5'- GCAAGGGCAGATTTAGCACC -3'

Sequencing Primer
(F):5'- GCCCGTGAATACTCATCGATG -3'
(R):5'- GAAGTCCCCTGGAACTTCAGATG -3'
Posted On 2016-12-15