Incidental Mutation 'IGL02903:Smr2'
ID363682
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Smr2
Ensembl Gene ENSMUSG00000029281
Gene Namesubmaxillary gland androgen regulated protein 2
SynonymsMSG2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.064) question?
Stock #IGL02903
Quality Score
Status
Chromosome5
Chromosomal Location88086556-88109053 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 88108630 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 56 (I56F)
Ref Sequence ENSEMBL: ENSMUSP00000142688 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087043] [ENSMUST00000113257] [ENSMUST00000196070] [ENSMUST00000196477]
Predicted Effect probably benign
Transcript: ENSMUST00000087043
AA Change: I56F

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000084271
Gene: ENSMUSG00000029281
AA Change: I56F

DomainStartEndE-ValueType
Pfam:PROL5-SMR 1 120 8.3e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113257
Predicted Effect probably benign
Transcript: ENSMUST00000196070
AA Change: I56F

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000143443
Gene: ENSMUSG00000029281
AA Change: I56F

DomainStartEndE-ValueType
Pfam:PROL5-SMR 1 115 9.4e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000196477
AA Change: I56F

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000142688
Gene: ENSMUSG00000029281
AA Change: I56F

DomainStartEndE-ValueType
Pfam:PROL5-SMR 1 115 9.4e-41 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik G T 15: 8,269,778 R3150M unknown Het
2410089E03Rik G T 15: 8,269,779 R3150S unknown Het
4931417E11Rik A G 6: 73,469,120 Y149H probably damaging Het
Alox5 T G 6: 116,420,335 N296T probably damaging Het
Anks6 C T 4: 47,045,004 E301K probably damaging Het
Astn1 A G 1: 158,688,550 S1237G probably damaging Het
Atf6 G A 1: 170,799,714 P394S probably benign Het
Atp4a G A 7: 30,715,919 M321I probably benign Het
C4bp G A 1: 130,655,985 T82I probably damaging Het
Cask A T X: 13,552,447 probably benign Het
Cenpf A T 1: 189,646,876 S2906T probably damaging Het
Cfl1 T C 19: 5,492,800 F103L probably benign Het
Chrnb3 A T 8: 27,386,806 T83S probably damaging Het
Cmtr2 A G 8: 110,222,878 T607A probably benign Het
Cts7 A T 13: 61,356,626 probably benign Het
Dgkz A T 2: 91,939,962 Y514N possibly damaging Het
Dmrtc1b T A X: 102,713,567 L206Q probably benign Het
Dus3l C T 17: 56,768,363 L397F probably damaging Het
Fam159b T A 13: 104,863,610 Y35F probably benign Het
Gm13089 A T 4: 143,699,166 M69K probably benign Het
Gm6356 C T 14: 6,973,735 G27E probably damaging Het
Hkdc1 C T 10: 62,400,191 probably null Het
Kcmf1 A T 6: 72,858,883 V21E possibly damaging Het
Kcnh4 T A 11: 100,757,654 T75S possibly damaging Het
Lemd2 A G 17: 27,193,210 probably benign Het
Magee1 G T X: 105,123,339 R910L probably damaging Het
Mcm3ap T C 10: 76,471,258 probably benign Het
Mfsd4b3 T A 10: 39,947,643 E207V possibly damaging Het
Olfr1354 A G 10: 78,917,416 D192G probably damaging Het
Olfr697 A G 7: 106,741,710 S75P probably damaging Het
Pappa T C 4: 65,261,980 V1026A probably damaging Het
Paxip1 A G 5: 27,748,872 L942P probably damaging Het
Ppp1r12b A T 1: 134,955,649 L45Q probably benign Het
Ptprq T C 10: 107,666,586 T824A possibly damaging Het
Rfwd3 T C 8: 111,278,229 T574A probably benign Het
Rsbn1 T C 3: 103,928,569 S308P probably damaging Het
Wdfy4 C T 14: 33,109,650 R873H probably damaging Het
Other mutations in Smr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01134:Smr2 APN 5 88108519 missense probably damaging 0.97
IGL02952:Smr2 APN 5 88088236 missense possibly damaging 0.71
IGL03245:Smr2 APN 5 88108850 missense probably benign 0.01
R0832:Smr2 UTSW 5 88108824 frame shift probably null
R1328:Smr2 UTSW 5 88108824 frame shift probably null
R1575:Smr2 UTSW 5 88108824 frame shift probably null
R1950:Smr2 UTSW 5 88108824 frame shift probably null
R1950:Smr2 UTSW 5 88108826 frame shift probably null
R2102:Smr2 UTSW 5 88108736 missense probably damaging 0.96
R3616:Smr2 UTSW 5 88108824 frame shift probably null
R4587:Smr2 UTSW 5 88108772 missense probably benign 0.36
R4806:Smr2 UTSW 5 88098430 nonsense probably null
R5809:Smr2 UTSW 5 88108840 missense probably benign 0.04
Posted On2015-12-18