Incidental Mutation 'R5730:Gramd2'
ID452724
Institutional Source Beutler Lab
Gene Symbol Gramd2
Ensembl Gene ENSMUSG00000074259
Gene NameGRAM domain containing 2
Synonyms
MMRRC Submission 043191-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R5730 (G1)
Quality Score183
Status Not validated
Chromosome9
Chromosomal Location59680144-59718874 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 59711206 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 9 (H9R)
Ref Sequence ENSEMBL: ENSMUSP00000118901 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098661] [ENSMUST00000123914] [ENSMUST00000128944] [ENSMUST00000129129]
Predicted Effect probably damaging
Transcript: ENSMUST00000098661
AA Change: H132R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000096258
Gene: ENSMUSG00000074259
AA Change: H132R

DomainStartEndE-ValueType
GRAM 66 133 2.93e-20 SMART
transmembrane domain 273 290 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000123914
AA Change: H139R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114530
Gene: ENSMUSG00000074259
AA Change: H139R

DomainStartEndE-ValueType
GRAM 73 140 2.93e-20 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000128944
AA Change: H140R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116879
Gene: ENSMUSG00000074259
AA Change: H140R

DomainStartEndE-ValueType
GRAM 74 141 2.93e-20 SMART
transmembrane domain 281 298 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000129129
AA Change: H9R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118901
Gene: ENSMUSG00000074259
AA Change: H9R

DomainStartEndE-ValueType
transmembrane domain 161 178 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133822
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143224
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 95.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak T C 19: 9,010,253 V2967A possibly damaging Het
Apaf1 A T 10: 91,020,771 I858K possibly damaging Het
Baiap3 T C 17: 25,247,524 T466A probably benign Het
Brca2 T A 5: 150,569,005 S3162T possibly damaging Het
Brd1 T G 15: 88,717,045 N462T probably benign Het
Carm1 G A 9: 21,580,340 R235H probably benign Het
Cd80 T C 16: 38,482,735 probably null Het
Clip4 A G 17: 71,810,959 Y333C probably damaging Het
Col7a1 T C 9: 108,972,242 probably null Het
Csmd1 G A 8: 16,185,192 Q1206* probably null Het
Cyp17a1 A G 19: 46,672,656 I63T possibly damaging Het
Diaph1 A G 18: 37,903,776 Y119H unknown Het
Dst T G 1: 34,117,526 probably null Het
Fgfr1 A G 8: 25,573,811 T785A probably damaging Het
Gm1553 A G 10: 82,488,111 F94S unknown Het
Gpbar1 A G 1: 74,279,036 N146S probably damaging Het
Gpc5 A G 14: 115,788,314 T588A possibly damaging Het
Klk11 G A 7: 43,774,775 S6N probably benign Het
Lrp1 A G 10: 127,583,834 S969P probably benign Het
Lyz2 G T 10: 117,278,682 A114E probably damaging Het
Madd T C 2: 91,158,109 D1193G probably damaging Het
Mrpl39 C T 16: 84,732,434 G107R probably damaging Het
Mthfd2 C T 6: 83,317,459 R24H probably benign Het
Olfr1240 T C 2: 89,439,436 N281S probably damaging Het
Olfr450 C T 6: 42,818,160 R230* probably null Het
Ovch2 A G 7: 107,793,399 C246R probably damaging Het
Phf14 A T 6: 11,953,320 I353F possibly damaging Het
Ppp2r5a C T 1: 191,372,535 V105I probably benign Het
Prr14l T C 5: 32,793,603 T1949A probably damaging Het
Prss48 T G 3: 85,997,256 M212L possibly damaging Het
Pstk A T 7: 131,373,774 D152V probably damaging Het
Scn2a C A 2: 65,682,538 S214* probably null Het
Scn3a T G 2: 65,495,260 N971T probably benign Het
Syne3 T C 12: 104,961,454 I250V probably benign Het
Synpo2 T C 3: 123,114,119 D516G probably benign Het
Tcea3 T C 4: 136,264,893 V209A probably benign Het
Tnr A G 1: 159,888,322 S885G probably benign Het
Trak2 T C 1: 58,921,807 D188G probably damaging Het
Tubb1 A G 2: 174,457,769 I415V probably benign Het
Virma T A 4: 11,542,154 M1580K probably benign Het
Vmn1r120 A T 7: 21,053,009 I259N possibly damaging Het
Vmn1r64 G A 7: 5,884,523 T7I probably benign Het
Other mutations in Gramd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01682:Gramd2 APN 9 59712110 missense possibly damaging 0.76
IGL03032:Gramd2 APN 9 59712127 missense probably benign 0.22
R5119:Gramd2 UTSW 9 59714320 intron probably benign
R5628:Gramd2 UTSW 9 59707723 missense probably benign 0.01
R5703:Gramd2 UTSW 9 59708016 missense probably benign 0.25
R5799:Gramd2 UTSW 9 59708016 missense probably benign 0.25
R7424:Gramd2 UTSW 9 59708071 missense possibly damaging 0.75
R7531:Gramd2 UTSW 9 59709910 missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AGTGGAAGGTCTAGATGCCC -3'
(R):5'- GCCTGAAATATCTGCTGGAAAG -3'

Sequencing Primer
(F):5'- AAGGTCTAGATGCCCCCTGC -3'
(R):5'- ATCTGCTGGAAAGCTACCTG -3'
Posted On2017-01-03