Incidental Mutation 'R7854:Gramd2b'
ID 607161
Institutional Source Beutler Lab
Gene Symbol Gramd2b
Ensembl Gene ENSMUSG00000001700
Gene Name GRAM domain containing 2B
Synonyms 9130427A09Rik, Gramd3, 9030613F08Rik
MMRRC Submission 045907-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7854 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 56533412-56636864 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 56611926 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 130 (T130A)
Ref Sequence ENSEMBL: ENSMUSP00000068453 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070166]
AlphaFold Q6PEM6
Predicted Effect probably damaging
Transcript: ENSMUST00000070166
AA Change: T130A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000068453
Gene: ENSMUSG00000001700
AA Change: T130A

DomainStartEndE-ValueType
low complexity region 69 82 N/A INTRINSIC
low complexity region 86 104 N/A INTRINSIC
GRAM 110 177 3.06e-23 SMART
transmembrane domain 342 364 N/A INTRINSIC
coiled coil region 404 430 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (51/52)
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 T A 13: 81,741,207 (GRCm39) I86F probably damaging Het
Als2cl A G 9: 110,727,564 (GRCm39) *953W probably null Het
Ap1g2 A G 14: 55,343,390 (GRCm39) F66L probably damaging Het
Aqp12 T G 1: 92,934,176 (GRCm39) C18G probably damaging Het
Atp9a T C 2: 168,490,523 (GRCm39) I826V probably benign Het
C1ra A G 6: 124,494,700 (GRCm39) Q321R probably benign Het
Calcoco1 T C 15: 102,627,991 (GRCm39) I48V possibly damaging Het
Cep63 A T 9: 102,480,197 (GRCm39) S269R probably damaging Het
Chchd7 T C 4: 3,943,422 (GRCm39) V63A possibly damaging Het
Dennd5b T C 6: 148,969,964 (GRCm39) D163G probably benign Het
Dpep2 T C 8: 106,716,160 (GRCm39) D251G Het
Ercc6 T C 14: 32,288,249 (GRCm39) L807P probably damaging Het
Fads6 A T 11: 115,188,222 (GRCm39) D27E probably benign Het
Gfer C A 17: 24,913,259 (GRCm39) D198Y probably damaging Het
Glce A T 9: 61,977,773 (GRCm39) I37N probably benign Het
Gps2 T C 11: 69,806,030 (GRCm39) L128P probably damaging Het
Hectd4 T A 5: 121,467,631 (GRCm39) Y2527N probably benign Het
Itpr1 A G 6: 108,364,330 (GRCm39) D820G probably damaging Het
Itsn2 T C 12: 4,751,276 (GRCm39) Y1289H probably damaging Het
Kcnh6 A T 11: 105,908,172 (GRCm39) I263F probably damaging Het
Kcns2 A T 15: 34,839,917 (GRCm39) M427L probably benign Het
Mptx1 A T 1: 174,159,966 (GRCm39) M91L probably benign Het
Ms4a20 T A 19: 11,089,741 (GRCm39) Y48F probably benign Het
Mtx2 A G 2: 74,699,231 (GRCm39) Y128C probably damaging Het
Myh9 A T 15: 77,675,953 (GRCm39) D244E probably benign Het
Ndufs2 T C 1: 171,066,938 (GRCm39) D140G probably damaging Het
Obscn T C 11: 58,981,538 (GRCm39) T1827A probably benign Het
Ogn A T 13: 49,774,514 (GRCm39) Y219F possibly damaging Het
Or1ak2 A G 2: 36,828,036 (GRCm39) R302G probably benign Het
Or51f2 C T 7: 102,526,992 (GRCm39) R222* probably null Het
Parp4 A G 14: 56,896,805 (GRCm39) E1943G unknown Het
Pex19 T G 1: 171,954,417 (GRCm39) probably null Het
Prss53 T C 7: 127,488,117 (GRCm39) N166S probably benign Het
Prx T A 7: 27,216,066 (GRCm39) V328E probably damaging Het
Pstpip2 C T 18: 77,962,004 (GRCm39) T258I probably benign Het
Rasgrp4 C T 7: 28,850,035 (GRCm39) P58L unknown Het
Ros1 T C 10: 52,004,563 (GRCm39) Y1019C probably damaging Het
Rptor T C 11: 119,748,779 (GRCm39) M787T probably benign Het
Rsf1 GGCGGCGGCGGC GGCGGCGGCGGCGGCGGCGGCAGCGGCAGCGGCGGCGGC 7: 97,229,131 (GRCm39) probably benign Het
Spef2 T A 15: 9,596,730 (GRCm39) R1440W possibly damaging Het
Spta1 T A 1: 174,046,396 (GRCm39) probably null Het
Sptbn4 T C 7: 27,061,835 (GRCm39) I2335V probably benign Het
Srp68 G C 11: 116,144,909 (GRCm39) probably null Het
Taar1 A G 10: 23,796,680 (GRCm39) D126G probably benign Het
Tdrd9 A G 12: 112,013,395 (GRCm39) T1210A probably benign Het
Tle5 A G 10: 81,401,481 (GRCm39) H183R probably damaging Het
Tpcn1 A G 5: 120,687,653 (GRCm39) F364L probably damaging Het
Trav2 A T 14: 52,805,238 (GRCm39) K20* probably null Het
Trpa1 T C 1: 14,951,918 (GRCm39) E927G probably benign Het
Tyk2 A T 9: 21,026,776 (GRCm39) D637E probably benign Het
Vmn1r200 T C 13: 22,580,009 (GRCm39) F271L probably benign Het
Vmn1r231 T A 17: 21,110,894 (GRCm39) D7V probably damaging Het
Wwc2 G A 8: 48,321,512 (GRCm39) T534I unknown Het
Other mutations in Gramd2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01582:Gramd2b APN 18 56,618,488 (GRCm39) missense probably damaging 0.99
IGL01903:Gramd2b APN 18 56,607,101 (GRCm39) missense probably damaging 0.99
IGL02203:Gramd2b APN 18 56,612,026 (GRCm39) critical splice donor site probably null
IGL03210:Gramd2b APN 18 56,607,170 (GRCm39) missense probably benign
PIT4283001:Gramd2b UTSW 18 56,622,735 (GRCm39) missense probably damaging 1.00
R0432:Gramd2b UTSW 18 56,607,141 (GRCm39) missense probably benign 0.00
R1623:Gramd2b UTSW 18 56,565,423 (GRCm39) missense probably benign 0.00
R4019:Gramd2b UTSW 18 56,612,026 (GRCm39) critical splice donor site probably null
R4125:Gramd2b UTSW 18 56,618,296 (GRCm39) missense probably damaging 1.00
R4750:Gramd2b UTSW 18 56,565,372 (GRCm39) missense probably benign 0.44
R4927:Gramd2b UTSW 18 56,618,523 (GRCm39) missense probably damaging 0.96
R5495:Gramd2b UTSW 18 56,615,694 (GRCm39) missense probably damaging 1.00
R5866:Gramd2b UTSW 18 56,607,108 (GRCm39) missense possibly damaging 0.93
R6443:Gramd2b UTSW 18 56,618,457 (GRCm39) missense probably benign 0.00
R6672:Gramd2b UTSW 18 56,565,408 (GRCm39) missense possibly damaging 0.49
R7030:Gramd2b UTSW 18 56,618,321 (GRCm39) missense probably damaging 1.00
R7099:Gramd2b UTSW 18 56,625,017 (GRCm39) missense probably benign 0.01
R7162:Gramd2b UTSW 18 56,618,529 (GRCm39) critical splice donor site probably null
R7975:Gramd2b UTSW 18 56,618,451 (GRCm39) missense probably benign 0.00
R9758:Gramd2b UTSW 18 56,611,972 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGACCATTTGAGGTTGCGC -3'
(R):5'- TTTGGAAGCACAACTAAGGAAACTC -3'

Sequencing Primer
(F):5'- CTGGTGCTGAAGACGCTTGC -3'
(R):5'- ATAAAGTCAGACTCATGATGGAAAC -3'
Posted On 2019-12-20