Incidental Mutation 'R1736:Gosr2'
ID 199732
Institutional Source Beutler Lab
Gene Symbol Gosr2
Ensembl Gene ENSMUSG00000020946
Gene Name golgi SNAP receptor complex member 2
Synonyms SNARE, GS27, membrin, 2310032N09Rik
MMRRC Submission 039768-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1736 (G1)
Quality Score 156
Status Validated
Chromosome 11
Chromosomal Location 103567675-103588724 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 103570076 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 162 (Q162*)
Ref Sequence ENSEMBL: ENSMUSP00000102627 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021329] [ENSMUST00000107013]
AlphaFold O35166
Predicted Effect probably null
Transcript: ENSMUST00000021329
AA Change: Q209*
SMART Domains Protein: ENSMUSP00000021329
Gene: ENSMUSG00000020946
AA Change: Q209*

DomainStartEndE-ValueType
coiled coil region 60 90 N/A INTRINSIC
Pfam:V-SNARE_C 121 186 6.7e-18 PFAM
transmembrane domain 192 211 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000107013
AA Change: Q162*
SMART Domains Protein: ENSMUSP00000102627
Gene: ENSMUSG00000020946
AA Change: Q162*

DomainStartEndE-ValueType
coiled coil region 60 90 N/A INTRINSIC
transmembrane domain 145 164 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145265
Meta Mutation Damage Score 0.9753 question?
Coding Region Coverage
  • 1x: 97.6%
  • 3x: 96.9%
  • 10x: 95.2%
  • 20x: 92.0%
Validation Efficiency 97% (57/59)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a trafficking membrane protein which transports proteins among the medial- and trans-Golgi compartments. Due to its chromosomal location and trafficking function, this gene may be involved in familial essential hypertension. [provided by RefSeq, Mar 2016]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts16 G A 13: 70,927,637 (GRCm39) probably benign Het
Adcy3 A G 12: 4,250,998 (GRCm39) N586D possibly damaging Het
Ak6 T A 13: 100,791,689 (GRCm39) probably null Het
Ankrd66 T C 17: 43,854,409 (GRCm39) D41G probably benign Het
Atp8b2 G A 3: 89,860,001 (GRCm39) P339S probably damaging Het
Cacna1d C T 14: 29,811,820 (GRCm39) V1297I probably damaging Het
Cbl A T 9: 44,064,192 (GRCm39) D781E possibly damaging Het
Cep295 C T 9: 15,252,179 (GRCm39) E397K probably damaging Het
Ces4a G A 8: 105,864,729 (GRCm39) G69S probably damaging Het
Clint1 A G 11: 45,797,004 (GRCm39) probably null Het
Col6a3 A G 1: 90,706,781 (GRCm39) Y2111H unknown Het
Csnk1g1 A G 9: 65,927,197 (GRCm39) probably null Het
Dse A T 10: 34,029,145 (GRCm39) N648K probably damaging Het
Dsp A G 13: 38,376,966 (GRCm39) K1584E probably benign Het
Ezh2 A T 6: 47,553,594 (GRCm39) M41K probably damaging Het
Fscn2 G A 11: 120,258,852 (GRCm39) G466S probably damaging Het
Garin5b A G 7: 4,761,153 (GRCm39) S520P probably damaging Het
Gm15217 A G 14: 46,620,663 (GRCm39) probably benign Het
Gm9696 T C 3: 59,879,696 (GRCm39) noncoding transcript Het
Hectd4 T A 5: 121,487,593 (GRCm39) H3529Q possibly damaging Het
Klf7 C A 1: 64,118,372 (GRCm39) R75L possibly damaging Het
Kmt2c A T 5: 25,495,525 (GRCm39) I4074K probably damaging Het
Ly6g2 G A 15: 75,089,569 (GRCm39) G26R probably damaging Het
Map3k11 A G 19: 5,747,429 (GRCm39) D555G probably benign Het
Mindy2 A G 9: 70,538,312 (GRCm39) I341T probably damaging Het
Mrnip G A 11: 50,067,718 (GRCm39) probably null Het
Muc5b G A 7: 141,412,844 (GRCm39) C1930Y unknown Het
Nfatc3 T G 8: 106,805,482 (GRCm39) I109S probably damaging Het
Npas1 G T 7: 16,208,541 (GRCm39) A112D probably benign Het
Npffr2 T A 5: 89,715,925 (GRCm39) I84N probably damaging Het
Nxph4 T A 10: 127,362,465 (GRCm39) H142L probably damaging Het
Otud4 T A 8: 80,378,294 (GRCm39) probably benign Het
Per3 A G 4: 151,093,705 (GRCm39) probably null Het
Pigr G A 1: 130,769,540 (GRCm39) R117Q possibly damaging Het
Plec C T 15: 76,070,418 (GRCm39) V931M probably damaging Het
Prex2 T A 1: 11,160,108 (GRCm39) probably benign Het
Sall4 G A 2: 168,594,555 (GRCm39) P420L probably benign Het
Sap30bp A G 11: 115,855,046 (GRCm39) K252R probably damaging Het
Sec63 T A 10: 42,703,914 (GRCm39) Y692* probably null Het
Sema3e C T 5: 14,260,390 (GRCm39) T181M probably damaging Het
Sf3b3 T C 8: 111,540,464 (GRCm39) I986V probably benign Het
Shisa4 A T 1: 135,299,700 (GRCm39) Y194* probably null Het
Slc17a6 G A 7: 51,311,333 (GRCm39) probably benign Het
Smg1 T G 7: 117,765,190 (GRCm39) probably null Het
Smim7 C T 8: 73,324,849 (GRCm39) G9R probably damaging Het
Spata31d1d C T 13: 59,874,311 (GRCm39) G1075R probably benign Het
Sphkap G A 1: 83,255,236 (GRCm39) R838* probably null Het
Stag3 T C 5: 138,302,771 (GRCm39) probably benign Het
Tbce A G 13: 14,184,227 (GRCm39) I217T possibly damaging Het
Tpk1 G A 6: 43,588,284 (GRCm39) P27S probably benign Het
Tsc22d1 A G 14: 76,655,797 (GRCm39) I2V probably benign Het
Tulp4 T G 17: 6,283,490 (GRCm39) V1173G possibly damaging Het
Uchl1 T C 5: 66,834,417 (GRCm39) probably null Het
Ugt2b38 T A 5: 87,571,492 (GRCm39) Q180L probably benign Het
Other mutations in Gosr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3897:Gosr2 UTSW 11 103,588,472 (GRCm39) missense possibly damaging 0.56
R4693:Gosr2 UTSW 11 103,574,755 (GRCm39) missense probably benign 0.00
R6560:Gosr2 UTSW 11 103,577,508 (GRCm39) missense probably damaging 1.00
R8056:Gosr2 UTSW 11 103,588,530 (GRCm39) unclassified probably benign
R9311:Gosr2 UTSW 11 103,574,693 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCTTGGTGACCCAAGGTCCTACTC -3'
(R):5'- GCTAGTAAAACCCTGGCTGTGGTG -3'

Sequencing Primer
(F):5'- AGGTCCTACTCCCCAGATG -3'
(R):5'- TTTAACCACCCTTGACAGTGAG -3'
Posted On 2014-05-23