Incidental Mutation 'R6560:Gosr2'
ID 522027
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 044684-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6560 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 103567675-103588724 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 103577508 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 79 (H79R)
Ref Sequence ENSEMBL: ENSMUSP00000102627 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021329] [ENSMUST00000107013]
AlphaFold O35166
Predicted Effect possibly damaging
Transcript: ENSMUST00000021329
AA Change: H79R

PolyPhen 2 Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000021329
Gene: ENSMUSG00000020946
AA Change: H79R

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 damaging
Transcript: ENSMUST00000107013
AA Change: H79R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000102627
Gene: ENSMUSG00000020946
AA Change: H79R

DomainStartEndE-ValueType
coiled coil region 60 90 N/A INTRINSIC
transmembrane domain 145 164 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145265
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.8%
Validation Efficiency
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T A 10: 79,843,230 (GRCm39) L1235Q probably damaging Het
Acin1 T C 14: 54,916,290 (GRCm39) T174A probably benign Het
Adamtsl1 G A 4: 86,255,130 (GRCm39) R733H probably damaging Het
Akr1b1 C T 6: 34,286,939 (GRCm39) V206M possibly damaging Het
Arsk A T 13: 76,223,105 (GRCm39) I164N probably benign Het
Bbs5 T A 2: 69,487,300 (GRCm39) N194K probably damaging Het
Bicra T C 7: 15,723,119 (GRCm39) T133A possibly damaging Het
Card6 G A 15: 5,128,367 (GRCm39) P1010S probably damaging Het
Ccdc18 T A 5: 108,339,790 (GRCm39) N778K probably benign Het
Cept1 T C 3: 106,412,594 (GRCm39) I240V possibly damaging Het
Crip3 A G 17: 46,741,962 (GRCm39) R150G probably damaging Het
Cyp2c50 A G 19: 40,085,299 (GRCm39) T320A probably benign Het
Dio2 G C 12: 90,696,607 (GRCm39) S127* probably null Het
Dnai3 T C 3: 145,801,161 (GRCm39) E99G possibly damaging Het
Dscam T C 16: 96,626,935 (GRCm39) S325G probably benign Het
Exosc4 A G 15: 76,211,813 (GRCm39) I41V probably benign Het
Glb1l3 C T 9: 26,739,720 (GRCm39) probably null Het
Gm10801 C CGTG 2: 98,494,152 (GRCm39) probably null Het
Gm3072 T A 14: 41,345,510 (GRCm39) D89V unknown Het
Has2 T A 15: 56,531,660 (GRCm39) T352S probably damaging Het
Insig1 T A 5: 28,276,531 (GRCm39) C32* probably null Het
Klf9 A G 19: 23,119,314 (GRCm39) S66G probably damaging Het
Mfn1 T C 3: 32,623,665 (GRCm39) I263T probably damaging Het
Myl2 G A 5: 122,240,834 (GRCm39) G38R probably null Het
Negr1 A G 3: 157,018,494 (GRCm39) T332A probably benign Het
Neo1 A G 9: 58,787,884 (GRCm39) S1417P possibly damaging Het
Or52ab4 T C 7: 102,987,945 (GRCm39) F228S probably benign Het
Or7e168 G A 9: 19,720,412 (GRCm39) S266N probably benign Het
Pcgf3 C A 5: 108,621,768 (GRCm39) H35Q probably damaging Het
Plppr5 A G 3: 117,465,639 (GRCm39) I297V probably benign Het
Plxna4 C T 6: 32,192,613 (GRCm39) V783M probably damaging Het
Prx A T 7: 27,214,746 (GRCm39) Q85H probably damaging Het
Tex14 T G 11: 87,388,688 (GRCm39) M305R possibly damaging Het
Ythdc1 T C 5: 86,964,467 (GRCm39) V92A probably benign Het
Zfp619 G A 7: 39,186,954 (GRCm39) E995K probably damaging Het
Zfp90 A G 8: 107,142,379 (GRCm39) R4G probably damaging Het
Other mutations in Gosr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1736:Gosr2 UTSW 11 103,570,076 (GRCm39) nonsense probably null
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
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'- TTCAGGCACTCCGCTAAGAG -3'
(R):5'- AGAGCCCAGCAGACATTTGAG -3'

Sequencing Primer
(F):5'- ACTCCGCTAAGAGGTGATGC -3'
(R):5'- GGAGCTGTGTGTAATTTTACCCACC -3'
Posted On 2018-06-06