Incidental Mutation 'R5533:Golm2'
ID 433735
Institutional Source Beutler Lab
Gene Symbol Golm2
Ensembl Gene ENSMUSG00000060227
Gene Name golgi membrane protein 2
Synonyms D130060C09Rik, Casc4
MMRRC Submission 043091-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5533 (G1)
Quality Score 217
Status Not validated
Chromosome 2
Chromosomal Location 121697451-121766701 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) AGATGGTGATGGTG to AGATGGTG at 121756178 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000117883 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078752] [ENSMUST00000089912] [ENSMUST00000089915] [ENSMUST00000110586] [ENSMUST00000136023]
AlphaFold Q6P2L7
Predicted Effect probably benign
Transcript: ENSMUST00000078752
SMART Domains Protein: ENSMUSP00000077811
Gene: ENSMUSG00000060227

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
coiled coil region 37 195 N/A INTRINSIC
low complexity region 400 418 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000089912
SMART Domains Protein: ENSMUSP00000087357
Gene: ENSMUSG00000060227

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
coiled coil region 37 195 N/A INTRINSIC
low complexity region 367 385 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000089915
SMART Domains Protein: ENSMUSP00000087360
Gene: ENSMUSG00000060227

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
coiled coil region 37 195 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110586
SMART Domains Protein: ENSMUSP00000106216
Gene: ENSMUSG00000060227

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
coiled coil region 37 195 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126256
Predicted Effect probably benign
Transcript: ENSMUST00000136023
SMART Domains Protein: ENSMUSP00000117883
Gene: ENSMUSG00000060227

DomainStartEndE-ValueType
coiled coil region 2 83 N/A INTRINSIC
Coding Region Coverage
  • 1x: 98.4%
  • 3x: 97.1%
  • 10x: 94.5%
  • 20x: 88.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The increased expression level of this gene is associated with HER-2/neu proto-oncogene overexpression. Amplification and resulting overexpression of this proto-oncogene are found in approximately 30% of human breast and 20% of human ovarian cancers. Alternatively spliced variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Dec 2010]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agap2 A G 10: 126,918,911 (GRCm39) E429G probably damaging Het
Akap12 T A 10: 4,307,405 (GRCm39) V1405D probably damaging Het
Akap7 C T 10: 25,159,880 (GRCm39) D107N possibly damaging Het
Arfgef1 A G 1: 10,269,952 (GRCm39) probably null Het
Cacna1s T A 1: 136,026,113 (GRCm39) probably null Het
Ctsd T C 7: 141,931,070 (GRCm39) Q274R probably benign Het
Dysf G A 6: 84,163,453 (GRCm39) R1575Q probably damaging Het
Erich6b A T 14: 75,896,274 (GRCm39) L53F possibly damaging Het
Exoc6 A C 19: 37,582,218 (GRCm39) probably null Het
Fbxw19 A T 9: 109,315,133 (GRCm39) V143E probably benign Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Fndc1 A G 17: 7,991,608 (GRCm39) F696S unknown Het
Foxa3 G T 7: 18,748,940 (GRCm39) Y102* probably null Het
Foxn1 A G 11: 78,256,792 (GRCm39) M301T probably damaging Het
Foxp2 C T 6: 15,197,119 (GRCm39) Q54* probably null Het
Glra1 T C 11: 55,423,208 (GRCm39) E117G possibly damaging Het
Glt1d1 A T 5: 127,768,095 (GRCm39) D234V probably damaging Het
Gulp1 T C 1: 44,812,441 (GRCm39) I137T probably damaging Het
Itga8 A G 2: 12,165,161 (GRCm39) V816A possibly damaging Het
Kdm4c G A 4: 74,233,886 (GRCm39) probably benign Het
Krtap19-2 A G 16: 88,670,996 (GRCm39) probably benign Het
Lcorl T C 5: 45,891,219 (GRCm39) N378S possibly damaging Het
Ltbr G A 6: 125,289,757 (GRCm39) R146W probably damaging Het
Mocos T C 18: 24,807,357 (GRCm39) L363P probably damaging Het
Mycbp2 G T 14: 103,520,081 (GRCm39) Y745* probably null Het
Nav3 A C 10: 109,719,539 (GRCm39) N141K possibly damaging Het
Ncor1 T C 11: 62,233,837 (GRCm39) N779S probably benign Het
Nebl G T 2: 17,398,079 (GRCm39) Y414* probably null Het
Nf1 T G 11: 79,336,615 (GRCm39) C1065G probably damaging Het
Nfib A G 4: 82,278,004 (GRCm39) V216A probably damaging Het
Nub1 A T 5: 24,907,379 (GRCm39) N354I possibly damaging Het
Nyap1 C T 5: 137,733,726 (GRCm39) V436I probably benign Het
Or5m11b A G 2: 85,805,797 (GRCm39) D70G possibly damaging Het
Or5p73 T C 7: 108,065,469 (GRCm39) F313L probably benign Het
Pde2a T A 7: 101,155,187 (GRCm39) M570K probably damaging Het
Pfas T C 11: 68,882,296 (GRCm39) S856G probably benign Het
Pkd1l2 T C 8: 117,794,855 (GRCm39) E368G probably benign Het
Ptf1a G A 2: 19,451,969 (GRCm39) V323M probably damaging Het
Ptprh T C 7: 4,552,504 (GRCm39) Y920C probably damaging Het
Sergef T A 7: 46,264,200 (GRCm39) D229V possibly damaging Het
Slc1a4 T C 11: 20,254,417 (GRCm39) K483R probably benign Het
Slc26a6 G A 9: 108,735,155 (GRCm39) R351H probably damaging Het
Slc6a19 G A 13: 73,833,948 (GRCm39) T370I possibly damaging Het
Smpd5 T C 15: 76,178,757 (GRCm39) S42P possibly damaging Het
Snx13 G A 12: 35,173,025 (GRCm39) probably null Het
Sox10 G A 15: 79,040,502 (GRCm39) S185L probably benign Het
Spata31e5 T A 1: 28,817,163 (GRCm39) I290F probably damaging Het
Srpk1 T C 17: 28,821,733 (GRCm39) Y227C probably damaging Het
Stambpl1 T A 19: 34,211,316 (GRCm39) probably null Het
Stk36 A G 1: 74,665,750 (GRCm39) R698G possibly damaging Het
Tas2r122 T A 6: 132,688,393 (GRCm39) T167S probably damaging Het
Tlr12 A G 4: 128,509,656 (GRCm39) S865P probably damaging Het
Trp53bp1 A G 2: 121,038,227 (GRCm39) L1537P probably damaging Het
Vstm2a C A 11: 16,213,125 (GRCm39) T170K possibly damaging Het
Xpo7 A T 14: 70,931,407 (GRCm39) F304I probably damaging Het
Zfp286 T C 11: 62,671,796 (GRCm39) probably benign Het
Zfp985 A T 4: 147,667,440 (GRCm39) K103* probably null Het
Other mutations in Golm2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Golm2 APN 2 121,741,274 (GRCm39) splice site probably benign
IGL01020:Golm2 APN 2 121,756,203 (GRCm39) missense probably benign 0.06
IGL01794:Golm2 APN 2 121,742,407 (GRCm39) missense probably benign 0.36
IGL02429:Golm2 APN 2 121,742,468 (GRCm39) missense probably benign 0.00
R0126:Golm2 UTSW 2 121,736,565 (GRCm39) splice site probably benign
R0709:Golm2 UTSW 2 121,697,906 (GRCm39) missense probably damaging 1.00
R2182:Golm2 UTSW 2 121,697,909 (GRCm39) missense probably damaging 1.00
R4771:Golm2 UTSW 2 121,756,126 (GRCm39) missense probably damaging 1.00
R5817:Golm2 UTSW 2 121,736,525 (GRCm39) missense probably benign 0.30
R6519:Golm2 UTSW 2 121,737,218 (GRCm39) missense probably benign 0.31
R6598:Golm2 UTSW 2 121,763,967 (GRCm39) missense probably damaging 1.00
R6598:Golm2 UTSW 2 121,763,966 (GRCm39) missense probably damaging 1.00
R7799:Golm2 UTSW 2 121,764,022 (GRCm39) missense probably benign 0.01
R8009:Golm2 UTSW 2 121,737,242 (GRCm39) missense probably benign 0.00
R8359:Golm2 UTSW 2 121,697,632 (GRCm39) start gained probably benign
R8360:Golm2 UTSW 2 121,697,632 (GRCm39) start gained probably benign
R8995:Golm2 UTSW 2 121,756,199 (GRCm39) missense probably damaging 1.00
R9095:Golm2 UTSW 2 121,756,096 (GRCm39) missense probably damaging 1.00
R9620:Golm2 UTSW 2 121,737,242 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CCAGTACCCTGAAAGTTGCTGG -3'
(R):5'- TGCCTCAAGTGACACCTACG -3'

Sequencing Primer
(F):5'- ACCCTGAAAGTTGCTGGGTTTC -3'
(R):5'- GTGACACCTACGTTCATTTCAAAC -3'
Posted On 2016-10-06