Incidental Mutation 'R2182:Golm2'
ID 237220
Institutional Source Beutler Lab
Gene Symbol Golm2
Ensembl Gene ENSMUSG00000060227
Gene Name golgi membrane protein 2
Synonyms D130060C09Rik, Casc4
MMRRC Submission 040184-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2182 (G1)
Quality Score 207
Status Not validated
Chromosome 2
Chromosomal Location 121697451-121766701 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 121697909 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 75 (D75G)
Ref Sequence ENSEMBL: ENSMUSP00000106216 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078752] [ENSMUST00000089912] [ENSMUST00000089915] [ENSMUST00000110586]
AlphaFold Q6P2L7
Predicted Effect probably damaging
Transcript: ENSMUST00000078752
AA Change: D75G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000077811
Gene: ENSMUSG00000060227
AA Change: D75G

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 damaging
Transcript: ENSMUST00000089912
AA Change: D75G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000087357
Gene: ENSMUSG00000060227
AA Change: D75G

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 damaging
Transcript: ENSMUST00000089915
AA Change: D75G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000087360
Gene: ENSMUSG00000060227
AA Change: D75G

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
coiled coil region 37 195 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000110586
AA Change: D75G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000106216
Gene: ENSMUSG00000060227
AA Change: D75G

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 noncoding transcript
Transcript: ENSMUST00000127475
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135416
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131514
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.6%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930550C14Rik A G 9: 53,334,243 (GRCm39) H17R probably damaging Het
Abca15 G A 7: 119,939,450 (GRCm39) W281* probably null Het
Aloxe3 G A 11: 69,020,426 (GRCm39) V157M possibly damaging Het
Arhgap26 G T 18: 39,490,862 (GRCm39) probably benign Het
Atp7b T C 8: 22,504,563 (GRCm39) N698S probably damaging Het
Clec4a4 A G 6: 122,990,716 (GRCm39) probably null Het
Clgn C T 8: 84,137,039 (GRCm39) T252I possibly damaging Het
Cyp2a12 A T 7: 26,730,571 (GRCm39) N179Y probably damaging Het
D630045J12Rik C T 6: 38,151,082 (GRCm39) probably null Het
Dennd5a G T 7: 109,533,201 (GRCm39) R190S probably benign Het
Dtx4 C A 19: 12,460,471 (GRCm39) G384V probably null Het
Dxo T C 17: 35,057,868 (GRCm39) V191A probably benign Het
Eprs1 G A 1: 185,111,939 (GRCm39) probably null Het
Fntb A G 12: 76,909,309 (GRCm39) N99S probably benign Het
Gm5773 T A 3: 93,680,820 (GRCm39) I164K probably benign Het
Hyal5 T C 6: 24,877,879 (GRCm39) I325T probably damaging Het
Igsf8 G A 1: 172,118,295 (GRCm39) probably null Het
Lamc2 A G 1: 153,002,612 (GRCm39) V17A possibly damaging Het
Lpxn T C 19: 12,810,122 (GRCm39) probably null Het
Macf1 A G 4: 123,386,464 (GRCm39) V1296A probably damaging Het
Mpdz A T 4: 81,266,959 (GRCm39) L318Q probably damaging Het
Mpl T A 4: 118,314,610 (GRCm39) Q13L probably benign Het
Mpnd A G 17: 56,322,964 (GRCm39) S399G probably benign Het
Mrps5 T C 2: 127,444,407 (GRCm39) L347P probably damaging Het
Naip1 T A 13: 100,550,188 (GRCm39) Q1217H probably benign Het
Nav2 G A 7: 49,247,002 (GRCm39) V2176I probably benign Het
Obi1 A G 14: 104,743,612 (GRCm39) S156P possibly damaging Het
Or13p3 T C 4: 118,567,542 (GRCm39) *313R probably null Het
Or7g33 T C 9: 19,448,638 (GRCm39) N196S probably benign Het
Or8b43 A G 9: 38,360,420 (GRCm39) N84S probably benign Het
Or8g36 A T 9: 39,422,722 (GRCm39) M98K probably damaging Het
Pbx2 C A 17: 34,814,640 (GRCm39) Y324* probably null Het
Pcsk7 T A 9: 45,839,917 (GRCm39) C702S probably benign Het
Pramel11 T A 4: 143,623,760 (GRCm39) H138L possibly damaging Het
Rictor T C 15: 6,801,685 (GRCm39) S458P probably damaging Het
Scaf4 T C 16: 90,027,028 (GRCm39) M905V probably benign Het
Scarf2 T C 16: 17,620,886 (GRCm39) C185R probably damaging Het
Scd1 T G 19: 44,391,732 (GRCm39) I101L probably benign Het
Slc6a2 A G 8: 93,687,876 (GRCm39) M1V probably null Het
Sost T C 11: 101,854,676 (GRCm39) Y211C probably damaging Het
Sphkap A G 1: 83,254,405 (GRCm39) S828P probably damaging Het
Tnn T C 1: 159,968,170 (GRCm39) probably null Het
Tnrc18 T C 5: 142,745,816 (GRCm39) K1319R unknown Het
Vmn2r60 A G 7: 41,844,931 (GRCm39) T765A probably benign Het
Vmn2r91 C A 17: 18,325,691 (GRCm39) T103K possibly damaging Het
Zbtb44 T C 9: 30,977,972 (GRCm39) C429R possibly damaging Het
Zc3h4 G A 7: 16,156,441 (GRCm39) G327D unknown Het
Zfp292 A G 4: 34,807,417 (GRCm39) C1876R probably damaging Het
Zfp839 C T 12: 110,834,772 (GRCm39) L676F probably damaging Het
Zg16 A G 7: 126,649,544 (GRCm39) L139P probably damaging Het
Zscan12 A G 13: 21,552,961 (GRCm39) I262V probably benign 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
R4771:Golm2 UTSW 2 121,756,126 (GRCm39) missense probably damaging 1.00
R5533:Golm2 UTSW 2 121,756,178 (GRCm39) intron probably benign
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'- GGTGCTACTGGTAGTCATCG -3'
(R):5'- CACCGGGAAAGTCTGACAAC -3'

Sequencing Primer
(F):5'- GCTACTGGTAGTCATCGTCGTC -3'
(R):5'- CCGGCGGGCGAATATTAATACC -3'
Posted On 2014-10-02