Incidental Mutation 'R5046:Gal'
ID 394398
Institutional Source Beutler Lab
Gene Symbol Gal
Ensembl Gene ENSMUSG00000024907
Gene Name galanin
Synonyms Galn
MMRRC Submission 042636-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5046 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 3409919-3414472 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 3411167 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 89 (R89H)
Ref Sequence ENSEMBL: ENSMUSP00000025842 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025840] [ENSMUST00000025842] [ENSMUST00000127142] [ENSMUST00000142193]
AlphaFold P47212
Predicted Effect probably benign
Transcript: ENSMUST00000025840
SMART Domains Protein: ENSMUSP00000025840
Gene: ENSMUSG00000024905

low complexity region 91 99 N/A INTRINSIC
low complexity region 107 123 N/A INTRINSIC
Blast:CXC 246 287 4e-13 BLAST
CXC 332 373 1.37e-17 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000025842
AA Change: R89H

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000025842
Gene: ENSMUSG00000024907
AA Change: R89H

low complexity region 6 18 N/A INTRINSIC
Galanin 20 124 3.41e-68 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000127142
SMART Domains Protein: ENSMUSP00000122687
Gene: ENSMUSG00000024905

Blast:CXC 67 107 1e-13 BLAST
CXC 152 193 1.37e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000142193
SMART Domains Protein: ENSMUSP00000114171
Gene: ENSMUSG00000024905

Blast:CXC 67 107 1e-13 BLAST
CXC 152 193 1.37e-17 SMART
Meta Mutation Damage Score 0.4159 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.1%
Validation Efficiency 100% (52/52)
MGI Phenotype FUNCTION: This gene encodes a neuroendocrine peptide that is principally produced by a subpopulation of lactotrophs in the pituitary gland. The encoded protein is a precursor that is proteolytically processed to generate two mature peptides: galanin and galanin message-associated peptide (GMAP). Mice lacking the encoded protein fail to lactate sufficiently due to abnormalities in the expression of prolactin and lactotroph proliferation, exhibit attenuated chronic neuropathic pain and developmental deficits in the dorsal root ganglion neurons. This gene encodes distinct isoforms, some or all of which may undergo similar processing to generate the mature proteins. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygous inactivation of this gene leads to alterations in neuroendocrine homeostasis, prolactin release, lactotroph number, mammary gland maturation, lactation, susceptibility to neuronal excitotoxicity and induced seizures, sensory neuron developmentand regeneration, and long term potentiation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm4 C A 7: 119,703,374 (GRCm38) H241N probably damaging Het
Arhgap32 G A 9: 32,256,799 (GRCm38) A693T probably damaging Het
B4galnt3 G T 6: 120,214,798 (GRCm38) A658D probably damaging Het
Car12 G A 9: 66,746,613 (GRCm38) E84K probably benign Het
Crocc2 T A 1: 93,205,902 (GRCm38) S969T probably damaging Het
Crym A G 7: 120,195,444 (GRCm38) V184A possibly damaging Het
Cryzl2 T C 1: 157,465,013 (GRCm38) C122R probably damaging Het
Defb30 T C 14: 63,036,014 (GRCm38) E49G probably benign Het
Dnah3 A G 7: 119,951,580 (GRCm38) L3161P probably damaging Het
Dnajc5g A G 5: 31,109,692 (GRCm38) N104S probably benign Het
Fcgr1 T G 3: 96,286,986 (GRCm38) K195T probably damaging Het
Gcfc2 C T 6: 81,948,335 (GRCm38) A577V probably benign Het
Gm5116 A C 7: 32,495,954 (GRCm38) noncoding transcript Het
Golga3 A T 5: 110,192,940 (GRCm38) Q540L probably damaging Het
Hectd1 T C 12: 51,750,388 (GRCm38) E2184G probably damaging Het
Hspa12a T C 19: 58,799,545 (GRCm38) D615G probably damaging Het
Igkv14-130 A T 6: 67,791,481 (GRCm38) Y107F probably damaging Het
Ldlr T A 9: 21,745,907 (GRCm38) probably null Het
Lin9 T A 1: 180,669,198 (GRCm38) L351I probably benign Het
Lrrc37a A T 11: 103,498,240 (GRCm38) S2120T unknown Het
Mtfmt G T 9: 65,439,615 (GRCm38) V164F probably damaging Het
Nampt T C 12: 32,833,038 (GRCm38) V74A probably damaging Het
Ndufc2 G T 7: 97,407,664 (GRCm38) R120L probably damaging Het
Neo1 A T 9: 58,893,911 (GRCm38) V1156D possibly damaging Het
Nlrp1b G A 11: 71,160,072 (GRCm38) P1065S possibly damaging Het
Nop9 A G 14: 55,745,940 (GRCm38) H56R possibly damaging Het
Or4k41 A T 2: 111,449,589 (GRCm38) T150S probably benign Het
Or6c75 A T 10: 129,501,309 (GRCm38) M142L possibly damaging Het
Pign A T 1: 105,522,073 (GRCm38) N909K possibly damaging Het
Prex1 A G 2: 166,572,963 (GRCm38) V304A probably benign Het
Racgap1 G A 15: 99,628,762 (GRCm38) R307W probably damaging Het
Rap1gds1 C A 3: 138,955,420 (GRCm38) E399* probably null Het
Rwdd4a G A 8: 47,542,802 (GRCm38) probably null Het
Sanbr A C 11: 23,620,354 (GRCm38) M182R probably benign Het
Scp2 T C 4: 108,071,291 (GRCm38) T401A probably benign Het
Sdha A G 13: 74,327,333 (GRCm38) F526S probably damaging Het
Shroom1 T A 11: 53,464,045 (GRCm38) L264Q probably benign Het
Sorl1 T C 9: 41,996,294 (GRCm38) T1466A probably benign Het
Trpm2 C T 10: 77,966,018 (GRCm38) C71Y probably damaging Het
Ugt2b34 G A 5: 86,904,387 (GRCm38) S250L probably benign Het
Vmn2r88 A G 14: 51,413,181 (GRCm38) D117G probably benign Het
Wdr73 A T 7: 80,892,425 (GRCm38) probably benign Het
Other mutations in Gal
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00922:Gal APN 19 3,411,575 (GRCm38) missense probably benign 0.02
R0385:Gal UTSW 19 3,411,171 (GRCm38) missense probably benign 0.13
R3605:Gal UTSW 19 3,414,026 (GRCm38) splice site probably null
R4817:Gal UTSW 19 3,411,126 (GRCm38) splice site probably null
R4911:Gal UTSW 19 3,411,590 (GRCm38) missense probably benign 0.15
R5921:Gal UTSW 19 3,410,100 (GRCm38) missense probably damaging 0.99
R6660:Gal UTSW 19 3,410,108 (GRCm38) missense possibly damaging 0.52
R7658:Gal UTSW 19 3,413,309 (GRCm38) missense probably damaging 1.00
X0065:Gal UTSW 19 3,411,181 (GRCm38) missense probably benign 0.15
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-06-15