Incidental Mutation 'IGL02559:Gnas'
ID 298639
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gnas
Ensembl Gene ENSMUSG00000027523
Gene Name GNAS complex locus
Synonyms P2, Gnasxl, Gnas1, Nesp, neuroendocrine-specific Golgi protein p55 isoform 1, XLalphas, Gsa, Oedsml, Gs alpha, Nesp55, Galphas, Nespl, SCG6, Gs-alpha, P1, P3, G alpha s
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02559
Quality Score
Status
Chromosome 2
Chromosomal Location 174126113-174188537 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 174183729 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000139839 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080493] [ENSMUST00000087871] [ENSMUST00000087876] [ENSMUST00000109083] [ENSMUST00000109084] [ENSMUST00000109085] [ENSMUST00000109087] [ENSMUST00000109088] [ENSMUST00000109096] [ENSMUST00000130940] [ENSMUST00000185956] [ENSMUST00000168292] [ENSMUST00000186907] [ENSMUST00000130761] [ENSMUST00000180362]
AlphaFold Q6R0H7
Predicted Effect probably benign
Transcript: ENSMUST00000080493
SMART Domains Protein: ENSMUSP00000079341
Gene: ENSMUSG00000027523

DomainStartEndE-ValueType
low complexity region 19 48 N/A INTRINSIC
internal_repeat_1 89 166 3.02e-8 PROSPERO
internal_repeat_1 209 276 3.02e-8 PROSPERO
low complexity region 350 365 N/A INTRINSIC
low complexity region 391 404 N/A INTRINSIC
low complexity region 459 477 N/A INTRINSIC
low complexity region 480 498 N/A INTRINSIC
low complexity region 515 525 N/A INTRINSIC
low complexity region 535 570 N/A INTRINSIC
low complexity region 576 626 N/A INTRINSIC
low complexity region 633 643 N/A INTRINSIC
low complexity region 659 678 N/A INTRINSIC
low complexity region 685 696 N/A INTRINSIC
G_alpha 759 1132 5.01e-185 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000087871
SMART Domains Protein: ENSMUSP00000085179
Gene: ENSMUSG00000027523

DomainStartEndE-ValueType
G_alpha 20 393 1.27e-186 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000087876
SMART Domains Protein: ENSMUSP00000085184
Gene: ENSMUSG00000027523

DomainStartEndE-ValueType
low complexity region 19 48 N/A INTRINSIC
internal_repeat_1 89 166 2.42e-8 PROSPERO
internal_repeat_1 209 276 2.42e-8 PROSPERO
low complexity region 350 365 N/A INTRINSIC
low complexity region 391 404 N/A INTRINSIC
low complexity region 459 477 N/A INTRINSIC
low complexity region 480 498 N/A INTRINSIC
low complexity region 515 525 N/A INTRINSIC
low complexity region 535 570 N/A INTRINSIC
low complexity region 576 626 N/A INTRINSIC
low complexity region 633 643 N/A INTRINSIC
low complexity region 659 678 N/A INTRINSIC
low complexity region 685 696 N/A INTRINSIC
G_alpha 759 1118 8.32e-191 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109083
SMART Domains Protein: ENSMUSP00000104711
Gene: ENSMUSG00000027523

DomainStartEndE-ValueType
Pfam:G-alpha 1 87 5e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109084
SMART Domains Protein: ENSMUSP00000104712
Gene: ENSMUSG00000027523

DomainStartEndE-ValueType
G_alpha 20 378 1.23e-193 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109085
SMART Domains Protein: ENSMUSP00000104713
Gene: ENSMUSG00000027523

DomainStartEndE-ValueType
G_alpha 20 379 1.97e-192 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109087
SMART Domains Protein: ENSMUSP00000104715
Gene: ENSMUSG00000027523

DomainStartEndE-ValueType
G_alpha 20 393 1.27e-186 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109088
SMART Domains Protein: ENSMUSP00000104716
Gene: ENSMUSG00000027523

DomainStartEndE-ValueType
low complexity region 192 209 N/A INTRINSIC
low complexity region 336 352 N/A INTRINSIC
low complexity region 402 415 N/A INTRINSIC
low complexity region 421 446 N/A INTRINSIC
low complexity region 459 481 N/A INTRINSIC
low complexity region 493 510 N/A INTRINSIC
low complexity region 529 599 N/A INTRINSIC
low complexity region 643 658 N/A INTRINSIC
low complexity region 700 716 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000109096
SMART Domains Protein: ENSMUSP00000104724
Gene: ENSMUSG00000027523

DomainStartEndE-ValueType
Pfam:NESP55 1 253 1.2e-157 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000130940
SMART Domains Protein: ENSMUSP00000118210
Gene: ENSMUSG00000027523

DomainStartEndE-ValueType
Pfam:NESP55 1 59 1.6e-30 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154658
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156623
Predicted Effect probably benign
Transcript: ENSMUST00000185956
SMART Domains Protein: ENSMUSP00000140174
Gene: ENSMUSG00000027523

DomainStartEndE-ValueType
low complexity region 19 48 N/A INTRINSIC
internal_repeat_1 89 166 3.02e-8 PROSPERO
internal_repeat_1 209 276 3.02e-8 PROSPERO
low complexity region 350 365 N/A INTRINSIC
low complexity region 391 404 N/A INTRINSIC
low complexity region 459 477 N/A INTRINSIC
low complexity region 480 498 N/A INTRINSIC
low complexity region 515 525 N/A INTRINSIC
low complexity region 535 570 N/A INTRINSIC
low complexity region 576 626 N/A INTRINSIC
low complexity region 633 643 N/A INTRINSIC
low complexity region 659 678 N/A INTRINSIC
low complexity region 685 696 N/A INTRINSIC
G_alpha 759 1132 5.01e-185 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000168292
SMART Domains Protein: ENSMUSP00000127452
Gene: ENSMUSG00000090625

DomainStartEndE-ValueType
low complexity region 5 17 N/A INTRINSIC
low complexity region 117 129 N/A INTRINSIC
low complexity region 148 165 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124935
Predicted Effect probably benign
Transcript: ENSMUST00000186907
SMART Domains Protein: ENSMUSP00000139839
Gene: ENSMUSG00000027523

DomainStartEndE-ValueType
low complexity region 192 209 N/A INTRINSIC
low complexity region 336 352 N/A INTRINSIC
low complexity region 402 415 N/A INTRINSIC
low complexity region 421 446 N/A INTRINSIC
low complexity region 459 481 N/A INTRINSIC
low complexity region 493 510 N/A INTRINSIC
low complexity region 529 599 N/A INTRINSIC
low complexity region 643 658 N/A INTRINSIC
low complexity region 700 716 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131125
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148640
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129534
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133356
Predicted Effect probably benign
Transcript: ENSMUST00000130761
Predicted Effect probably benign
Transcript: ENSMUST00000180362
SMART Domains Protein: ENSMUSP00000136180
Gene: ENSMUSG00000027523

DomainStartEndE-ValueType
Pfam:NESP55 1 253 1.2e-157 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This locus has a highly complex imprinted expression pattern. It gives rise to maternally, paternally, and biallelically expressed transcripts that are derived from four alternative promoters and 5' exons. Some transcripts contain a differentially methylated region (DMR) at their 5' exons, which is commonly found in imprinted genes and correlates with transcript expression. This gene has an antisense transcript. One of the transcripts produced from this locus, and the antisense transcript, are both paternally expressed noncoding RNAs, and may regulate imprinting in this region. In addition, one of the transcripts contains a second overlapping ORF, which encodes a structurally unrelated protein - Alex. Alternative splicing of downstream exons is also observed, which results in different forms of the stimulatory G-protein alpha subunit, a key element of the classical signal transduction pathway linking receptor-ligand interactions with the activation of adenylyl cyclase and a variety of cellular reponses. Additional transcript variants have been found for this gene, but the full-length nature and/or biological validity of some variants have not been determined. [provided by RefSeq, Jun 2015]
PHENOTYPE: Mutant homozygotes stop developing normally by embryonic day 10.5 and die prenatally. On some backgrounds heterozygotes show imprinted phenotypes, including differences in body shape/weight, locomotor activity, metabolism, and developmental anomalies. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp C T 16: 56,507,433 (GRCm39) Q1004* probably null Het
Bahcc1 A G 11: 120,175,998 (GRCm39) D1914G probably damaging Het
Bcl11b A T 12: 107,881,653 (GRCm39) probably benign Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Col24a1 A T 3: 145,019,934 (GRCm39) I102F probably benign Het
Col7a1 C T 9: 108,802,284 (GRCm39) R2063C unknown Het
Ddo T A 10: 40,523,517 (GRCm39) L169Q probably damaging Het
Defb4 G T 8: 19,251,313 (GRCm39) C60F probably damaging Het
Dock9 A T 14: 121,862,559 (GRCm39) probably benign Het
Dysf A T 6: 84,044,428 (GRCm39) probably benign Het
Fasn G A 11: 120,699,892 (GRCm39) A2253V possibly damaging Het
Fbxw26 T C 9: 109,551,232 (GRCm39) D355G probably benign Het
Gak C T 5: 108,732,098 (GRCm39) E797K probably null Het
Gm10654 T C 8: 71,384,774 (GRCm39) noncoding transcript Het
H2bc11 T A 13: 22,227,533 (GRCm39) V45E possibly damaging Het
Hdac3 A G 18: 38,087,944 (GRCm39) F8S probably damaging Het
Hrh4 T C 18: 13,140,301 (GRCm39) probably null Het
Klhl1 A G 14: 96,389,396 (GRCm39) V586A possibly damaging Het
Lct T C 1: 128,222,003 (GRCm39) N1512S probably damaging Het
Mmp28 G T 11: 83,338,566 (GRCm39) N128K probably benign Het
Mndal T C 1: 173,700,486 (GRCm39) T162A probably benign Het
Myh3 A G 11: 66,991,921 (GRCm39) E1822G possibly damaging Het
Mylpf A G 7: 126,813,315 (GRCm39) Y133C probably damaging Het
Nup210l G A 3: 90,067,260 (GRCm39) A767T probably benign Het
Or10j3b T C 1: 173,044,088 (GRCm39) V290A probably damaging Het
Or52n2 T A 7: 104,542,161 (GRCm39) R225W probably benign Het
Or5au1 A G 14: 52,273,464 (GRCm39) Y35H probably damaging Het
Paics A G 5: 77,112,451 (GRCm39) I312V possibly damaging Het
Pkdrej G T 15: 85,702,049 (GRCm39) Q1296K probably benign Het
Rufy1 A G 11: 50,311,310 (GRCm39) F170L probably damaging Het
Shcbp1 T A 8: 4,799,305 (GRCm39) E93V probably damaging Het
Slamf1 T A 1: 171,594,826 (GRCm39) I11K possibly damaging Het
Slc5a5 C T 8: 71,342,915 (GRCm39) G215D probably damaging Het
Slco1a1 A T 6: 141,867,514 (GRCm39) V473D probably benign Het
Slit1 A G 19: 41,709,524 (GRCm39) V123A probably benign Het
Srgap2 A C 1: 131,452,674 (GRCm39) probably null Het
Stk32c T C 7: 138,700,606 (GRCm39) M208V probably benign Het
Syt15 T C 14: 33,943,760 (GRCm39) V103A probably benign Het
Tacc2 T A 7: 130,360,997 (GRCm39) L456Q probably damaging Het
Tanc1 A G 2: 59,554,998 (GRCm39) probably benign Het
Tepsin G T 11: 119,987,731 (GRCm39) D62E probably benign Het
Thap3 T C 4: 152,068,144 (GRCm39) D106G probably benign Het
Ttn T C 2: 76,616,561 (GRCm39) D14818G probably damaging Het
Txndc2 T C 17: 65,946,585 (GRCm39) N39S possibly damaging Het
Ubxn11 A G 4: 133,852,254 (GRCm39) E200G probably damaging Het
Vmn2r11 T G 5: 109,200,046 (GRCm39) Q469P probably damaging Het
Yipf2 T C 9: 21,503,482 (GRCm39) T22A probably damaging Het
Ypel1 T C 16: 16,927,515 (GRCm39) K26E possibly damaging Het
Other mutations in Gnas
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00565:Gnas APN 2 174,183,504 (GRCm39) splice site probably benign
IGL00928:Gnas APN 2 174,139,746 (GRCm39) nonsense probably null
IGL01014:Gnas APN 2 174,139,767 (GRCm39) utr 5 prime probably benign
IGL01743:Gnas APN 2 174,140,125 (GRCm39) nonsense probably null
IGL01808:Gnas APN 2 174,140,490 (GRCm39) missense probably damaging 0.96
R0555:Gnas UTSW 2 174,140,304 (GRCm39) missense possibly damaging 0.78
R0627:Gnas UTSW 2 174,139,928 (GRCm39) intron probably benign
R1418:Gnas UTSW 2 174,187,007 (GRCm39) splice site probably benign
R1706:Gnas UTSW 2 174,141,768 (GRCm39) missense possibly damaging 0.90
R1751:Gnas UTSW 2 174,139,687 (GRCm39) utr 5 prime probably benign
R1968:Gnas UTSW 2 174,140,526 (GRCm39) missense probably damaging 0.96
R2290:Gnas UTSW 2 174,141,803 (GRCm39) missense probably benign 0.09
R4125:Gnas UTSW 2 174,141,958 (GRCm39) missense possibly damaging 0.94
R4128:Gnas UTSW 2 174,141,958 (GRCm39) missense possibly damaging 0.94
R4697:Gnas UTSW 2 174,139,873 (GRCm39) missense probably damaging 1.00
R4888:Gnas UTSW 2 174,139,882 (GRCm39) missense possibly damaging 0.94
R5458:Gnas UTSW 2 174,140,124 (GRCm39) missense probably benign 0.41
R5640:Gnas UTSW 2 174,126,764 (GRCm39) missense probably benign 0.44
R5696:Gnas UTSW 2 174,141,468 (GRCm39) intron probably benign
R5757:Gnas UTSW 2 174,187,040 (GRCm39) missense probably damaging 1.00
R6053:Gnas UTSW 2 174,141,645 (GRCm39) missense possibly damaging 0.89
R6083:Gnas UTSW 2 174,139,655 (GRCm39) start codon destroyed probably null
R6736:Gnas UTSW 2 174,176,044 (GRCm39) missense probably damaging 0.98
R7074:Gnas UTSW 2 174,126,842 (GRCm39) missense probably damaging 1.00
R7239:Gnas UTSW 2 174,140,408 (GRCm39) missense unknown
R7541:Gnas UTSW 2 174,139,892 (GRCm39) missense unknown
R7679:Gnas UTSW 2 174,126,624 (GRCm39) missense probably damaging 0.99
R7694:Gnas UTSW 2 174,142,005 (GRCm39) missense probably damaging 1.00
R7713:Gnas UTSW 2 174,140,820 (GRCm39) missense unknown
R7834:Gnas UTSW 2 174,140,783 (GRCm39) nonsense probably null
R8138:Gnas UTSW 2 174,140,179 (GRCm39) missense probably benign 0.06
R8459:Gnas UTSW 2 174,126,732 (GRCm39) missense probably benign 0.05
R8537:Gnas UTSW 2 174,140,394 (GRCm39) missense possibly damaging 0.83
R8731:Gnas UTSW 2 174,126,699 (GRCm39) missense probably benign 0.01
R8924:Gnas UTSW 2 174,141,277 (GRCm39) missense unknown
R9431:Gnas UTSW 2 174,139,826 (GRCm39) missense unknown
R9513:Gnas UTSW 2 174,185,089 (GRCm39) missense probably damaging 0.98
R9617:Gnas UTSW 2 174,141,988 (GRCm39) missense possibly damaging 0.90
R9710:Gnas UTSW 2 174,141,132 (GRCm39) missense unknown
R9711:Gnas UTSW 2 174,141,392 (GRCm39) missense unknown
R9762:Gnas UTSW 2 174,140,639 (GRCm39) nonsense probably null
X0022:Gnas UTSW 2 174,141,537 (GRCm39) missense probably benign 0.33
Z1088:Gnas UTSW 2 174,140,166 (GRCm39) missense probably benign 0.27
Z1176:Gnas UTSW 2 174,140,399 (GRCm39) missense unknown
Z1177:Gnas UTSW 2 174,126,680 (GRCm39) missense unknown
Posted On 2015-04-16