Incidental Mutation 'R6083:Gnas'
ID 482282
Institutional Source Beutler Lab
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
MMRRC Submission 044242-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6083 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 174126113-174188537 bp(+) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) A to G at 174139655 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 1 (M1V)
Ref Sequence ENSEMBL: ENSMUSP00000140174 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080493] [ENSMUST00000087876] [ENSMUST00000087877] [ENSMUST00000109088] [ENSMUST00000109095] [ENSMUST00000109096] [ENSMUST00000130761] [ENSMUST00000185956] [ENSMUST00000186907] [ENSMUST00000130940] [ENSMUST00000180362]
AlphaFold Q6R0H7
Predicted Effect probably null
Transcript: ENSMUST00000080493
AA Change: M1V
SMART Domains Protein: ENSMUSP00000079341
Gene: ENSMUSG00000027523
AA Change: M1V

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 null
Transcript: ENSMUST00000087876
AA Change: M1V
SMART Domains Protein: ENSMUSP00000085184
Gene: ENSMUSG00000027523
AA Change: M1V

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 null
Transcript: ENSMUST00000087877
AA Change: M1V
SMART Domains Protein: ENSMUSP00000085185
Gene: ENSMUSG00000027523
AA Change: M1V

DomainStartEndE-ValueType
low complexity region 19 48 N/A INTRINSIC
internal_repeat_1 89 166 1.1e-8 PROSPERO
internal_repeat_1 209 276 1.1e-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
Blast:G_alpha 759 799 2e-14 BLAST
low complexity region 802 816 N/A INTRINSIC
low complexity region 847 859 N/A INTRINSIC
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: ENSMUST00000109095
SMART Domains Protein: ENSMUSP00000104723
Gene: ENSMUSG00000027523

DomainStartEndE-ValueType
Pfam:NESP55 1 253 1.2e-157 PFAM
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: ENSMUST00000130761
Predicted Effect probably null
Transcript: ENSMUST00000185956
AA Change: M1V
SMART Domains Protein: ENSMUSP00000140174
Gene: ENSMUSG00000027523
AA Change: M1V

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: 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: ENSMUST00000154658
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150276
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151472
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184327
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183673
Predicted Effect probably benign
Transcript: ENSMUST00000130940
SMART Domains Protein: ENSMUSP00000118210
Gene: ENSMUSG00000027523

DomainStartEndE-ValueType
Pfam:NESP55 1 59 1.6e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000180362
SMART Domains Protein: ENSMUSP00000136180
Gene: ENSMUSG00000027523

DomainStartEndE-ValueType
Pfam:NESP55 1 253 1.2e-157 PFAM
Meta Mutation Damage Score 0.9609 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.6%
Validation Efficiency 96% (76/79)
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik C A 11: 58,769,677 (GRCm39) P73Q possibly damaging Het
Aak1 A T 6: 86,940,978 (GRCm39) I591F unknown Het
Ace C A 11: 105,876,093 (GRCm39) Y816* probably null Het
Ahnak2 A G 12: 112,746,715 (GRCm39) V1205A probably benign Het
Ahnak2 T G 12: 112,746,589 (GRCm39) Q1076P probably benign Het
Ap2a1 G A 7: 44,557,175 (GRCm39) R263W probably damaging Het
Arhgap29 A G 3: 121,786,397 (GRCm39) T257A probably benign Het
Bora A T 14: 99,299,730 (GRCm39) Q234L possibly damaging Het
Ccdc17 A T 4: 116,454,123 (GRCm39) Q47L possibly damaging Het
Cep170 C T 1: 176,602,191 (GRCm39) R305H probably damaging Het
Cyb5r4 C T 9: 86,939,221 (GRCm39) P335S probably damaging Het
Cyp2c54 A G 19: 40,062,206 (GRCm39) L17P probably benign Het
Cyp2c69 A T 19: 39,837,900 (GRCm39) V394E probably damaging Het
Dedd2 G A 7: 24,910,715 (GRCm39) P154S probably benign Het
Defb36 A T 2: 152,446,408 (GRCm39) M1L unknown Het
Dnaja1 A G 4: 40,731,713 (GRCm39) D263G probably benign Het
Dock10 T C 1: 80,510,148 (GRCm39) N1560S probably damaging Het
Efnb2 T C 8: 8,672,328 (GRCm39) probably null Het
Eif3e A G 15: 43,129,540 (GRCm39) I196T probably damaging Het
Ercc4 T A 16: 12,927,903 (GRCm39) C24* probably null Het
Fmn1 A G 2: 113,194,648 (GRCm39) E116G unknown Het
Grin2a C A 16: 9,397,404 (GRCm39) M894I probably benign Het
Herc2 G T 7: 55,878,253 (GRCm39) S4566I probably benign Het
Hmcn1 G A 1: 150,631,044 (GRCm39) P918L probably damaging Het
Hmcn1 G T 1: 150,631,045 (GRCm39) P918T probably damaging Het
Hsd3b2 T A 3: 98,619,372 (GRCm39) Y191F possibly damaging Het
Ifit1bl2 A C 19: 34,597,217 (GRCm39) F133C possibly damaging Het
Itih2 T C 2: 10,113,705 (GRCm39) probably benign Het
Itsn1 T C 16: 91,649,899 (GRCm39) L191P probably benign Het
Kdr T C 5: 76,105,026 (GRCm39) K1068R probably damaging Het
Lmtk2 T C 5: 144,119,574 (GRCm39) L1345P probably damaging Het
Man2b2 T A 5: 36,966,385 (GRCm39) D936V probably damaging Het
Mapk1ip1 G A 7: 138,438,317 (GRCm39) R38* probably null Het
Med13l T C 5: 118,859,551 (GRCm39) V246A possibly damaging Het
Mlec T A 5: 115,286,108 (GRCm39) T248S probably benign Het
Mslnl T A 17: 25,956,876 (GRCm39) V54D possibly damaging Het
Muc16 G A 9: 18,568,508 (GRCm39) T1337I unknown Het
Nek7 C T 1: 138,443,392 (GRCm39) S187N probably damaging Het
Neto2 A G 8: 86,367,214 (GRCm39) V538A probably benign Het
Nktr T C 9: 121,579,202 (GRCm39) probably benign Het
Npy6r A G 18: 44,409,559 (GRCm39) K327E probably damaging Het
Or2ag1 A G 7: 106,472,789 (GRCm39) I221T probably damaging Het
Or3a1c A G 11: 74,046,396 (GRCm39) M139V possibly damaging Het
Or4a72 T C 2: 89,406,016 (GRCm39) D18G probably benign Het
Or4c123 T A 2: 89,127,368 (GRCm39) D82V probably damaging Het
Or5b109 A T 19: 13,211,889 (GRCm39) I92F probably benign Het
Pcdhga4 A T 18: 37,820,478 (GRCm39) N676Y probably damaging Het
Pde2a T C 7: 101,152,086 (GRCm39) I331T possibly damaging Het
Pip5k1b A T 19: 24,281,399 (GRCm39) Y486* probably null Het
Plch2 A G 4: 155,085,275 (GRCm39) M272T probably benign Het
Rbm12 G A 2: 155,939,646 (GRCm39) probably benign Het
Rgs19 T C 2: 181,331,300 (GRCm39) E111G probably damaging Het
Rhbdf1 T C 11: 32,160,066 (GRCm39) N145S probably damaging Het
Rnf4 T A 5: 34,508,565 (GRCm39) probably null Het
Rpa1 T C 11: 75,205,737 (GRCm39) T207A probably damaging Het
Rufy4 A C 1: 74,168,556 (GRCm39) Q113P probably damaging Het
Sh3pxd2b T G 11: 32,372,985 (GRCm39) S717R probably benign Het
Sin3a A T 9: 57,014,824 (GRCm39) I682F probably damaging Het
Sipa1l2 A T 8: 126,195,212 (GRCm39) V842E possibly damaging Het
Slc5a4a A G 10: 75,983,431 (GRCm39) I23V unknown Het
Slitrk5 A G 14: 111,919,157 (GRCm39) N927S probably benign Het
Smc6 A G 12: 11,326,354 (GRCm39) K117R possibly damaging Het
Sod2 G A 17: 13,226,918 (GRCm39) probably benign Het
Stxbp1 A G 2: 32,686,030 (GRCm39) I567T possibly damaging Het
Tbkbp1 C A 11: 97,038,206 (GRCm39) L209F probably damaging Het
Tll1 G T 8: 64,491,620 (GRCm39) probably null Het
Tmem38b T C 4: 53,840,765 (GRCm39) L60S probably damaging Het
Trib1 G A 15: 59,526,324 (GRCm39) R298H probably damaging Het
Trim30b A G 7: 104,015,349 (GRCm39) V13A probably damaging Het
Trip11 G A 12: 101,856,001 (GRCm39) T425I probably benign Het
Ttn C A 2: 76,720,317 (GRCm39) probably benign Het
Tymp GC GCC 15: 89,258,567 (GRCm39) probably null Het
Ush2a T A 1: 187,999,220 (GRCm39) S177T probably damaging Het
Usp40 A T 1: 87,906,281 (GRCm39) S651R probably benign Het
Vmn1r125 T C 7: 21,006,644 (GRCm39) S181P probably damaging Het
Vmn1r198 T A 13: 22,538,928 (GRCm39) V138D possibly damaging Het
Vmn1r56 A G 7: 5,199,317 (GRCm39) L100P probably damaging Het
Vmn2r32 T A 7: 7,467,209 (GRCm39) D773V probably benign Het
Vmn2r53 A C 7: 12,315,808 (GRCm39) H670Q probably benign Het
Vmn2r69 A T 7: 85,055,711 (GRCm39) I809N probably damaging Het
Wdr7 G A 18: 63,861,540 (GRCm39) G184D probably damaging Het
Wnk1 C T 6: 120,014,562 (GRCm39) G11D probably damaging Het
Zfp110 A C 7: 12,578,602 (GRCm39) E171A possibly damaging Het
Zkscan6 T C 11: 65,706,757 (GRCm39) V134A probably 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
IGL02559:Gnas APN 2 174,183,729 (GRCm39) splice site probably benign
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
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
Predicted Primers PCR Primer
(F):5'- TGACAGACTTCACCAGCAAG -3'
(R):5'- ACGGGCTCATTGTTAGACGG -3'

Posted On 2017-07-14