Incidental Mutation 'R9431:Gnas'
ID 712942
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
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9431 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 174126113-174188537 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 174139826 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 58 (S58P)
Ref Sequence ENSEMBL: ENSMUSP00000079341 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080493] [ENSMUST00000087876] [ENSMUST00000087877] [ENSMUST00000109088] [ENSMUST00000109095] [ENSMUST00000109096] [ENSMUST00000130761] [ENSMUST00000130940] [ENSMUST00000180362] [ENSMUST00000185956] [ENSMUST00000186907]
AlphaFold Q6R0H7
Predicted Effect unknown
Transcript: ENSMUST00000080493
AA Change: S58P
SMART Domains Protein: ENSMUSP00000079341
Gene: ENSMUSG00000027523
AA Change: S58P

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 unknown
Transcript: ENSMUST00000087876
AA Change: S58P
SMART Domains Protein: ENSMUSP00000085184
Gene: ENSMUSG00000027523
AA Change: S58P

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 unknown
Transcript: ENSMUST00000087877
AA Change: S58P
SMART Domains Protein: ENSMUSP00000085185
Gene: ENSMUSG00000027523
AA Change: S58P

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 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
Predicted Effect unknown
Transcript: ENSMUST00000185956
AA Change: S58P
SMART Domains Protein: ENSMUSP00000140174
Gene: ENSMUSG00000027523
AA Change: S58P

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik A C 5: 88,120,325 (GRCm39) I361L possibly damaging Het
Aebp2 C T 6: 140,592,594 (GRCm39) P446L probably damaging Het
Arhgap32 C A 9: 32,170,463 (GRCm39) A1081D probably damaging Het
Btbd16 C T 7: 130,417,516 (GRCm39) R344C probably damaging Het
Cdc73 T A 1: 143,545,740 (GRCm39) K299* probably null Het
Cpq C T 15: 33,250,078 (GRCm39) T145I probably benign Het
Creb1 C A 1: 64,615,413 (GRCm39) A215E probably damaging Het
D630045J12Rik G T 6: 38,173,814 (GRCm39) A118E probably benign Het
Dnah7a A T 1: 53,450,812 (GRCm39) F3873I possibly damaging Het
Dock10 T C 1: 80,583,593 (GRCm39) Y203C probably damaging Het
Evi5 A G 5: 107,990,150 (GRCm39) V23A probably damaging Het
Fat2 T C 11: 55,142,838 (GRCm39) D4337G probably damaging Het
Fbxl17 G A 17: 63,387,489 (GRCm39) T631I probably damaging Het
Fktn G A 4: 53,734,854 (GRCm39) G125D probably benign Het
Focad A G 4: 88,321,583 (GRCm39) M1559V unknown Het
Fras1 A T 5: 96,900,873 (GRCm39) I3031L possibly damaging Het
Hdac9 G A 12: 34,440,327 (GRCm39) Q351* probably null Het
Ibsp A T 5: 104,457,167 (GRCm39) N92I probably damaging Het
Kank1 C A 19: 25,387,866 (GRCm39) T513N probably damaging Het
Kcnh1 A G 1: 192,101,123 (GRCm39) T599A probably benign Het
Kdm5a T A 6: 120,392,253 (GRCm39) L992M probably damaging Het
Lipc T C 9: 70,723,889 (GRCm39) Y245C probably damaging Het
Mdfic2 T C 6: 98,215,164 (GRCm39) H153R probably benign Het
Morc3 C A 16: 93,667,771 (GRCm39) Y716* probably null Het
Mroh2b A T 15: 4,963,952 (GRCm39) D848V probably damaging Het
Or13c7e-ps1 A C 4: 43,781,682 (GRCm39) I216S possibly damaging Het
Or2d2b T A 7: 106,705,336 (GRCm39) H244L probably damaging Het
Or2y1b A G 11: 49,208,459 (GRCm39) I29V probably benign Het
Or5h27 A G 16: 59,006,090 (GRCm39) V252A unknown Het
Or6ae1 T A 7: 139,741,942 (GRCm39) Q307L probably benign Het
Patl1 A G 19: 11,898,815 (GRCm39) E170G probably damaging Het
Rad17 A G 13: 100,780,074 (GRCm39) V112A probably damaging Het
Rigi A G 4: 40,229,545 (GRCm39) S125P probably benign Het
Sertad2 A T 11: 20,598,425 (GRCm39) E207V probably benign Het
Slc12a5 T C 2: 164,832,178 (GRCm39) V699A possibly damaging Het
Slc13a4 A G 6: 35,278,742 (GRCm39) V49A probably damaging Het
Slc22a6 A G 19: 8,598,596 (GRCm39) T218A probably benign Het
Slc30a9 A G 5: 67,505,278 (GRCm39) D422G probably damaging Het
Slc37a3 T C 6: 39,324,363 (GRCm39) Y295C possibly damaging Het
Slc39a8 T C 3: 135,563,923 (GRCm39) V256A probably benign Het
Slc45a2 G A 15: 11,026,005 (GRCm39) E452K possibly damaging Het
Slc4a11 C T 2: 130,533,664 (GRCm39) A100T probably damaging Het
Slc7a12 G A 3: 14,546,035 (GRCm39) C60Y probably damaging Het
St8sia3 T A 18: 64,398,640 (GRCm39) L33Q probably damaging Het
Tiam1 A G 16: 89,594,918 (GRCm39) probably null Het
Trim37 T A 11: 87,077,257 (GRCm39) V529E probably benign Het
Trpv3 A T 11: 73,178,225 (GRCm39) T431S probably benign Het
Tsc22d1 TCAGCAGCAGCAGCAGCAGCAGCAGCA TCAGCAGCAGCAGCAGCAGCAGCA 14: 76,654,707 (GRCm39) probably benign Het
Ttn C T 2: 76,544,679 (GRCm39) V32808M probably damaging Het
Vmn2r27 T C 6: 124,168,856 (GRCm39) Y758C probably damaging Het
Vwa5b2 C T 16: 20,423,046 (GRCm39) P1015S probably benign Het
Whamm A G 7: 81,236,035 (GRCm39) R413G probably damaging Het
Zbtb41 C T 1: 139,350,781 (GRCm39) probably benign Het
Zfp119b A G 17: 56,246,536 (GRCm39) S217P 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
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
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
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'- ATGTTCAACTGCCTCCACG -3'
(R):5'- CAAAATCGCTGGGTTGAAGG -3'

Sequencing Primer
(F):5'- TCCACGGCAATAATATGTCAGG -3'
(R):5'- TGGGCCAGAAATCTCCCAG -3'
Posted On 2022-05-16