Incidental Mutation 'R8459:Gnas'
| ID |
655166 |
| 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 |
067836-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8459 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
174126113-174188537 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 174126732 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 89
(H89L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104723
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109095]
[ENSMUST00000109096]
[ENSMUST00000130761]
[ENSMUST00000130940]
[ENSMUST00000180362]
|
| AlphaFold |
Q6R0H7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109095
AA Change: H89L
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000104723
Gene: ENSMUSG00000027523
AA Change: H89L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NESP55
|
1 |
253 |
1.2e-157 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109096
AA Change: H89L
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000104724
Gene: ENSMUSG00000027523
AA Change: H89L
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NESP55
|
1 |
59 |
1.6e-30 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000180362
AA Change: H89L
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000136180
Gene: ENSMUSG00000027523
AA Change: H89L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NESP55
|
1 |
253 |
1.2e-157 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aim2 |
CTTGTTGT |
CTTGT |
1: 173,289,536 (GRCm39) |
|
probably benign |
Het |
| Ank1 |
T |
C |
8: 23,605,528 (GRCm39) |
V1132A |
probably damaging |
Het |
| Bpifb9a |
T |
G |
2: 154,102,153 (GRCm39) |
S83R |
probably damaging |
Het |
| Cacnb3 |
C |
T |
15: 98,537,393 (GRCm39) |
R24C |
probably damaging |
Het |
| Car8 |
C |
T |
4: 8,189,302 (GRCm39) |
V171I |
probably benign |
Het |
| Cd200l1 |
T |
A |
16: 45,238,271 (GRCm39) |
H294L |
probably benign |
Het |
| Cdk17 |
G |
C |
10: 93,068,289 (GRCm39) |
V349L |
probably damaging |
Het |
| Celsr3 |
A |
G |
9: 108,706,829 (GRCm39) |
E1104G |
probably damaging |
Het |
| Chml |
T |
C |
1: 175,515,597 (GRCm39) |
D108G |
probably benign |
Het |
| Cluap1 |
T |
C |
16: 3,755,453 (GRCm39) |
M356T |
probably damaging |
Het |
| Cmtm1 |
A |
G |
8: 105,036,143 (GRCm39) |
V162A |
possibly damaging |
Het |
| Cryge |
T |
C |
1: 65,087,841 (GRCm39) |
D156G |
possibly damaging |
Het |
| Disc1 |
A |
C |
8: 125,891,894 (GRCm39) |
D649A |
possibly damaging |
Het |
| Dnah8 |
T |
C |
17: 30,944,221 (GRCm39) |
|
probably null |
Het |
| Dpp7 |
C |
A |
2: 25,242,550 (GRCm39) |
V468F |
probably damaging |
Het |
| Ecpas |
A |
G |
4: 58,821,379 (GRCm39) |
V1207A |
probably damaging |
Het |
| Ep400 |
A |
G |
5: 110,856,757 (GRCm39) |
F1163S |
unknown |
Het |
| Fbrs |
C |
T |
7: 127,082,329 (GRCm39) |
R327W |
probably damaging |
Het |
| Fsip2 |
T |
A |
2: 82,810,022 (GRCm39) |
Y2114N |
possibly damaging |
Het |
| Gstt1 |
G |
A |
10: 75,629,943 (GRCm39) |
R107W |
probably damaging |
Het |
| Hal |
A |
G |
10: 93,352,177 (GRCm39) |
D656G |
probably benign |
Het |
| Htra3 |
G |
A |
5: 35,828,569 (GRCm39) |
|
probably benign |
Het |
| Ighv1-64 |
G |
A |
12: 115,471,256 (GRCm39) |
A87V |
probably benign |
Het |
| Itga3 |
A |
G |
11: 94,959,633 (GRCm39) |
V80A |
probably benign |
Het |
| Lrrc58 |
A |
G |
16: 37,698,872 (GRCm39) |
N280D |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,374,107 (GRCm39) |
E1501G |
possibly damaging |
Het |
| Madd |
A |
G |
2: 90,992,871 (GRCm39) |
I1016T |
probably benign |
Het |
| Mbnl1 |
T |
G |
3: 60,529,628 (GRCm39) |
S260R |
probably damaging |
Het |
| Or5h17 |
A |
T |
16: 58,820,348 (GRCm39) |
Q100L |
probably damaging |
Het |
| Phip |
G |
T |
9: 82,758,106 (GRCm39) |
A1529D |
probably benign |
Het |
| Pramel58 |
A |
G |
5: 94,830,742 (GRCm39) |
D80G |
probably damaging |
Het |
| Prorsd1 |
T |
C |
11: 29,463,286 (GRCm39) |
T159A |
probably damaging |
Het |
| Sh3tc1 |
C |
A |
5: 35,878,933 (GRCm39) |
R67L |
probably benign |
Het |
| Skint5 |
A |
T |
4: 113,703,481 (GRCm39) |
L518* |
probably null |
Het |
| Slc26a11 |
T |
A |
11: 119,259,643 (GRCm39) |
I280N |
possibly damaging |
Het |
| Spata16 |
A |
G |
3: 26,721,676 (GRCm39) |
T66A |
probably benign |
Het |
| Syne1 |
G |
A |
10: 5,374,277 (GRCm39) |
R177* |
probably null |
Het |
| Vmn1r16 |
A |
C |
6: 57,300,347 (GRCm39) |
C92G |
probably benign |
Het |
| Vmn1r50 |
A |
G |
6: 90,084,235 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Gnas |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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'- CATAATTACAACGACCTGTGCC -3'
(R):5'- TGACTGGTTGAAGGTGGCAC -3'
Sequencing Primer
(F):5'- ACCTGTGCCCGCCCATAG -3'
(R):5'- TTGAAGGTGGCACCCCGG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation