Incidental Mutation 'R0057:Gna11'
ID 16859
Institutional Source Beutler Lab
Gene Symbol Gna11
Ensembl Gene ENSMUSG00000034781
Gene Name guanine nucleotide binding protein, alpha 11
Synonyms Dsk7
MMRRC Submission 038351-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0057 (G1)
Quality Score
Status Validated
Chromosome 10
Chromosomal Location 81364558-81380996 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 81366774 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 312 (M312T)
Ref Sequence ENSEMBL: ENSMUSP00000043190 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043604]
AlphaFold P21278
Predicted Effect probably benign
Transcript: ENSMUST00000043604
AA Change: M312T

PolyPhen 2 Score 0.191 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000043190
Gene: ENSMUSG00000034781
AA Change: M312T

DomainStartEndE-ValueType
G_alpha 19 358 3.09e-208 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134354
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146984
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218454
Meta Mutation Damage Score 0.1652 question?
Coding Region Coverage
  • 1x: 90.1%
  • 3x: 87.8%
  • 10x: 82.7%
  • 20x: 75.7%
Validation Efficiency 89% (65/73)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the family of guanine nucleotide-binding proteins (G proteins), which function as modulators or transducers in various transmembrane signaling systems. G proteins are composed of 3 units: alpha, beta and gamma. This gene encodes one of the alpha subunits (subunit alpha-11). Mutations in this gene have been associated with hypocalciuric hypercalcemia type II (HHC2) and hypocalcemia dominant 2 (HYPOC2). Patients with HHC2 and HYPOC2 exhibit decreased or increased sensitivity, respectively, to changes in extracellular calcium concentrations. [provided by RefSeq, Dec 2013]
PHENOTYPE: Mice deficient for this gene do not exhibit any detectable abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b A T 11: 109,832,385 (GRCm39) F1309L possibly damaging Het
Abcc6 C T 7: 45,669,567 (GRCm39) A163T probably benign Het
Adam23 T A 1: 63,610,078 (GRCm39) H693Q probably damaging Het
Afg3l2 A G 18: 67,556,156 (GRCm39) F392L probably damaging Het
Ak9 A T 10: 41,268,724 (GRCm39) T1055S probably benign Het
Ap5z1 T C 5: 142,456,144 (GRCm39) probably benign Het
Arhgef10l A G 4: 140,338,529 (GRCm39) probably benign Het
Bloc1s6 T A 2: 122,586,141 (GRCm39) probably benign Het
Caskin1 A G 17: 24,723,870 (GRCm39) N886S probably damaging Het
Celsr1 A C 15: 85,914,963 (GRCm39) S1003R probably benign Het
Ctse G T 1: 131,591,109 (GRCm39) D97Y probably damaging Het
Cux1 T A 5: 136,285,136 (GRCm39) I505F probably damaging Het
Dcaf11 T C 14: 55,806,767 (GRCm39) V490A probably benign Het
Dscam A C 16: 96,474,936 (GRCm39) W1209G probably damaging Het
Emc8 A G 8: 121,385,822 (GRCm39) probably benign Het
Entpd6 A G 2: 150,600,748 (GRCm39) K152R probably null Het
Eps8l2 C T 7: 140,922,884 (GRCm39) T49I probably benign Het
Fcsk C T 8: 111,620,400 (GRCm39) probably benign Het
Gm12251 C A 11: 58,283,867 (GRCm39) probably benign Het
Hacd2 T A 16: 34,895,997 (GRCm39) V105D probably damaging Het
Il17a T A 1: 20,803,881 (GRCm39) I92N probably damaging Het
Ino80 G A 2: 119,213,441 (GRCm39) R1249C probably damaging Het
Irak4 A C 15: 94,451,753 (GRCm39) R115S probably benign Het
Jarid2 C T 13: 45,038,332 (GRCm39) H77Y probably damaging Het
Kcnk6 A T 7: 28,925,088 (GRCm39) L176Q probably damaging Het
Kmt2b A T 7: 30,276,217 (GRCm39) probably benign Het
Kremen2 A C 17: 23,962,202 (GRCm39) I210S possibly damaging Het
Ldah T C 12: 8,288,432 (GRCm39) probably benign Het
Lgals9 A T 11: 78,862,262 (GRCm39) probably benign Het
Mfsd13a C T 19: 46,354,943 (GRCm39) T40I probably benign Het
Mfsd4b4 T A 10: 39,891,097 (GRCm38) probably benign Het
Msh4 C T 3: 153,575,318 (GRCm39) A686T probably benign Het
Mycbp2 T C 14: 103,389,578 (GRCm39) N3411D probably damaging Het
Myt1l A G 12: 29,892,611 (GRCm39) probably null Het
Nmbr A G 10: 14,636,268 (GRCm39) N79S probably damaging Het
Npsr1 A T 9: 24,211,723 (GRCm39) I84F probably damaging Het
Or52h1 G T 7: 103,829,536 (GRCm39) H26Q probably benign Het
Or5m10b C A 2: 85,699,597 (GRCm39) Y220* probably null Het
Or6z5 T C 7: 6,477,679 (GRCm39) L190P probably damaging Het
Prlr A G 15: 10,328,509 (GRCm39) Y328C probably damaging Het
Rasal3 A G 17: 32,610,357 (GRCm39) S977P probably benign Het
Ros1 C T 10: 52,056,287 (GRCm39) V68I probably benign Het
Shmt2 G A 10: 127,356,917 (GRCm39) T31M possibly damaging Het
Snapc1 C T 12: 74,021,806 (GRCm39) R81C probably damaging Het
Snrnp200 C G 2: 127,079,827 (GRCm39) L1899V probably damaging Het
Snrnp48 T A 13: 38,400,356 (GRCm39) C154* probably null Het
Tdrd6 G A 17: 43,928,052 (GRCm39) probably benign Het
Tmem175 C T 5: 108,787,428 (GRCm39) H92Y probably damaging Het
Tom1l1 G A 11: 90,575,975 (GRCm39) probably benign Het
Top3a C T 11: 60,631,510 (GRCm39) A951T probably benign Het
Tram2 C T 1: 21,076,378 (GRCm39) R184Q probably damaging Het
Trpc4ap T C 2: 155,482,406 (GRCm39) E528G possibly damaging Het
Vwa7 G A 17: 35,243,523 (GRCm39) S710N possibly damaging Het
Zfa-ps A T 10: 52,421,202 (GRCm39) noncoding transcript Het
Zfp770 T A 2: 114,027,713 (GRCm39) R119* probably null Het
Other mutations in Gna11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01128:Gna11 APN 10 81,366,718 (GRCm39) missense probably damaging 1.00
IGL02972:Gna11 APN 10 81,369,225 (GRCm39) missense probably benign
IGL03290:Gna11 APN 10 81,366,771 (GRCm39) missense probably damaging 1.00
Knapweed UTSW 10 81,366,715 (GRCm39) missense
R0057:Gna11 UTSW 10 81,366,774 (GRCm39) missense probably benign 0.19
R0417:Gna11 UTSW 10 81,366,738 (GRCm39) missense probably damaging 1.00
R1542:Gna11 UTSW 10 81,369,162 (GRCm39) missense probably benign
R1957:Gna11 UTSW 10 81,366,678 (GRCm39) missense probably damaging 1.00
R5180:Gna11 UTSW 10 81,380,707 (GRCm39) missense probably benign 0.01
R5534:Gna11 UTSW 10 81,366,967 (GRCm39) missense probably damaging 1.00
R5967:Gna11 UTSW 10 81,366,643 (GRCm39) missense probably benign 0.11
R6445:Gna11 UTSW 10 81,369,167 (GRCm39) missense probably damaging 1.00
R6523:Gna11 UTSW 10 81,380,688 (GRCm39) missense probably damaging 1.00
R7450:Gna11 UTSW 10 81,368,356 (GRCm39) missense
R7556:Gna11 UTSW 10 81,367,208 (GRCm39) missense
R9076:Gna11 UTSW 10 81,366,715 (GRCm39) missense
R9180:Gna11 UTSW 10 81,370,942 (GRCm39) missense
R9660:Gna11 UTSW 10 81,370,918 (GRCm39) missense probably benign 0.06
Posted On 2013-01-20