Mutagenetix > Incidental Mutation

Incidental Mutation 'R9660:Gna11'

727535

Institutional Source

Beutler Lab

Gene Symbol

Gna11

Ensembl Gene

ENSMUSG00000034781

Gene Name

guanine nucleotide binding protein, alpha 11

Synonyms

Dsk7

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9660 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

81364558-81380996 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 81370918 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 106 (N106S)

Ref Sequence

ENSEMBL: ENSMUSP00000043190 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043604]

AlphaFold

P21278

Predicted Effect

probably benign
Transcript: ENSMUST00000043604
AA Change: N106S

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000043190
Gene: ENSMUSG00000034781
AA Change: N106S

Domain	Start	End	E-Value	Type
G_alpha	19	358	3.09e-208	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	G	7: 119,851,478 (GRCm39)	M819V	probably benign	Het
Abca5	T	A	11: 110,168,248 (GRCm39)	T1461S	possibly damaging	Het
Actl6b	C	T	5: 137,562,766 (GRCm39)	R161C	probably damaging	Het
Aoc3	C	G	11: 101,221,914 (GRCm39)	P50R	possibly damaging	Het
Atr	G	A	9: 95,797,050 (GRCm39)	A1698T	probably benign	Het
Caml	T	A	13: 55,779,670 (GRCm39)	S248T	possibly damaging	Het
Cdh11	C	T	8: 103,384,879 (GRCm39)	G399S	possibly damaging	Het
Chrna10	G	T	7: 101,761,416 (GRCm39)	L392I	probably benign	Het
Clip2	C	T	5: 134,533,616 (GRCm39)	R487Q	probably benign	Het
Copg1	A	G	6: 87,879,225 (GRCm39)	I424V	probably damaging	Het
Cwh43	A	T	5: 73,565,629 (GRCm39)	N65Y	possibly damaging	Het
Defb1	A	G	8: 22,284,486 (GRCm39)	Y35C	probably damaging	Het
Disp2	T	C	2: 118,620,627 (GRCm39)	V453A	probably benign	Het
Dpp9	A	G	17: 56,494,458 (GRCm39)	Y834H	probably damaging	Het
Emsy	A	G	7: 98,262,285 (GRCm39)	I598T	possibly damaging	Het
Entpd2	C	T	2: 25,288,153 (GRCm39)	R126C	probably damaging	Het
Fbxl17	A	T	17: 63,806,426 (GRCm39)	M196K	probably benign	Het
Gcc1	T	C	6: 28,420,544 (GRCm39)	R258G	probably damaging	Het
Gga2	A	T	7: 121,606,494 (GRCm39)	M157K	possibly damaging	Het
Gtf3c1	A	C	7: 125,262,199 (GRCm39)	S1116A	possibly damaging	Het
Gucy2d	C	A	7: 98,099,064 (GRCm39)	D294E	probably damaging	Het
Igkv12-46	G	T	6: 69,741,967 (GRCm39)	P4T	possibly damaging	Het
Iqcf5	A	T	9: 106,393,168 (GRCm39)	I142L	probably damaging	Het
Klhdc9	A	G	1: 171,187,357 (GRCm39)	S214P	probably damaging	Het
Kmt2e	T	C	5: 23,683,617 (GRCm39)	Y292H	probably damaging	Het
Lgr6	A	G	1: 134,915,245 (GRCm39)	L778P	probably damaging	Het
Lrrk2	A	G	15: 91,618,228 (GRCm39)	N909S	probably benign	Het
Ly75	A	G	2: 60,154,184 (GRCm39)	S1088P	probably damaging	Het
Mei1	G	A	15: 81,966,098 (GRCm39)	G240D		Het
Miox	A	T	15: 89,218,703 (GRCm39)		probably benign	Het
Myo1e	A	G	9: 70,223,924 (GRCm39)	Y128C	probably damaging	Het
Necab2	T	C	8: 120,189,403 (GRCm39)	V191A	possibly damaging	Het
Nlrp9a	T	A	7: 26,256,915 (GRCm39)	Y178N	probably damaging	Het
Nr4a3	A	G	4: 48,051,353 (GRCm39)	T36A	probably benign	Het
Nup210l	A	G	3: 90,105,402 (GRCm39)	T1517A	probably benign	Het
Nup210l	C	T	3: 90,107,173 (GRCm39)	P1570L	probably benign	Het
Or4a27	T	C	2: 88,559,142 (GRCm39)	K267R	probably damaging	Het
Or4g17	T	G	2: 111,210,239 (GRCm39)	I298R	probably damaging	Het
Or4p23	T	C	2: 88,576,872 (GRCm39)	Y120C	probably damaging	Het
Or51h7	C	T	7: 102,591,259 (GRCm39)	C175Y	probably damaging	Het
Pcnx2	A	T	8: 126,487,592 (GRCm39)	S1804T	probably damaging	Het
Pdcd11	T	A	19: 47,082,191 (GRCm39)	V35D	possibly damaging	Het
Pde10a	C	A	17: 9,170,370 (GRCm39)	T347K	probably damaging	Het
Rcc1l	A	G	5: 134,182,977 (GRCm39)	Y432H	probably benign	Het
Rgs22	A	T	15: 36,040,856 (GRCm39)	V1001E	probably benign	Het
Ripor3	T	A	2: 167,831,646 (GRCm39)	D385V	probably damaging	Het
Rrbp1	T	C	2: 143,831,178 (GRCm39)	K330E	probably damaging	Het
Ryr3	T	G	2: 112,664,074 (GRCm39)	D1759A	probably benign	Het
Scube3	A	G	17: 28,371,414 (GRCm39)	D43G	probably benign	Het
Sec24b	A	G	3: 129,790,422 (GRCm39)	I701T	probably damaging	Het
Setd5	G	T	6: 113,128,366 (GRCm39)	V1440L	probably benign	Het
Sik3	A	G	9: 46,106,142 (GRCm39)	K337E	possibly damaging	Het
Slc14a1	C	A	18: 78,152,807 (GRCm39)	A367S	probably damaging	Het
Slc1a6	T	A	10: 78,648,698 (GRCm39)	M473K	probably benign	Het
Spag16	A	G	1: 69,962,842 (GRCm39)	R330G	probably benign	Het
Spag6	C	A	2: 18,704,047 (GRCm39)	Q32K	probably benign	Het
Sspo	G	A	6: 48,432,707 (GRCm39)	G861D	probably damaging	Het
Togaram2	T	A	17: 72,024,365 (GRCm39)	S850T	probably damaging	Het
Trbv15	A	T	6: 41,118,550 (GRCm39)	E102V	possibly damaging	Het
Trim43b	G	T	9: 88,973,395 (GRCm39)	H113N	probably benign	Het
Trpm2	T	A	10: 77,766,389 (GRCm39)	I877L	probably benign	Het
Ttn	T	C	2: 76,599,152 (GRCm39)	I19286V	probably benign	Het
Ttn	C	T	2: 76,715,357 (GRCm39)	E7912K	unknown	Het
Tubb6	A	G	18: 67,534,671 (GRCm39)	H190R	probably benign	Het
Vmn1r214	T	C	13: 23,219,007 (GRCm39)	V167A	probably benign	Het
Vwf	C	A	6: 125,568,670 (GRCm39)	L398I	possibly damaging	Het
Zfp9	G	T	6: 118,443,851 (GRCm39)	A58E	probably benign	Het

Other mutations in Gna11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

Predicted Primers

PCR Primer
(F):5'- GGTGATACTGACAACCCACAG -3'
(R):5'- GCATAGTGCCTCACAGTAGG -3'

Sequencing Primer
(F):5'- GGAGGTCCCTTTCACAGAC -3'
(R):5'- CACGTGGTGACTGGTCAAG -3'

Posted On

2022-10-06