Mutagenetix > Incidental Mutation

Incidental Mutation 'R7006:Gpsm1'

544699

Institutional Source

Beutler Lab

Gene Symbol

Gpsm1

Ensembl Gene

ENSMUSG00000026930

Gene Name

G-protein signalling modulator 1 (AGS3-like, C. elegans)

Synonyms

Ags3, 1810037C22Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7006 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

26315515-26348237 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 26322560 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 72 (L72P)

Ref Sequence

ENSEMBL: ENSMUSP00000077686 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066889] [ENSMUST00000066936] [ENSMUST00000078616]

AlphaFold

Q6IR34

Predicted Effect

probably damaging
Transcript: ENSMUST00000066889
AA Change: L104P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000067964
Gene: ENSMUSG00000026930
AA Change: L104P

Domain	Start	End	E-Value	Type
low complexity region	28	43	N/A	INTRINSIC
TPR	98	131	1.45e-1	SMART
TPR	138	171	7.06e-5	SMART
TPR	238	271	5.96e-3	SMART
TPR	278	311	1.47e-2	SMART
TPR	318	351	5.19e-3	SMART
TPR	358	391	1.33e0	SMART
GoLoco	525	547	7.38e-9	SMART
low complexity region	548	560	N/A	INTRINSIC
GoLoco	578	600	4.24e-9	SMART
GoLoco	626	648	5.22e-9	SMART
GoLoco	660	682	3.58e-7	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000066936
AA Change: L72P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000065000
Gene: ENSMUSG00000026930
AA Change: L72P

Domain	Start	End	E-Value	Type
TPR	66	99	1.45e-1	SMART
TPR	106	139	7.06e-5	SMART
TPR	206	239	5.96e-3	SMART
TPR	246	279	1.47e-2	SMART
TPR	286	319	5.19e-3	SMART
TPR	326	359	1.33e0	SMART
GoLoco	493	515	7.38e-9	SMART
low complexity region	516	528	N/A	INTRINSIC
GoLoco	546	568	4.24e-9	SMART
GoLoco	594	616	5.22e-9	SMART
GoLoco	628	650	3.58e-7	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000078616
AA Change: L72P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000077686
Gene: ENSMUSG00000026930
AA Change: L72P

Domain	Start	End	E-Value	Type
TPR	66	99	1.45e-1	SMART
TPR	106	139	7.06e-5	SMART
TPR	206	239	5.96e-3	SMART
TPR	246	279	1.47e-2	SMART
TPR	286	319	5.19e-3	SMART
TPR	326	359	1.33e0	SMART
GoLoco	433	455	7.38e-9	SMART
low complexity region	456	468	N/A	INTRINSIC
GoLoco	486	508	4.24e-9	SMART
GoLoco	534	556	5.22e-9	SMART
GoLoco	568	590	3.58e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000145884

SMART Domains

Protein: ENSMUSP00000115680
Gene: ENSMUSG00000026930

Domain	Start	End	E-Value	Type
Blast:TPR	22	68	1e-9	BLAST
Pfam:TPR_1	82	107	2.3e-4	PFAM
Pfam:TPR_12	82	147	7.9e-12	PFAM
Pfam:TPR_7	84	119	1.4e-5	PFAM
Pfam:TPR_2	122	147	6.2e-4	PFAM
Pfam:TPR_8	123	146	1.4e-2	PFAM
Blast:TPR	150	183	4e-15	BLAST
GoLoco	317	339	7.38e-9	SMART
low complexity region	340	352	N/A	INTRINSIC
GoLoco	370	392	4.24e-9	SMART
GoLoco	418	440	5.22e-9	SMART
GoLoco	452	474	3.58e-7	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] G-protein signaling modulators (GPSMs) play diverse functional roles through their interaction with G-protein subunits. This gene encodes a receptor-independent activator of G protein signaling, which is one of several factors that influence the basal activity of G-protein signaling systems. The protein contains seven tetratricopeptide repeats in its N-terminal half and four G-protein regulatory (GPR) motifs in its C-terminal half. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit a lean phenotype, reduced fat mass, increased food consumption, increased nocturnal energy expenditure and altered blood pressure control mechanisms; surprisingly, their basal behavior and gross brain morphology remain normal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy2	G	A	13: 68,888,020	T174M	probably damaging	Het
Ankfy1	T	A	11: 72,740,464	I412N	probably benign	Het
AW146154	T	C	7: 41,481,224	E156G	possibly damaging	Het
B4galnt1	T	C	10: 127,169,831	L267P	probably benign	Het
Bod1l	T	C	5: 41,832,552	E276G	probably damaging	Het
Ccdc187	T	C	2: 26,281,090	T459A	probably benign	Het
Cep72	G	A	13: 74,050,308	Q311*	probably null	Het
Cir1	T	C	2: 73,310,490	Q45R	probably damaging	Het
Ciz1	T	C	2: 32,371,115		probably null	Het
Crtap	G	T	9: 114,386,323	A166E	probably damaging	Het
Dmp1	A	G	5: 104,212,322	D288G	probably benign	Het
Dusp27	T	C	1: 166,099,094	N983S	probably benign	Het
Fam69a	A	G	5: 107,910,161	V132A	probably benign	Het
Fhad1	CGG	CG	4: 141,918,291		probably null	Het
Fmnl2	C	A	2: 53,108,254	Q544K	probably benign	Het
Gm13178	A	G	4: 144,721,283	V41A	probably benign	Het
Gm6657	T	A	12: 78,208,928	*177R	probably null	Het
Gys1	G	A	7: 45,440,013	A199T	probably damaging	Het
Kcnq3	A	C	15: 66,020,316	Y403*	probably null	Het
Kcp	A	C	6: 29,499,170	Y298D	probably damaging	Het
Kif5c	T	C	2: 49,735,514	S599P	probably damaging	Het
Krt20	A	T	11: 99,437,761	Y113N	probably benign	Het
Mcm8	T	G	2: 132,823,261	V191G	probably damaging	Het
Msr1	T	A	8: 39,589,382	D384V	probably damaging	Het
Mtpap	A	C	18: 4,380,873	S184R	possibly damaging	Het
Npc1l1	G	A	11: 6,217,731	T1020M	probably benign	Het
Nphp4	A	G	4: 152,488,802	T66A	probably benign	Het
Olfr1049	T	A	2: 86,255,228	Q155L	probably benign	Het
Olfr1100	G	A	2: 86,977,959	T279I	probably damaging	Het
Olfr1306	C	A	2: 111,912,256	V225L	probably benign	Het
Olfr98	T	A	17: 37,262,734	*310L	probably null	Het
Phf11d	G	T	14: 59,353,374	T178K	probably benign	Het
Ppm1d	A	G	11: 85,337,151	K298E	possibly damaging	Het
Rab2b	A	T	14: 52,266,233	I144K	probably benign	Het
Stoml1	A	G	9: 58,260,240	D5G	probably damaging	Het
Tanc1	T	C	2: 59,795,844	V515A	probably damaging	Het
Tas1r3	A	G	4: 155,862,904	V108A	possibly damaging	Het
Tcrg-C4	T	A	13: 19,344,825		probably benign	Het
Tifab	T	C	13: 56,176,246	Y128C	probably benign	Het
Tmc6	G	T	11: 117,774,257	R397S	probably damaging	Het
Tnpo3	C	T	6: 29,589,163	A63T	probably damaging	Het
Usp16	G	T	16: 87,471,836	C284F	probably damaging	Het
Wipf1	T	C	2: 73,437,097	D319G	probably damaging	Het
Xpnpep3	T	A	15: 81,442,448	W347R	probably damaging	Het
Zfp180	G	T	7: 24,105,112	E319*	probably null	Het

Other mutations in Gpsm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01803:Gpsm1	APN	2	26346909	missense	probably damaging	1.00
IGL01826:Gpsm1	APN	2	26326302	missense	probably damaging	0.98
IGL02281:Gpsm1	APN	2	26339626	splice site	probably benign
IGL02730:Gpsm1	APN	2	26325378	missense	probably benign	0.13
IGL02740:Gpsm1	APN	2	26340573	missense	probably benign	0.43
IGL02749:Gpsm1	APN	2	26339675	missense	probably damaging	0.99
IGL02982:Gpsm1	APN	2	26324859	missense	probably damaging	1.00
R1271:Gpsm1	UTSW	2	26344672	missense	probably damaging	0.99
R1639:Gpsm1	UTSW	2	26345187	missense	probably damaging	1.00
R1766:Gpsm1	UTSW	2	26325383	missense	probably damaging	1.00
R1854:Gpsm1	UTSW	2	26344713	missense	probably damaging	1.00
R2900:Gpsm1	UTSW	2	26345162	missense	probably benign	0.00
R2994:Gpsm1	UTSW	2	26319831	unclassified	probably benign
R2995:Gpsm1	UTSW	2	26319831	unclassified	probably benign
R2996:Gpsm1	UTSW	2	26319831	unclassified	probably benign
R4227:Gpsm1	UTSW	2	26339626	splice site	probably benign
R4391:Gpsm1	UTSW	2	26323997	missense	probably damaging	1.00
R4413:Gpsm1	UTSW	2	26319831	unclassified	probably benign
R4461:Gpsm1	UTSW	2	26319831	unclassified	probably benign
R4469:Gpsm1	UTSW	2	26319831	unclassified	probably benign
R4659:Gpsm1	UTSW	2	26319831	unclassified	probably benign
R4786:Gpsm1	UTSW	2	26322481	missense	probably benign	0.01
R5025:Gpsm1	UTSW	2	26319996	missense	possibly damaging	0.90
R5057:Gpsm1	UTSW	2	26325357	missense	probably damaging	0.96
R5171:Gpsm1	UTSW	2	26327464	intron	probably benign
R5356:Gpsm1	UTSW	2	26340562	missense	possibly damaging	0.73
R5417:Gpsm1	UTSW	2	26324033	critical splice donor site	probably null
R5967:Gpsm1	UTSW	2	26340534	splice site	probably null
R6153:Gpsm1	UTSW	2	26325413	missense	probably benign	0.14
R6969:Gpsm1	UTSW	2	26340543	missense	probably benign	0.01
R7819:Gpsm1	UTSW	2	26339693	missense	probably damaging	0.98
R7867:Gpsm1	UTSW	2	26340436	missense	probably benign	0.38
R8194:Gpsm1	UTSW	2	26327352	frame shift	probably null
R8195:Gpsm1	UTSW	2	26324917	splice site	probably null
R8857:Gpsm1	UTSW	2	26340445	missense	possibly damaging	0.47
R9267:Gpsm1	UTSW	2	26346823	missense	probably damaging	1.00
R9281:Gpsm1	UTSW	2	26324476	missense	probably damaging	0.99
RF017:Gpsm1	UTSW	2	26324872	missense	probably damaging	1.00
Z1176:Gpsm1	UTSW	2	26327345	missense	possibly damaging	0.69

Predicted Primers

PCR Primer
(F):5'- CTGAGGGACATCGTCTCATTGC -3'
(R):5'- TCTCCAGGCACAGATACACCTG -3'

Sequencing Primer
(F):5'- TTGCAACCATAGAGTGTGCC -3'
(R):5'- GGCACAGATACACCTGTTGCATC -3'

Posted On

2019-05-13