Mutagenetix > Incidental Mutation

Incidental Mutation 'R0482:Gpsm2'

42015

Institutional Source

Beutler Lab

Gene Symbol

Gpsm2

Ensembl Gene

ENSMUSG00000027883

Gene Name

G-protein signalling modulator 2 (AGS3-like, C. elegans)

Synonyms

6230410J09Rik, LGN, Pins

MMRRC Submission

038682-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.915) question?

Stock #

R0482 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108585954-108629625 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 108609710 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000115759 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029482] [ENSMUST00000145558]

AlphaFold

Q8VDU0

Predicted Effect

probably benign
Transcript: ENSMUST00000029482

SMART Domains

Protein: ENSMUSP00000029482
Gene: ENSMUSG00000027883

Domain	Start	End	E-Value	Type
TPR	62	95	7.86e-3	SMART
TPR	102	135	4.34e-5	SMART
Blast:TPR	142	188	9e-22	BLAST
TPR	202	235	1.69e-2	SMART
TPR	242	275	3.99e-4	SMART
TPR	282	315	1.51e-4	SMART
TPR	322	355	1.04e-2	SMART
GoLoco	490	512	3.69e-9	SMART
low complexity region	518	527	N/A	INTRINSIC
GoLoco	543	565	7.27e-8	SMART
GoLoco	594	616	2.31e-10	SMART
GoLoco	628	650	2.75e-8	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124043

Predicted Effect

probably benign
Transcript: ENSMUST00000145558

SMART Domains

Protein: ENSMUSP00000115759
Gene: ENSMUSG00000027883

Domain	Start	End	E-Value	Type
Blast:TPR	24	57	1e-10	BLAST
Pfam:TPR_8	61	84	1.5e-2	PFAM
Pfam:TPR_10	61	101	3.6e-5	PFAM
Pfam:TPR_1	62	86	7.6e-6	PFAM
Pfam:TPR_2	62	94	2e-5	PFAM
Pfam:TPR_7	64	99	1e-4	PFAM
Pfam:TPR_12	101	154	4.6e-10	PFAM
Pfam:TPR_2	102	134	7e-4	PFAM
Pfam:TPR_1	102	135	2.2e-8	PFAM
Pfam:TPR_8	102	136	5.8e-3	PFAM
Pfam:TPR_7	104	139	4.3e-4	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154263

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.8%
20x: 93.4%

Validation Efficiency

95% (94/99)

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 a family of proteins that modulate activation of G proteins, which transduce extracellular signals received by cell surface receptors into integrated cellular responses. The N-terminal half of this protein contains 10 copies of leu-gly-asn (LGN) repeat, and the C-terminal half contains 4 GoLoco motifs, which are involved in guanine nucleotide exchange. This protein may play a role in neuroblast division and in the development of normal hearing. Mutations in this gene are associated with autosomal recessive nonsyndromic deafness (DFNB82). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
PHENOTYPE: Targeted disruption of this gene randomizes the spindle orientation of normally planar neuroepithelial divisions. The ensuing loss of the apical membrane from daughter cells frequently converts them into abnormally localized progenitors with no apparent effect on neuronal production. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	C	17: 9,207,255 (GRCm39)		probably null	Het
Abca13	G	A	11: 9,278,207 (GRCm39)	G3129D	possibly damaging	Het
Acnat2	T	C	4: 49,383,534 (GRCm39)	I6M	probably benign	Het
Adcy4	T	A	14: 56,012,029 (GRCm39)		probably null	Het
Agrn	A	G	4: 156,258,012 (GRCm39)	S1117P	probably damaging	Het
Anks1b	A	G	10: 90,195,057 (GRCm39)	N545S	probably benign	Het
Antxr1	C	T	6: 87,246,220 (GRCm39)		probably null	Het
Arhgef17	T	C	7: 100,529,828 (GRCm39)	K476E	probably damaging	Het
Bptf	T	C	11: 106,972,088 (GRCm39)	S927G	probably benign	Het
Cacna1s	C	T	1: 136,041,132 (GRCm39)	T1286I	probably benign	Het
Ccdc174	T	A	6: 91,872,247 (GRCm39)	M292K	probably benign	Het
Cdk5rap2	G	A	4: 70,328,506 (GRCm39)		probably benign	Het
Celsr3	T	A	9: 108,706,272 (GRCm39)	Y918*	probably null	Het
Cep250	T	C	2: 155,806,894 (GRCm39)		probably benign	Het
Ces2h	A	G	8: 105,746,903 (GRCm39)	D513G	possibly damaging	Het
Clec2l	A	G	6: 38,640,327 (GRCm39)	T53A	probably benign	Het
Cntnap2	C	T	6: 45,692,750 (GRCm39)	S77L	probably benign	Het
Cped1	A	T	6: 22,016,957 (GRCm39)	H102L	probably benign	Het
Crim1	T	A	17: 78,680,008 (GRCm39)	D916E	probably benign	Het
Csmd1	T	A	8: 16,283,115 (GRCm39)	I614F	probably damaging	Het
Csnk1g1	G	A	9: 65,917,751 (GRCm39)	E37K	probably damaging	Het
Ctnnbl1	T	A	2: 157,713,110 (GRCm39)		probably null	Het
Cuzd1	A	T	7: 130,911,601 (GRCm39)		probably benign	Het
Cyp4f16	T	A	17: 32,769,525 (GRCm39)	V433D	probably damaging	Het
Ddi1	A	G	9: 6,266,144 (GRCm39)	L75P	probably damaging	Het
Ddias	G	A	7: 92,508,736 (GRCm39)	A393V	probably benign	Het
Dgka	A	T	10: 128,569,990 (GRCm39)	Y123*	probably null	Het
Dlgap1	T	C	17: 70,823,185 (GRCm39)	C57R	probably benign	Het
Dysf	T	A	6: 84,129,387 (GRCm39)	V1458D	probably benign	Het
Eif2ak4	T	A	2: 118,292,828 (GRCm39)	Y1230N	probably damaging	Het
Fbxl7	A	T	15: 26,543,632 (GRCm39)	S338R	probably benign	Het
Fgf23	A	T	6: 127,050,122 (GRCm39)	T44S	probably damaging	Het
Fhip1b	G	A	7: 105,033,419 (GRCm39)	P599L	possibly damaging	Het
Folh1	A	T	7: 86,395,309 (GRCm39)		probably benign	Het
H2bc13	A	G	13: 21,900,295 (GRCm39)		probably benign	Het
Hdac2	T	A	10: 36,865,130 (GRCm39)		probably benign	Het
Il31ra	G	T	13: 112,664,015 (GRCm39)	T446N	possibly damaging	Het
Irf5	T	A	6: 29,535,369 (GRCm39)	L199H	probably benign	Het
Kif18a	T	A	2: 109,118,188 (GRCm39)	M1K	probably null	Het
Kif4-ps	A	C	12: 101,114,921 (GRCm39)	I1017L	probably benign	Het
Klhl2	C	T	8: 65,211,164 (GRCm39)	V295M	probably benign	Het
Krt75	A	T	15: 101,478,746 (GRCm39)	M296K	probably benign	Het
Krt81	C	A	15: 101,361,508 (GRCm39)	R24L	possibly damaging	Het
Lgr4	T	C	2: 109,838,437 (GRCm39)	S439P	probably damaging	Het
Lhfpl2	C	A	13: 94,311,118 (GRCm39)	N129K	probably damaging	Het
Lnx2	A	G	5: 146,955,771 (GRCm39)	V675A	probably damaging	Het
Med13	T	C	11: 86,175,977 (GRCm39)	T1673A	probably benign	Het
Mif	A	G	10: 75,695,974 (GRCm39)	V10A	possibly damaging	Het
Mki67	A	T	7: 135,301,158 (GRCm39)	I1292N	possibly damaging	Het
Mylip	C	A	13: 45,558,059 (GRCm39)	N89K	probably benign	Het
Myo19	G	T	11: 84,800,245 (GRCm39)	D877Y	probably benign	Het
Nckap5	A	G	1: 125,954,102 (GRCm39)	S753P	possibly damaging	Het
Nlrc3	T	C	16: 3,783,056 (GRCm39)	T118A	possibly damaging	Het
Nptx2	T	C	5: 144,490,269 (GRCm39)	Y233H	probably damaging	Het
Nsl1	T	A	1: 190,795,237 (GRCm39)	M1K	probably null	Het
Ntsr1	T	A	2: 180,142,849 (GRCm39)	S213R	possibly damaging	Het
Or4c120	A	T	2: 89,000,975 (GRCm39)	F194I	probably benign	Het
Or4c58	A	G	2: 89,674,513 (GRCm39)	V268A	probably benign	Het
Or52n5	T	A	7: 104,588,021 (GRCm39)	F96Y	possibly damaging	Het
Pde4d	G	A	13: 110,073,244 (GRCm39)	V347I	probably benign	Het
Pik3r4	T	A	9: 105,546,244 (GRCm39)	S865T	probably benign	Het
Ppp2r2d	A	G	7: 138,472,160 (GRCm39)	R136G	probably benign	Het
Proser2	A	C	2: 6,118,721 (GRCm39)	S41A	probably damaging	Het
Proz	A	T	8: 13,123,460 (GRCm39)	K244*	probably null	Het
Prpf38b	A	T	3: 108,812,586 (GRCm39)	L209H	probably damaging	Het
R3hdm1	C	A	1: 128,112,254 (GRCm39)	A390E	probably benign	Het
Rb1cc1	A	C	1: 6,310,547 (GRCm39)	D315A	probably damaging	Het
Rnf141	G	A	7: 110,436,345 (GRCm39)	R28*	probably null	Het
Rps6kc1	A	T	1: 190,531,627 (GRCm39)	S792T	probably benign	Het
Rxrg	A	G	1: 167,458,606 (GRCm39)	D233G	possibly damaging	Het
Sh2d7	A	G	9: 54,448,321 (GRCm39)	N114S	probably benign	Het
Slc25a38	T	C	9: 119,949,899 (GRCm39)	V205A	probably benign	Het
Slc4a10	T	C	2: 62,127,361 (GRCm39)		probably benign	Het
Spred1	T	A	2: 116,983,459 (GRCm39)		probably null	Het
Stt3b	A	G	9: 115,077,635 (GRCm39)	S706P	probably benign	Het
Tcerg1	C	A	18: 42,697,305 (GRCm39)		probably benign	Het
Tent5a	T	C	9: 85,207,108 (GRCm39)	Y230C	probably damaging	Het
Thsd4	A	T	9: 59,910,261 (GRCm39)	I109N	probably damaging	Het
Ticrr	C	A	7: 79,344,236 (GRCm39)	P1367Q	probably damaging	Het
Trpv1	A	G	11: 73,130,255 (GRCm39)	D146G	probably damaging	Het
Tubd1	T	G	11: 86,448,602 (GRCm39)	V305G	possibly damaging	Het
Tubgcp4	T	C	2: 121,005,855 (GRCm39)	L81P	probably benign	Het
Ubxn2b	T	A	4: 6,196,404 (GRCm39)		probably null	Het
Usp36	A	T	11: 118,156,020 (GRCm39)	S586T	probably benign	Het
Vcan	T	A	13: 89,826,264 (GRCm39)	D2220V	probably damaging	Het
Vmn1r173	T	A	7: 23,402,216 (GRCm39)	N150K	probably damaging	Het
Vmn1r70	G	A	7: 10,368,204 (GRCm39)	A231T	probably damaging	Het
Vmn2r97	A	G	17: 19,167,930 (GRCm39)	D728G	probably damaging	Het
Zbtb40	T	C	4: 136,710,539 (GRCm39)	E1200G	probably damaging	Het
Zfp365	A	T	10: 67,733,436 (GRCm39)	V252D	probably damaging	Het

Other mutations in Gpsm2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01597:Gpsm2	APN	3	108,604,303 (GRCm39)	missense	probably benign	0.00
IGL01754:Gpsm2	APN	3	108,610,361 (GRCm39)	missense	probably damaging	1.00
IGL02624:Gpsm2	APN	3	108,589,349 (GRCm39)	missense	probably benign	0.01
IGL03005:Gpsm2	APN	3	108,594,322 (GRCm39)	splice site	probably benign
R1793:Gpsm2	UTSW	3	108,608,225 (GRCm39)	missense	probably benign	0.14
R1796:Gpsm2	UTSW	3	108,609,166 (GRCm39)	missense	probably damaging	0.99
R4174:Gpsm2	UTSW	3	108,609,825 (GRCm39)	missense	probably damaging	1.00
R7048:Gpsm2	UTSW	3	108,610,361 (GRCm39)	missense	probably damaging	1.00
R7325:Gpsm2	UTSW	3	108,610,244 (GRCm39)	missense	probably damaging	1.00
R7400:Gpsm2	UTSW	3	108,587,004 (GRCm39)	missense	probably damaging	1.00
R7574:Gpsm2	UTSW	3	108,608,061 (GRCm39)	missense	probably damaging	0.98
R7657:Gpsm2	UTSW	3	108,608,061 (GRCm39)	missense	probably damaging	0.98
R7709:Gpsm2	UTSW	3	108,609,097 (GRCm39)	missense	probably benign	0.08
R8181:Gpsm2	UTSW	3	108,597,080 (GRCm39)	critical splice donor site	probably null
R8511:Gpsm2	UTSW	3	108,589,399 (GRCm39)	missense	probably benign	0.00
R8880:Gpsm2	UTSW	3	108,610,335 (GRCm39)	missense	possibly damaging	0.81
R9399:Gpsm2	UTSW	3	108,590,090 (GRCm39)	nonsense	probably null
R9439:Gpsm2	UTSW	3	108,610,397 (GRCm39)	missense	probably damaging	1.00
Z1088:Gpsm2	UTSW	3	108,608,076 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCAAGAAAAGGACGGGTCCCTAGTG -3'
(R):5'- TCTACTTGCATGACTACGCCAAAGC -3'

Sequencing Primer
(F):5'- TAGTGCCCATCCACAGAAAGTC -3'
(R):5'- AACTCTTGCACGGTAATTTCAGC -3'

Posted On

2013-05-23