Mutagenetix > Incidental Mutations

Incidental Mutation 'R8508:Gpatch2'

655677

Institutional Source

Beutler Lab

Gene Symbol

Gpatch2

Ensembl Gene

ENSMUSG00000039210

Gene Name

G patch domain containing 2

Synonyms

5830433G22Rik, Gpatc2, 5830436K05Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R8508 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

187215508-187351704 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 187304355 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 374 (N374S)

Ref Sequence

ENSEMBL: ENSMUSP00000065009 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065573] [ENSMUST00000110943] [ENSMUST00000160471] [ENSMUST00000160481] [ENSMUST00000160570]

Predicted Effect

probably benign
Transcript: ENSMUST00000065573
AA Change: N374S

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000065009
Gene: ENSMUSG00000039210
AA Change: N374S

Domain	Start	End	E-Value	Type
low complexity region	61	73	N/A	INTRINSIC
low complexity region	107	118	N/A	INTRINSIC
low complexity region	155	165	N/A	INTRINSIC
low complexity region	205	214	N/A	INTRINSIC
low complexity region	250	265	N/A	INTRINSIC
G_patch	464	510	3.95e-16	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110943
AA Change: N374S

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000106568
Gene: ENSMUSG00000039210
AA Change: N374S

Domain	Start	End	E-Value	Type
low complexity region	61	73	N/A	INTRINSIC
low complexity region	107	118	N/A	INTRINSIC
low complexity region	155	165	N/A	INTRINSIC
low complexity region	205	214	N/A	INTRINSIC
low complexity region	250	265	N/A	INTRINSIC
G_patch	427	473	3.95e-16	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000160471
AA Change: N351S

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000124407
Gene: ENSMUSG00000039210
AA Change: N351S

Domain	Start	End	E-Value	Type
low complexity region	38	50	N/A	INTRINSIC
low complexity region	84	95	N/A	INTRINSIC
low complexity region	132	142	N/A	INTRINSIC
low complexity region	182	191	N/A	INTRINSIC
low complexity region	227	242	N/A	INTRINSIC
G_patch	441	487	3.95e-16	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000160481
AA Change: N374S

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000137801
Gene: ENSMUSG00000039210
AA Change: N374S

Domain	Start	End	E-Value	Type
low complexity region	61	73	N/A	INTRINSIC
low complexity region	107	118	N/A	INTRINSIC
low complexity region	155	165	N/A	INTRINSIC
low complexity region	205	214	N/A	INTRINSIC
low complexity region	250	265	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000160570
AA Change: N43S

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000125750
Gene: ENSMUSG00000039210
AA Change: N43S

Domain	Start	End	E-Value	Type
G_patch	133	179	3.95e-16	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The gene encodes a nuclear factor that may play a role in spermatogenesis and in tumor growth during breast cancer. The encoded protein contains a G-patch domain with an RNA binding motif. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700014D04Rik	A	G	13: 59,743,598	L136P	probably benign	Het
4932438H23Rik	T	G	16: 91,055,612	Y212S	probably damaging	Het
Angpt1	T	C	15: 42,512,399	N154D	probably damaging	Het
Angpt2	G	A	8: 18,741,119	R54*	probably null	Het
Ankrd27	T	A	7: 35,601,626	L117*	probably null	Het
Arhgap21	C	T	2: 20,854,180	M1234I	probably benign	Het
Arhgef33	A	G	17: 80,367,335	E387G	probably damaging	Het
Atp13a4	T	A	16: 29,454,769	K444*	probably null	Het
Atp6v1a	G	A	16: 44,101,862	R338C	probably damaging	Het
Canx	T	C	11: 50,311,647	D44G	possibly damaging	Het
Ccdc141	T	A	2: 77,132,244	M119L	probably benign	Het
Ckmt1	A	C	2: 121,362,691	Q299P	possibly damaging	Het
Dhx16	T	C	17: 35,885,920	S601P	probably damaging	Het
Dna2	A	C	10: 62,950,894	R140S	probably damaging	Het
Dock1	A	G	7: 134,782,409	T670A	probably benign	Het
Eogt	A	G	6: 97,143,998	S85P	possibly damaging	Het
Fbf1	A	T	11: 116,165,881	M1K	probably null	Het
Fbxl12	C	A	9: 20,638,864	R165L	possibly damaging	Het
Flnb	G	A	14: 7,950,394	V2571I	probably damaging	Het
Gm11361	A	G	13: 28,257,711	I26V	probably benign	Het
Gm43518	A	G	5: 123,938,259	E123G	unknown	Het
Gm8332	T	G	12: 88,249,685	E139A	unknown	Het
Hey1	G	C	3: 8,664,776	A207G	probably benign	Het
Hoxa11	T	C	6: 52,245,802		probably benign	Het
Hydin	G	A	8: 110,582,018	V3979I	probably benign	Het
Ighe	C	T	12: 113,271,793	W277*	probably null	Het
Kmt2c	G	T	5: 25,314,122	T2330K	probably benign	Het
Krt6a	T	A	15: 101,692,735	K261M	probably damaging	Het
Lats2	A	C	14: 57,722,705	S161A	probably benign	Het
Med13l	T	A	5: 118,754,321	D1936E	probably benign	Het
Mipol1	T	C	12: 57,306,088	V71A	possibly damaging	Het
Mphosph8	A	T	14: 56,676,546	K415*	probably null	Het
Npepps	A	G	11: 97,244,426		probably null	Het
Ntn4	A	T	10: 93,741,104	N545Y	possibly damaging	Het
Olfr1501	A	T	19: 13,838,402	M257K	possibly damaging	Het
Olfr164	T	C	16: 19,286,701	D14G	probably benign	Het
Olfr353	A	G	2: 36,890,354	S165P	probably damaging	Het
Olfr738	A	C	14: 50,413,675	M44L	probably benign	Het
Osbpl2	T	A	2: 180,155,343	V358E	possibly damaging	Het
Pdcd11	C	A	19: 47,119,806	P1204Q	probably damaging	Het
Pnliprp2	A	C	19: 58,763,374	S184R	probably damaging	Het
Ppm1g	G	T	5: 31,204,528	R373S	probably damaging	Het
Rnf130	A	G	11: 50,087,437	D275G	probably damaging	Het
Setd5	T	C	6: 113,121,087	S696P	probably damaging	Het
Sgip1	A	G	4: 102,915,071	Q219R	probably benign	Het
Slc1a2	T	C	2: 102,736,085		probably null	Het
Slc22a12	T	C	19: 6,542,437	T106A	probably benign	Het
Slc22a14	A	G	9: 119,180,585	L148P	probably damaging	Het
Slc2a9	A	T	5: 38,382,078	F375I	probably damaging	Het
Sorbs3	A	T	14: 70,202,947	D117E	probably benign	Het
Sphkap	G	A	1: 83,276,500	T1176I	probably damaging	Het
Supt16	A	T	14: 52,181,589	V193D	probably damaging	Het
Sytl3	A	G	17: 6,728,291	T362A	probably damaging	Het
Tctn1	T	A	5: 122,246,611	Q410L	probably benign	Het
Trbc2	T	C	6: 41,547,777	Y133H		Het
Ttc28	G	A	5: 111,233,341	D1240N	probably benign	Het
Vmn2r120	A	G	17: 57,525,843	V112A	probably benign	Het
Zfp354b	A	T	11: 50,923,470	S209R	probably benign	Het
Zfp362	T	C	4: 128,774,606	H391R	probably damaging	Het

Other mutations in Gpatch2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01588:Gpatch2	APN	1	187230794	missense	probably damaging	1.00
IGL02324:Gpatch2	APN	1	187225739	missense	probably damaging	1.00
IGL02493:Gpatch2	APN	1	187233128	splice site	probably benign
IGL02583:Gpatch2	APN	1	187233317	splice site	probably null
IGL02583:Gpatch2	APN	1	187233318	splice site	probably null
IGL02632:Gpatch2	APN	1	187225981	missense	probably damaging	1.00
R0100:Gpatch2	UTSW	1	187225817	missense	probably damaging	1.00
R1801:Gpatch2	UTSW	1	187225831	missense	probably benign	0.03
R1966:Gpatch2	UTSW	1	187322301	missense	probably damaging	1.00
R3870:Gpatch2	UTSW	1	187322294	missense	probably damaging	1.00
R4028:Gpatch2	UTSW	1	187226140	missense	possibly damaging	0.53
R4471:Gpatch2	UTSW	1	187233140	missense	probably damaging	1.00
R5346:Gpatch2	UTSW	1	187225868	missense	probably benign	0.00
R6338:Gpatch2	UTSW	1	187225514	missense	probably damaging	0.99
R6936:Gpatch2	UTSW	1	187233236	missense	probably benign	0.04
R7185:Gpatch2	UTSW	1	187226197	missense	probably damaging	1.00
R7708:Gpatch2	UTSW	1	187232766	missense	probably benign
R7885:Gpatch2	UTSW	1	187225501	critical splice acceptor site	probably null
Z1177:Gpatch2	UTSW	1	187225691	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCAGGTTGGAAGCAGTCTGG -3'
(R):5'- CAGTTGTTCATACACTGTCACC -3'

Sequencing Primer
(F):5'- TTGGAAGCAGTCTGGACCTC -3'
(R):5'- ATACACTGTCACCCTCGTGTG -3'

Posted On

2020-10-20