Mutagenetix > Incidental Mutation

Incidental Mutation 'R7885:Gpatch2'

608987

Institutional Source

Beutler Lab

Gene Symbol

Gpatch2

Ensembl Gene

ENSMUSG00000039210

Gene Name

G patch domain containing 2

Synonyms

5830433G22Rik, 5830436K05Rik, Gpatc2

MMRRC Submission

045937-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R7885 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

186947705-187083901 bp(+) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to G at 186957698 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000065009 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044812] [ENSMUST00000065573] [ENSMUST00000110943] [ENSMUST00000159748] [ENSMUST00000160471] [ENSMUST00000160481] [ENSMUST00000160570]

AlphaFold

Q7TQC7

Predicted Effect

probably null
Transcript: ENSMUST00000044812

SMART Domains

Protein: ENSMUSP00000048979
Gene: ENSMUSG00000039210

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 null
Transcript: ENSMUST00000065573

SMART Domains

Protein: ENSMUSP00000065009
Gene: ENSMUSG00000039210

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 null
Transcript: ENSMUST00000110943

SMART Domains

Protein: ENSMUSP00000106568
Gene: ENSMUSG00000039210

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: ENSMUST00000159748

SMART Domains

Protein: ENSMUSP00000137858
Gene: ENSMUSG00000039210

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 null
Transcript: ENSMUST00000160471

SMART Domains

Protein: ENSMUSP00000124407
Gene: ENSMUSG00000039210

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

SMART Domains

Protein: ENSMUSP00000137801
Gene: ENSMUSG00000039210

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

SMART Domains

Protein: ENSMUSP00000125750
Gene: ENSMUSG00000039210

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

Coding Region Coverage

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

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The 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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb1	A	G	10: 77,131,542 (GRCm39)	V649A	possibly damaging	Het
Arglu1	C	T	8: 8,717,337 (GRCm39)	R244H	possibly damaging	Het
Asic5	A	T	3: 81,913,812 (GRCm39)	Y204F	probably benign	Het
Asz1	A	G	6: 18,104,876 (GRCm39)	F76S	probably damaging	Het
Bin1	G	A	18: 32,552,896 (GRCm39)	A174T	probably damaging	Het
Bnipl	A	C	3: 95,157,551 (GRCm39)	S23A	probably benign	Het
Cd19	T	C	7: 126,011,303 (GRCm39)	T294A	probably benign	Het
Cdon	G	A	9: 35,367,818 (GRCm39)	V238I	probably benign	Het
Chd3	A	T	11: 69,247,451 (GRCm39)	D957E	probably benign	Het
Crhbp	T	C	13: 95,568,515 (GRCm39)	Q307R	probably damaging	Het
Cst3	A	G	2: 148,714,741 (GRCm39)	M112T	probably benign	Het
Dgkb	A	G	12: 38,189,425 (GRCm39)	E276G	probably damaging	Het
Exoc4	T	A	6: 33,735,001 (GRCm39)	N539K	probably benign	Het
Gm3099	A	G	14: 15,345,429 (GRCm39)	E85G	probably benign	Het
Hs3st5	T	A	10: 36,704,776 (GRCm39)	Y26*	probably null	Het
Hspg2	A	T	4: 137,244,148 (GRCm39)	D802V	probably damaging	Het
Ifih1	A	G	2: 62,431,813 (GRCm39)	V846A	possibly damaging	Het
Lama4	T	A	10: 38,964,840 (GRCm39)	S1402T	probably benign	Het
Lrmda	A	G	14: 22,648,388 (GRCm39)	T73A	unknown	Het
Lrrc1	A	T	9: 77,349,471 (GRCm39)	V365E	probably damaging	Het
Lrrc37a	T	A	11: 103,393,868 (GRCm39)	Q519L	probably benign	Het
Mlc1	G	T	15: 88,862,107 (GRCm39)	D36E	probably benign	Het
Mrc2	A	T	11: 105,223,092 (GRCm39)	D445V	probably damaging	Het
Muc16	A	G	9: 18,550,760 (GRCm39)	S5178P	probably benign	Het
Nbea	A	G	3: 55,573,110 (GRCm39)	I2491T	probably damaging	Het
Ncoa1	A	G	12: 4,389,044 (GRCm39)	I77T	probably damaging	Het
Npepps	G	T	11: 97,109,474 (GRCm39)	H701N	probably damaging	Het
Or4n4b	T	G	14: 50,536,041 (GRCm39)	T242P	probably damaging	Het
Or7g22	A	T	9: 19,048,831 (GRCm39)	I181F	possibly damaging	Het
Pclo	T	TTCTAG	5: 14,764,209 (GRCm39)		probably null	Het
Pclo	GTCTAT	GTCTATTCTAT	5: 14,764,204 (GRCm39)		probably null	Het
Pclo	TCTAT	TCTATACTAT	5: 14,764,205 (GRCm39)		probably null	Het
Pi4kb	T	C	3: 94,906,387 (GRCm39)	Y645H	probably damaging	Het
Pik3r5	C	T	11: 68,383,528 (GRCm39)	A449V	possibly damaging	Het
Plat	A	G	8: 23,261,736 (GRCm39)	T45A	probably benign	Het
Platr25	T	C	13: 62,848,676 (GRCm39)	K62R	possibly damaging	Het
Ppp5c	A	G	7: 16,740,111 (GRCm39)	V410A	possibly damaging	Het
Prdm2	C	T	4: 142,861,140 (GRCm39)	A717T	probably benign	Het
Pstpip2	C	A	18: 77,882,422 (GRCm39)	T2K	probably benign	Het
Ptpn12	A	C	5: 21,203,523 (GRCm39)	S418R	possibly damaging	Het
Rint1	A	G	5: 24,010,642 (GRCm39)	S255G	probably benign	Het
Rmc1	T	C	18: 12,322,371 (GRCm39)	L608P	probably damaging	Het
Sltm	C	G	9: 70,493,955 (GRCm39)	P802R	possibly damaging	Het
Stab2	T	C	10: 86,714,776 (GRCm39)	H1581R	probably benign	Het
Stau2	T	C	1: 16,530,577 (GRCm39)	Y114C	unknown	Het
Ticam1	T	C	17: 56,578,067 (GRCm39)	T343A	probably benign	Het
Tmem131l	T	C	3: 83,817,724 (GRCm39)	K1259E	possibly damaging	Het
Vmn2r103	T	A	17: 20,013,385 (GRCm39)	F169I	probably benign	Het
Vps33a	T	C	5: 123,673,312 (GRCm39)	K425E	possibly damaging	Het
Vwa8	T	C	14: 79,258,089 (GRCm39)	M746T	probably benign	Het
Zc3hav1	A	G	6: 38,313,598 (GRCm39)	I149T	possibly damaging	Het
Zfp708	A	T	13: 67,222,193 (GRCm39)	D62E	probably benign	Het

Other mutations in Gpatch2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01588:Gpatch2	APN	1	186,962,991 (GRCm39)	missense	probably damaging	1.00
IGL02324:Gpatch2	APN	1	186,957,936 (GRCm39)	missense	probably damaging	1.00
IGL02493:Gpatch2	APN	1	186,965,325 (GRCm39)	splice site	probably benign
IGL02583:Gpatch2	APN	1	186,965,515 (GRCm39)	splice site	probably null
IGL02583:Gpatch2	APN	1	186,965,514 (GRCm39)	splice site	probably null
IGL02632:Gpatch2	APN	1	186,958,178 (GRCm39)	missense	probably damaging	1.00
R0100:Gpatch2	UTSW	1	186,958,014 (GRCm39)	missense	probably damaging	1.00
R1801:Gpatch2	UTSW	1	186,958,028 (GRCm39)	missense	probably benign	0.03
R1966:Gpatch2	UTSW	1	187,054,498 (GRCm39)	missense	probably damaging	1.00
R3870:Gpatch2	UTSW	1	187,054,491 (GRCm39)	missense	probably damaging	1.00
R4028:Gpatch2	UTSW	1	186,958,337 (GRCm39)	missense	possibly damaging	0.53
R4471:Gpatch2	UTSW	1	186,965,337 (GRCm39)	missense	probably damaging	1.00
R5346:Gpatch2	UTSW	1	186,958,065 (GRCm39)	missense	probably benign	0.00
R6338:Gpatch2	UTSW	1	186,957,711 (GRCm39)	missense	probably damaging	0.99
R6936:Gpatch2	UTSW	1	186,965,433 (GRCm39)	missense	probably benign	0.04
R7185:Gpatch2	UTSW	1	186,958,394 (GRCm39)	missense	probably damaging	1.00
R7708:Gpatch2	UTSW	1	186,964,963 (GRCm39)	missense	probably benign
R8508:Gpatch2	UTSW	1	187,036,552 (GRCm39)	missense	probably benign	0.04
R9236:Gpatch2	UTSW	1	186,965,977 (GRCm39)	missense	probably benign	0.06
R9274:Gpatch2	UTSW	1	186,963,029 (GRCm39)	missense	probably damaging	1.00
R9647:Gpatch2	UTSW	1	187,054,542 (GRCm39)	missense	probably damaging	1.00
Z1177:Gpatch2	UTSW	1	186,957,888 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACGAATCAGATTGAAGCTGTCATCC -3'
(R):5'- ATCAGAGCCTTCACTTAAGCAG -3'

Sequencing Primer
(F):5'- GAAGCTGTCATCCTTTGAATAGTTC -3'
(R):5'- TGAACATTGTAGGATCTCCGC -3'

Posted On

2019-12-20