Mutagenetix > Incidental Mutation

Incidental Mutation 'R8508:Gpatch2'

655677

Institutional Source

Beutler Lab

Gene Symbol

Gpatch2

Ensembl Gene

ENSMUSG00000039210

Gene Name

G patch domain containing 2

Synonyms

5830433G22Rik, 5830436K05Rik, Gpatc2

MMRRC Submission

067844-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R8508 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

186947705-187083901 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 187036552 bp (GRCm39)

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]

AlphaFold

Q7TQC7

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
4932438H23Rik	T	G	16: 90,852,500 (GRCm39)	Y212S	probably damaging	Het
Angpt1	T	C	15: 42,375,795 (GRCm39)	N154D	probably damaging	Het
Angpt2	G	A	8: 18,791,135 (GRCm39)	R54*	probably null	Het
Ankrd27	T	A	7: 35,301,051 (GRCm39)	L117*	probably null	Het
Arhgap21	C	T	2: 20,858,991 (GRCm39)	M1234I	probably benign	Het
Arhgef33	A	G	17: 80,674,764 (GRCm39)	E387G	probably damaging	Het
Atp13a4	T	A	16: 29,273,587 (GRCm39)	K444*	probably null	Het
Atp6v1a	G	A	16: 43,922,225 (GRCm39)	R338C	probably damaging	Het
Canx	T	C	11: 50,202,474 (GRCm39)	D44G	possibly damaging	Het
Ccdc141	T	A	2: 76,962,588 (GRCm39)	M119L	probably benign	Het
Ckmt1	A	C	2: 121,193,172 (GRCm39)	Q299P	possibly damaging	Het
Dhx16	T	C	17: 36,196,812 (GRCm39)	S601P	probably damaging	Het
Dna2	A	C	10: 62,786,673 (GRCm39)	R140S	probably damaging	Het
Dock1	A	G	7: 134,384,138 (GRCm39)	T670A	probably benign	Het
Eif1ad10	T	G	12: 88,216,455 (GRCm39)	E139A	unknown	Het
Eogt	A	G	6: 97,120,959 (GRCm39)	S85P	possibly damaging	Het
Fbf1	A	T	11: 116,056,707 (GRCm39)	M1K	probably null	Het
Fbxl12	C	A	9: 20,550,160 (GRCm39)	R165L	possibly damaging	Het
Flnb	G	A	14: 7,950,394 (GRCm38)	V2571I	probably damaging	Het
Gm43518	A	G	5: 124,076,322 (GRCm39)	E123G	unknown	Het
Hey1	G	C	3: 8,729,836 (GRCm39)	A207G	probably benign	Het
Hoxa11	T	C	6: 52,222,782 (GRCm39)		probably benign	Het
Hydin	G	A	8: 111,308,650 (GRCm39)	V3979I	probably benign	Het
Ighe	C	T	12: 113,235,413 (GRCm39)	W277*	probably null	Het
Kmt2c	G	T	5: 25,519,120 (GRCm39)	T2330K	probably benign	Het
Krt6a	T	A	15: 101,601,170 (GRCm39)	K261M	probably damaging	Het
Lats2	A	C	14: 57,960,162 (GRCm39)	S161A	probably benign	Het
Med13l	T	A	5: 118,892,386 (GRCm39)	D1936E	probably benign	Het
Mipol1	T	C	12: 57,352,874 (GRCm39)	V71A	possibly damaging	Het
Mphosph8	A	T	14: 56,914,003 (GRCm39)	K415*	probably null	Het
Npepps	A	G	11: 97,135,252 (GRCm39)		probably null	Het
Ntn4	A	T	10: 93,576,966 (GRCm39)	N545Y	possibly damaging	Het
Or11g1	A	C	14: 50,651,132 (GRCm39)	M44L	probably benign	Het
Or1n1b	A	G	2: 36,780,366 (GRCm39)	S165P	probably damaging	Het
Or2m12	T	C	16: 19,105,451 (GRCm39)	D14G	probably benign	Het
Or9i2	A	T	19: 13,815,766 (GRCm39)	M257K	possibly damaging	Het
Osbpl2	T	A	2: 179,797,136 (GRCm39)	V358E	possibly damaging	Het
Pdcd11	C	A	19: 47,108,245 (GRCm39)	P1204Q	probably damaging	Het
Pnliprp2	A	C	19: 58,751,806 (GRCm39)	S184R	probably damaging	Het
Ppm1g	G	T	5: 31,361,872 (GRCm39)	R373S	probably damaging	Het
Rnf130	A	G	11: 49,978,264 (GRCm39)	D275G	probably damaging	Het
Rps18-ps5	A	G	13: 28,441,694 (GRCm39)	I26V	probably benign	Het
Setd5	T	C	6: 113,098,048 (GRCm39)	S696P	probably damaging	Het
Sgip1	A	G	4: 102,772,268 (GRCm39)	Q219R	probably benign	Het
Slc1a2	T	C	2: 102,566,430 (GRCm39)		probably null	Het
Slc22a12	T	C	19: 6,592,467 (GRCm39)	T106A	probably benign	Het
Slc22a14	A	G	9: 119,009,651 (GRCm39)	L148P	probably damaging	Het
Slc2a9	A	T	5: 38,539,421 (GRCm39)	F375I	probably damaging	Het
Sorbs3	A	T	14: 70,440,396 (GRCm39)	D117E	probably benign	Het
Spata31d1e	A	G	13: 59,891,412 (GRCm39)	L136P	probably benign	Het
Sphkap	G	A	1: 83,254,221 (GRCm39)	T1176I	probably damaging	Het
Supt16	A	T	14: 52,419,046 (GRCm39)	V193D	probably damaging	Het
Sytl3	A	G	17: 6,995,690 (GRCm39)	T362A	probably damaging	Het
Tctn1	T	A	5: 122,384,674 (GRCm39)	Q410L	probably benign	Het
Trbc2	T	C	6: 41,524,711 (GRCm39)	Y133H		Het
Ttc28	G	A	5: 111,381,207 (GRCm39)	D1240N	probably benign	Het
Vmn2r120	A	G	17: 57,832,843 (GRCm39)	V112A	probably benign	Het
Zfp354b	A	T	11: 50,814,297 (GRCm39)	S209R	probably benign	Het
Zfp362	T	C	4: 128,668,399 (GRCm39)	H391R	probably damaging	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
R7885:Gpatch2	UTSW	1	186,957,698 (GRCm39)	critical splice acceptor site	probably null
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'- TCAGGTTGGAAGCAGTCTGG -3'
(R):5'- CAGTTGTTCATACACTGTCACC -3'

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

Posted On

2020-10-20