Mutagenetix > Incidental Mutation

Incidental Mutation 'R6338:Gpatch2'

514301

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: 0.074) question?

Stock #

R6338 (G1)

Quality Score

186.009

Status

Not validated

Chromosome

Chromosomal Location

187215508-187351704 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 187225514 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 22 (R22L)

Ref Sequence

ENSEMBL: ENSMUSP00000137858 (fasta)

Gene Model

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

AlphaFold

Q7TQC7

Predicted Effect

probably damaging
Transcript: ENSMUST00000044812
AA Change: R22L

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000048979
Gene: ENSMUSG00000039210
AA Change: R22L

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

possibly damaging
Transcript: ENSMUST00000065573
AA Change: R22L

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000065009
Gene: ENSMUSG00000039210
AA Change: R22L

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

noncoding transcript
Transcript: ENSMUST00000097443

SMART Domains

Protein: ENSMUSP00000095052
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

possibly damaging
Transcript: ENSMUST00000110943
AA Change: R22L

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000106568
Gene: ENSMUSG00000039210
AA Change: R22L

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 damaging
Transcript: ENSMUST00000159748
AA Change: R22L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000137858
Gene: ENSMUSG00000039210
AA Change: R22L

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: 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 damaging
Transcript: ENSMUST00000160481
AA Change: R22L

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000137801
Gene: ENSMUSG00000039210
AA Change: R22L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161260

Coding Region Coverage

1x: 100.0%
3x: 99.7%
10x: 98.1%
20x: 93.8%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acer3	T	C	7: 98,257,715	Y128C	probably damaging	Het
Adam30	T	G	3: 98,161,541	I102S	probably damaging	Het
Adcy8	A	T	15: 64,920,617	D163E	possibly damaging	Het
Agrn	C	T	4: 156,170,585	E1614K	probably benign	Het
Aldh16a1	A	T	7: 45,141,961	W107R	probably damaging	Het
Arfgef2	A	G	2: 166,845,570	D238G	probably damaging	Het
Arhgap11a	T	C	2: 113,833,725	S738G	probably benign	Het
Arid5b	C	A	10: 68,098,561	G504*	probably null	Het
Carmil3	T	C	14: 55,499,849	V763A	possibly damaging	Het
Cd209e	T	A	8: 3,849,154	D186V	probably damaging	Het
Cdh23	T	C	10: 60,413,151	D882G	probably damaging	Het
Cdh4	T	C	2: 179,890,812	V689A	probably damaging	Het
Cntn6	T	A	6: 104,726,139	V174E	probably damaging	Het
Col7a1	C	T	9: 108,956,633	T390M	unknown	Het
Crybg1	T	C	10: 43,992,509	D1017G	probably damaging	Het
Csmd1	T	G	8: 15,932,492	K2725T	possibly damaging	Het
Dnaaf2	T	C	12: 69,198,122	E55G	probably damaging	Het
Fam13a	A	G	6: 58,953,499	V476A	probably damaging	Het
Fem1b	A	T	9: 62,797,011	D322E	probably benign	Het
Frmpd1	G	A	4: 45,274,489	V466I	probably benign	Het
Gm11639	C	T	11: 104,843,208	R2027*	probably null	Het
Gm20671	A	T	5: 32,820,647	D1794E	probably damaging	Het
Gtf2h1	A	G	7: 46,816,456	T450A	probably benign	Het
Kcnc2	G	C	10: 112,271,856	G51R	probably benign	Het
Krit1	T	G	5: 3,836,857	M702R	probably benign	Het
Krt34	T	C	11: 100,038,490	N298S	probably benign	Het
Lrrcc1	T	A	3: 14,547,316	N376K	possibly damaging	Het
Myo15	A	G	11: 60,478,133	E573G	probably damaging	Het
Olfr1224-ps1	T	A	2: 89,156,371	K268I	probably damaging	Het
Olfr1390	A	G	11: 49,340,867	S112G	probably benign	Het
Olfr366	A	T	2: 37,219,822	D111V	probably damaging	Het
Olfr391-ps	A	T	11: 73,799,319	L146Q	possibly damaging	Het
Olfr661	T	A	7: 104,688,171	V52E	possibly damaging	Het
Olfr736	T	A	14: 50,393,400	F215I	possibly damaging	Het
Phf20	A	T	2: 156,273,686	Q309L	possibly damaging	Het
Plcd1	G	A	9: 119,074,991	R292C	probably damaging	Het
Pold3	A	G	7: 100,088,105	V342A	possibly damaging	Het
Polr2a	A	T	11: 69,739,679		probably null	Het
Ptprcap	A	G	19: 4,156,224	E102G	probably benign	Het
Rab11fip5	T	C	6: 85,341,378	E843G	possibly damaging	Het
Rai14	T	C	15: 10,574,976	D632G	probably damaging	Het
Rnf149	A	T	1: 39,560,742	C268S	probably null	Het
Slc6a13	T	A	6: 121,334,839	F392I	probably damaging	Het
Slc7a11	C	T	3: 50,384,043		probably null	Het
Slf1	T	A	13: 77,084,462		probably null	Het
Stard9	G	A	2: 120,697,485	V1408I	probably benign	Het
Suclg1	T	C	6: 73,264,246	I183T	probably damaging	Het
Syne1	T	C	10: 5,255,475	E3497G	probably benign	Het
Tax1bp1	C	T	6: 52,729,376	R121*	probably null	Het
Tdpoz2	C	T	3: 93,652,336	V110I	probably benign	Het
Ubn2	A	G	6: 38,490,714	T788A	probably benign	Het
Unc13c	T	A	9: 73,734,447	I1255F	probably damaging	Het
Usp44	G	T	10: 93,846,513	R275I	probably damaging	Het
Uspl1	A	G	5: 149,215,034	N1015D	probably benign	Het
Wbp2nl	G	T	15: 82,299,045	W13C	possibly damaging	Het
Zc3h14	T	A	12: 98,758,590	D170E	possibly 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
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
R8508:Gpatch2	UTSW	1	187304355	missense	probably benign	0.04
R9236:Gpatch2	UTSW	1	187233780	missense	probably benign	0.06
R9274:Gpatch2	UTSW	1	187230832	missense	probably damaging	1.00
R9647:Gpatch2	UTSW	1	187322345	missense	probably damaging	1.00
Z1177:Gpatch2	UTSW	1	187225691	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAATCAGATTGAAGCTGTCATCC -3'
(R):5'- AATCAGAGCCTTCACTTAAGCAG -3'

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

Posted On

2018-04-27