Mutagenetix > Incidental Mutation

Incidental Mutation 'R7010:Gpatch2l'

544974

Institutional Source

Beutler Lab

Gene Symbol

Gpatch2l

Ensembl Gene

ENSMUSG00000021254

Gene Name

G patch domain containing 2 like

Synonyms

1700020O03Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7010 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

86241858-86291784 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 86244184 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 47 (R47H)

Ref Sequence

ENSEMBL: ENSMUSP00000152284 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071106] [ENSMUST00000221368]

AlphaFold

Q6PE65

Predicted Effect

probably damaging
Transcript: ENSMUST00000071106
AA Change: R47H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000065858
Gene: ENSMUSG00000021254
AA Change: R47H

Domain	Start	End	E-Value	Type
low complexity region	33	48	N/A	INTRINSIC
low complexity region	127	135	N/A	INTRINSIC
low complexity region	219	232	N/A	INTRINSIC
low complexity region	413	427	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000221368
AA Change: R47H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Meta Mutation Damage Score

0.1427

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210010C04Rik	A	C	6: 41,032,313	S196A	probably benign	Het
AL592187.3	A	T	15: 77,602,597	Y58F	probably benign	Het
Ano10	T	C	9: 122,253,124	T494A	probably damaging	Het
Asah2	A	T	19: 32,054,554	F72I	probably benign	Het
Atat1	T	C	17: 35,908,630	D114G	probably damaging	Het
Atp6v1e2	C	T	17: 86,944,345	M208I	probably benign	Het
Bicd1	A	G	6: 149,494,615	Y161C	probably damaging	Het
Camk2g	T	C	14: 20,741,444	S410G	probably benign	Het
Car2	C	T	3: 14,900,053	P249L	possibly damaging	Het
Cdh23	T	G	10: 60,530,991	I237L	probably benign	Het
Dlat	T	A	9: 50,657,974	K176N	probably damaging	Het
Dnajc12	T	A	10: 63,397,280	C67S	probably benign	Het
Fat1	G	T	8: 44,953,349	E1046*	probably null	Het
Gmip	G	A	8: 69,811,400	A137T	probably damaging	Het
Grk6	A	G	13: 55,450,300	I62V	possibly damaging	Het
Hook1	G	T	4: 96,014,811	L512F	probably damaging	Het
Ighe	T	C	12: 113,273,141	T36A		Het
Il17rc	A	G	6: 113,479,288	N338S	possibly damaging	Het
Itgb6	T	C	2: 60,649,978	Y338C	probably damaging	Het
Kcnd2	A	G	6: 21,216,708	Y137C	probably damaging	Het
L3mbtl3	T	A	10: 26,282,861		probably null	Het
Lcn3	T	C	2: 25,766,056	F41S	probably damaging	Het
Map3k8	T	C	18: 4,334,060	H344R	probably damaging	Het
Marf1	A	T	16: 14,137,001	I884N	probably damaging	Het
Nalcn	G	A	14: 123,293,465	T1387I	probably damaging	Het
Nrros	T	C	16: 32,143,580	T540A	probably damaging	Het
Olfr487	A	T	7: 108,212,142	I129N	probably damaging	Het
Pank2	T	C	2: 131,280,373	Y273H	probably benign	Het
Pgrmc2	A	G	3: 41,082,633	V121A	probably damaging	Het
Phldb2	C	T	16: 45,751,505	V1175M	probably damaging	Het
Ranbp2	A	G	10: 58,454,571		probably null	Het
Rsrc1	C	T	3: 66,994,649	P44L	unknown	Het
Syt7	A	G	19: 10,417,990	T55A	probably benign	Het
Tfcp2l1	T	C	1: 118,653,727	S137P	probably damaging	Het
Tom1	T	A	8: 75,051,975	V140D	probably damaging	Het
Ttc23l	T	G	15: 10,515,138	I385L	probably damaging	Het
Vmn1r122	A	G	7: 21,133,971	V53A	probably damaging	Het
Vmn2r1	C	T	3: 64,104,725	T669I	probably benign	Het
Vmn2r86	A	G	10: 130,455,857	L13P	probably benign	Het
Zfp958	T	C	8: 4,628,377	I134T	probably benign	Het

Other mutations in Gpatch2l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02335:Gpatch2l	APN	12	86256937	splice site	probably benign
IGL02458:Gpatch2l	APN	12	86288961	utr 3 prime	probably benign
IGL03131:Gpatch2l	APN	12	86281511	missense	probably benign	0.00
R0546:Gpatch2l	UTSW	12	86288848	makesense	probably null
R1349:Gpatch2l	UTSW	12	86260709	missense	possibly damaging	0.94
R1368:Gpatch2l	UTSW	12	86260665	missense	possibly damaging	0.73
R1600:Gpatch2l	UTSW	12	86256934	critical splice donor site	probably null
R1701:Gpatch2l	UTSW	12	86288952	missense	probably benign	0.00
R2656:Gpatch2l	UTSW	12	86288810	missense	probably damaging	1.00
R3149:Gpatch2l	UTSW	12	86244315	missense	possibly damaging	0.76
R3150:Gpatch2l	UTSW	12	86244315	missense	possibly damaging	0.76
R3176:Gpatch2l	UTSW	12	86244315	missense	possibly damaging	0.76
R3177:Gpatch2l	UTSW	12	86244315	missense	possibly damaging	0.76
R3276:Gpatch2l	UTSW	12	86244315	missense	possibly damaging	0.76
R3277:Gpatch2l	UTSW	12	86244315	missense	possibly damaging	0.76
R4342:Gpatch2l	UTSW	12	86260679	missense	probably benign	0.00
R5161:Gpatch2l	UTSW	12	86267176	missense	probably benign	0.17
R5712:Gpatch2l	UTSW	12	86244480	missense	probably damaging	1.00
R6343:Gpatch2l	UTSW	12	86260605	nonsense	probably null
R6899:Gpatch2l	UTSW	12	86244184	missense	probably damaging	1.00
R6910:Gpatch2l	UTSW	12	86244184	missense	probably damaging	1.00
R6911:Gpatch2l	UTSW	12	86244184	missense	probably damaging	1.00
R6912:Gpatch2l	UTSW	12	86244184	missense	probably damaging	1.00
R6917:Gpatch2l	UTSW	12	86244184	missense	probably damaging	1.00
R6930:Gpatch2l	UTSW	12	86244184	missense	probably damaging	1.00
R6994:Gpatch2l	UTSW	12	86244184	missense	probably damaging	1.00
R6995:Gpatch2l	UTSW	12	86244184	missense	probably damaging	1.00
R6996:Gpatch2l	UTSW	12	86244184	missense	probably damaging	1.00
R6998:Gpatch2l	UTSW	12	86244184	missense	probably damaging	1.00
R6999:Gpatch2l	UTSW	12	86244184	missense	probably damaging	1.00
R7000:Gpatch2l	UTSW	12	86244184	missense	probably damaging	1.00
R7001:Gpatch2l	UTSW	12	86244184	missense	probably damaging	1.00
R7002:Gpatch2l	UTSW	12	86244184	missense	probably damaging	1.00
R7003:Gpatch2l	UTSW	12	86244184	missense	probably damaging	1.00
R7011:Gpatch2l	UTSW	12	86244184	missense	probably damaging	1.00
R7203:Gpatch2l	UTSW	12	86288937	missense	probably benign	0.40
R7239:Gpatch2l	UTSW	12	86260575	critical splice acceptor site	probably null
R7327:Gpatch2l	UTSW	12	86256872	missense	probably damaging	1.00
R7419:Gpatch2l	UTSW	12	86265251	critical splice donor site	probably null
R8231:Gpatch2l	UTSW	12	86244189	missense	probably damaging	1.00
R8876:Gpatch2l	UTSW	12	86261631	missense	probably damaging	0.99
R9189:Gpatch2l	UTSW	12	86244378	missense	probably benign	0.13
R9284:Gpatch2l	UTSW	12	86244109	missense	probably benign	0.01
R9432:Gpatch2l	UTSW	12	86260634	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AGCCGGTCTTCTCAAGCATC -3'
(R):5'- GAATGTTGCTTACCCCTAATGATGG -3'

Sequencing Primer
(F):5'- TCTCAAGCATCATTCTTCATCAAG -3'
(R):5'- TTACCCCTAATGATGGCACTGAGAG -3'

Posted On

2019-05-13