Mutagenetix > Incidental Mutation

Incidental Mutation 'R6917:Gpatch2l'

539409

Institutional Source

Beutler Lab

Gene Symbol

Gpatch2l

Ensembl Gene

ENSMUSG00000021254

Gene Name

G patch domain containing 2 like

Synonyms

1700020O03Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6917 (G1)

Quality Score

185.009

Status

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: 99.9%
3x: 99.7%
10x: 98.6%
20x: 95.6%

Validation Efficiency

96% (45/47)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	A	G	16: 56,617,321		probably null	Het
Adcy2	A	T	13: 68,620,757	M1084K	possibly damaging	Het
Ak1	A	G	2: 32,631,152	Y95C	possibly damaging	Het
Akap6	A	G	12: 53,069,168	E1018G	probably null	Het
Ccdc175	A	G	12: 72,184,905	S27P	probably damaging	Het
Ddx31	C	T	2: 28,892,409	T588I	probably damaging	Het
Dmxl1	T	C	18: 49,864,148	W504R	probably damaging	Het
Echs1	T	G	7: 140,110,011	M239L	probably benign	Het
Eno1b	A	G	18: 48,047,589	D278G	probably benign	Het
Eno3	A	G	11: 70,661,436	T305A	probably benign	Het
Gm5591	T	A	7: 38,522,190	S152C	probably damaging	Het
Gngt1	A	G	6: 3,996,680	D42G	probably benign	Het
H2-Aa	T	C	17: 34,283,707	T79A	probably damaging	Het
Ice1	A	T	13: 70,594,894	Y2116N	probably damaging	Het
Kdm6b	A	G	11: 69,406,593	M311T	probably benign	Het
L1td1	T	C	4: 98,734,031	F277L	probably benign	Het
Lamp1	T	C	8: 13,172,563	I249T	probably damaging	Het
Ldb3	G	A	14: 34,555,364	A351V	probably null	Het
Lmo7	A	G	14: 101,918,010	E996G	probably damaging	Het
Lsr	T	C	7: 30,958,296	D413G	possibly damaging	Het
Magel2	CCCTCCTCCTCCTCCTCCTCCT	CCCTCCTCCTCCTCCTCCT	7: 62,377,844		probably benign	Het
Myo7a	T	C	7: 98,095,763	E290G	possibly damaging	Het
Nos2	C	T	11: 78,951,227	T735M	possibly damaging	Het
Olfr1335	A	T	4: 118,809,129	L245H	probably damaging	Het
Olfr745	A	G	14: 50,643,223	K314R	possibly damaging	Het
Olfr957	T	A	9: 39,511,199	I174L	probably damaging	Het
Pik3c2g	T	C	6: 139,896,173	L768P	probably benign	Het
Plod2	T	A	9: 92,593,770	V302D	possibly damaging	Het
Ptgdr	A	T	14: 44,858,610	V215E	possibly damaging	Het
Rad51d	C	T	11: 82,879,333	R199Q	probably damaging	Het
Rsrc1	C	T	3: 66,994,649	P44L	unknown	Het
Rtel1	ATT	ATTTT	2: 181,338,277		probably null	Het
Sgip1	A	G	4: 102,968,191	R772G	probably damaging	Het
Slc19a2	C	A	1: 164,261,009	T141N	probably damaging	Het
Sp4	G	T	12: 118,299,173	N379K	probably damaging	Het
Thrap3	A	G	4: 126,180,492		probably benign	Het
Thumpd2	T	G	17: 81,044,114	I293L	probably benign	Het
Tjp1	A	G	7: 65,299,688	S1649P	probably damaging	Het
Tssk4	A	G	14: 55,652,407	S326G	probably benign	Het
Txndc9	A	C	1: 37,995,806	S6A	probably benign	Het
Uhrf1	T	C	17: 56,309,574	Y131H	probably damaging	Het
Vnn3	A	G	10: 23,865,934	D379G	possibly damaging	Het
Vsig2	T	A	9: 37,541,449	S105T	probably benign	Het
Zfp445	A	T	9: 122,862,294		probably null	Het
Zfp654	A	T	16: 64,786,471	M456K	probably damaging	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
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
R7010: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'- TGTAACATGACTGGAAGCGCAG -3'
(R):5'- AATGATGGCACTGAGAGCTG -3'

Sequencing Primer
(F):5'- AGCCGGTCTTCTCAAGCATC -3'
(R):5'- ACTGAGAGCTGGGTGCC -3'

Posted On

2018-11-06