Mutagenetix > Incidental Mutation

Incidental Mutation 'R7327:Gpatch2l'

569005

Institutional Source

Beutler Lab

Gene Symbol

Gpatch2l

Ensembl Gene

ENSMUSG00000021254

Gene Name

G patch domain containing 2 like

Synonyms

1700020O03Rik

MMRRC Submission

045420-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7327 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86241858-86291784 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86256872 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 223 (T223A)

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: T223A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000065858
Gene: ENSMUSG00000021254
AA Change: T223A

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: T223A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (63/63)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf3	C	T	16: 20,548,680 (GRCm38)	T3I	probably benign	Het
Ahi1	T	A	10: 20,987,077 (GRCm38)	V717E	probably damaging	Het
Anapc4	A	G	5: 52,845,330 (GRCm38)	T238A	probably damaging	Het
Arhgap27	A	T	11: 103,360,541 (GRCm38)	C120*	probably null	Het
Bdp1	A	T	13: 100,041,532 (GRCm38)	V1943D	probably damaging	Het
Cdc14b	A	G	13: 64,225,647 (GRCm38)	V141A	probably damaging	Het
Cfap46	G	T	7: 139,635,146 (GRCm38)		probably null	Het
Cgnl1	C	A	9: 71,725,883 (GRCm38)	R62L	possibly damaging	Het
Chaf1a	A	G	17: 56,062,573 (GRCm38)	S522G	probably benign	Het
Cox19	A	G	5: 139,342,647 (GRCm38)	F37S	probably damaging	Het
Csmd1	G	A	8: 16,058,707 (GRCm38)	S1894L	probably damaging	Het
Cyp4a12a	A	T	4: 115,327,559 (GRCm38)	R346W	probably damaging	Het
Dip2a	A	C	10: 76,272,562 (GRCm38)	C1315G	probably benign	Het
Dmxl2	A	C	9: 54,401,585 (GRCm38)	W1961G	probably damaging	Het
Dst	T	C	1: 34,201,405 (GRCm38)	L1945P	probably damaging	Het
Efr3a	A	G	15: 65,819,778 (GRCm38)	S92G	probably damaging	Het
Ep300	C	T	15: 81,627,314 (GRCm38)	T865I	unknown	Het
Ercc6	A	G	14: 32,526,404 (GRCm38)	E304G	probably benign	Het
Filip1l	A	C	16: 57,570,937 (GRCm38)	E629D	probably damaging	Het
Frem1	G	A	4: 83,020,755 (GRCm38)	T30I	possibly damaging	Het
Glb1	T	C	9: 114,417,058 (GRCm38)	F59S	probably benign	Het
Gli3	T	C	13: 15,725,559 (GRCm38)	L1177P	probably benign	Het
Gpt2	G	A	8: 85,518,052 (GRCm38)	E325K	probably benign	Het
Hmcn1	A	T	1: 150,603,814 (GRCm38)	M4633K	probably benign	Het
Hoxc8	T	A	15: 102,991,110 (GRCm38)	Y111N	probably damaging	Het
Ifi207	A	G	1: 173,729,015 (GRCm38)	L726P	probably benign	Het
Iqcn	T	A	8: 70,716,804 (GRCm38)	M1181K	possibly damaging	Het
Iqgap2	T	A	13: 95,635,655 (GRCm38)	M1339L	probably benign	Het
Kif21b	A	G	1: 136,159,649 (GRCm38)	Q901R	possibly damaging	Het
Krtap4-8	C	A	11: 99,780,408 (GRCm38)	C79F	unknown	Het
Ldb3	T	C	14: 34,571,802 (GRCm38)	N155S	probably damaging	Het
Mad2l1	T	A	6: 66,539,810 (GRCm38)	V162E	probably benign	Het
Map7	T	A	10: 20,233,462 (GRCm38)	V87E	unknown	Het
Mndal	A	T	1: 173,875,619 (GRCm38)	D73E	unknown	Het
Msantd1	T	C	5: 34,917,695 (GRCm38)	S34P	probably damaging	Het
Myh14	T	C	7: 44,611,553 (GRCm38)	Q1838R	possibly damaging	Het
Myh15	G	T	16: 49,173,006 (GRCm38)	R1668L	possibly damaging	Het
Ncoa7	A	G	10: 30,689,800 (GRCm38)	M666T	probably damaging	Het
Nol6	A	T	4: 41,116,686 (GRCm38)	L944Q	probably benign	Het
Or5h27	A	T	16: 59,186,013 (GRCm38)	F157I	unknown	Het
Orc1	A	G	4: 108,588,714 (GRCm38)	T10A	probably benign	Het
Pcp4l1	G	A	1: 171,174,465 (GRCm38)	A42V	possibly damaging	Het
Pglyrp2	C	T	17: 32,415,919 (GRCm38)	A490T	probably benign	Het
Pirb	A	T	7: 3,717,188 (GRCm38)	C395*	probably null	Het
Ppp1r11	T	C	17: 36,951,008 (GRCm38)	R12G	possibly damaging	Het
Prlr	A	G	15: 10,346,438 (GRCm38)	D290G	probably benign	Het
Ptpn21	G	T	12: 98,680,101 (GRCm38)	R1033S	probably damaging	Het
Rad54l2	A	G	9: 106,693,461 (GRCm38)	L1220P	possibly damaging	Het
Rufy3	G	A	5: 88,642,952 (GRCm38)	R504H	probably damaging	Het
Scgb2b21	C	T	7: 33,519,905 (GRCm38)	V25I	probably benign	Het
Sh3bgrl2	T	C	9: 83,548,489 (GRCm38)	S11P	possibly damaging	Het
Slain2	A	T	5: 72,974,659 (GRCm38)	T498S	probably benign	Het
Slc12a4	C	T	8: 105,955,715 (GRCm38)	G121S	probably damaging	Het
Slc30a9	A	T	5: 67,342,119 (GRCm38)	I307F	probably damaging	Het
Snap91	C	T	9: 86,773,545 (GRCm38)	G800R	unknown	Het
Tnc	G	T	4: 63,964,762 (GRCm38)		probably null	Het
Trav21-dv12	T	C	14: 53,876,057 (GRCm38)		probably benign	Het
Txk	A	T	5: 72,715,883 (GRCm38)	I228N	probably damaging	Het
Vac14	T	C	8: 110,711,620 (GRCm38)	Y622H	probably damaging	Het
Vmn2r111	T	C	17: 22,559,051 (GRCm38)	N549S	possibly damaging	Het
Wdr35	T	G	12: 8,987,312 (GRCm38)	M306R	probably benign	Het
Zan	A	T	5: 137,465,232 (GRCm38)	S562T	probably benign	Het

Other mutations in Gpatch2l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02335:Gpatch2l	APN	12	86,256,937 (GRCm38)	splice site	probably benign
IGL02458:Gpatch2l	APN	12	86,288,961 (GRCm38)	utr 3 prime	probably benign
IGL03131:Gpatch2l	APN	12	86,281,511 (GRCm38)	missense	probably benign	0.00
R0546:Gpatch2l	UTSW	12	86,288,848 (GRCm38)	makesense	probably null
R1349:Gpatch2l	UTSW	12	86,260,709 (GRCm38)	missense	possibly damaging	0.94
R1368:Gpatch2l	UTSW	12	86,260,665 (GRCm38)	missense	possibly damaging	0.73
R1600:Gpatch2l	UTSW	12	86,256,934 (GRCm38)	critical splice donor site	probably null
R1701:Gpatch2l	UTSW	12	86,288,952 (GRCm38)	missense	probably benign	0.00
R2656:Gpatch2l	UTSW	12	86,288,810 (GRCm38)	missense	probably damaging	1.00
R3149:Gpatch2l	UTSW	12	86,244,315 (GRCm38)	missense	possibly damaging	0.76
R3150:Gpatch2l	UTSW	12	86,244,315 (GRCm38)	missense	possibly damaging	0.76
R3176:Gpatch2l	UTSW	12	86,244,315 (GRCm38)	missense	possibly damaging	0.76
R3177:Gpatch2l	UTSW	12	86,244,315 (GRCm38)	missense	possibly damaging	0.76
R3276:Gpatch2l	UTSW	12	86,244,315 (GRCm38)	missense	possibly damaging	0.76
R3277:Gpatch2l	UTSW	12	86,244,315 (GRCm38)	missense	possibly damaging	0.76
R4342:Gpatch2l	UTSW	12	86,260,679 (GRCm38)	missense	probably benign	0.00
R5161:Gpatch2l	UTSW	12	86,267,176 (GRCm38)	missense	probably benign	0.17
R5712:Gpatch2l	UTSW	12	86,244,480 (GRCm38)	missense	probably damaging	1.00
R6343:Gpatch2l	UTSW	12	86,260,605 (GRCm38)	nonsense	probably null
R6899:Gpatch2l	UTSW	12	86,244,184 (GRCm38)	missense	probably damaging	1.00
R6910:Gpatch2l	UTSW	12	86,244,184 (GRCm38)	missense	probably damaging	1.00
R6911:Gpatch2l	UTSW	12	86,244,184 (GRCm38)	missense	probably damaging	1.00
R6912:Gpatch2l	UTSW	12	86,244,184 (GRCm38)	missense	probably damaging	1.00
R6917:Gpatch2l	UTSW	12	86,244,184 (GRCm38)	missense	probably damaging	1.00
R6930:Gpatch2l	UTSW	12	86,244,184 (GRCm38)	missense	probably damaging	1.00
R6994:Gpatch2l	UTSW	12	86,244,184 (GRCm38)	missense	probably damaging	1.00
R6995:Gpatch2l	UTSW	12	86,244,184 (GRCm38)	missense	probably damaging	1.00
R6996:Gpatch2l	UTSW	12	86,244,184 (GRCm38)	missense	probably damaging	1.00
R6998:Gpatch2l	UTSW	12	86,244,184 (GRCm38)	missense	probably damaging	1.00
R6999:Gpatch2l	UTSW	12	86,244,184 (GRCm38)	missense	probably damaging	1.00
R7000:Gpatch2l	UTSW	12	86,244,184 (GRCm38)	missense	probably damaging	1.00
R7001:Gpatch2l	UTSW	12	86,244,184 (GRCm38)	missense	probably damaging	1.00
R7002:Gpatch2l	UTSW	12	86,244,184 (GRCm38)	missense	probably damaging	1.00
R7003:Gpatch2l	UTSW	12	86,244,184 (GRCm38)	missense	probably damaging	1.00
R7010:Gpatch2l	UTSW	12	86,244,184 (GRCm38)	missense	probably damaging	1.00
R7011:Gpatch2l	UTSW	12	86,244,184 (GRCm38)	missense	probably damaging	1.00
R7203:Gpatch2l	UTSW	12	86,288,937 (GRCm38)	missense	probably benign	0.40
R7239:Gpatch2l	UTSW	12	86,260,575 (GRCm38)	critical splice acceptor site	probably null
R7419:Gpatch2l	UTSW	12	86,265,251 (GRCm38)	critical splice donor site	probably null
R8231:Gpatch2l	UTSW	12	86,244,189 (GRCm38)	missense	probably damaging	1.00
R8876:Gpatch2l	UTSW	12	86,261,631 (GRCm38)	missense	probably damaging	0.99
R9189:Gpatch2l	UTSW	12	86,244,378 (GRCm38)	missense	probably benign	0.13
R9284:Gpatch2l	UTSW	12	86,244,109 (GRCm38)	missense	probably benign	0.01
R9432:Gpatch2l	UTSW	12	86,260,634 (GRCm38)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CCTTTTGAGGGCAGGATGGATAAG -3'
(R):5'- GAACCAAGAGTGCTTTGCCAG -3'

Sequencing Primer
(F):5'- GCAGGATGGATAAGCTTTACCTG -3'
(R):5'- TTCCAGAGGACCACAGTTTG -3'

Posted On

2019-09-13