Mutagenetix > Incidental Mutation

Incidental Mutation 'R6899:Gpatch2l'

541028

Institutional Source

Beutler Lab

Gene Symbol

Gpatch2l

Ensembl Gene

ENSMUSG00000021254

Gene Name

G patch domain containing 2 like

Synonyms

1700020O03Rik

MMRRC Submission

044993-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6899 (G1)

Quality Score

215.009

Status

Validated

Chromosome

Chromosomal Location

86288632-86338558 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 86290958 bp (GRCm39)

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: 99.0%
20x: 95.9%

Validation Efficiency

98% (56/57)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	G	7: 120,126,264 (GRCm39)	Y1140C	probably damaging	Het
Actl9	G	A	17: 33,652,533 (GRCm39)	G198S	probably damaging	Het
Adcy2	A	T	13: 69,130,500 (GRCm39)	M129K	probably damaging	Het
Apmap	T	A	2: 150,436,228 (GRCm39)	I107F	probably benign	Het
Arrdc3	T	C	13: 81,037,330 (GRCm39)	I162T	probably damaging	Het
Asprv1	T	C	6: 86,605,742 (GRCm39)	L196P	probably damaging	Het
Atpsckmt	A	G	15: 31,617,257 (GRCm39)	S163G	probably benign	Het
Bag2	A	G	1: 33,785,912 (GRCm39)	S137P	possibly damaging	Het
Borcs5	T	A	6: 134,687,173 (GRCm39)	M177K	probably benign	Het
C8b	A	T	4: 104,644,071 (GRCm39)	K246M	probably benign	Het
Cdo1	A	G	18: 46,856,407 (GRCm39)	C76R	probably damaging	Het
Ces2b	T	A	8: 105,563,398 (GRCm39)		probably null	Het
Csf2rb	G	A	15: 78,224,902 (GRCm39)	S194N	probably benign	Het
Dap3	A	G	3: 88,840,907 (GRCm39)	F77L	probably benign	Het
Dars1	A	G	1: 128,341,483 (GRCm39)	V44A	possibly damaging	Het
Dhtkd1	T	A	2: 5,922,776 (GRCm39)	D461V	possibly damaging	Het
Ero1a	A	C	14: 45,530,396 (GRCm39)	H345Q	probably benign	Het
Fzd8	T	A	18: 9,214,729 (GRCm39)	S604T	probably damaging	Het
Gramd1c	T	A	16: 43,860,505 (GRCm39)	Y64F	probably benign	Het
Heatr5b	T	A	17: 79,110,938 (GRCm39)	Y970F	probably benign	Het
Hoxc10	A	G	15: 102,875,942 (GRCm39)	E217G	possibly damaging	Het
Hsd17b14	A	T	7: 45,212,352 (GRCm39)	H128L	possibly damaging	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Ifna9	A	G	4: 88,510,300 (GRCm39)	F108S	probably damaging	Het
Ikbke	A	G	1: 131,203,499 (GRCm39)	V58A	probably damaging	Het
Inpp5e	G	A	2: 26,290,060 (GRCm39)	R462C	possibly damaging	Het
Junb	A	G	8: 85,704,353 (GRCm39)	F236L	probably benign	Het
Klhl36	T	C	8: 120,596,881 (GRCm39)	V194A	probably benign	Het
Lsg1	A	T	16: 30,400,906 (GRCm39)	D134E	probably benign	Het
Megf8	G	T	7: 25,060,138 (GRCm39)	C2343F	probably damaging	Het
Mtres1	T	C	10: 43,408,780 (GRCm39)	E121G	possibly damaging	Het
Myom3	G	A	4: 135,530,603 (GRCm39)	G1172R	probably damaging	Het
Nasp	A	T	4: 116,461,530 (GRCm39)	V548E	probably damaging	Het
Nubpl	T	A	12: 52,357,536 (GRCm39)	S317T	probably benign	Het
Nup210l	A	G	3: 90,075,204 (GRCm39)	D838G	possibly damaging	Het
Oxsr1	C	T	9: 119,076,188 (GRCm39)	A373T	probably benign	Het
Psat1	C	T	19: 15,895,569 (GRCm39)		probably null	Het
Rsrc1	C	T	3: 66,901,982 (GRCm39)	P44L	unknown	Het
Slain1	C	T	14: 103,888,215 (GRCm39)	P45L	possibly damaging	Het
Slc16a8	A	G	15: 79,137,949 (GRCm39)	V20A	possibly damaging	Het
Slc22a13	A	T	9: 119,025,473 (GRCm39)	M145K	probably damaging	Het
Slc22a4	G	A	11: 53,879,739 (GRCm39)	T440I	probably damaging	Het
Slc39a12	C	T	2: 14,394,352 (GRCm39)	P74L	probably damaging	Het
Sod3	A	G	5: 52,526,050 (GRCm39)	T250A	unknown	Het
Syne2	A	G	12: 76,142,503 (GRCm39)		probably null	Het
Tctn1	A	G	5: 122,387,019 (GRCm39)	Y299H	probably damaging	Het
Tfcp2l1	A	G	1: 118,603,305 (GRCm39)	M448V	probably benign	Het
Tfpi	C	T	2: 84,275,153 (GRCm39)	G152S	probably damaging	Het
Thap4	A	G	1: 93,678,691 (GRCm39)	S32P	probably damaging	Het
Tmem132c	T	A	5: 127,628,744 (GRCm39)	W549R	probably damaging	Het
Vmn2r29	T	C	7: 7,244,641 (GRCm39)	E411G	probably damaging	Het
Washc4	C	A	10: 83,411,919 (GRCm39)	D683E	probably benign	Het
Wdr3	A	T	3: 100,057,217 (GRCm39)	V462D	possibly damaging	Het
Wdr5b	T	C	16: 35,862,150 (GRCm39)	S90P	probably damaging	Het
Zfp407	A	G	18: 84,579,559 (GRCm39)	L518P	possibly damaging	Het
Zfp53	A	G	17: 21,728,707 (GRCm39)	I247V	possibly damaging	Het

Other mutations in Gpatch2l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02335:Gpatch2l	APN	12	86,303,711 (GRCm39)	splice site	probably benign
IGL02458:Gpatch2l	APN	12	86,335,735 (GRCm39)	utr 3 prime	probably benign
IGL03131:Gpatch2l	APN	12	86,328,285 (GRCm39)	missense	probably benign	0.00
R0546:Gpatch2l	UTSW	12	86,335,622 (GRCm39)	makesense	probably null
R1349:Gpatch2l	UTSW	12	86,307,483 (GRCm39)	missense	possibly damaging	0.94
R1368:Gpatch2l	UTSW	12	86,307,439 (GRCm39)	missense	possibly damaging	0.73
R1600:Gpatch2l	UTSW	12	86,303,708 (GRCm39)	critical splice donor site	probably null
R1701:Gpatch2l	UTSW	12	86,335,726 (GRCm39)	missense	probably benign	0.00
R2656:Gpatch2l	UTSW	12	86,335,584 (GRCm39)	missense	probably damaging	1.00
R3149:Gpatch2l	UTSW	12	86,291,089 (GRCm39)	missense	possibly damaging	0.76
R3150:Gpatch2l	UTSW	12	86,291,089 (GRCm39)	missense	possibly damaging	0.76
R3176:Gpatch2l	UTSW	12	86,291,089 (GRCm39)	missense	possibly damaging	0.76
R3177:Gpatch2l	UTSW	12	86,291,089 (GRCm39)	missense	possibly damaging	0.76
R3276:Gpatch2l	UTSW	12	86,291,089 (GRCm39)	missense	possibly damaging	0.76
R3277:Gpatch2l	UTSW	12	86,291,089 (GRCm39)	missense	possibly damaging	0.76
R4342:Gpatch2l	UTSW	12	86,307,453 (GRCm39)	missense	probably benign	0.00
R5161:Gpatch2l	UTSW	12	86,313,950 (GRCm39)	missense	probably benign	0.17
R5712:Gpatch2l	UTSW	12	86,291,254 (GRCm39)	missense	probably damaging	1.00
R6343:Gpatch2l	UTSW	12	86,307,379 (GRCm39)	nonsense	probably null
R6910:Gpatch2l	UTSW	12	86,290,958 (GRCm39)	missense	probably damaging	1.00
R6911:Gpatch2l	UTSW	12	86,290,958 (GRCm39)	missense	probably damaging	1.00
R6912:Gpatch2l	UTSW	12	86,290,958 (GRCm39)	missense	probably damaging	1.00
R6917:Gpatch2l	UTSW	12	86,290,958 (GRCm39)	missense	probably damaging	1.00
R6930:Gpatch2l	UTSW	12	86,290,958 (GRCm39)	missense	probably damaging	1.00
R6994:Gpatch2l	UTSW	12	86,290,958 (GRCm39)	missense	probably damaging	1.00
R6995:Gpatch2l	UTSW	12	86,290,958 (GRCm39)	missense	probably damaging	1.00
R6996:Gpatch2l	UTSW	12	86,290,958 (GRCm39)	missense	probably damaging	1.00
R6998:Gpatch2l	UTSW	12	86,290,958 (GRCm39)	missense	probably damaging	1.00
R6999:Gpatch2l	UTSW	12	86,290,958 (GRCm39)	missense	probably damaging	1.00
R7000:Gpatch2l	UTSW	12	86,290,958 (GRCm39)	missense	probably damaging	1.00
R7001:Gpatch2l	UTSW	12	86,290,958 (GRCm39)	missense	probably damaging	1.00
R7002:Gpatch2l	UTSW	12	86,290,958 (GRCm39)	missense	probably damaging	1.00
R7003:Gpatch2l	UTSW	12	86,290,958 (GRCm39)	missense	probably damaging	1.00
R7010:Gpatch2l	UTSW	12	86,290,958 (GRCm39)	missense	probably damaging	1.00
R7011:Gpatch2l	UTSW	12	86,290,958 (GRCm39)	missense	probably damaging	1.00
R7203:Gpatch2l	UTSW	12	86,335,711 (GRCm39)	missense	probably benign	0.40
R7239:Gpatch2l	UTSW	12	86,307,349 (GRCm39)	critical splice acceptor site	probably null
R7327:Gpatch2l	UTSW	12	86,303,646 (GRCm39)	missense	probably damaging	1.00
R7419:Gpatch2l	UTSW	12	86,312,025 (GRCm39)	critical splice donor site	probably null
R8231:Gpatch2l	UTSW	12	86,290,963 (GRCm39)	missense	probably damaging	1.00
R8876:Gpatch2l	UTSW	12	86,308,405 (GRCm39)	missense	probably damaging	0.99
R9189:Gpatch2l	UTSW	12	86,291,152 (GRCm39)	missense	probably benign	0.13
R9284:Gpatch2l	UTSW	12	86,290,883 (GRCm39)	missense	probably benign	0.01
R9432:Gpatch2l	UTSW	12	86,307,408 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TAACATGACTGGAAGCGCAG -3'
(R):5'- ATGATGGCACTGAGAGCTG -3'

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

Posted On

2018-11-28