Mutagenetix > Incidental Mutation

Incidental Mutation 'R1701:Gpatch2l'

189750

Institutional Source

Beutler Lab

Gene Symbol

Gpatch2l

Ensembl Gene

ENSMUSG00000021254

Gene Name

G patch domain containing 2 like

Synonyms

1700020O03Rik

MMRRC Submission

039734-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1701 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

86288632-86338558 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86335726 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 476 (S476G)

Ref Sequence

ENSEMBL: ENSMUSP00000152284 (fasta)

Gene Model

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

AlphaFold

Q6PE65

Predicted Effect

probably benign
Transcript: ENSMUST00000071106

SMART Domains

Protein: ENSMUSP00000065858
Gene: ENSMUSG00000021254

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

noncoding transcript
Transcript: ENSMUST00000181495

Predicted Effect

probably benign
Transcript: ENSMUST00000221368
AA Change: S476G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl3	A	G	4: 144,190,142 (GRCm39)	L53P	probably damaging	Het
Acadsb	T	A	7: 131,026,213 (GRCm39)	F19I	probably benign	Het
Aldh3a2	C	T	11: 61,147,598 (GRCm39)	G303S	probably damaging	Het
Anks1b	T	C	10: 89,885,816 (GRCm39)	Y171H	probably damaging	Het
Anxa7	A	T	14: 20,510,229 (GRCm39)	I385N	probably damaging	Het
Astn1	A	T	1: 158,331,877 (GRCm39)	T324S	possibly damaging	Het
Ccdc88a	T	C	11: 29,427,427 (GRCm39)	V235A	possibly damaging	Het
Crhr2	T	C	6: 55,076,255 (GRCm39)	K258R	probably damaging	Het
Ctnnd1	T	C	2: 84,439,335 (GRCm39)	E786G	probably damaging	Het
Ctnnd2	G	A	15: 30,922,127 (GRCm39)	D918N	probably damaging	Het
Dnah9	A	G	11: 65,802,750 (GRCm39)	S200P	probably damaging	Het
Dot1l	T	C	10: 80,626,576 (GRCm39)	S1266P	possibly damaging	Het
Efemp1	A	G	11: 28,871,750 (GRCm39)	T422A	possibly damaging	Het
Fam135b	T	C	15: 71,331,578 (GRCm39)	H1137R	probably damaging	Het
Flot2	C	T	11: 77,940,373 (GRCm39)	S40L	possibly damaging	Het
Fras1	G	A	5: 96,748,643 (GRCm39)	S706N	probably benign	Het
Gbf1	T	C	19: 46,250,114 (GRCm39)	L357P	probably damaging	Het
Hbb-bh2	T	C	7: 103,489,450 (GRCm39)	T34A	probably benign	Het
Ints8	A	G	4: 11,231,656 (GRCm39)	L443P	probably damaging	Het
Intu	T	A	3: 40,618,694 (GRCm39)	D233E	probably damaging	Het
Itprid2	A	G	2: 79,466,394 (GRCm39)	K75E	probably damaging	Het
Kctd1	T	A	18: 15,102,617 (GRCm39)	I259L	possibly damaging	Het
Lama5	A	G	2: 179,863,162 (GRCm39)	C108R	probably damaging	Het
Lgals3bp	T	C	11: 118,284,781 (GRCm39)	Y266C	probably damaging	Het
Lrig2	T	C	3: 104,401,993 (GRCm39)	I111V	probably benign	Het
Mtcl2	T	C	2: 156,872,539 (GRCm39)	N936S	probably damaging	Het
Myh8	G	T	11: 67,170,964 (GRCm39)	C125F	probably damaging	Het
Or2d3c	C	A	7: 106,526,129 (GRCm39)	C179F	probably damaging	Het
Or2h2	C	T	17: 37,396,623 (GRCm39)	V145M	probably benign	Het
Or51a10	T	C	7: 103,699,402 (GRCm39)	E53G	possibly damaging	Het
Or5ac21	T	C	16: 59,123,651 (GRCm39)	I46T	probably benign	Het
Or5p76	T	G	7: 108,122,731 (GRCm39)	Q142P	probably benign	Het
Or5w16	T	A	2: 87,576,894 (GRCm39)	M118K	probably damaging	Het
Or6c202	T	C	10: 128,995,974 (GRCm39)	Q293R	probably damaging	Het
Or8g4	A	T	9: 39,662,365 (GRCm39)	I228F	probably damaging	Het
Pate8	A	G	9: 36,493,114 (GRCm39)		probably benign	Het
Phc2	C	T	4: 128,645,400 (GRCm39)	P836S	probably damaging	Het
Pla2g7	T	C	17: 43,911,415 (GRCm39)	F189S	probably damaging	Het
Ptprk	A	G	10: 28,342,054 (GRCm39)	D487G	probably damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rad54l2	A	G	9: 106,577,692 (GRCm39)		probably null	Het
Robo4	G	T	9: 37,314,739 (GRCm39)	V198L	probably benign	Het
Selenbp1	C	A	3: 94,844,701 (GRCm39)	H119Q	probably damaging	Het
Slc25a13	T	C	6: 6,152,525 (GRCm39)		probably null	Het
Slc35f5	A	G	1: 125,498,330 (GRCm39)	E176G	possibly damaging	Het
Sphkap	G	A	1: 83,255,236 (GRCm39)	R838*	probably null	Het
Tenm4	G	A	7: 96,552,096 (GRCm39)	V2512M	probably damaging	Het
Tmc8	A	G	11: 117,682,188 (GRCm39)		probably null	Het
Trim30d	C	T	7: 104,133,389 (GRCm39)	W21*	probably null	Het
Ube3c	G	A	5: 29,806,200 (GRCm39)	V281I	probably benign	Het
Usp17ld	T	C	7: 102,899,783 (GRCm39)	K383R	probably benign	Het
Vmn1r172	A	T	7: 23,359,529 (GRCm39)	Y138F	probably damaging	Het
Vmn1r180	T	C	7: 23,652,395 (GRCm39)	V186A	possibly damaging	Het
Vmn2r25	T	A	6: 123,828,754 (GRCm39)		probably null	Het
Vmn2r61	T	C	7: 41,949,935 (GRCm39)	F785S	probably damaging	Het
Zfp141	T	A	7: 42,125,470 (GRCm39)	Y334F	probably benign	Het
Zfp609	T	C	9: 65,638,282 (GRCm39)	I317V	probably benign	Het
Zfp879	A	G	11: 50,724,060 (GRCm39)	I259T	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
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
R6899:Gpatch2l	UTSW	12	86,290,958 (GRCm39)	missense	probably damaging	1.00
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'- TATAAAGATTAGCCACCGCCGCCG -3'
(R):5'- TGCCCCACCCACTTAAGGAAAATTG -3'

Sequencing Primer
(F):5'- cctcttcctcctcctcttcttc -3'
(R):5'- TCAGTCCTTGTGGCATTAGG -3'

Posted On

2014-05-14