Mutagenetix > Incidental Mutation

Incidental Mutation 'R0355:Grid2ip'

29753

Institutional Source

Beutler Lab

Gene Symbol

Grid2ip

Ensembl Gene

ENSMUSG00000010825

Gene Name

glutamate receptor, ionotropic, delta 2 (Grid2) interacting protein 1

Synonyms

delphilin

MMRRC Submission

038561-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.119) question?

Stock #

R0355 (G1)

Quality Score

163

Status

Validated

Chromosome

Chromosomal Location

143357338-143392152 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 143357897 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 116 (D116V)

Ref Sequence

ENSEMBL: ENSMUSP00000106361 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110733]

AlphaFold

Q0QWG9

Predicted Effect

probably benign
Transcript: ENSMUST00000110733
AA Change: D116V

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000106361
Gene: ENSMUSG00000010825
AA Change: D116V

Domain	Start	End	E-Value	Type
PDZ	10	80	1.13e-13	SMART
low complexity region	98	109	N/A	INTRINSIC
low complexity region	209	234	N/A	INTRINSIC
low complexity region	236	252	N/A	INTRINSIC
low complexity region	257	271	N/A	INTRINSIC
PDZ	276	345	9.5e-16	SMART
low complexity region	435	451	N/A	INTRINSIC
low complexity region	463	483	N/A	INTRINSIC
low complexity region	608	625	N/A	INTRINSIC
low complexity region	643	657	N/A	INTRINSIC
low complexity region	715	763	N/A	INTRINSIC
low complexity region	786	804	N/A	INTRINSIC
FH2	812	1201	1.39e-35	SMART

Meta Mutation Damage Score

0.0912

Coding Region Coverage

1x: 99.0%
3x: 97.9%
10x: 95.3%
20x: 90.2%

Validation Efficiency

100% (76/76)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Glutamate receptor delta-2 (GRID2; MIM 602368) is predominantly expressed at parallel fiber-Purkinje cell postsynapses and plays crucial roles in synaptogenesis and synaptic plasticity. GRID2IP1 interacts with GRID2 and may control GRID2 signaling in Purkinje cells (Matsuda et al., 2006 [PubMed 16835239]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a knock-out allele display facilitated long-term depression induction at parallel fiber-Purkinje cell synapses as well as enhanced optokinetic response adaptation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	G	7: 120,423,798 (GRCm38)	I52M	possibly damaging	Het
Agbl5	G	T	5: 30,891,991 (GRCm38)		probably null	Het
Akt2	T	C	7: 27,636,909 (GRCm38)		probably benign	Het
Arl6ip5	T	A	6: 97,232,417 (GRCm38)	S138T	probably damaging	Het
Atp9b	A	G	18: 80,909,585 (GRCm38)		probably benign	Het
Ccdc144b	A	G	3: 36,046,905 (GRCm38)		probably benign	Het
Ccdc171	A	T	4: 83,635,682 (GRCm38)	N422Y	probably damaging	Het
Ccr5	C	T	9: 124,124,914 (GRCm38)	P185S	possibly damaging	Het
Cep63	G	T	9: 102,623,560 (GRCm38)	Q38K	probably benign	Het
Cgn	T	C	3: 94,774,932 (GRCm38)	S446G	probably benign	Het
Col16a1	T	A	4: 130,058,413 (GRCm38)		probably benign	Het
Csmd1	T	A	8: 15,918,330 (GRCm38)	Q3099L	probably damaging	Het
Dcc	G	A	18: 71,575,208 (GRCm38)	T479I	possibly damaging	Het
Dclre1a	A	G	19: 56,546,635 (GRCm38)		probably null	Het
Dlg1	T	A	16: 31,684,174 (GRCm38)	C66*	probably null	Het
Dnah12	T	A	14: 26,706,117 (GRCm38)		probably null	Het
Dnajb9	T	A	12: 44,207,204 (GRCm38)	H140L	probably damaging	Het
Dnase1	G	A	16: 4,039,549 (GRCm38)	V237M	probably damaging	Het
Dscam	C	A	16: 96,654,905 (GRCm38)	E1274D	probably benign	Het
Epb41	T	C	4: 132,000,261 (GRCm38)	H243R	probably damaging	Het
Evc	T	A	5: 37,316,312 (GRCm38)		probably benign	Het
Fcgrt	T	A	7: 45,103,069 (GRCm38)	M1L	unknown	Het
Flii	T	C	11: 60,719,680 (GRCm38)		probably null	Het
Gen1	A	G	12: 11,248,354 (GRCm38)		probably benign	Het
Gm10447	T	C	11: 53,456,430 (GRCm38)		probably benign	Het
Gm8674	A	T	13: 49,901,939 (GRCm38)		noncoding transcript	Het
Gpr137	G	C	19: 6,939,123 (GRCm38)	D253E	probably damaging	Het
Grin2c	A	G	11: 115,260,728 (GRCm38)		probably benign	Het
Havcr1	A	G	11: 46,756,224 (GRCm38)	T162A	possibly damaging	Het
Hspa1l	A	T	17: 34,977,410 (GRCm38)	T142S	probably benign	Het
Ift140	T	A	17: 25,048,435 (GRCm38)	Y602*	probably null	Het
Il18	T	A	9: 50,579,275 (GRCm38)		probably benign	Het
Ilf3	T	C	9: 21,397,970 (GRCm38)	V474A	probably damaging	Het
Inppl1	T	C	7: 101,827,457 (GRCm38)	Y771C	probably damaging	Het
Ints2	T	C	11: 86,234,749 (GRCm38)	T542A	probably benign	Het
Ipo7	T	C	7: 110,049,661 (GRCm38)	Y714H	probably benign	Het
Itgbl1	T	A	14: 123,840,585 (GRCm38)	C162*	probably null	Het
Kcp	T	C	6: 29,496,927 (GRCm38)	H561R	possibly damaging	Het
Krt23	G	T	11: 99,485,787 (GRCm38)	T181N	probably benign	Het
Lrrc40	A	T	3: 158,040,471 (GRCm38)	D61V	probably damaging	Het
Lypd4	T	A	7: 24,865,266 (GRCm38)	H149L	probably benign	Het
Map3k4	A	G	17: 12,254,171 (GRCm38)	F953L	probably damaging	Het
Mctp1	C	T	13: 76,824,863 (GRCm38)	P405S	probably damaging	Het
Mfsd2a	G	A	4: 122,951,839 (GRCm38)	T173I	possibly damaging	Het
Mtus1	T	C	8: 41,082,928 (GRCm38)	T584A	probably benign	Het
Nell2	A	G	15: 95,432,901 (GRCm38)	V213A	probably benign	Het
Nipsnap1	G	A	11: 4,889,957 (GRCm38)	G226E	probably damaging	Het
Nudt15	T	C	14: 73,523,384 (GRCm38)	Y89C	probably damaging	Het
Olfr1341	T	A	4: 118,709,611 (GRCm38)	M68K	probably benign	Het
Olfr1353	T	G	10: 78,970,433 (GRCm38)	S261R	probably damaging	Het
Olfr63	T	A	17: 33,269,135 (GRCm38)	M137K	probably damaging	Het
Olfr978	T	A	9: 39,994,163 (GRCm38)	S118T	possibly damaging	Het
Phf24	A	C	4: 42,933,891 (GRCm38)	E91A	probably damaging	Het
Plbd1	T	A	6: 136,641,167 (GRCm38)	N17I	possibly damaging	Het
Por	C	T	5: 135,732,584 (GRCm38)	S308L	probably benign	Het
Prmt8	T	A	6: 127,711,874 (GRCm38)	K178*	probably null	Het
Rev3l	A	G	10: 39,817,286 (GRCm38)	N454S	probably damaging	Het
Rps6ka2	T	C	17: 7,271,610 (GRCm38)	V309A	probably benign	Het
Slc15a5	A	G	6: 138,018,114 (GRCm38)		probably benign	Het
Slc30a6	G	A	17: 74,423,203 (GRCm38)	V363I	probably benign	Het
Snf8	G	A	11: 96,039,299 (GRCm38)	M42I	probably benign	Het
Stom	T	C	2: 35,325,359 (GRCm38)	I65V	probably benign	Het
Tacr3	C	T	3: 134,932,228 (GRCm38)	T382I	probably benign	Het
Tenm3	A	G	8: 48,228,975 (GRCm38)	V2540A	probably damaging	Het
Trabd	A	G	15: 89,085,613 (GRCm38)	T314A	possibly damaging	Het
Tyk2	T	C	9: 21,114,190 (GRCm38)		probably null	Het
Ube4a	T	C	9: 44,944,801 (GRCm38)		probably benign	Het
Unc80	A	G	1: 66,549,856 (GRCm38)	H1060R	possibly damaging	Het
Virma	A	T	4: 11,528,626 (GRCm38)	K1288*	probably null	Het
Vmn2r100	A	C	17: 19,531,320 (GRCm38)	I542L	probably benign	Het
Vwde	T	C	6: 13,187,807 (GRCm38)		probably benign	Het
Zfc3h1	T	C	10: 115,409,113 (GRCm38)	I797T	possibly damaging	Het
Zfp74	C	T	7: 29,954,041 (GRCm38)		probably benign	Het
Zkscan7	T	A	9: 122,888,807 (GRCm38)	L89Q	probably damaging	Het

Other mutations in Grid2ip

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02271:Grid2ip	APN	5	143,388,909 (GRCm38)	missense	probably benign
IGL02894:Grid2ip	APN	5	143,391,108 (GRCm38)	missense	probably benign	0.04
R0024:Grid2ip	UTSW	5	143,391,041 (GRCm38)	missense	probably damaging	1.00
R0403:Grid2ip	UTSW	5	143,357,620 (GRCm38)	missense	possibly damaging	0.84
R0523:Grid2ip	UTSW	5	143,373,043 (GRCm38)	missense	possibly damaging	0.85
R0605:Grid2ip	UTSW	5	143,379,362 (GRCm38)	missense	probably damaging	0.99
R0664:Grid2ip	UTSW	5	143,363,977 (GRCm38)	critical splice donor site	probably null
R1116:Grid2ip	UTSW	5	143,382,914 (GRCm38)	missense	possibly damaging	0.96
R1251:Grid2ip	UTSW	5	143,386,015 (GRCm38)	missense	possibly damaging	0.69
R1381:Grid2ip	UTSW	5	143,362,651 (GRCm38)	missense	probably benign	0.00
R1384:Grid2ip	UTSW	5	143,386,096 (GRCm38)	critical splice donor site	probably null
R1477:Grid2ip	UTSW	5	143,375,585 (GRCm38)	missense	probably damaging	1.00
R2266:Grid2ip	UTSW	5	143,386,092 (GRCm38)	missense	probably benign	0.01
R2267:Grid2ip	UTSW	5	143,386,092 (GRCm38)	missense	probably benign	0.01
R2304:Grid2ip	UTSW	5	143,387,840 (GRCm38)	missense	probably damaging	1.00
R2871:Grid2ip	UTSW	5	143,357,929 (GRCm38)	missense	probably benign
R2871:Grid2ip	UTSW	5	143,357,929 (GRCm38)	missense	probably benign
R2873:Grid2ip	UTSW	5	143,357,929 (GRCm38)	missense	probably benign
R2874:Grid2ip	UTSW	5	143,357,929 (GRCm38)	missense	probably benign
R3196:Grid2ip	UTSW	5	143,388,178 (GRCm38)	missense	probably damaging	0.99
R3622:Grid2ip	UTSW	5	143,386,019 (GRCm38)	missense	probably damaging	1.00
R3930:Grid2ip	UTSW	5	143,386,039 (GRCm38)	missense	probably damaging	1.00
R4628:Grid2ip	UTSW	5	143,382,875 (GRCm38)	missense	probably damaging	1.00
R4696:Grid2ip	UTSW	5	143,391,376 (GRCm38)	intron	probably benign
R4709:Grid2ip	UTSW	5	143,388,903 (GRCm38)	missense	probably damaging	1.00
R4772:Grid2ip	UTSW	5	143,375,700 (GRCm38)	missense	possibly damaging	0.91
R4838:Grid2ip	UTSW	5	143,388,775 (GRCm38)	nonsense	probably null
R4857:Grid2ip	UTSW	5	143,382,629 (GRCm38)	missense	probably damaging	1.00
R5243:Grid2ip	UTSW	5	143,377,505 (GRCm38)	missense	probably damaging	1.00
R5894:Grid2ip	UTSW	5	143,388,911 (GRCm38)	missense	probably damaging	1.00
R6014:Grid2ip	UTSW	5	143,387,823 (GRCm38)	missense	possibly damaging	0.84
R6076:Grid2ip	UTSW	5	143,387,375 (GRCm38)	missense	probably benign	0.17
R6209:Grid2ip	UTSW	5	143,380,429 (GRCm38)	missense	probably damaging	1.00
R6257:Grid2ip	UTSW	5	143,380,429 (GRCm38)	missense	probably damaging	1.00
R6274:Grid2ip	UTSW	5	143,380,429 (GRCm38)	missense	probably damaging	1.00
R6439:Grid2ip	UTSW	5	143,373,502 (GRCm38)	missense	probably damaging	0.99
R7098:Grid2ip	UTSW	5	143,357,591 (GRCm38)	missense	probably damaging	0.97
R7405:Grid2ip	UTSW	5	143,380,444 (GRCm38)	missense	probably benign	0.03
R7652:Grid2ip	UTSW	5	143,382,638 (GRCm38)	missense	probably damaging	1.00
R8259:Grid2ip	UTSW	5	143,362,589 (GRCm38)	missense	probably benign	0.20
R8261:Grid2ip	UTSW	5	143,381,940 (GRCm38)	critical splice donor site	probably null
R8350:Grid2ip	UTSW	5	143,377,518 (GRCm38)	missense	probably damaging	1.00
R8391:Grid2ip	UTSW	5	143,380,196 (GRCm38)	missense	probably damaging	0.98
R8450:Grid2ip	UTSW	5	143,377,518 (GRCm38)	missense	probably damaging	1.00
R8793:Grid2ip	UTSW	5	143,377,641 (GRCm38)	missense	probably damaging	1.00
R8851:Grid2ip	UTSW	5	143,362,597 (GRCm38)	missense	possibly damaging	0.94
R8944:Grid2ip	UTSW	5	143,380,505 (GRCm38)	critical splice donor site	probably null
R9022:Grid2ip	UTSW	5	143,380,449 (GRCm38)	missense	probably benign	0.02
R9227:Grid2ip	UTSW	5	143,373,439 (GRCm38)	missense	probably damaging	0.99
R9230:Grid2ip	UTSW	5	143,373,439 (GRCm38)	missense	probably damaging	0.99
R9382:Grid2ip	UTSW	5	143,375,348 (GRCm38)	critical splice donor site	probably null
R9425:Grid2ip	UTSW	5	143,381,680 (GRCm38)	missense
X0010:Grid2ip	UTSW	5	143,357,878 (GRCm38)	missense	probably benign	0.01
X0012:Grid2ip	UTSW	5	143,362,639 (GRCm38)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TGAGCCGAGAGCGCATCGTG -3'
(R):5'- GGACCTGTCTATCATCTGACTATCTGCC -3'

Sequencing Primer
(F):5'- TTGACAGCAGCCTGGCTAA -3'
(R):5'- ctgactatctgcctgctatctac -3'

Posted On

2013-04-24