Mutagenetix > Incidental Mutation

Incidental Mutation 'R4628:Grid2ip'

348941

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

041893-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.118) question?

Stock #

R4628 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

143343085-143377534 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 143368630 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 650 (V650A)

Ref Sequence

ENSEMBL: ENSMUSP00000113443 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000010969] [ENSMUST00000110733] [ENSMUST00000120825]

AlphaFold

Q0QWG9

Predicted Effect

probably damaging
Transcript: ENSMUST00000010969
AA Change: V643A

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

SMART Domains

Protein: ENSMUSP00000010969
Gene: ENSMUSG00000010825
AA Change: V643A

Domain	Start	End	E-Value	Type
low complexity region	30	55	N/A	INTRINSIC
low complexity region	57	73	N/A	INTRINSIC
low complexity region	78	92	N/A	INTRINSIC
PDZ	97	166	9.5e-16	SMART
low complexity region	256	272	N/A	INTRINSIC
low complexity region	284	304	N/A	INTRINSIC
low complexity region	429	446	N/A	INTRINSIC
low complexity region	464	478	N/A	INTRINSIC
low complexity region	536	584	N/A	INTRINSIC
low complexity region	607	625	N/A	INTRINSIC
FH2	633	1022	1.39e-35	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000110733
AA Change: V822A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000106361
Gene: ENSMUSG00000010825
AA Change: V822A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000120825
AA Change: V650A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113443
Gene: ENSMUSG00000010825
AA Change: V650A

Domain	Start	End	E-Value	Type
low complexity region	37	62	N/A	INTRINSIC
low complexity region	64	80	N/A	INTRINSIC
low complexity region	85	99	N/A	INTRINSIC
PDZ	104	173	9.5e-16	SMART
low complexity region	263	279	N/A	INTRINSIC
low complexity region	291	311	N/A	INTRINSIC
low complexity region	436	453	N/A	INTRINSIC
low complexity region	471	485	N/A	INTRINSIC
low complexity region	543	591	N/A	INTRINSIC
low complexity region	614	632	N/A	INTRINSIC
FH2	640	1029	1.39e-35	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138948

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	G	T	10: 79,851,022 (GRCm39)		probably null	Het
Abcb4	A	G	5: 8,957,399 (GRCm39)	D176G	probably benign	Het
Adamts18	C	T	8: 114,499,800 (GRCm39)	W371*	probably null	Het
Akr1c13	G	T	13: 4,247,869 (GRCm39)	V214F	probably damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Ankrd12	T	C	17: 66,292,989 (GRCm39)	T815A	probably benign	Het
Arid3a	T	C	10: 79,766,992 (GRCm39)	S89P	possibly damaging	Het
Ass1	A	T	2: 31,371,000 (GRCm39)	D63V	probably damaging	Het
Atxn3	T	A	12: 101,889,337 (GRCm39)		probably benign	Het
Bcap29	C	T	12: 31,676,806 (GRCm39)	S88N	probably benign	Het
Bsn	G	T	9: 107,990,434 (GRCm39)	P1773T	probably damaging	Het
Ccdc141	A	G	2: 76,890,024 (GRCm39)	S423P	probably benign	Het
Cfap46	A	T	7: 139,260,843 (GRCm39)	L85Q	probably damaging	Het
Chd8	T	C	14: 52,444,372 (GRCm39)	R438G	probably benign	Het
Chd9	T	A	8: 91,710,091 (GRCm39)	M289K	probably benign	Het
Col14a1	T	A	15: 55,313,229 (GRCm39)	Y26*	probably null	Het
Colec10	A	G	15: 54,323,127 (GRCm39)	T117A	possibly damaging	Het
Colq	C	A	14: 31,265,979 (GRCm39)	G178V	probably damaging	Het
Defb3	A	T	8: 19,345,156 (GRCm39)	R37S	probably benign	Het
Duox1	A	G	2: 122,176,733 (GRCm39)	Y1418C	probably damaging	Het
Engase	C	T	11: 118,375,731 (GRCm39)	S33F	probably damaging	Het
Erich3	A	T	3: 154,469,324 (GRCm39)	T1259S	probably damaging	Het
Fam98c	T	C	7: 28,854,693 (GRCm39)	T49A	possibly damaging	Het
Fhod3	T	A	18: 25,253,186 (GRCm39)	F1379I	possibly damaging	Het
Fndc3b	T	C	3: 27,610,277 (GRCm39)	I86V	probably benign	Het
Gm1123	A	G	9: 98,896,289 (GRCm39)	V197A	probably damaging	Het
Gm4847	A	T	1: 166,457,964 (GRCm39)	V463E	probably damaging	Het
Gm9772	T	C	17: 22,226,188 (GRCm39)	K32R	probably damaging	Het
Gm9804	T	C	12: 49,448,540 (GRCm39)	S161P	unknown	Het
Gpr162	C	T	6: 124,838,405 (GRCm39)	D82N	probably benign	Het
Hs1bp3	T	C	12: 8,386,357 (GRCm39)	V253A	probably benign	Het
Hsd3b6	T	G	3: 98,713,895 (GRCm39)	K135Q	possibly damaging	Het
Igfn1	T	C	1: 135,887,468 (GRCm39)	D2532G	possibly damaging	Het
Iqgap2	A	G	13: 95,899,837 (GRCm39)	Y74H	probably benign	Het
Itga2	A	G	13: 115,014,229 (GRCm39)	V233A	probably benign	Het
Kat14	A	G	2: 144,246,140 (GRCm39)		probably benign	Het
Kctd21	A	G	7: 96,996,782 (GRCm39)	D85G	probably damaging	Het
Kera	A	G	10: 97,445,493 (GRCm39)	N284S	probably benign	Het
Krt1	C	T	15: 101,754,622 (GRCm39)	G543S	unknown	Het
Lcmt1	T	A	7: 123,010,035 (GRCm39)	C183*	probably null	Het
Lcn5	A	G	2: 25,548,075 (GRCm39)	E28G	possibly damaging	Het
Leo1	A	T	9: 75,352,979 (GRCm39)	D174V	probably damaging	Het
Llgl1	A	T	11: 60,600,811 (GRCm39)	T636S	probably damaging	Het
Lrrc8e	T	A	8: 4,283,981 (GRCm39)	C69S	probably damaging	Het
Maml3	A	T	3: 51,703,891 (GRCm39)		probably benign	Het
Maz	G	T	7: 126,624,519 (GRCm39)	H334N	possibly damaging	Het
Mcm6	T	C	1: 128,279,285 (GRCm39)	D167G	probably benign	Het
Mrpl24	A	C	3: 87,829,436 (GRCm39)		probably null	Het
Myo18a	G	A	11: 77,714,962 (GRCm39)	V834M	probably damaging	Het
Neb	T	A	2: 52,198,362 (GRCm39)	R461*	probably null	Het
Notch4	C	A	17: 34,789,159 (GRCm39)	T486N	probably damaging	Het
Nphp3	A	G	9: 103,880,257 (GRCm39)	E93G	probably damaging	Het
Nup188	A	G	2: 30,219,358 (GRCm39)	Y858C	probably damaging	Het
Or13a17	T	A	7: 140,271,291 (GRCm39)	S158T	probably benign	Het
Or13a28	C	T	7: 140,218,297 (GRCm39)	R228C	probably benign	Het
Or1j11	T	A	2: 36,311,869 (GRCm39)	L153*	probably null	Het
Otud4	T	A	8: 80,366,597 (GRCm39)	D21E	possibly damaging	Het
Ovgp1	T	A	3: 105,887,639 (GRCm39)		probably null	Het
Pdia3	A	T	2: 121,244,620 (GRCm39)	N11I	possibly damaging	Het
Pex5	T	C	6: 124,380,079 (GRCm39)	D286G	possibly damaging	Het
Pias3	T	C	3: 96,607,136 (GRCm39)	I133T	probably damaging	Het
Postn	A	G	3: 54,279,578 (GRCm39)	D352G	probably damaging	Het
Prl7c1	T	C	13: 27,962,065 (GRCm39)	R81G	probably benign	Het
Rmi1	A	G	13: 58,556,950 (GRCm39)	R400G	probably benign	Het
Rtraf	T	A	14: 19,867,155 (GRCm39)	N116I	probably benign	Het
Semp2l2a	T	A	8: 13,886,625 (GRCm39)	R489W	probably damaging	Het
Slc6a12	T	A	6: 121,328,951 (GRCm39)	C50*	probably null	Het
Spring1	G	C	5: 118,397,479 (GRCm39)	A154P	probably damaging	Het
Srcin1	T	A	11: 97,439,752 (GRCm39)	H126L	probably benign	Het
Tmtc2	A	T	10: 105,139,511 (GRCm39)	S672T	probably benign	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Ube2c	A	G	2: 164,614,093 (GRCm39)	N143S	possibly damaging	Het
Uroc1	A	T	6: 90,332,310 (GRCm39)	I556F	probably damaging	Het
Vmn1r124	T	A	7: 20,994,302 (GRCm39)	K81*	probably null	Het
Vmn1r57	T	A	7: 5,223,972 (GRCm39)	C166S	probably damaging	Het
Vmn2r114	ATTT	ATT	17: 23,509,906 (GRCm39)		probably null	Het
Vmn2r68	A	G	7: 84,883,673 (GRCm39)	V144A	probably benign	Het
Vmn2r85	C	T	10: 130,261,235 (GRCm39)	M367I	probably benign	Het
Vwa3a	T	A	7: 120,392,598 (GRCm39)	N812K	probably benign	Het
Wdfy4	A	T	14: 32,824,515 (GRCm39)	N1301K	probably damaging	Het
Zfhx4	G	A	3: 5,468,536 (GRCm39)	R2898H	probably damaging	Het

Other mutations in Grid2ip

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02271:Grid2ip	APN	5	143,374,664 (GRCm39)	missense	probably benign
IGL02894:Grid2ip	APN	5	143,376,863 (GRCm39)	missense	probably benign	0.04
R0024:Grid2ip	UTSW	5	143,376,796 (GRCm39)	missense	probably damaging	1.00
R0355:Grid2ip	UTSW	5	143,343,652 (GRCm39)	missense	probably benign	0.10
R0403:Grid2ip	UTSW	5	143,343,375 (GRCm39)	missense	possibly damaging	0.84
R0523:Grid2ip	UTSW	5	143,358,798 (GRCm39)	missense	possibly damaging	0.85
R0605:Grid2ip	UTSW	5	143,365,117 (GRCm39)	missense	probably damaging	0.99
R0664:Grid2ip	UTSW	5	143,349,732 (GRCm39)	critical splice donor site	probably null
R1116:Grid2ip	UTSW	5	143,368,669 (GRCm39)	missense	possibly damaging	0.96
R1251:Grid2ip	UTSW	5	143,371,770 (GRCm39)	missense	possibly damaging	0.69
R1381:Grid2ip	UTSW	5	143,348,406 (GRCm39)	missense	probably benign	0.00
R1384:Grid2ip	UTSW	5	143,371,851 (GRCm39)	critical splice donor site	probably null
R1477:Grid2ip	UTSW	5	143,361,340 (GRCm39)	missense	probably damaging	1.00
R2266:Grid2ip	UTSW	5	143,371,847 (GRCm39)	missense	probably benign	0.01
R2267:Grid2ip	UTSW	5	143,371,847 (GRCm39)	missense	probably benign	0.01
R2304:Grid2ip	UTSW	5	143,373,595 (GRCm39)	missense	probably damaging	1.00
R2871:Grid2ip	UTSW	5	143,343,684 (GRCm39)	missense	probably benign
R2871:Grid2ip	UTSW	5	143,343,684 (GRCm39)	missense	probably benign
R2873:Grid2ip	UTSW	5	143,343,684 (GRCm39)	missense	probably benign
R2874:Grid2ip	UTSW	5	143,343,684 (GRCm39)	missense	probably benign
R3196:Grid2ip	UTSW	5	143,373,933 (GRCm39)	missense	probably damaging	0.99
R3622:Grid2ip	UTSW	5	143,371,774 (GRCm39)	missense	probably damaging	1.00
R3930:Grid2ip	UTSW	5	143,371,794 (GRCm39)	missense	probably damaging	1.00
R4696:Grid2ip	UTSW	5	143,377,131 (GRCm39)	intron	probably benign
R4709:Grid2ip	UTSW	5	143,374,658 (GRCm39)	missense	probably damaging	1.00
R4772:Grid2ip	UTSW	5	143,361,455 (GRCm39)	missense	possibly damaging	0.91
R4838:Grid2ip	UTSW	5	143,374,530 (GRCm39)	nonsense	probably null
R4857:Grid2ip	UTSW	5	143,368,384 (GRCm39)	missense	probably damaging	1.00
R5243:Grid2ip	UTSW	5	143,363,260 (GRCm39)	missense	probably damaging	1.00
R5894:Grid2ip	UTSW	5	143,374,666 (GRCm39)	missense	probably damaging	1.00
R6014:Grid2ip	UTSW	5	143,373,578 (GRCm39)	missense	possibly damaging	0.84
R6076:Grid2ip	UTSW	5	143,373,130 (GRCm39)	missense	probably benign	0.17
R6209:Grid2ip	UTSW	5	143,366,184 (GRCm39)	missense	probably damaging	1.00
R6257:Grid2ip	UTSW	5	143,366,184 (GRCm39)	missense	probably damaging	1.00
R6274:Grid2ip	UTSW	5	143,366,184 (GRCm39)	missense	probably damaging	1.00
R6439:Grid2ip	UTSW	5	143,359,257 (GRCm39)	missense	probably damaging	0.99
R7098:Grid2ip	UTSW	5	143,343,346 (GRCm39)	missense	probably damaging	0.97
R7405:Grid2ip	UTSW	5	143,366,199 (GRCm39)	missense	probably benign	0.03
R7652:Grid2ip	UTSW	5	143,368,393 (GRCm39)	missense	probably damaging	1.00
R8259:Grid2ip	UTSW	5	143,348,344 (GRCm39)	missense	probably benign	0.20
R8261:Grid2ip	UTSW	5	143,367,695 (GRCm39)	critical splice donor site	probably null
R8350:Grid2ip	UTSW	5	143,363,273 (GRCm39)	missense	probably damaging	1.00
R8391:Grid2ip	UTSW	5	143,365,951 (GRCm39)	missense	probably damaging	0.98
R8450:Grid2ip	UTSW	5	143,363,273 (GRCm39)	missense	probably damaging	1.00
R8793:Grid2ip	UTSW	5	143,363,396 (GRCm39)	missense	probably damaging	1.00
R8851:Grid2ip	UTSW	5	143,348,352 (GRCm39)	missense	possibly damaging	0.94
R8944:Grid2ip	UTSW	5	143,366,260 (GRCm39)	critical splice donor site	probably null
R9022:Grid2ip	UTSW	5	143,366,204 (GRCm39)	missense	probably benign	0.02
R9227:Grid2ip	UTSW	5	143,359,194 (GRCm39)	missense	probably damaging	0.99
R9230:Grid2ip	UTSW	5	143,359,194 (GRCm39)	missense	probably damaging	0.99
R9382:Grid2ip	UTSW	5	143,361,103 (GRCm39)	critical splice donor site	probably null
R9425:Grid2ip	UTSW	5	143,367,435 (GRCm39)	missense
X0010:Grid2ip	UTSW	5	143,343,633 (GRCm39)	missense	probably benign	0.01
X0012:Grid2ip	UTSW	5	143,348,394 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TTCCATGACCCCAAGCCTAG -3'
(R):5'- CCGCCCCAATTTAATAAATGTAATG -3'

Sequencing Primer
(F):5'- AAGCCTAGCTCCCGCAC -3'
(R):5'- AGGAAGAGGTGGTGGTGGTG -3'

Posted On

2015-10-08