Mutagenetix > Incidental Mutation

Incidental Mutation 'R4772:Grid2ip'

367602

Institutional Source

Beutler Lab

Gene Symbol

Grid2ip

Ensembl Gene

ENSMUSG00000010825

Gene Name

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

Synonyms

delphilin

Accession Numbers

Essential gene?

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

Stock #

R4772 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

143343085-143377534 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 143361455 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 222 (V222G)

Ref Sequence

ENSEMBL: ENSMUSP00000010969 (fasta)

Gene Model

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

AlphaFold

Q0QWG9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000010969
AA Change: V222G

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000010969
Gene: ENSMUSG00000010825
AA Change: V222G

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

possibly damaging
Transcript: ENSMUST00000110733
AA Change: V401G

PolyPhen 2 Score 0.850 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000106361
Gene: ENSMUSG00000010825
AA Change: V401G

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

possibly damaging
Transcript: ENSMUST00000120825
AA Change: V229G

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000113443
Gene: ENSMUSG00000010825
AA Change: V229G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196148

Meta Mutation Damage Score

0.6568

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

95% (74/78)

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
Abca13	T	A	11: 9,265,339 (GRCm39)		probably null	Het
Adamts19	A	G	18: 58,970,848 (GRCm39)	Q144R	possibly damaging	Het
Adgrb3	C	A	1: 25,570,956 (GRCm39)	C507F	probably damaging	Het
Atg9b	T	C	5: 24,590,237 (GRCm39)	*923W	probably null	Het
Atp13a4	T	C	16: 29,239,653 (GRCm39)		probably benign	Het
Baz2b	G	T	2: 59,788,795 (GRCm39)	R697S	probably damaging	Het
Bicdl1	A	G	5: 115,799,537 (GRCm39)	I184T	probably benign	Het
Bpifb4	C	T	2: 153,784,903 (GRCm39)	L204F	possibly damaging	Het
Cep120	C	T	18: 53,851,561 (GRCm39)	R577Q	probably damaging	Het
Cplx4	T	C	18: 66,103,048 (GRCm39)	E24G	possibly damaging	Het
Dcxr	T	C	11: 120,616,923 (GRCm39)	T147A	probably benign	Het
Dnajc10	C	A	2: 80,170,870 (GRCm39)	H454N	probably damaging	Het
Dsp	G	T	13: 38,351,504 (GRCm39)	G108*	probably null	Het
Entpd6	T	A	2: 150,609,014 (GRCm39)	I366K	probably damaging	Het
Fam111a	A	G	19: 12,565,057 (GRCm39)	K269E	probably benign	Het
Hmcn2	T	G	2: 31,335,326 (GRCm39)	V4421G	probably benign	Het
Ifi207	T	C	1: 173,555,253 (GRCm39)	T817A	probably damaging	Het
Irak2	A	T	6: 113,670,683 (GRCm39)	E533V	probably damaging	Het
Katnip	A	G	7: 125,464,523 (GRCm39)	S1297G	probably damaging	Het
Kbtbd6	T	C	14: 79,689,596 (GRCm39)	F97S	probably damaging	Het
Kctd14	A	T	7: 97,106,883 (GRCm39)	E99V	probably damaging	Het
Klhl10	A	T	11: 100,338,557 (GRCm39)	Y432F	probably benign	Het
Lrrc49	T	C	9: 60,592,335 (GRCm39)	N53S	possibly damaging	Het
Mief2	T	A	11: 60,621,288 (GRCm39)		probably benign	Het
Mog	A	T	17: 37,334,049 (GRCm39)	S15T	unknown	Het
Mpi	T	C	9: 57,452,181 (GRCm39)	D365G	probably damaging	Het
Mpp7	A	G	18: 7,379,983 (GRCm39)		probably null	Het
Nes	A	G	3: 87,883,486 (GRCm39)	T582A	probably benign	Het
Nlrp14	A	G	7: 106,780,393 (GRCm39)	D5G	probably benign	Het
Nr1i3	C	T	1: 171,044,719 (GRCm39)	T218I	probably damaging	Het
Nup43	C	T	10: 7,554,433 (GRCm39)	R339*	probably null	Het
Nup58	T	A	14: 60,457,471 (GRCm39)	R577S	probably benign	Het
Olfr908	C	T	9: 38,427,897 (GRCm39)		probably benign	Het
Or4l15	AAATTTGAA	AAA	14: 50,198,452 (GRCm39)		probably benign	Het
Or52n4b	T	A	7: 108,144,092 (GRCm39)	M120K	probably damaging	Het
Or5d35	T	A	2: 87,855,207 (GRCm39)	I47K	probably damaging	Het
Or6c38	A	T	10: 128,929,537 (GRCm39)	V102D	possibly damaging	Het
Or9g20	G	A	2: 85,630,338 (GRCm39)	S92F	probably damaging	Het
Orc1	T	C	4: 108,436,765 (GRCm39)		probably benign	Het
Pax6	C	A	2: 105,526,847 (GRCm39)	P251Q	probably benign	Het
Phactr3	C	T	2: 177,925,729 (GRCm39)	R330W	probably damaging	Het
Phldb1	G	A	9: 44,622,324 (GRCm39)	R81W	probably damaging	Het
Pip5k1c	C	T	10: 81,151,774 (GRCm39)	P656L	probably benign	Het
Pkn3	T	G	2: 29,974,692 (GRCm39)		probably null	Het
Plcb2	T	A	2: 118,543,615 (GRCm39)	H752L	probably benign	Het
Plch1	G	A	3: 63,660,746 (GRCm39)	T291M	probably damaging	Het
Plekhg1	A	T	10: 3,823,127 (GRCm39)	M32L	probably benign	Het
Plekhg1	A	T	10: 3,823,130 (GRCm39)	T33S	probably damaging	Het
Plk4	A	G	3: 40,759,625 (GRCm39)	T174A	probably damaging	Het
Ppip5k2	C	A	1: 97,648,792 (GRCm39)		probably benign	Het
Prl2a1	G	A	13: 27,988,961 (GRCm39)	V29M	probably benign	Het
R3hcc1l	T	C	19: 42,571,996 (GRCm39)		probably benign	Het
Rasa3	C	T	8: 13,648,289 (GRCm39)	G125D	probably damaging	Het
Sema3f	A	T	9: 107,566,919 (GRCm39)	Y136*	probably null	Het
Slc13a5	T	A	11: 72,141,672 (GRCm39)		probably null	Het
Slc16a1	T	C	3: 104,560,880 (GRCm39)	V395A	possibly damaging	Het
Sparcl1	C	T	5: 104,236,356 (GRCm39)	A466T	probably benign	Het
Srrm1	G	A	4: 135,069,690 (GRCm39)		probably benign	Het
Styxl1	G	A	5: 135,797,755 (GRCm39)	R50*	probably null	Het
Tex264	T	A	9: 106,550,901 (GRCm39)	I99F	possibly damaging	Het
Tgtp2	T	C	11: 48,949,811 (GRCm39)	T254A	probably damaging	Het
Tmem245	A	C	4: 56,937,989 (GRCm39)		probably null	Het
Tnik	A	T	3: 28,661,359 (GRCm39)	T587S	probably benign	Het
Tpr	T	G	1: 150,288,864 (GRCm39)	S648A	possibly damaging	Het
Ttn	T	C	2: 76,596,313 (GRCm39)	E18454G	probably damaging	Het
Utp20	A	C	10: 88,645,797 (GRCm39)	H527Q	probably benign	Het
Vmn1r1	A	T	1: 181,985,111 (GRCm39)	S185T	probably benign	Het
Vps54	C	T	11: 21,262,952 (GRCm39)	H680Y	probably damaging	Het
Vwa5b2	A	G	16: 20,419,553 (GRCm39)		probably null	Het
Wscd1	T	C	11: 71,662,802 (GRCm39)		probably null	Het
Zbtb41	C	T	1: 139,375,152 (GRCm39)	P871S	probably damaging	Het
Zcchc4	T	C	5: 52,953,549 (GRCm39)	L186P	possibly damaging	Het
Zdhhc13	A	G	7: 48,449,621 (GRCm39)	Y73C	probably benign	Het
Zfp12	A	G	5: 143,225,755 (GRCm39)	E21G	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
R4628:Grid2ip	UTSW	5	143,368,630 (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
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'- CTGGGAAACTGCACCTACCTTG -3'
(R):5'- AAGGCACGTCAGTTGTTCCTC -3'

Sequencing Primer
(F):5'- TACCTTGGTGACTCCGGGTC -3'
(R):5'- GTCAGTTGTTCCTCCCTTCATACTAG -3'

Posted On

2015-12-29