Mutagenetix > Incidental Mutations

Incidental Mutation 'R6394:Grip2'

515932

Institutional Source

Beutler Lab

Gene Symbol

Grip2

Ensembl Gene

ENSMUSG00000030098

Gene Name

glutamate receptor interacting protein 2

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6394 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

91761509-91827250 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 91787201 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 134 (Y134C)

Ref Sequence

ENSEMBL: ENSMUSP00000124709 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000159684] [ENSMUST00000161566] [ENSMUST00000162293] [ENSMUST00000162300]

Predicted Effect

probably damaging
Transcript: ENSMUST00000159684
AA Change: Y134C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000125047
Gene: ENSMUSG00000030098
AA Change: Y134C

Domain	Start	End	E-Value	Type
low complexity region	25	36	N/A	INTRINSIC
PDZ	62	136	1.12e-12	SMART
PDZ	161	239	3.8e-15	SMART
PDZ	262	337	7.9e-13	SMART
low complexity region	385	390	N/A	INTRINSIC
PDZ	426	506	2.18e-15	SMART
PDZ	527	602	3.86e-16	SMART
PDZ	625	699	1.38e-17	SMART
low complexity region	778	793	N/A	INTRINSIC
low complexity region	867	878	N/A	INTRINSIC
PDZ	910	982	2.95e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000161545

SMART Domains

Protein: ENSMUSP00000125538
Gene: ENSMUSG00000030098

Domain	Start	End	E-Value	Type
low complexity region	22	33	N/A	INTRINSIC
PDB:2QT5\|B	42	89	3e-9	PDB
SCOP:d1lcya1	47	89	2e-7	SMART
low complexity region	103	119	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161566

SMART Domains

Protein: ENSMUSP00000123941
Gene: ENSMUSG00000030098

Domain	Start	End	E-Value	Type
low complexity region	25	36	N/A	INTRINSIC
PDZ	62	136	9.96e-10	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000162293
AA Change: Y82C

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

SMART Domains

Protein: ENSMUSP00000124717
Gene: ENSMUSG00000030098
AA Change: Y82C

Domain	Start	End	E-Value	Type
PDZ	10	84	1.12e-12	SMART
PDZ	109	187	3.8e-15	SMART
PDZ	210	285	7.9e-13	SMART
low complexity region	336	348	N/A	INTRINSIC
low complexity region	374	379	N/A	INTRINSIC
PDZ	415	495	2.18e-15	SMART
PDZ	516	591	3.86e-16	SMART
PDZ	614	688	1.38e-17	SMART
low complexity region	767	782	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000162300
AA Change: Y134C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000124709
Gene: ENSMUSG00000030098
AA Change: Y134C

Domain	Start	End	E-Value	Type
low complexity region	25	36	N/A	INTRINSIC
PDZ	62	136	1.12e-12	SMART
PDZ	161	239	3.8e-15	SMART
PDZ	262	337	7.9e-13	SMART
low complexity region	388	400	N/A	INTRINSIC
low complexity region	426	431	N/A	INTRINSIC
PDZ	467	547	2.18e-15	SMART
PDZ	568	643	3.86e-16	SMART
PDZ	666	740	1.38e-17	SMART
low complexity region	819	834	N/A	INTRINSIC
low complexity region	908	919	N/A	INTRINSIC
PDZ	951	1023	2.95e-12	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.2%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous null mice are born in numbers expected by the Mendelian ratio and show no overt phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700074P13Rik	A	T	6: 40,921,792	L174*	probably null	Het
Akap11	A	T	14: 78,522,589		probably null	Het
Alpi	T	A	1: 87,100,706	Y154F	possibly damaging	Het
Als2	A	T	1: 59,167,197	F1635I	probably damaging	Het
Anxa1	C	T	19: 20,383,849	V60M	probably damaging	Het
Atp10b	A	G	11: 43,225,637	Y937C	probably damaging	Het
Brd4	C	A	17: 32,224,147	E167*	probably null	Het
Cacna1h	G	A	17: 25,387,481	T1048I	probably benign	Het
Ccdc113	A	G	8: 95,557,192	D298G	probably benign	Het
Cfap100	T	A	6: 90,417,623	N74I	possibly damaging	Het
Chd8	A	T	14: 52,202,585	H4Q	possibly damaging	Het
Clcn1	A	G	6: 42,307,590	T621A	possibly damaging	Het
Clcn1	A	G	6: 42,313,238	T843A	possibly damaging	Het
Clcn3	C	T	8: 60,941,291	R68Q	probably damaging	Het
Dcaf13	T	A	15: 39,143,737	N355K	probably benign	Het
Dnah6	A	T	6: 73,155,418	C1100*	probably null	Het
Dync2h1	A	T	9: 7,168,331	V428E	probably damaging	Het
E230025N22Rik	T	C	18: 36,686,786	E317G	probably damaging	Het
Eml2	G	A	7: 19,201,163	V432I	probably damaging	Het
Evc2	C	A	5: 37,378,275	D431E	probably damaging	Het
Gcm2	T	G	13: 41,109,897	T20P	probably damaging	Het
Gdf9	A	G	11: 53,436,697	Y160C	probably damaging	Het
Gm8220	A	G	14: 44,285,677		probably benign	Het
Gm9573	A	T	17: 35,620,166		probably benign	Het
Gpalpp1	A	T	14: 76,107,412	S44T	possibly damaging	Het
Hephl1	A	G	9: 15,074,101	F753S	probably benign	Het
Herc1	A	G	9: 66,395,059	T727A	probably damaging	Het
Herc2	A	G	7: 56,215,981	E4232G	probably damaging	Het
Ifi207	A	G	1: 173,729,015	L726P	probably benign	Het
Itga11	T	A	9: 62,735,266		probably null	Het
Jrkl	A	C	9: 13,245,490	Y55*	probably null	Het
Kif13a	C	T	13: 46,752,455	V671M	possibly damaging	Het
Kif18b	A	G	11: 102,914,410	V303A	probably damaging	Het
Klhl29	A	T	12: 5,094,830	C423*	probably null	Het
Klhl29	T	C	12: 5,137,720	S215G	probably benign	Het
Lamp5	A	G	2: 136,061,009	D216G	possibly damaging	Het
Leo1	T	A	9: 75,445,470	D98E	probably benign	Het
Map3k3	T	C	11: 106,148,883	V283A	probably benign	Het
Med12l	A	G	3: 59,235,087	K902E	probably damaging	Het
Mmp1b	C	A	9: 7,386,316	D202Y	probably benign	Het
Olfr1201	C	T	2: 88,794,952	T190I	probably benign	Het
Olfr239	G	A	17: 33,199,513	G155D	probably damaging	Het
Olfr488	C	T	7: 108,255,763	R125H	possibly damaging	Het
Olfr657	T	A	7: 104,635,702	N9K	possibly damaging	Het
Olfr657	T	C	7: 104,636,027	S118P	possibly damaging	Het
Olfr816	G	T	10: 129,911,920	D119E	probably damaging	Het
Olfr979	T	C	9: 40,000,705	Q174R	probably benign	Het
Onecut3	A	G	10: 80,496,013	I336V	probably damaging	Het
Oprl1	C	T	2: 181,719,002	R257C	probably damaging	Het
Osbpl6	T	C	2: 76,555,954	V207A	probably benign	Het
Pde3a	A	T	6: 141,487,511	H756L	probably damaging	Het
Peg10	T	TCCG	6: 4,756,451		probably benign	Het
Phyh	A	G	2: 4,936,003	D238G	probably benign	Het
Pnliprp2	T	A	19: 58,761,598	N92K	probably benign	Het
Pole3	T	C	4: 62,524,026		probably benign	Het
Ppm1d	T	C	11: 85,339,672	V372A	probably benign	Het
Prpf40a	A	T	2: 53,144,878	I766N	probably damaging	Het
Prr5	T	A	15: 84,699,724	V175E	probably damaging	Het
Ptprq	T	A	10: 107,642,943	K1280*	probably null	Het
Rbp2	T	A	9: 98,507,820	V95E	possibly damaging	Het
Rictor	T	C	15: 6,769,309	F346L	possibly damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904		probably benign	Homo
Scn10a	T	A	9: 119,661,320	I519F	probably benign	Het
Setd5	T	G	6: 113,115,544	V295G	probably damaging	Het
Shcbp1	A	T	8: 4,736,176	M642K	probably damaging	Het
Slc13a3	C	T	2: 165,434,097	G243E	probably damaging	Het
Smg9	T	C	7: 24,422,307	Y498H	probably damaging	Het
Sox5	T	C	6: 144,041,313	D175G	probably damaging	Het
Stard7	A	G	2: 127,284,241	D71G	probably damaging	Het
Stxbp5	A	T	10: 9,899,231	Y59*	probably null	Het
Supt6	G	A	11: 78,231,065	R254C	probably damaging	Het
Syne2	C	T	12: 75,990,495	T3817I	probably benign	Het
Tas2r124	T	A	6: 132,755,076	I116N	probably damaging	Het
Trim9	T	A	12: 70,255,213	E550D	possibly damaging	Het
Vmn2r50	A	G	7: 10,040,326	S548P	probably damaging	Het
Zmynd8	C	A	2: 165,846,023	E126*	probably null	Het
Zswim9	A	T	7: 13,260,963	S422R	probably damaging	Het

Other mutations in Grip2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01141:Grip2	APN	6	91782897	missense	probably benign	0.00
IGL01748:Grip2	APN	6	91764743	missense	probably damaging	1.00
IGL01838:Grip2	APN	6	91764763	missense	possibly damaging	0.92
IGL02392:Grip2	APN	6	91787295	missense	probably damaging	1.00
IGL02620:Grip2	APN	6	91778606	missense	possibly damaging	0.93
IGL02862:Grip2	APN	6	91788104	missense	probably damaging	0.98
IGL03027:Grip2	APN	6	91778871	missense	probably benign	0.02
IGL03180:Grip2	APN	6	91785761	splice site	probably benign
R0265:Grip2	UTSW	6	91773792	critical splice donor site	probably null
R0448:Grip2	UTSW	6	91779213	missense	probably damaging	1.00
R0597:Grip2	UTSW	6	91796197	intron	probably benign
R1405:Grip2	UTSW	6	91788152	splice site	probably null
R1405:Grip2	UTSW	6	91788152	splice site	probably null
R1466:Grip2	UTSW	6	91788443	missense	probably damaging	0.98
R1466:Grip2	UTSW	6	91788443	missense	probably damaging	0.98
R1664:Grip2	UTSW	6	91765252	missense	probably damaging	1.00
R1703:Grip2	UTSW	6	91777398	missense	probably damaging	1.00
R1793:Grip2	UTSW	6	91783642	missense	probably benign	0.03
R1951:Grip2	UTSW	6	91783848	missense	probably damaging	1.00
R2001:Grip2	UTSW	6	91779850	missense	probably benign	0.00
R4730:Grip2	UTSW	6	91785712	makesense	probably null
R4754:Grip2	UTSW	6	91779182	missense	probably damaging	1.00
R4754:Grip2	UTSW	6	91779192	missense	probably damaging	0.97
R4773:Grip2	UTSW	6	91782432	missense	possibly damaging	0.80
R5135:Grip2	UTSW	6	91773916	missense	possibly damaging	0.89
R5213:Grip2	UTSW	6	91779831	missense	probably benign	0.04
R5972:Grip2	UTSW	6	91807281	missense	probably benign	0.01
R6176:Grip2	UTSW	6	91779851	missense	probably benign	0.00
R6188:Grip2	UTSW	6	91763533	missense	probably damaging	1.00
R6289:Grip2	UTSW	6	91778871	missense	probably benign	0.02
R6345:Grip2	UTSW	6	91765388	missense	possibly damaging	0.91
R6348:Grip2	UTSW	6	91780438	missense	probably damaging	0.99
R6658:Grip2	UTSW	6	91786491	missense	probably damaging	1.00
R7065:Grip2	UTSW	6	91783569	critical splice donor site	probably null
R7074:Grip2	UTSW	6	91784708	missense	probably benign	0.24
R7308:Grip2	UTSW	6	91778688	missense	possibly damaging	0.74
R7607:Grip2	UTSW	6	91788412	missense	probably benign
R7617:Grip2	UTSW	6	91765050	splice site	probably null
R7970:Grip2	UTSW	6	91786532	missense	probably benign	0.07
R8221:Grip2	UTSW	6	91785684	missense	possibly damaging	0.90
RF003:Grip2	UTSW	6	91783593	missense	probably benign	0.02
Z1176:Grip2	UTSW	6	91763510	missense	possibly damaging	0.55

Predicted Primers

PCR Primer
(F):5'- TATGAACAGGGTCCCACCAC -3'
(R):5'- GAATGTTGGTACCAGAGGCC -3'

Sequencing Primer
(F):5'- TGACAACATACTGTGTCTACCATGC -3'
(R):5'- CAGTGCTGACCCAACTTAGG -3'

Posted On

2018-05-04