Mutagenetix > Incidental Mutation

Incidental Mutation 'R7607:Grip2'

588367

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 #

R7607 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

91761509-91827250 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 91788412 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 30 (T30A)

Ref Sequence

ENSEMBL: ENSMUSP00000124709 (fasta)

Gene Model

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

AlphaFold

G3XA20

Predicted Effect

probably benign
Transcript: ENSMUST00000159684
AA Change: T30A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000125047
Gene: ENSMUSG00000030098
AA Change: T30A

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

SMART Domains

Protein: ENSMUSP00000125538
Gene: ENSMUSG00000030098
AA Change: T26A

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
AA Change: T30A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000123941
Gene: ENSMUSG00000030098
AA Change: T30A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000162293

SMART Domains

Protein: ENSMUSP00000124717
Gene: ENSMUSG00000030098

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 benign
Transcript: ENSMUST00000162300
AA Change: T30A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000124709
Gene: ENSMUSG00000030098
AA Change: T30A

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: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

99% (69/70)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010K14Rik	A	T	11: 70,237,557	H30Q	probably damaging	Het
1700012P22Rik	T	A	4: 144,419,762	H107L	probably damaging	Het
A930009A15Rik	G	A	10: 115,581,989		probably null	Het
Abca7	T	C	10: 80,011,833	L1779P	probably damaging	Het
Aff1	G	A	5: 103,849,459	V1140I	possibly damaging	Het
Ano2	C	T	6: 125,712,419	A169V	probably damaging	Het
Atat1	T	C	17: 35,909,107	Y101C	possibly damaging	Het
Atp6v1c1	T	C	15: 38,683,011		probably null	Het
Atp7b	T	G	8: 22,011,506	K912T	probably damaging	Het
Ceacam14	T	C	7: 17,814,321	V112A	possibly damaging	Het
Cobll1	T	C	2: 65,095,857	N1119S	probably benign	Het
Csmd1	G	T	8: 15,918,331	Q3099K	possibly damaging	Het
Cyp3a25	A	G	5: 145,984,981	V381A	possibly damaging	Het
Dctn1	C	T	6: 83,195,069	R948*	probably null	Het
Dhrs3	A	G	4: 144,923,940	T219A	probably benign	Het
Epha7	C	T	4: 28,871,937	S422L	probably benign	Het
Esrp1	A	G	4: 11,384,449	V78A	probably damaging	Het
Evc2	A	G	5: 37,386,856	T650A	possibly damaging	Het
Exoc6b	T	A	6: 84,989,409	K194N	possibly damaging	Het
Fer1l6	G	A	15: 58,662,732	W1809*	probably null	Het
Frmd4a	T	A	2: 4,591,936	L156*	probably null	Het
Gk5	A	T	9: 96,153,210		probably null	Het
Gm3573	A	G	14: 42,189,750	F8L	probably benign	Het
Gm906	T	C	13: 50,250,260	E2G	possibly damaging	Het
Gm9767	G	A	10: 26,078,940	C130Y	unknown	Het
Gskip	C	A	12: 105,698,897	A65E	possibly damaging	Het
Gtf2e2	A	G	8: 33,776,465	R259G	probably benign	Het
Gucy1b2	T	A	14: 62,419,177	I244F	probably damaging	Het
Gxylt2	G	T	6: 100,798,190	V357L	possibly damaging	Het
Hivep3	CGG	CG	4: 120,097,911	1141	probably null	Het
Igdcc4	C	T	9: 65,133,758	P1024S	possibly damaging	Het
Ino80	A	T	2: 119,382,269		probably null	Het
Knl1	T	C	2: 119,095,133	F1881S	possibly damaging	Het
Mbd6	T	C	10: 127,285,230	E518G	unknown	Het
Mlh1	A	G	9: 111,229,890	S689P	probably damaging	Het
Mmrn2	T	C	14: 34,398,940	I589T	possibly damaging	Het
Mtmr12	C	T	15: 12,257,708	Q291*	probably null	Het
Mup8	T	A	4: 60,222,035	I33F	probably benign	Het
Mylk	C	T	16: 34,894,814	P504L	probably benign	Het
Ntrk3	C	T	7: 78,250,873	A573T	probably benign	Het
Obscn	G	T	11: 58,998,265	S7560R	unknown	Het
Olfr24	A	G	9: 18,754,882	F251S	possibly damaging	Het
Olfr617	A	C	7: 103,584,930	T303P	probably damaging	Het
Pde1c	T	C	6: 56,150,628	T391A	probably damaging	Het
Pla2g4d	T	A	2: 120,288,976	H19L	probably benign	Het
Plce1	C	A	19: 38,524,752	A165E	probably benign	Het
Polr1a	T	C	6: 71,913,021	S75P	probably benign	Het
Psg21	T	C	7: 18,654,783	E128G	probably benign	Het
Radil	A	T	5: 142,494,795	M635K	probably damaging	Het
Radil	A	G	5: 142,506,613	I420T	probably damaging	Het
Rnase11	G	A	14: 51,049,572	T175I	probably damaging	Het
Robo1	C	T	16: 72,563,738	P13S		Het
Slc18a2	C	A	19: 59,284,358	A364D	probably benign	Het
Snph	C	T	2: 151,594,586	D141N	probably damaging	Het
Snrnp70	T	C	7: 45,392,264	K70R	possibly damaging	Het
Snx33	T	C	9: 56,926,713	D24G	probably benign	Het
Spag6	T	A	2: 18,731,962	D165E	possibly damaging	Het
Spata31	T	G	13: 64,921,592	L518R	probably damaging	Het
Sspo	G	A	6: 48,489,727	V4059M	probably damaging	Het
St6galnac2	T	C	11: 116,679,979	Y261C	probably damaging	Het
Stoml1	A	G	9: 58,256,658	R87G	probably damaging	Het
Suv39h2	T	C	2: 3,474,829	T40A	unknown	Het
Terb2	G	T	2: 122,186,475	G26W	probably damaging	Het
Tmem62	T	C	2: 120,996,440	I406T	probably benign	Het
Tnfrsf11a	G	A	1: 105,844,732	V582I	probably benign	Het
Tpsg1	G	T	17: 25,373,210	G86V	probably damaging	Het
Unc13c	T	C	9: 73,669,535	D1480G	probably damaging	Het
Urb1	CACTTAC	CAC	16: 90,772,573		probably benign	Het
Vmn1r48	C	A	6: 90,035,980	V288L	probably benign	Het
Vmn2r13	A	G	5: 109,173,640	V397A	probably damaging	Het
Vmn2r98	A	G	17: 19,067,308	N468D	possibly damaging	Het
Zfhx2	G	T	14: 55,066,231	T1432K	possibly damaging	Het
Zswim5	T	A	4: 116,986,742	D992E	possibly 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
R6394:Grip2	UTSW	6	91787201	missense	probably damaging	1.00
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
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
R8549:Grip2	UTSW	6	91773788	splice site	probably null
R8838:Grip2	UTSW	6	91785740	utr 3 prime	probably benign
R8962:Grip2	UTSW	6	91777410	missense	probably damaging	1.00
R9430:Grip2	UTSW	6	91807284	missense	probably benign	0.05
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'- TTCTGCCACTTTATGCTGGG -3'
(R):5'- AGATTGGCTGAGAAGCTGC -3'

Sequencing Primer
(F):5'- GTGGCATCACCCTCCAC -3'
(R):5'- TGAGAAGCTGCCCACATG -3'

Posted On

2019-10-24