Mutagenetix > Incidental Mutation

Incidental Mutation 'RF003:Grip2'

602619

Institutional Source

Beutler Lab

Gene Symbol

Grip2

Ensembl Gene

ENSMUSG00000030098

Gene Name

glutamate receptor interacting protein 2

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

RF003 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

91761509-91827250 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 91783593 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 341 (R341Q)

Ref Sequence

ENSEMBL: ENSMUSP00000124709 (fasta)

Gene Model

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

AlphaFold

G3XA20

Predicted Effect

possibly damaging
Transcript: ENSMUST00000159684
AA Change: R341Q

PolyPhen 2 Score 0.616 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000125047
Gene: ENSMUSG00000030098
AA Change: R341Q

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

possibly damaging
Transcript: ENSMUST00000162293
AA Change: R289Q

PolyPhen 2 Score 0.490 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000124717
Gene: ENSMUSG00000030098
AA Change: R289Q

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: R341Q

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000124709
Gene: ENSMUSG00000030098
AA Change: R341Q

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: 99.8%
3x: 99.7%
10x: 99.2%
20x: 98.1%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	AACC	A	7: 40,993,055		probably benign	Het
A630073D07Rik	A	C	6: 132,627,443	L13R	unknown	Het
Alg9	GGC	GGCCGC	9: 50,775,427		probably benign	Het
Arc	G	C	15: 74,672,131	T81S	probably benign	Het
Atad5	A	T	11: 80,111,560	K1059N	probably damaging	Het
Bdp1	C	A	13: 100,060,449	V1143F	probably benign	Het
Bdp1	C	A	13: 100,060,450	Q1142H	probably benign	Het
Ccdc33	T	C	9: 58,058,291	S583G	probably benign	Het
Cd109	TTAT	TTATTTATTTATATAT	9: 78,712,531		probably benign	Het
Cep192	A	T	18: 67,837,956	R1009S	probably benign	Het
Clvs2	T	A	10: 33,622,925	H3L	probably damaging	Het
Cnot6	T	C	11: 49,702,613	M14V	probably benign	Het
Colec10	A	G	15: 54,462,391	R206G	possibly damaging	Het
Dennd6a	T	C	14: 26,629,534	I598T	probably damaging	Het
Dmrt2	T	C	19: 25,678,134	S366P	probably damaging	Het
Dnmt1	AGTTCCTACCTCGTT	AGTTCCTACCTCGTTTTGGGGGCGGAGCACCGTTCCTACCTCGTT	9: 20,910,131		probably null	Het
Efhb	T	C	17: 53,400,891	D748G	probably damaging	Het
Etl4	C	T	2: 20,519,918	Q21*	probably null	Het
Fam172a	A	T	13: 77,834,675	I135L	possibly damaging	Het
Fam71e1	C	CGGAGGGAGGAAGGCTGGATCCTGGATACCTGGGTA	7: 44,500,527		probably null	Het
Flywch1	CCACTCCTGGTGT	CCACTCCTGGTGTGGGGAGGCTACGTACTCACACACTCCTGGTGT	17: 23,762,166		probably null	Het
Fmn1	ACCTCC	ACCTCCCCCTCC	2: 113,525,786		probably benign	Het
Fsip2	T	A	2: 82,991,521	M5866K	probably benign	Het
Gab3	CTT	CTTATT	X: 75,000,006		probably null	Het
Gnl2	T	A	4: 125,043,725		probably null	Het
Hmcn1	T	A	1: 150,624,561	H3960L	probably damaging	Het
Igkv6-25	T	A	6: 70,215,778	Y56*	probably null	Het
Il12a	A	T	3: 68,695,229	T102S	probably benign	Het
Il1a	T	A	2: 129,302,932	I189F	possibly damaging	Het
Inpp4b	T	A	8: 81,969,521	Y361*	probably null	Het
Iqcf4	CTTTTCCTTTTCCTTTT	CTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCATTTTCCTTTTCCTTTT	9: 106,570,607		probably benign	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,850,378		probably benign	Het
Las1l	AGTGG	AGTGGTGG	X: 95,940,816		probably benign	Het
Lrmp	AGCACATTG	AGCACATTGTGCACATTG	6: 145,173,783		probably benign	Het
Lrrc8d	T	C	5: 105,812,641	Y306H	probably damaging	Het
Mamld1	AGC	AGCCGC	X: 71,118,820		probably benign	Het
Map1a	CTCCAGCTCCAGCTCCAGCTCCA	CTCCAGCTCCAGCTCCAGCTCCAGCTCCAGATCCAGCTCCAGCTCCAGCTCCA	2: 121,306,296		probably benign	Het
Map1b	G	T	13: 99,430,750	A1821E	unknown	Het
Maz	A	G	7: 127,025,497	C284R	probably damaging	Het
Med23	A	G	10: 24,903,785	H920R	probably damaging	Het
Megf10	CCAGCAGCAGCAGCAGCAGCAG	CCAGCAGCAGCAGCAGCAG	18: 57,294,027		probably benign	Het
Mmp14	C	T	14: 54,439,014	R339*	probably null	Het
Mroh9	T	G	1: 163,058,061	K334T	probably damaging	Het
Nab1	A	T	1: 52,479,282	C320S	probably damaging	Het
Noto	T	C	6: 85,424,210	S74P	probably benign	Het
Nudt4	T	C	10: 95,549,374	N152D	possibly damaging	Het
Nup155	T	TTTTG	15: 8,119,176		probably benign	Het
Nusap1	AGCTGAGA	AGCTGAGATACACGTTAGCAGTGAGGAGCAGGCTGAGA	2: 119,627,603		probably benign	Het
Olfr118	A	C	17: 37,672,858	K278N	probably damaging	Het
Olfr330	CA	C	11: 58,529,157		probably null	Het
Olfr461	T	C	6: 40,544,362	I206V	probably benign	Het
Olfr585	GTTAT	GTTATTAT	7: 103,098,305			Het
Olfr585	TTA	TTAGTA	7: 103,098,306		probably null	Het
Olfr710	T	A	7: 106,944,648	M118L	probably damaging	Het
Olfr828	T	C	9: 18,815,482	T271A	probably benign	Het
Plxnc1	T	C	10: 94,794,444	Y1531C	probably damaging	Het
Pnmal2	TGA	TGAAGA	7: 16,946,016		probably benign	Het
Rp1	A	G	1: 4,344,694	V2065A	probably damaging	Het
Sbp	AAGATGCTGACAACA	AAGATGCTGACAACAGAGATGCTGACAACA	17: 23,945,369		probably benign	Het
Sepsecs	G	A	5: 52,647,191	T379M	probably benign	Het
Sfswap	GGCC	GGCCCACTCTGCC	5: 129,569,764		probably benign	Het
Six3	GCG	GCGTCG	17: 85,621,370		probably benign	Het
Tfeb	C	T	17: 47,788,078	T259I	possibly damaging	Het
Tgoln1	A	AAACTCAG	6: 72,616,352		probably null	Het
Tmem94	G	A	11: 115,796,132	V1108M	probably damaging	Het
Usp35	T	C	7: 97,322,096	K297E	possibly damaging	Het
Vcpkmt	T	A	12: 69,582,824	T55S	possibly damaging	Het
Zfp384	GCCCAGGCCCAGGCCCAGGCCCAG	GCCCAGGCCCAGTCCCAGGCCCAGGCCCAGGCCCAG	6: 125,036,471		probably benign	Het
Zfp384	GGCCC	GGCCCTGGCCCAAGCCC	6: 125,036,476		probably benign	Het
Zfp384	GCCCAGGCCCAG	GCCCAGGCCCAGTCCCAGGCCCAG	6: 125,036,483		probably benign	Het
Zfp407	A	T	18: 84,209,563	S1974T	probably benign	Het
Zfp677	T	C	17: 21,397,442	S254P	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
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
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
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
R9699:Grip2	UTSW	6	91765337	missense	probably benign
R9732:Grip2	UTSW	6	91784705	missense	probably damaging	0.99
Z1176:Grip2	UTSW	6	91763510	missense	possibly damaging	0.55

Predicted Primers

PCR Primer
(F):5'- CAGGCCCTTAGCAGAGACTAAATG -3'
(R):5'- AGGCAACCTGTGTCTCTGTC -3'

Sequencing Primer
(F):5'- TTAGCAGAGACTAAATGAACAAATCC -3'
(R):5'- GTCCTCTGGACCAGCCTC -3'

Posted On

2019-12-04