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

91738490-91804231 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 91760574 bp (GRCm39)

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: 40,642,479 (GRCm39)		probably benign	Het
A630073D07Rik	A	C	6: 132,604,406 (GRCm39)	L13R	unknown	Het
Alg9	GGC	GGCCGC	9: 50,686,727 (GRCm39)		probably benign	Het
Arb2a	A	T	13: 77,982,794 (GRCm39)	I135L	possibly damaging	Het
Arc	G	C	15: 74,543,980 (GRCm39)	T81S	probably benign	Het
Atad5	A	T	11: 80,002,386 (GRCm39)	K1059N	probably damaging	Het
Bdp1	C	A	13: 100,196,957 (GRCm39)	V1143F	probably benign	Het
Bdp1	C	A	13: 100,196,958 (GRCm39)	Q1142H	probably benign	Het
Ccdc33	T	C	9: 57,965,574 (GRCm39)	S583G	probably benign	Het
Cd109	TTAT	TTATTTATTTATATAT	9: 78,619,813 (GRCm39)		probably benign	Het
Cep192	A	T	18: 67,971,027 (GRCm39)	R1009S	probably benign	Het
Clvs2	T	A	10: 33,498,921 (GRCm39)	H3L	probably damaging	Het
Cnot6	T	C	11: 49,593,440 (GRCm39)	M14V	probably benign	Het
Colec10	A	G	15: 54,325,787 (GRCm39)	R206G	possibly damaging	Het
Dennd6a	T	C	14: 26,350,689 (GRCm39)	I598T	probably damaging	Het
Dmrt2	T	C	19: 25,655,498 (GRCm39)	S366P	probably damaging	Het
Dnmt1	AGTTCCTACCTCGTT	AGTTCCTACCTCGTTTTGGGGGCGGAGCACCGTTCCTACCTCGTT	9: 20,821,427 (GRCm39)		probably null	Het
Efhb	T	C	17: 53,707,919 (GRCm39)	D748G	probably damaging	Het
Etl4	C	T	2: 20,524,729 (GRCm39)	Q21*	probably null	Het
Flywch1	CCACTCCTGGTGT	CCACTCCTGGTGTGGGGAGGCTACGTACTCACACACTCCTGGTGT	17: 23,981,140 (GRCm39)		probably null	Het
Fmn1	ACCTCC	ACCTCCCCCTCC	2: 113,356,131 (GRCm39)		probably benign	Het
Fsip2	T	A	2: 82,821,865 (GRCm39)	M5866K	probably benign	Het
Gab3	CTT	CTTATT	X: 74,043,612 (GRCm39)		probably null	Het
Garin5a	C	CGGAGGGAGGAAGGCTGGATCCTGGATACCTGGGTA	7: 44,149,951 (GRCm39)		probably null	Het
Gnl2	T	A	4: 124,937,518 (GRCm39)		probably null	Het
Hmcn1	T	A	1: 150,500,312 (GRCm39)	H3960L	probably damaging	Het
Igkv6-25	T	A	6: 70,192,762 (GRCm39)	Y56*	probably null	Het
Il12a	A	T	3: 68,602,562 (GRCm39)	T102S	probably benign	Het
Il1a	T	A	2: 129,144,852 (GRCm39)	I189F	possibly damaging	Het
Inpp4b	T	A	8: 82,696,150 (GRCm39)	Y361*	probably null	Het
Iqcf4	CTTTTCCTTTTCCTTTT	CTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCATTTTCCTTTTCCTTTT	9: 106,447,806 (GRCm39)		probably benign	Het
Irag2	AGCACATTG	AGCACATTGTGCACATTG	6: 145,119,509 (GRCm39)		probably benign	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,758,813 (GRCm39)		probably benign	Het
Las1l	AGTGG	AGTGGTGG	X: 94,984,422 (GRCm39)		probably benign	Het
Lrrc8d	T	C	5: 105,960,507 (GRCm39)	Y306H	probably damaging	Het
Mamld1	AGC	AGCCGC	X: 70,162,426 (GRCm39)		probably benign	Het
Map1a	CTCCAGCTCCAGCTCCAGCTCCA	CTCCAGCTCCAGCTCCAGCTCCAGCTCCAGATCCAGCTCCAGCTCCAGCTCCA	2: 121,136,777 (GRCm39)		probably benign	Het
Map1b	G	T	13: 99,567,258 (GRCm39)	A1821E	unknown	Het
Maz	A	G	7: 126,624,669 (GRCm39)	C284R	probably damaging	Het
Med23	A	G	10: 24,779,683 (GRCm39)	H920R	probably damaging	Het
Megf10	CCAGCAGCAGCAGCAGCAGCAG	CCAGCAGCAGCAGCAGCAG	18: 57,427,099 (GRCm39)		probably benign	Het
Mmp14	C	T	14: 54,676,471 (GRCm39)	R339*	probably null	Het
Mroh9	T	G	1: 162,885,630 (GRCm39)	K334T	probably damaging	Het
Nab1	A	T	1: 52,518,441 (GRCm39)	C320S	probably damaging	Het
Noto	T	C	6: 85,401,192 (GRCm39)	S74P	probably benign	Het
Nudt4	T	C	10: 95,385,236 (GRCm39)	N152D	possibly damaging	Het
Nup155	T	TTTTG	15: 8,148,660 (GRCm39)		probably benign	Het
Nusap1	AGCTGAGA	AGCTGAGATACACGTTAGCAGTGAGGAGCAGGCTGAGA	2: 119,458,084 (GRCm39)		probably benign	Het
Or10al2	A	C	17: 37,983,749 (GRCm39)	K278N	probably damaging	Het
Or2d4	T	A	7: 106,543,855 (GRCm39)	M118L	probably damaging	Het
Or2t48	CA	C	11: 58,419,983 (GRCm39)		probably null	Het
Or51f1e	GTTAT	GTTATTAT	7: 102,747,512 (GRCm39)			Het
Or51f1e	TTA	TTAGTA	7: 102,747,513 (GRCm39)		probably null	Het
Or7g16	T	C	9: 18,726,778 (GRCm39)	T271A	probably benign	Het
Or9a7	T	C	6: 40,521,296 (GRCm39)	I206V	probably benign	Het
Plxnc1	T	C	10: 94,630,306 (GRCm39)	Y1531C	probably damaging	Het
Pnma8b	TGA	TGAAGA	7: 16,679,941 (GRCm39)		probably benign	Het
Rp1	A	G	1: 4,414,917 (GRCm39)	V2065A	probably damaging	Het
Sbp	AAGATGCTGACAACA	AAGATGCTGACAACAGAGATGCTGACAACA	17: 24,164,343 (GRCm39)		probably benign	Het
Sepsecs	G	A	5: 52,804,533 (GRCm39)	T379M	probably benign	Het
Sfswap	GGCC	GGCCCACTCTGCC	5: 129,646,828 (GRCm39)		probably benign	Het
Six3	GCG	GCGTCG	17: 85,928,798 (GRCm39)		probably benign	Het
Tfeb	C	T	17: 48,099,003 (GRCm39)	T259I	possibly damaging	Het
Tgoln1	A	AAACTCAG	6: 72,593,335 (GRCm39)		probably null	Het
Tmem94	G	A	11: 115,686,958 (GRCm39)	V1108M	probably damaging	Het
Usp35	T	C	7: 96,971,303 (GRCm39)	K297E	possibly damaging	Het
Vcpkmt	T	A	12: 69,629,598 (GRCm39)	T55S	possibly damaging	Het
Zfp384	GCCCAGGCCCAG	GCCCAGGCCCAGTCCCAGGCCCAG	6: 125,013,446 (GRCm39)		probably benign	Het
Zfp384	GCCCAGGCCCAGGCCCAGGCCCAG	GCCCAGGCCCAGTCCCAGGCCCAGGCCCAGGCCCAG	6: 125,013,434 (GRCm39)		probably benign	Het
Zfp384	GGCCC	GGCCCTGGCCCAAGCCC	6: 125,013,439 (GRCm39)		probably benign	Het
Zfp407	A	T	18: 84,227,688 (GRCm39)	S1974T	probably benign	Het
Zfp677	T	C	17: 21,617,704 (GRCm39)	S254P	probably damaging	Het

Other mutations in Grip2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01141:Grip2	APN	6	91,759,878 (GRCm39)	missense	probably benign	0.00
IGL01748:Grip2	APN	6	91,741,724 (GRCm39)	missense	probably damaging	1.00
IGL01838:Grip2	APN	6	91,741,744 (GRCm39)	missense	possibly damaging	0.92
IGL02392:Grip2	APN	6	91,764,276 (GRCm39)	missense	probably damaging	1.00
IGL02620:Grip2	APN	6	91,755,587 (GRCm39)	missense	possibly damaging	0.93
IGL02862:Grip2	APN	6	91,765,085 (GRCm39)	missense	probably damaging	0.98
IGL03027:Grip2	APN	6	91,755,852 (GRCm39)	missense	probably benign	0.02
IGL03180:Grip2	APN	6	91,762,742 (GRCm39)	splice site	probably benign
R0265:Grip2	UTSW	6	91,750,773 (GRCm39)	critical splice donor site	probably null
R0448:Grip2	UTSW	6	91,756,194 (GRCm39)	missense	probably damaging	1.00
R0597:Grip2	UTSW	6	91,773,178 (GRCm39)	intron	probably benign
R1405:Grip2	UTSW	6	91,765,133 (GRCm39)	splice site	probably null
R1405:Grip2	UTSW	6	91,765,133 (GRCm39)	splice site	probably null
R1466:Grip2	UTSW	6	91,765,424 (GRCm39)	missense	probably damaging	0.98
R1466:Grip2	UTSW	6	91,765,424 (GRCm39)	missense	probably damaging	0.98
R1664:Grip2	UTSW	6	91,742,233 (GRCm39)	missense	probably damaging	1.00
R1703:Grip2	UTSW	6	91,754,379 (GRCm39)	missense	probably damaging	1.00
R1793:Grip2	UTSW	6	91,760,623 (GRCm39)	missense	probably benign	0.03
R1951:Grip2	UTSW	6	91,760,829 (GRCm39)	missense	probably damaging	1.00
R2001:Grip2	UTSW	6	91,756,831 (GRCm39)	missense	probably benign	0.00
R4730:Grip2	UTSW	6	91,762,693 (GRCm39)	makesense	probably null
R4754:Grip2	UTSW	6	91,756,173 (GRCm39)	missense	probably damaging	0.97
R4754:Grip2	UTSW	6	91,756,163 (GRCm39)	missense	probably damaging	1.00
R4773:Grip2	UTSW	6	91,759,413 (GRCm39)	missense	possibly damaging	0.80
R5135:Grip2	UTSW	6	91,750,897 (GRCm39)	missense	possibly damaging	0.89
R5213:Grip2	UTSW	6	91,756,812 (GRCm39)	missense	probably benign	0.04
R5972:Grip2	UTSW	6	91,784,262 (GRCm39)	missense	probably benign	0.01
R6176:Grip2	UTSW	6	91,756,832 (GRCm39)	missense	probably benign	0.00
R6188:Grip2	UTSW	6	91,740,514 (GRCm39)	missense	probably damaging	1.00
R6289:Grip2	UTSW	6	91,755,852 (GRCm39)	missense	probably benign	0.02
R6345:Grip2	UTSW	6	91,742,369 (GRCm39)	missense	possibly damaging	0.91
R6348:Grip2	UTSW	6	91,757,419 (GRCm39)	missense	probably damaging	0.99
R6394:Grip2	UTSW	6	91,764,182 (GRCm39)	missense	probably damaging	1.00
R6658:Grip2	UTSW	6	91,763,472 (GRCm39)	missense	probably damaging	1.00
R7065:Grip2	UTSW	6	91,760,550 (GRCm39)	critical splice donor site	probably null
R7074:Grip2	UTSW	6	91,761,689 (GRCm39)	missense	probably benign	0.24
R7308:Grip2	UTSW	6	91,755,669 (GRCm39)	missense	possibly damaging	0.74
R7607:Grip2	UTSW	6	91,765,393 (GRCm39)	missense	probably benign
R7617:Grip2	UTSW	6	91,742,031 (GRCm39)	splice site	probably null
R7970:Grip2	UTSW	6	91,763,513 (GRCm39)	missense	probably benign	0.07
R8221:Grip2	UTSW	6	91,762,665 (GRCm39)	missense	possibly damaging	0.90
R8549:Grip2	UTSW	6	91,750,769 (GRCm39)	splice site	probably null
R8838:Grip2	UTSW	6	91,762,721 (GRCm39)	utr 3 prime	probably benign
R8962:Grip2	UTSW	6	91,754,391 (GRCm39)	missense	probably damaging	1.00
R9430:Grip2	UTSW	6	91,784,265 (GRCm39)	missense	probably benign	0.05
R9699:Grip2	UTSW	6	91,742,318 (GRCm39)	missense	probably benign
R9732:Grip2	UTSW	6	91,761,686 (GRCm39)	missense	probably damaging	0.99
Z1176:Grip2	UTSW	6	91,740,491 (GRCm39)	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