Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01748:Grip2'

153070

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL01748

Quality Score

Status

Chromosome

Chromosomal Location

91738490-91804231 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 91741724 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 934 (G934R)

Ref Sequence

ENSEMBL: ENSMUSP00000125047 (fasta)

Gene Model

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

AlphaFold

G3XA20

Predicted Effect

probably damaging
Transcript: ENSMUST00000159684
AA Change: G934R

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

SMART Domains

Protein: ENSMUSP00000125047
Gene: ENSMUSG00000030098
AA Change: G934R

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: 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 damaging
Transcript: ENSMUST00000162300
AA Change: G975R

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

SMART Domains

Protein: ENSMUSP00000124709
Gene: ENSMUSG00000030098
AA Change: G975R

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

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: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb1	T	C	15: 74,420,206 (GRCm39)		probably benign	Het
Asb1	G	A	1: 91,480,008 (GRCm39)	V236I	probably damaging	Het
Bod1l	G	A	5: 41,974,304 (GRCm39)	R2337C	probably benign	Het
Fermt3	A	T	19: 6,980,834 (GRCm39)		probably null	Het
Foxred2	T	C	15: 77,836,546 (GRCm39)	D323G	probably damaging	Het
Fry	A	G	5: 150,269,116 (GRCm39)		probably benign	Het
Galnt11	T	A	5: 25,452,513 (GRCm39)	Y8*	probably null	Het
Gm42688	T	A	6: 83,080,001 (GRCm39)	S275T	possibly damaging	Het
Igkv1-122	G	T	6: 67,994,456 (GRCm39)	V115F	possibly damaging	Het
Iglon5	C	T	7: 43,125,953 (GRCm39)		probably benign	Het
Nbl1	G	T	4: 138,810,921 (GRCm39)		probably benign	Het
Nup107	A	G	10: 117,593,179 (GRCm39)	V833A	probably benign	Het
Or4k41	T	C	2: 111,279,875 (GRCm39)	L130P	probably damaging	Het
Psg18	T	C	7: 18,087,476 (GRCm39)	N61D	probably benign	Het
Rfng	A	G	11: 120,674,569 (GRCm39)	M104T	probably benign	Het
Scn10a	A	G	9: 119,456,150 (GRCm39)	F1224S	probably damaging	Het
Strn4	C	T	7: 16,572,227 (GRCm39)	P647S	probably damaging	Het
Tbc1d2	A	G	4: 46,616,306 (GRCm39)	V474A	probably damaging	Het
Trav13n-4	A	T	14: 53,601,470 (GRCm39)	T80S	probably benign	Het
Trrap	A	G	5: 144,770,150 (GRCm39)	E2757G	probably damaging	Het
Vmn1r43	G	T	6: 89,847,294 (GRCm39)	T64N	probably damaging	Het
Vmn2r108	A	T	17: 20,683,476 (GRCm39)	I576N	probably benign	Het
Vmn2r65	A	T	7: 84,589,507 (GRCm39)	I803N	probably damaging	Het
Zfp341	T	C	2: 154,470,847 (GRCm39)	V288A	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
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
RF003:Grip2	UTSW	6	91,760,574 (GRCm39)	missense	probably benign	0.02
Z1176:Grip2	UTSW	6	91,740,491 (GRCm39)	missense	possibly damaging	0.55

Posted On

2014-02-04