Mutagenetix > Incidental Mutation

Incidental Mutation 'R5291:Grip1'

405158

Institutional Source

Beutler Lab

Gene Symbol

Grip1

Ensembl Gene

ENSMUSG00000034813

Gene Name

glutamate receptor interacting protein 1

Synonyms

4931400F03Rik, eb

MMRRC Submission

042874-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5291 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

119289810-119923172 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 119922874 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 1107 (V1107I)

Ref Sequence

ENSEMBL: ENSMUSP00000115478 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020449] [ENSMUST00000081260] [ENSMUST00000130387] [ENSMUST00000144959] [ENSMUST00000147356] [ENSMUST00000154501]

AlphaFold

Q925T6

Predicted Effect

probably benign
Transcript: ENSMUST00000020449

SMART Domains

Protein: ENSMUSP00000020449
Gene: ENSMUSG00000020228

Domain	Start	End	E-Value	Type
low complexity region	20	43	N/A	INTRINSIC
Pfam:AAA_30	434	661	4.8e-24	PFAM
Pfam:UvrD_C_2	855	901	2.3e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000081260

SMART Domains

Protein: ENSMUSP00000080016
Gene: ENSMUSG00000034813

Domain	Start	End	E-Value	Type
low complexity region	49	60	N/A	INTRINSIC
PDZ	65	145	3e-19	SMART
PDZ	166	242	5.2e-19	SMART
PDZ	265	339	8.4e-21	SMART
PDZ	518	590	1.4e-15	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000130387
AA Change: V691I

SMART Domains

Protein: ENSMUSP00000123288
Gene: ENSMUSG00000034813
AA Change: V691I

Domain	Start	End	E-Value	Type
low complexity region	49	60	N/A	INTRINSIC
PDZ	65	145	6.36e-17	SMART
PDZ	166	242	1.11e-16	SMART
PDZ	265	339	1.73e-18	SMART
PDZ	583	655	2.79e-13	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000144959
AA Change: V1106I

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000122323
Gene: ENSMUSG00000034813
AA Change: V1106I

Domain	Start	End	E-Value	Type
PDZ	62	136	4.86e-13	SMART
PDZ	160	238	6.4e-22	SMART
PDZ	261	336	1.97e-13	SMART
low complexity region	393	421	N/A	INTRINSIC
low complexity region	439	456	N/A	INTRINSIC
low complexity region	464	475	N/A	INTRINSIC
PDZ	480	560	6.36e-17	SMART
PDZ	581	657	1.11e-16	SMART
PDZ	680	754	1.73e-18	SMART
PDZ	998	1070	2.79e-13	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000147356
AA Change: V1107I

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000115478
Gene: ENSMUSG00000034813
AA Change: V1107I

Domain	Start	End	E-Value	Type
PDZ	63	137	4.86e-13	SMART
PDZ	161	239	6.4e-22	SMART
PDZ	262	337	1.97e-13	SMART
low complexity region	394	422	N/A	INTRINSIC
low complexity region	440	457	N/A	INTRINSIC
low complexity region	465	476	N/A	INTRINSIC
PDZ	481	561	6.36e-17	SMART
PDZ	582	658	1.11e-16	SMART
PDZ	681	755	1.73e-18	SMART
PDZ	999	1071	2.79e-13	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148241

Predicted Effect

probably benign
Transcript: ENSMUST00000154501

SMART Domains

Protein: ENSMUSP00000116954
Gene: ENSMUSG00000020228

Domain	Start	End	E-Value	Type
low complexity region	20	43	N/A	INTRINSIC
Pfam:AAA_30	434	546	1.2e-8	PFAM

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a protein containing multiple PDZ (post synaptic density protein, Drosophila disc large tumor suppressor, and zonula occludens-1 protein) domains. The encoded protein acts as a mediator between cytoskeletal and membrane proteins, particularly in neuronal cells, and facilitates complex formation at the cell membrane. Mutation of this gene can cause embryonic lethality resulting from defects of the dermo-epidermal junction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]
PHENOTYPE: Homozygous ablation of gene function results in embryonic lethality and blistering skin lesions. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931414P19Rik	T	C	14: 54,823,394 (GRCm39)	S328G	probably damaging	Het
Acot5	T	G	12: 84,120,293 (GRCm39)	L216R	probably benign	Het
Ankrd6	A	G	4: 32,823,446 (GRCm39)	L192P	probably damaging	Het
Atp6v1e1	C	A	6: 120,795,294 (GRCm39)		probably null	Het
Bbs9	T	C	9: 22,540,293 (GRCm39)	Y358H	probably damaging	Het
Bend7	G	A	2: 4,768,052 (GRCm39)	R336Q	probably damaging	Het
Camk2a	A	G	18: 61,090,236 (GRCm39)	K192R	probably damaging	Het
Ceacam1	T	A	7: 25,171,256 (GRCm39)	R223W	probably damaging	Het
Cntn6	T	A	6: 104,703,096 (GRCm39)	F173I	probably damaging	Het
Cntrl	A	C	2: 35,024,072 (GRCm39)	I33L	probably damaging	Het
Crybg2	T	C	4: 133,800,738 (GRCm39)	S633P	probably benign	Het
Cyp2j13	T	C	4: 95,956,566 (GRCm39)	H181R	probably damaging	Het
Dlgap1	A	G	17: 71,025,205 (GRCm39)	S542G	probably benign	Het
Dnm2	T	G	9: 21,390,203 (GRCm39)	L402R	probably damaging	Het
Fndc3b	C	A	3: 27,697,144 (GRCm39)	V23L	probably benign	Het
Gata4	A	C	14: 63,478,048 (GRCm39)	F184V	probably damaging	Het
Gcnt2	A	G	13: 41,072,268 (GRCm39)	R304G	probably damaging	Het
Gm10563	TTTC	TTTCCTTC	4: 155,698,969 (GRCm39)		probably benign	Het
Gm26558	G	A	2: 70,491,873 (GRCm39)		probably benign	Het
Herpud2	C	T	9: 25,036,256 (GRCm39)	G135S	probably benign	Het
Lrp1	A	G	10: 127,429,747 (GRCm39)	I441T	probably damaging	Het
Lrp1b	T	C	2: 40,793,015 (GRCm39)	D2553G	probably damaging	Het
Mkln1	T	A	6: 31,467,416 (GRCm39)	N43K	possibly damaging	Het
Or4c12	A	T	2: 89,773,780 (GRCm39)	Y226*	probably null	Het
Or5k17	T	C	16: 58,746,764 (GRCm39)	T57A	possibly damaging	Het
Paxbp1	C	T	16: 90,841,240 (GRCm39)	M1I	probably null	Het
Phip	A	G	9: 82,827,936 (GRCm39)	Y97H	probably damaging	Het
Plec	T	A	15: 76,058,211 (GRCm39)	I3774F	probably damaging	Het
Pramel11	G	T	4: 143,622,237 (GRCm39)	P373T	probably damaging	Het
Prrc2c	C	A	1: 162,533,151 (GRCm39)		probably benign	Het
Prss12	T	C	3: 123,299,112 (GRCm39)	L628P	probably damaging	Het
Ptpre	G	A	7: 135,280,030 (GRCm39)	V578I	probably benign	Het
Qsox2	A	T	2: 26,107,710 (GRCm39)	L261H	probably damaging	Het
Rapgef2	A	T	3: 78,977,366 (GRCm39)	V1327E	possibly damaging	Het
Rnf216	A	G	5: 143,075,967 (GRCm39)	S306P	probably benign	Het
Rtel1	A	G	2: 180,993,888 (GRCm39)	Q640R	possibly damaging	Het
Ryr1	T	A	7: 28,815,023 (GRCm39)	D175V	probably benign	Het
Scarf1	T	C	11: 75,414,900 (GRCm39)	S525P	probably damaging	Het
Senp7	T	A	16: 56,006,542 (GRCm39)	Y982*	probably null	Het
Slc35b2	T	C	17: 45,877,424 (GRCm39)	Y184H	probably damaging	Het
Sned1	A	G	1: 93,223,446 (GRCm39)	K1375E	possibly damaging	Het
Spats2	G	T	15: 99,076,422 (GRCm39)	A167S	probably benign	Het
Spen	C	A	4: 141,215,390 (GRCm39)	A481S	unknown	Het
Spred3	T	A	7: 28,867,255 (GRCm39)	H47L	probably damaging	Het
Srsf4	T	A	4: 131,613,617 (GRCm39)		probably benign	Het
Tdrd3	A	T	14: 87,743,234 (GRCm39)	H394L	probably benign	Het
Terf1	A	G	1: 15,889,310 (GRCm39)		probably null	Het
Txlnb	A	T	10: 17,675,144 (GRCm39)	D99V	possibly damaging	Het
Ugt1a7c	A	T	1: 88,023,231 (GRCm39)	N130I	possibly damaging	Het
Vmn2r50	T	A	7: 9,781,752 (GRCm39)	D331V	probably damaging	Het
Vps13d	A	G	4: 144,789,139 (GRCm39)	I744T	probably damaging	Het
Ythdc1	A	G	5: 86,983,547 (GRCm39)	D664G	probably damaging	Het

Other mutations in Grip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01309:Grip1	APN	10	119,767,207 (GRCm39)	nonsense	probably null
IGL01374:Grip1	APN	10	119,885,273 (GRCm39)	missense	probably benign	0.03
IGL01592:Grip1	APN	10	119,765,908 (GRCm39)	missense	probably damaging	1.00
IGL02207:Grip1	APN	10	119,911,214 (GRCm39)	missense	probably damaging	1.00
IGL02222:Grip1	APN	10	119,835,714 (GRCm39)	missense	probably damaging	1.00
IGL02225:Grip1	APN	10	119,885,358 (GRCm39)	missense	probably damaging	1.00
IGL02447:Grip1	APN	10	119,855,976 (GRCm39)	missense	probably damaging	1.00
IGL02492:Grip1	APN	10	119,765,945 (GRCm39)	splice site	probably benign
IGL02522:Grip1	APN	10	119,767,154 (GRCm39)	missense	probably damaging	1.00
IGL02574:Grip1	APN	10	119,778,818 (GRCm39)	missense	probably damaging	1.00
IGL02718:Grip1	APN	10	119,911,420 (GRCm39)	makesense	probably null
IGL02751:Grip1	APN	10	119,814,482 (GRCm39)	missense	probably benign	0.08
IGL03221:Grip1	APN	10	119,822,299 (GRCm39)	missense	probably benign	0.00
IGL03377:Grip1	APN	10	119,890,937 (GRCm39)	missense	probably damaging	0.98
PIT4403001:Grip1	UTSW	10	119,765,833 (GRCm39)	missense	probably damaging	1.00
R0304:Grip1	UTSW	10	119,911,376 (GRCm39)	missense	probably benign	0.31
R0681:Grip1	UTSW	10	119,846,135 (GRCm39)	missense	probably damaging	1.00
R0760:Grip1	UTSW	10	119,853,983 (GRCm39)	missense	probably damaging	0.96
R1457:Grip1	UTSW	10	119,822,255 (GRCm39)	missense	possibly damaging	0.73
R1506:Grip1	UTSW	10	119,814,356 (GRCm39)	missense	probably damaging	1.00
R1541:Grip1	UTSW	10	119,836,448 (GRCm39)	missense	probably damaging	0.99
R1553:Grip1	UTSW	10	119,890,756 (GRCm39)	missense	probably damaging	1.00
R1709:Grip1	UTSW	10	119,733,620 (GRCm39)	missense	probably damaging	0.98
R2055:Grip1	UTSW	10	119,885,416 (GRCm39)	splice site	probably benign
R2059:Grip1	UTSW	10	119,874,603 (GRCm39)	missense	possibly damaging	0.80
R2261:Grip1	UTSW	10	119,821,489 (GRCm39)	missense	probably benign	0.00
R2475:Grip1	UTSW	10	119,814,401 (GRCm39)	missense	probably benign	0.01
R3777:Grip1	UTSW	10	119,821,535 (GRCm39)	critical splice donor site	probably null
R3849:Grip1	UTSW	10	119,765,863 (GRCm39)	missense	probably damaging	1.00
R3956:Grip1	UTSW	10	119,765,931 (GRCm39)	missense	probably damaging	1.00
R4643:Grip1	UTSW	10	119,856,006 (GRCm39)	missense	probably damaging	1.00
R4693:Grip1	UTSW	10	119,836,459 (GRCm39)	missense	probably benign	0.10
R4724:Grip1	UTSW	10	119,874,588 (GRCm39)	missense	probably benign	0.02
R4843:Grip1	UTSW	10	119,765,920 (GRCm39)	missense	probably damaging	1.00
R4884:Grip1	UTSW	10	119,911,211 (GRCm39)	missense	probably damaging	1.00
R4912:Grip1	UTSW	10	119,767,153 (GRCm39)	missense	probably damaging	1.00
R5185:Grip1	UTSW	10	119,767,164 (GRCm39)	missense	probably benign	0.37
R5293:Grip1	UTSW	10	119,733,640 (GRCm39)	missense	probably damaging	0.99
R5296:Grip1	UTSW	10	119,765,833 (GRCm39)	missense	probably damaging	1.00
R5302:Grip1	UTSW	10	119,855,982 (GRCm39)	missense	probably damaging	1.00
R5541:Grip1	UTSW	10	119,908,623 (GRCm39)	missense	probably damaging	1.00
R5792:Grip1	UTSW	10	119,821,385 (GRCm39)	missense	probably benign	0.07
R5861:Grip1	UTSW	10	119,765,875 (GRCm39)	missense	probably damaging	1.00
R5905:Grip1	UTSW	10	119,821,397 (GRCm39)	missense	probably benign	0.02
R5949:Grip1	UTSW	10	119,886,147 (GRCm39)	missense	probably benign	0.00
R6112:Grip1	UTSW	10	119,829,137 (GRCm39)	missense	probably benign	0.00
R6166:Grip1	UTSW	10	119,908,623 (GRCm39)	missense	probably damaging	1.00
R6167:Grip1	UTSW	10	119,733,702 (GRCm39)	critical splice donor site	probably null
R6193:Grip1	UTSW	10	119,874,219 (GRCm39)	missense	probably damaging	1.00
R6218:Grip1	UTSW	10	119,822,251 (GRCm39)	missense	possibly damaging	0.95
R6267:Grip1	UTSW	10	119,911,369 (GRCm39)	nonsense	probably null
R6296:Grip1	UTSW	10	119,911,369 (GRCm39)	nonsense	probably null
R6490:Grip1	UTSW	10	119,822,329 (GRCm39)	missense	possibly damaging	0.82
R6543:Grip1	UTSW	10	119,821,499 (GRCm39)	missense	probably benign	0.00
R6558:Grip1	UTSW	10	119,290,288 (GRCm39)	missense	probably benign	0.00
R6995:Grip1	UTSW	10	119,822,375 (GRCm39)	missense	probably damaging	0.99
R7122:Grip1	UTSW	10	119,871,279 (GRCm39)	missense	possibly damaging	0.48
R7157:Grip1	UTSW	10	119,781,061 (GRCm39)	missense	probably damaging	1.00
R7410:Grip1	UTSW	10	119,855,925 (GRCm39)	missense	probably benign	0.01
R7447:Grip1	UTSW	10	119,922,871 (GRCm39)	missense	probably benign	0.01
R7539:Grip1	UTSW	10	119,890,776 (GRCm39)	missense	probably benign	0.17
R7586:Grip1	UTSW	10	119,913,043 (GRCm39)	splice site	probably null
R7768:Grip1	UTSW	10	119,874,302 (GRCm39)	missense	probably damaging	0.98
R7831:Grip1	UTSW	10	119,854,011 (GRCm39)	missense	probably damaging	1.00
R7896:Grip1	UTSW	10	119,814,450 (GRCm39)	missense	possibly damaging	0.53
R8103:Grip1	UTSW	10	119,814,440 (GRCm39)	missense	probably benign	0.00
R8254:Grip1	UTSW	10	119,890,810 (GRCm39)	nonsense	probably null
R8688:Grip1	UTSW	10	119,835,809 (GRCm39)	missense	probably benign	0.12
R8823:Grip1	UTSW	10	119,811,856 (GRCm39)	missense
R8837:Grip1	UTSW	10	119,765,940 (GRCm39)	missense	probably damaging	1.00
R8885:Grip1	UTSW	10	119,290,192 (GRCm39)	start gained	probably benign
R8951:Grip1	UTSW	10	119,874,509 (GRCm39)	missense	possibly damaging	0.85
R9042:Grip1	UTSW	10	119,836,438 (GRCm39)	missense	probably benign	0.14
R9045:Grip1	UTSW	10	119,871,356 (GRCm39)	missense	probably damaging	0.97
R9237:Grip1	UTSW	10	119,911,310 (GRCm39)	missense	probably benign	0.07
R9254:Grip1	UTSW	10	119,780,961 (GRCm39)	missense	probably damaging	1.00
R9259:Grip1	UTSW	10	119,874,569 (GRCm39)	missense	possibly damaging	0.63
R9260:Grip1	UTSW	10	119,874,569 (GRCm39)	missense	possibly damaging	0.63
R9307:Grip1	UTSW	10	119,821,454 (GRCm39)	missense	probably benign	0.01
R9379:Grip1	UTSW	10	119,780,961 (GRCm39)	missense	probably damaging	1.00
R9546:Grip1	UTSW	10	119,874,569 (GRCm39)	missense	possibly damaging	0.63
R9547:Grip1	UTSW	10	119,874,569 (GRCm39)	missense	possibly damaging	0.63
R9548:Grip1	UTSW	10	119,874,569 (GRCm39)	missense	possibly damaging	0.63
R9549:Grip1	UTSW	10	119,874,569 (GRCm39)	missense	possibly damaging	0.63
R9583:Grip1	UTSW	10	119,874,569 (GRCm39)	missense	possibly damaging	0.63
R9584:Grip1	UTSW	10	119,874,569 (GRCm39)	missense	possibly damaging	0.63
R9610:Grip1	UTSW	10	119,874,569 (GRCm39)	missense	possibly damaging	0.63
R9611:Grip1	UTSW	10	119,874,569 (GRCm39)	missense	possibly damaging	0.63
R9612:Grip1	UTSW	10	119,874,569 (GRCm39)	missense	possibly damaging	0.63
R9684:Grip1	UTSW	10	119,874,569 (GRCm39)	missense	possibly damaging	0.63
R9687:Grip1	UTSW	10	119,874,569 (GRCm39)	missense	possibly damaging	0.63
R9690:Grip1	UTSW	10	119,874,569 (GRCm39)	missense	possibly damaging	0.63
R9691:Grip1	UTSW	10	119,874,569 (GRCm39)	missense	possibly damaging	0.63
R9742:Grip1	UTSW	10	119,874,569 (GRCm39)	missense	possibly damaging	0.63
R9744:Grip1	UTSW	10	119,874,569 (GRCm39)	missense	possibly damaging	0.63
R9752:Grip1	UTSW	10	119,871,256 (GRCm39)	missense	possibly damaging	0.46
R9758:Grip1	UTSW	10	119,874,569 (GRCm39)	missense	possibly damaging	0.63
R9762:Grip1	UTSW	10	119,811,906 (GRCm39)	missense	possibly damaging	0.92
R9764:Grip1	UTSW	10	119,874,569 (GRCm39)	missense	possibly damaging	0.63
RF011:Grip1	UTSW	10	119,767,220 (GRCm39)	missense	probably null	0.97
Z1176:Grip1	UTSW	10	119,655,388 (GRCm39)	unclassified	probably benign
Z1177:Grip1	UTSW	10	119,822,349 (GRCm39)	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- TTTCTCAGAGCTCAGCCATG -3'
(R):5'- AAAGGCAGTGTTCCTCAGCC -3'

Sequencing Primer
(F):5'- AGAGCTCAGCCATGCATGC -3'
(R):5'- AGTGTTCCTCAGCCCCAGG -3'

Posted On

2016-07-22