Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03221:Grip1'

413661

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Grip1

Ensembl Gene

ENSMUSG00000034813

Gene Name

glutamate receptor interacting protein 1

Synonyms

4931400F03Rik, eb

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03221

Quality Score

Status

Chromosome

Chromosomal Location

119289810-119923172 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 119822299 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 342 (M342L)

Ref Sequence

ENSEMBL: ENSMUSP00000121670 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041962] [ENSMUST00000077871] [ENSMUST00000105262] [ENSMUST00000138410] [ENSMUST00000144825] [ENSMUST00000147356] [ENSMUST00000147454] [ENSMUST00000148954] [ENSMUST00000144959]

AlphaFold

Q925T6

Predicted Effect

probably benign
Transcript: ENSMUST00000041962
AA Change: M370L

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

SMART Domains

Protein: ENSMUSP00000042436
Gene: ENSMUSG00000034813
AA Change: M370L

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	354	367	N/A	INTRINSIC
low complexity region	388	405	N/A	INTRINSIC
low complexity region	413	424	N/A	INTRINSIC
PDZ	429	509	6.36e-17	SMART
PDZ	530	606	1.11e-16	SMART
PDZ	629	703	1.73e-18	SMART
PDZ	947	1019	2.79e-13	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000077871
AA Change: M343L

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

SMART Domains

Protein: ENSMUSP00000077033
Gene: ENSMUSG00000034813
AA Change: M343L

Domain	Start	End	E-Value	Type
PDZ	36	110	4.86e-13	SMART
PDZ	134	212	6.4e-22	SMART
PDZ	235	310	1.97e-13	SMART
low complexity region	327	340	N/A	INTRINSIC
low complexity region	361	378	N/A	INTRINSIC
low complexity region	386	397	N/A	INTRINSIC
PDZ	402	482	6.36e-17	SMART
PDZ	503	579	1.11e-16	SMART
PDZ	602	676	1.73e-18	SMART
PDZ	920	992	2.79e-13	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000105262
AA Change: M369L

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

SMART Domains

Protein: ENSMUSP00000100897
Gene: ENSMUSG00000034813
AA Change: M369L

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	353	366	N/A	INTRINSIC
low complexity region	387	404	N/A	INTRINSIC
low complexity region	412	423	N/A	INTRINSIC
PDZ	428	508	6.36e-17	SMART
PDZ	529	605	1.11e-16	SMART
PDZ	628	702	1.73e-18	SMART
PDZ	946	1018	2.79e-13	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127787

Predicted Effect

probably benign
Transcript: ENSMUST00000138410
AA Change: M421L

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

SMART Domains

Protein: ENSMUSP00000123234
Gene: ENSMUSG00000034813
AA Change: M421L

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	1013	1085	2.79e-13	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139352

Predicted Effect

probably benign
Transcript: ENSMUST00000144825
AA Change: M342L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000121670
Gene: ENSMUSG00000034813
AA Change: M342L

Domain	Start	End	E-Value	Type
PDZ	35	109	4.86e-13	SMART
PDZ	133	211	6.4e-22	SMART
PDZ	234	309	1.97e-13	SMART
low complexity region	326	339	N/A	INTRINSIC
low complexity region	360	377	N/A	INTRINSIC
low complexity region	385	396	N/A	INTRINSIC
PDZ	401	481	6.36e-17	SMART
PDZ	502	578	1.11e-16	SMART
PDZ	601	675	1.73e-18	SMART
PDZ	919	991	2.79e-13	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000147356
AA Change: M422L

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

SMART Domains

Protein: ENSMUSP00000115478
Gene: ENSMUSG00000034813
AA Change: M422L

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

probably benign
Transcript: ENSMUST00000147454
AA Change: M421L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000118073
Gene: ENSMUSG00000034813
AA Change: M421L

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: ENSMUST00000148954
AA Change: M369L

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

SMART Domains

Protein: ENSMUSP00000118397
Gene: ENSMUSG00000034813
AA Change: M369L

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	353	366	N/A	INTRINSIC
low complexity region	387	404	N/A	INTRINSIC
low complexity region	412	423	N/A	INTRINSIC
PDZ	428	508	6.36e-17	SMART
PDZ	529	605	1.11e-16	SMART
PDZ	628	702	1.73e-18	SMART
PDZ	961	1033	2.79e-13	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000144959
AA Change: M421L

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

SMART Domains

Protein: ENSMUSP00000122323
Gene: ENSMUSG00000034813
AA Change: M421L

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

noncoding transcript
Transcript: ENSMUST00000147598

Coding Region Coverage

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp2b2	C	T	6: 113,737,820 (GRCm39)		probably benign	Het
BC051665	T	A	13: 60,932,242 (GRCm39)	K116*	probably null	Het
Birc6	A	T	17: 74,934,002 (GRCm39)	T2538S	probably benign	Het
Btn2a2	A	G	13: 23,662,619 (GRCm39)	S435P	probably damaging	Het
Efhb	A	G	17: 53,706,014 (GRCm39)	L841P	probably damaging	Het
Etv4	C	T	11: 101,664,988 (GRCm39)	R155K	probably damaging	Het
Fnbp4	T	A	2: 90,608,062 (GRCm39)	M928K	possibly damaging	Het
Grin2c	A	G	11: 115,144,870 (GRCm39)		probably benign	Het
H60c	T	A	10: 3,209,799 (GRCm39)	K163*	probably null	Het
Hycc2	C	A	1: 58,579,345 (GRCm39)	V231L	probably benign	Het
Lilrb4b	A	G	10: 51,357,524 (GRCm39)		probably benign	Het
Lyl1	C	T	8: 85,429,300 (GRCm39)	P3L	possibly damaging	Het
Mast4	A	G	13: 102,890,764 (GRCm39)	V838A	possibly damaging	Het
Mypn	C	A	10: 62,966,902 (GRCm39)	D925Y	probably damaging	Het
Nol6	T	C	4: 41,124,166 (GRCm39)	D27G	probably benign	Het
Or4c105	T	C	2: 88,647,781 (GRCm39)	S89P	possibly damaging	Het
Or5b97	G	T	19: 12,878,905 (GRCm39)	P80T	probably damaging	Het
Or8b51	A	T	9: 38,569,661 (GRCm39)	V9E	probably damaging	Het
Pik3c2g	A	G	6: 139,718,133 (GRCm39)		probably null	Het
Pik3c3	G	T	18: 30,435,984 (GRCm39)	M394I	probably benign	Het
Rfx7	C	T	9: 72,526,088 (GRCm39)	R1093C	probably damaging	Het
Scin	A	G	12: 40,126,973 (GRCm39)	V458A	probably benign	Het
Slc34a1	T	C	13: 55,548,591 (GRCm39)	V39A	probably benign	Het
Slc6a4	A	G	11: 76,917,931 (GRCm39)	M558V	probably benign	Het
Smpx	T	C	X: 156,503,994 (GRCm39)	V65A	probably damaging	Het
Tmem200a	A	T	10: 25,869,922 (GRCm39)	F116I	possibly damaging	Het
Tnfrsf19	A	T	14: 61,262,227 (GRCm39)	V12E	probably benign	Het
Trpc1	C	T	9: 95,588,953 (GRCm39)	R757H	probably damaging	Het
Ttc38	T	A	15: 85,718,742 (GRCm39)	S51T	probably benign	Het
Wee1	G	A	7: 109,726,024 (GRCm39)	C378Y	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
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
R5291:Grip1	UTSW	10	119,922,874 (GRCm39)	missense	probably benign	0.04
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

Posted On

2016-08-02