Mutagenetix > Incidental Mutation

Incidental Mutation 'R2475:Grip1'

253348

Institutional Source

Beutler Lab

Gene Symbol

Grip1

Ensembl Gene

ENSMUSG00000034813

Gene Name

glutamate receptor interacting protein 1

Synonyms

4931400F03Rik, eb

MMRRC Submission

040406-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2475 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

119289810-119923172 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 119814401 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 311 (Y311H)

Ref Sequence

ENSEMBL: ENSMUSP00000122323 (fasta)

Gene Model

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

AlphaFold

Q925T6

Predicted Effect

probably benign
Transcript: ENSMUST00000041962
AA Change: Y312H

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

SMART Domains

Protein: ENSMUSP00000042436
Gene: ENSMUSG00000034813
AA Change: Y312H

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: Y285H

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

SMART Domains

Protein: ENSMUSP00000077033
Gene: ENSMUSG00000034813
AA Change: Y285H

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: Y311H

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

SMART Domains

Protein: ENSMUSP00000100897
Gene: ENSMUSG00000034813
AA Change: Y311H

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: Y311H

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

SMART Domains

Protein: ENSMUSP00000123234
Gene: ENSMUSG00000034813
AA Change: Y311H

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: Y284H

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000121670
Gene: ENSMUSG00000034813
AA Change: Y284H

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: ENSMUST00000144959
AA Change: Y311H

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

SMART Domains

Protein: ENSMUSP00000122323
Gene: ENSMUSG00000034813
AA Change: Y311H

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: Y312H

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

SMART Domains

Protein: ENSMUSP00000115478
Gene: ENSMUSG00000034813
AA Change: Y312H

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: Y311H

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

SMART Domains

Protein: ENSMUSP00000118073
Gene: ENSMUSG00000034813
AA Change: Y311H

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

Predicted Effect

probably benign
Transcript: ENSMUST00000148954
AA Change: Y311H

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

SMART Domains

Protein: ENSMUSP00000118397
Gene: ENSMUSG00000034813
AA Change: Y311H

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

Meta Mutation Damage Score

0.0908

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.7%

Validation Efficiency

100% (32/32)

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1a1	T	A	19: 20,617,442 (GRCm39)	M458K	probably benign	Het
Atic	C	T	1: 71,598,428 (GRCm39)	R64C	probably damaging	Het
Atp7b	C	T	8: 22,484,792 (GRCm39)	V1307M	possibly damaging	Het
Bbx	C	A	16: 50,040,882 (GRCm39)	R707L	probably damaging	Het
Ccdc28b	A	T	4: 129,514,445 (GRCm39)		probably null	Het
Gm21136	T	A	7: 38,567,258 (GRCm39)	T57S	probably damaging	Het
Gm5862	G	A	5: 26,224,490 (GRCm39)	L160F	probably damaging	Het
Gpsm3	A	G	17: 34,809,534 (GRCm39)	T47A	possibly damaging	Het
Inpp4b	T	A	8: 82,768,607 (GRCm39)	N705K	probably benign	Het
Lingo1	T	A	9: 56,526,910 (GRCm39)	I560F	probably benign	Het
Man2b2	A	G	5: 36,965,219 (GRCm39)	V958A	probably benign	Het
Mavs	G	T	2: 131,082,370 (GRCm39)	A85S	probably damaging	Het
Nipbl	A	T	15: 8,364,490 (GRCm39)	C1305S	probably benign	Het
Or14j9	A	G	17: 37,874,602 (GRCm39)	V200A	probably benign	Het
Phf19	C	T	2: 34,785,807 (GRCm39)	R554Q	probably benign	Het
Pramel24	T	A	4: 143,453,395 (GRCm39)	Y168N	probably benign	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Trpm8	A	G	1: 88,282,171 (GRCm39)	D689G	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ttn	A	G	2: 76,703,094 (GRCm39)		probably benign	Het
Wrnip1	G	A	13: 32,990,941 (GRCm39)	R400H	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- CCCACCCCAAAATGTTTAAGGG -3'
(R):5'- CTCTGGAGGAAGAAGACTGC -3'

Sequencing Primer
(F):5'- TCAGATCCAGCCTAAAATATAACAGG -3'
(R):5'- CTCTGGAGGAAGAAGACTGCAAGAG -3'

Posted On

2014-12-04