Mutagenetix > Incidental Mutation

Incidental Mutation 'R6558:Grip1'

522260

Institutional Source

Beutler Lab

Gene Symbol

Grip1

Ensembl Gene

ENSMUSG00000034813

Gene Name

glutamate receptor interacting protein 1

Synonyms

4931400F03Rik, eb

MMRRC Submission

044682-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6558 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119289810-119923172 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 119290288 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 7 (N7D)

Ref Sequence

ENSEMBL: ENSMUSP00000077033 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041962] [ENSMUST00000077871] [ENSMUST00000147356]

AlphaFold

Q925T6

Predicted Effect

probably benign
Transcript: ENSMUST00000041962
AA Change: N7D

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

SMART Domains

Protein: ENSMUSP00000042436
Gene: ENSMUSG00000034813
AA Change: N7D

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: N7D

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000077033
Gene: ENSMUSG00000034813
AA Change: N7D

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

noncoding transcript
Transcript: ENSMUST00000127706

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146294

Predicted Effect

probably benign
Transcript: ENSMUST00000147356
AA Change: N7D

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

SMART Domains

Protein: ENSMUSP00000115478
Gene: ENSMUSG00000034813
AA Change: N7D

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: ENSMUST00000154566

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.6%

Validation Efficiency

100% (31/31)

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahi1	T	C	10: 20,839,572 (GRCm39)	V161A	probably damaging	Het
Anxa3	A	G	5: 96,960,798 (GRCm39)		probably null	Het
Cftr	T	C	6: 18,222,527 (GRCm39)	I261T	probably damaging	Het
Chml	A	T	1: 175,514,748 (GRCm39)	M391K	probably damaging	Het
Cog2	T	C	8: 125,276,971 (GRCm39)	L659P	probably damaging	Het
Col5a3	C	T	9: 20,690,329 (GRCm39)	G1162R	probably damaging	Het
Cxcl2	T	C	5: 91,052,224 (GRCm39)	L71P	probably damaging	Het
Cxcl5	A	G	5: 90,907,677 (GRCm39)	E83G	probably damaging	Het
Dpt	A	G	1: 164,624,380 (GRCm39)	Y27C	unknown	Het
Drc3	A	T	11: 60,255,718 (GRCm39)	I102F	probably damaging	Het
Fam83h	T	C	15: 75,876,302 (GRCm39)	D345G	probably damaging	Het
Gm14412	G	T	2: 177,006,347 (GRCm39)	T516K	probably damaging	Het
Hoxc11	T	C	15: 102,863,301 (GRCm39)	L114P	probably damaging	Het
Htr7	T	C	19: 36,034,640 (GRCm39)	N5S	probably damaging	Het
Ifi208	C	T	1: 173,510,589 (GRCm39)	T248I	probably damaging	Het
Lrrc71	G	A	3: 87,649,950 (GRCm39)	T326M	probably benign	Het
Map7d1	G	A	4: 126,126,702 (GRCm39)	A798V	unknown	Het
Mfsd13a	T	A	19: 46,354,917 (GRCm39)	N31K	probably damaging	Het
Myadm	T	A	7: 3,345,577 (GRCm39)	I113N	probably damaging	Het
Myo18a	A	G	11: 77,741,678 (GRCm39)	E1509G	probably damaging	Het
Nalcn	C	G	14: 123,723,919 (GRCm39)	R382P	probably benign	Het
Ogfr	C	T	2: 180,237,197 (GRCm39)	P594L	possibly damaging	Het
Or2r11	T	A	6: 42,437,711 (GRCm39)	M81L	probably benign	Het
Or5p80	T	A	7: 108,229,395 (GRCm39)	H65Q	probably damaging	Het
Pkd1l1	C	T	11: 8,839,052 (GRCm39)	M877I	probably benign	Het
Sec23a	A	T	12: 59,051,338 (GRCm39)	S102T	probably benign	Het
Stoml1	T	A	9: 58,163,951 (GRCm39)	V90E	probably damaging	Het
Stra8	G	A	6: 34,909,975 (GRCm39)	W111*	probably null	Het
Timeless	T	A	10: 128,085,432 (GRCm39)	V850D	probably benign	Het
Unc5c	A	T	3: 141,495,490 (GRCm39)	D453V	probably damaging	Het
Xdh	T	G	17: 74,200,708 (GRCm39)	T1138P	possibly damaging	Het
Zkscan6	A	T	11: 65,719,051 (GRCm39)	H357L	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
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
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'- TCAATGTATCGGGGAGTCGC -3'
(R):5'- TTTCCCCGGGCGAAAAGTTG -3'

Sequencing Primer
(F):5'- TGAGCAGCCTCGGGCGTGTTGCTAC -3'
(R):5'- ATTTCGCAAGGTGCCACC -3'

Posted On

2018-06-06