Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02164:Grb10'

282583

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Grb10

Ensembl Gene

ENSMUSG00000020176

Gene Name

growth factor receptor bound protein 10

Synonyms

5730571D09Rik, Meg1, maternally expressed gene 1

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.270) question?

Stock #

IGL02164

Quality Score

Status

Chromosome

Chromosomal Location

11880499-11987428 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 11893962 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 320 (E320K)

Ref Sequence

ENSEMBL: ENSMUSP00000105281 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093321] [ENSMUST00000109653] [ENSMUST00000109654]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000093321
AA Change: E375K

PolyPhen 2 Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000091011
Gene: ENSMUSG00000020176
AA Change: E375K

Domain	Start	End	E-Value	Type
low complexity region	92	119	N/A	INTRINSIC
RA	169	253	2.56e-20	SMART
PH	294	404	7.13e-10	SMART
Pfam:BPS	427	473	6.4e-31	PFAM
SH2	493	582	7.78e-30	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109653
AA Change: E329K

PolyPhen 2 Score 0.547 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000105280
Gene: ENSMUSG00000020176
AA Change: E329K

Domain	Start	End	E-Value	Type
low complexity region	92	119	N/A	INTRINSIC
RA	169	253	2.56e-20	SMART
Blast:PH	285	358	1e-44	BLAST
Pfam:BPS	381	428	3.5e-33	PFAM
SH2	447	536	7.78e-30	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000109654
AA Change: E320K

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

SMART Domains

Protein: ENSMUSP00000105281
Gene: ENSMUSG00000020176
AA Change: E320K

Domain	Start	End	E-Value	Type
RA	114	198	5.45e-24	SMART
PH	239	349	7.13e-10	SMART
Pfam:BPS	372	419	5.4e-33	PFAM
SH2	438	527	7.78e-30	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148254

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene belongs to a small family of adapter proteins that are known to interact with a number of receptor tyrosine kinases and signaling molecules. This gene encodes a growth factor receptor-binding protein that interacts with insulin receptors and insulin-like growth-factor receptors. Overexpression of some isoforms of the encoded protein inhibits tyrosine kinase activity and results in growth suppression. This gene is imprinted in a highly isoform- and tissue-specific manner, with expression observed from the paternal allele in the brain, and from the maternal allele in the placental trophoblasts. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2010]
PHENOTYPE: Maternal transmission of a mutant allele results in both fetal and placental overgrowth. Disproportionate overgrowth of the liver is observed. Paternal transmission of an allele lacking the differentially methylated region results in growth retardation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730480H06Rik	T	A	5: 48,537,524 (GRCm39)	V187E	probably benign	Het
Abcc12	T	A	8: 87,254,033 (GRCm39)	D917V	probably damaging	Het
Abhd15	A	T	11: 77,406,840 (GRCm39)	E272D	probably benign	Het
Adat3	T	A	10: 80,442,461 (GRCm39)	S100T	probably benign	Het
Adgrg6	T	C	10: 14,399,299 (GRCm39)		probably benign	Het
Alpl	C	T	4: 137,481,290 (GRCm39)	V121M	probably damaging	Het
Ano1	A	T	7: 144,190,918 (GRCm39)	Y388N	possibly damaging	Het
Arrdc4	C	T	7: 68,389,285 (GRCm39)		probably benign	Het
Asxl2	A	G	12: 3,552,079 (GRCm39)	M1274V	probably benign	Het
Bmt2	G	T	6: 13,628,878 (GRCm39)	N268K	possibly damaging	Het
Bpifb2	C	A	2: 153,725,482 (GRCm39)	L176M	probably damaging	Het
Brd8	C	T	18: 34,735,780 (GRCm39)	S899N	probably damaging	Het
Cd14	T	C	18: 36,858,838 (GRCm39)	R206G	possibly damaging	Het
Cfap65	G	T	1: 74,967,304 (GRCm39)	T215K	possibly damaging	Het
Chd9	T	C	8: 91,659,849 (GRCm39)	S270P	possibly damaging	Het
Cidea	C	T	18: 67,499,581 (GRCm39)	S156L	probably damaging	Het
Col5a3	A	G	9: 20,703,939 (GRCm39)		probably null	Het
Cspg5	T	C	9: 110,080,104 (GRCm39)	V424A	probably damaging	Het
Ctc1	A	G	11: 68,916,922 (GRCm39)	H272R	probably damaging	Het
D5Ertd579e	A	T	5: 36,772,303 (GRCm39)	S697R	probably damaging	Het
Dennd3	T	C	15: 73,416,297 (GRCm39)	S516P	probably benign	Het
Dipk2b	T	A	X: 18,285,192 (GRCm39)	R421*	probably null	Het
Dlgap4	G	A	2: 156,553,059 (GRCm39)	R509H	probably damaging	Het
Dus3l	T	C	17: 57,074,943 (GRCm39)		probably benign	Het
Dync1h1	G	T	12: 110,628,993 (GRCm39)	W4183C	probably damaging	Het
Eif2s3x	A	T	X: 93,248,678 (GRCm39)	M152K	possibly damaging	Het
Epb41l1	C	T	2: 156,336,869 (GRCm39)		probably benign	Het
Ephx2	A	G	14: 66,341,169 (GRCm39)		probably benign	Het
Fabp12	T	A	3: 10,311,075 (GRCm39)	Y129F	probably damaging	Het
Fat3	A	G	9: 15,942,720 (GRCm39)		probably benign	Het
Fat4	T	C	3: 39,050,354 (GRCm39)		probably null	Het
Gnb1	T	A	4: 155,641,631 (GRCm39)		probably null	Het
Gpr107	C	A	2: 31,068,298 (GRCm39)	Y253*	probably null	Het
Gucy2g	G	T	19: 55,226,455 (GRCm39)	H154N	probably benign	Het
H2bl1	T	C	13: 99,120,715 (GRCm39)	K104E	probably damaging	Het
Hemk1	T	A	9: 107,208,735 (GRCm39)	H154L	probably benign	Het
Hk2	A	T	6: 82,720,920 (GRCm39)		probably null	Het
Htr5a	A	G	5: 28,047,463 (GRCm39)	N6S	probably damaging	Het
Htra3	T	C	5: 35,810,410 (GRCm39)	D424G	probably benign	Het
Ift52	A	G	2: 162,867,384 (GRCm39)		probably null	Het
Igdcc4	A	G	9: 65,032,064 (GRCm39)		probably benign	Het
Itpr1	A	G	6: 108,366,444 (GRCm39)	K124E	probably benign	Het
Kcnc2	T	A	10: 112,291,590 (GRCm39)	N259K	possibly damaging	Het
Kics2	A	G	10: 121,586,675 (GRCm39)	Y194C	probably damaging	Het
Lmod2	A	T	6: 24,603,909 (GRCm39)	I295F	possibly damaging	Het
Lrp1	T	C	10: 127,399,536 (GRCm39)	E2324G	probably benign	Het
Lss	T	C	10: 76,372,094 (GRCm39)	S150P	probably damaging	Het
Macf1	T	C	4: 123,374,065 (GRCm39)	N1515S	probably benign	Het
Mapk11	T	C	15: 89,029,651 (GRCm39)		probably null	Het
Mc3r	T	A	2: 172,091,314 (GRCm39)	F179I	probably damaging	Het
Mtmr9	T	A	14: 63,767,737 (GRCm39)	N291Y	probably damaging	Het
Myo1h	T	C	5: 114,472,157 (GRCm39)	F396L	probably damaging	Het
Nek2	A	G	1: 191,559,416 (GRCm39)	K307R	probably benign	Het
Or12d2	C	A	17: 37,624,578 (GRCm39)	M232I	probably benign	Het
Osmr	G	A	15: 6,871,529 (GRCm39)	T296I	probably damaging	Het
Pcdhb11	T	G	18: 37,556,412 (GRCm39)	S581A	probably benign	Het
Pfkp	C	T	13: 6,647,951 (GRCm39)	V542M	probably damaging	Het
Pmpca	C	T	2: 26,285,581 (GRCm39)	S519L	probably benign	Het
Ptgds	A	T	2: 25,359,124 (GRCm39)	Y44N	probably damaging	Het
Raly	T	A	2: 154,701,849 (GRCm39)	Y116*	probably null	Het
Rock2	A	G	12: 17,015,530 (GRCm39)	D809G	probably damaging	Het
Sgsm2	T	G	11: 74,756,242 (GRCm39)	N369T	possibly damaging	Het
Slc6a15	A	G	10: 103,254,083 (GRCm39)	D673G	probably benign	Het
Spire2	A	T	8: 124,059,703 (GRCm39)	D67V	probably damaging	Het
St7l	T	C	3: 104,829,597 (GRCm39)		probably null	Het
Stau2	A	G	1: 16,416,052 (GRCm39)	L469P	probably damaging	Het
Tefm	A	G	11: 80,030,915 (GRCm39)	L107S	probably damaging	Het
Ticam1	A	T	17: 56,577,019 (GRCm39)	V692D	unknown	Het
Tipin	T	A	9: 64,201,631 (GRCm39)	D143E	probably damaging	Het
Tmem132c	C	A	5: 127,613,441 (GRCm39)	T448K	probably damaging	Het
Trav8-1	A	T	14: 53,707,213 (GRCm39)	M1L	unknown	Het
Ttn	C	A	2: 76,569,141 (GRCm39)	V27251F	probably damaging	Het
Uvrag	A	T	7: 98,653,896 (GRCm39)	C31*	probably null	Het
Zap70	T	C	1: 36,810,267 (GRCm39)	Y126H	probably damaging	Het
Zfp644	A	G	5: 106,785,965 (GRCm39)	V194A	probably benign	Het
Zfp663	C	T	2: 165,200,968 (GRCm39)	W22*	probably null	Het

Other mutations in Grb10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01367:Grb10	APN	11	11,895,599 (GRCm39)	missense	probably damaging	1.00
IGL01450:Grb10	APN	11	11,920,432 (GRCm39)	missense	probably damaging	1.00
IGL01872:Grb10	APN	11	11,920,547 (GRCm39)	missense	probably damaging	0.99
IGL02508:Grb10	APN	11	11,896,767 (GRCm39)	missense	probably damaging	1.00
IGL02626:Grb10	APN	11	11,895,503 (GRCm39)	missense	probably benign	0.00
IGL03275:Grb10	APN	11	11,883,591 (GRCm39)	missense	possibly damaging	0.46
virginia	UTSW	11	11,883,551 (GRCm39)	missense	probably damaging	1.00
R0042:Grb10	UTSW	11	11,886,798 (GRCm39)	missense	probably damaging	1.00
R0042:Grb10	UTSW	11	11,886,798 (GRCm39)	missense	probably damaging	1.00
R0089:Grb10	UTSW	11	11,884,192 (GRCm39)	splice site	probably benign
R0196:Grb10	UTSW	11	11,895,583 (GRCm39)	missense	probably damaging	1.00
R0419:Grb10	UTSW	11	11,884,207 (GRCm39)	missense	possibly damaging	0.87
R0645:Grb10	UTSW	11	11,886,755 (GRCm39)	missense	probably damaging	0.98
R1473:Grb10	UTSW	11	11,884,249 (GRCm39)	missense	probably damaging	1.00
R1848:Grb10	UTSW	11	11,896,029 (GRCm39)	missense	possibly damaging	0.78
R2025:Grb10	UTSW	11	11,920,576 (GRCm39)	nonsense	probably null
R4455:Grb10	UTSW	11	11,917,665 (GRCm39)	missense	possibly damaging	0.93
R4857:Grb10	UTSW	11	11,901,469 (GRCm39)	unclassified	probably benign
R5289:Grb10	UTSW	11	11,894,924 (GRCm39)	splice site	silent
R5522:Grb10	UTSW	11	11,886,746 (GRCm39)	missense	probably benign	0.05
R5696:Grb10	UTSW	11	11,883,566 (GRCm39)	missense	probably benign	0.23
R6119:Grb10	UTSW	11	11,883,551 (GRCm39)	missense	probably damaging	1.00
R6163:Grb10	UTSW	11	11,893,932 (GRCm39)	nonsense	probably null
R6267:Grb10	UTSW	11	11,920,639 (GRCm39)	start gained	probably benign
R6328:Grb10	UTSW	11	11,887,905 (GRCm39)	missense	probably damaging	1.00
R6741:Grb10	UTSW	11	11,886,717 (GRCm39)	critical splice donor site	probably null
R7610:Grb10	UTSW	11	11,893,955 (GRCm39)	missense	probably benign	0.33
R7641:Grb10	UTSW	11	11,883,492 (GRCm39)	missense	possibly damaging	0.84
R8209:Grb10	UTSW	11	11,901,533 (GRCm39)	missense	probably damaging	0.99
R8226:Grb10	UTSW	11	11,901,533 (GRCm39)	missense	probably damaging	0.99
R8916:Grb10	UTSW	11	11,901,599 (GRCm39)	missense	probably benign	0.28
R9546:Grb10	UTSW	11	11,893,919 (GRCm39)	missense	probably benign	0.00
R9547:Grb10	UTSW	11	11,893,919 (GRCm39)	missense	probably benign	0.00
R9559:Grb10	UTSW	11	11,895,535 (GRCm39)	missense	probably damaging	1.00
Z1176:Grb10	UTSW	11	11,894,845 (GRCm39)	missense	possibly damaging	0.59

Posted On

2015-04-16