Mutagenetix > Incidental Mutation

Incidental Mutation 'R6267:Grb10'

507087

Institutional Source

Beutler Lab

Gene Symbol

Grb10

Ensembl Gene

ENSMUSG00000020176

Gene Name

growth factor receptor bound protein 10

Synonyms

5730571D09Rik, maternally expressed gene 1, Meg1

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.201) question?

Stock #

R6267 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

11930508-12038683 bp(-) (GRCm38)

Type of Mutation

start gained

DNA Base Change (assembly)

T to A at 11970639 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000119344 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093321] [ENSMUST00000109653] [ENSMUST00000109654] [ENSMUST00000143386] [ENSMUST00000143915] [ENSMUST00000150972]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000093321

SMART Domains

Protein: ENSMUSP00000091011
Gene: ENSMUSG00000020176

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

probably benign
Transcript: ENSMUST00000109653

SMART Domains

Protein: ENSMUSP00000105280
Gene: ENSMUSG00000020176

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 benign
Transcript: ENSMUST00000109654

SMART Domains

Protein: ENSMUSP00000105281
Gene: ENSMUSG00000020176

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

probably benign
Transcript: ENSMUST00000143386

SMART Domains

Protein: ENSMUSP00000118350
Gene: ENSMUSG00000020176

Domain	Start	End	E-Value	Type
low complexity region	92	119	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000143915

Predicted Effect

probably benign
Transcript: ENSMUST00000150972

SMART Domains

Protein: ENSMUSP00000119344
Gene: ENSMUSG00000020176

Domain	Start	End	E-Value	Type
low complexity region	92	114	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.4%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700014D04Rik	T	C	13: 59,742,683	D441G	probably benign	Het
4933427D14Rik	T	C	11: 72,195,754	K277R	probably damaging	Het
Aatf	T	C	11: 84,473,100	Y267C	probably benign	Het
Abi3bp	A	G	16: 56,594,497	T341A	probably damaging	Het
Acer2	T	C	4: 86,874,586	F33S	probably damaging	Het
Actr1b	A	G	1: 36,701,163	V299A	possibly damaging	Het
Ampd3	T	A	7: 110,791,180		probably null	Het
Atm	A	C	9: 53,444,000	I2898R	probably damaging	Het
Bpifb6	G	C	2: 153,906,892	K269N	possibly damaging	Het
Cacna1c	T	C	6: 118,598,723	E1927G	possibly damaging	Het
Cacna1c	T	A	6: 118,652,714	T1249S	probably benign	Het
Cars2	TCCCC	TCCC	8: 11,529,599		probably null	Het
Cbll1	A	G	12: 31,487,508	V415A	probably benign	Het
Cd300lf	C	T	11: 115,124,369	V132I	probably benign	Het
Chd2	T	C	7: 73,463,671	E1187G	probably damaging	Het
Cntrl	T	C	2: 35,129,793	L544P	probably damaging	Het
Cryga	A	C	1: 65,103,010	S75A	probably benign	Het
Dcbld1	T	A	10: 52,319,480	Y261*	probably null	Het
Ddx11	G	A	17: 66,150,729		probably null	Het
Dgke	C	T	11: 89,040,749	V560I	probably benign	Het
Dst	A	C	1: 34,228,672	D5065A	probably damaging	Het
Dusp16	C	A	6: 134,720,493		probably null	Het
Eif4enif1	T	A	11: 3,227,793	V395E	probably damaging	Het
Enox1	A	G	14: 77,577,764	T121A	probably damaging	Het
Enpp4	G	T	17: 44,102,480	N54K	probably benign	Het
Erc2	A	T	14: 28,080,155	K764M	probably damaging	Het
Ercc6	G	T	14: 32,526,403	E304*	probably null	Het
Fam117a	T	A	11: 95,364,145	C115S	possibly damaging	Het
Fcrl5	G	A	3: 87,448,324	G448E	probably damaging	Het
Galntl5	T	C	5: 25,186,165	S21P	probably benign	Het
Garnl3	T	C	2: 33,104,880	D39G	probably benign	Het
Gm14295	C	T	2: 176,808,989	Q91*	probably null	Het
Grip1	C	T	10: 120,075,464	Q696*	probably null	Het
Herc2	T	A	7: 56,153,166	C2112*	probably null	Het
Herc2	T	G	7: 56,204,718	L3797R	possibly damaging	Het
Ighm	T	C	12: 113,421,567	I258V	unknown	Het
Jarid2	T	A	13: 44,903,063	Y443N	possibly damaging	Het
Kif13b	A	G	14: 64,738,634	Y466C	probably damaging	Het
Krtap4-6	T	A	11: 99,665,419	R161*	probably null	Het
Lingo4	G	A	3: 94,403,390	G545E	probably benign	Het
Lmo2	T	G	2: 103,970,601	V39G	possibly damaging	Het
Lor	C	A	3: 92,081,812	G56*	probably null	Het
Lrfn1	A	G	7: 28,459,744	R363G	probably benign	Het
Lrp1b	T	C	2: 40,657,525	D446G	probably benign	Het
Ltbp1	G	T	17: 75,005,989	G35V	possibly damaging	Het
Magel2	G	A	7: 62,378,679	V444M	probably damaging	Het
Mkx	A	T	18: 7,000,591		probably null	Het
Ms4a7	A	T	19: 11,333,295	I20N	possibly damaging	Het
Myo5b	A	G	18: 74,616,991	Y173C	probably damaging	Het
Nek1	C	T	8: 61,072,309	Q594*	probably null	Het
Nipbl	T	C	15: 8,300,895	M2349V	possibly damaging	Het
Nmnat2	A	T	1: 153,076,971	H102L	probably damaging	Het
Nup155	T	A	15: 8,153,155	C1201S	probably damaging	Het
Olfr1249	G	A	2: 89,630,631	T89I	probably damaging	Het
Olfr1373	C	A	11: 52,144,596	R311S	probably benign	Het
Olfr686	G	A	7: 105,203,392	T317I	probably damaging	Het
Osbpl1a	A	G	18: 12,819,503		probably null	Het
Pcnt	A	G	10: 76,385,798	V1998A	probably benign	Het
Pitpnc1	T	C	11: 107,226,266	H193R	probably damaging	Het
Pitpnm1	T	C	19: 4,110,522	L781P	probably damaging	Het
Prdm14	A	T	1: 13,118,936	C395S	probably damaging	Het
Prmt8	A	G	6: 127,711,804	I201T	probably damaging	Het
Pter	T	C	2: 12,978,541	V119A	probably damaging	Het
Rab11fip4	T	C	11: 79,690,829		probably null	Het
Rgs9	T	C	11: 109,268,987	N173S	probably benign	Het
Rorb	C	A	19: 18,977,857	V47L	possibly damaging	Het
Rtn4r	A	G	16: 18,151,182	Y158C	probably damaging	Het
Sdr16c5	C	T	4: 4,016,162	G88E	probably damaging	Het
Sfxn1	C	T	13: 54,093,880	T208I	probably benign	Het
Sgo2b	C	T	8: 63,927,793	M668I	probably benign	Het
Slc52a3	G	T	2: 152,007,609		probably null	Het
Smco1	A	T	16: 32,274,014	M168L	probably benign	Het
Spata31d1d	G	A	13: 59,728,464	T419I	possibly damaging	Het
Spink5	T	C	18: 44,014,757	S857P	probably damaging	Het
Stk35	T	A	2: 129,810,888	Y436*	probably null	Het
Tmem225	T	A	9: 40,148,435	I37N	probably damaging	Het
Unkl	T	C	17: 25,231,865	*232R	probably null	Het
Usp16	A	G	16: 87,483,191	N813S	probably benign	Het
Vmn1r128	A	T	7: 21,350,296	*308C	probably null	Het
Vmn2r45	A	G	7: 8,472,208	V607A	probably benign	Het
Vmn2r63	A	T	7: 42,928,635		probably null	Het
Wnk4	A	T	11: 101,273,998	N718Y	probably damaging	Het
Zfp503	G	C	14: 21,985,800	Y349*	probably null	Het
Zfp990	T	A	4: 145,538,103	F557Y	possibly damaging	Het

Other mutations in Grb10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01367:Grb10	APN	11	11945599	missense	probably damaging	1.00
IGL01450:Grb10	APN	11	11970432	missense	probably damaging	1.00
IGL01872:Grb10	APN	11	11970547	missense	probably damaging	0.99
IGL02164:Grb10	APN	11	11943962	missense	probably damaging	1.00
IGL02508:Grb10	APN	11	11946767	missense	probably damaging	1.00
IGL02626:Grb10	APN	11	11945503	missense	probably benign	0.00
IGL03275:Grb10	APN	11	11933591	missense	possibly damaging	0.46
virginia	UTSW	11	11933551	missense	probably damaging	1.00
R0042:Grb10	UTSW	11	11936798	missense	probably damaging	1.00
R0042:Grb10	UTSW	11	11936798	missense	probably damaging	1.00
R0089:Grb10	UTSW	11	11934192	splice site	probably benign
R0196:Grb10	UTSW	11	11945583	missense	probably damaging	1.00
R0419:Grb10	UTSW	11	11934207	missense	possibly damaging	0.87
R0645:Grb10	UTSW	11	11936755	missense	probably damaging	0.98
R1473:Grb10	UTSW	11	11934249	missense	probably damaging	1.00
R1848:Grb10	UTSW	11	11946029	missense	possibly damaging	0.78
R2025:Grb10	UTSW	11	11970576	nonsense	probably null
R4455:Grb10	UTSW	11	11967665	missense	possibly damaging	0.93
R4857:Grb10	UTSW	11	11951469	unclassified	probably benign
R5289:Grb10	UTSW	11	11944924	splice site	silent
R5522:Grb10	UTSW	11	11936746	missense	probably benign	0.05
R5696:Grb10	UTSW	11	11933566	missense	probably benign	0.23
R6119:Grb10	UTSW	11	11933551	missense	probably damaging	1.00
R6163:Grb10	UTSW	11	11943932	nonsense	probably null
R6328:Grb10	UTSW	11	11937905	missense	probably damaging	1.00
R6741:Grb10	UTSW	11	11936717	critical splice donor site	probably null
R7610:Grb10	UTSW	11	11943955	missense	probably benign	0.33
R7641:Grb10	UTSW	11	11933492	missense	possibly damaging	0.84
R8209:Grb10	UTSW	11	11951533	missense	probably damaging	0.99
R8226:Grb10	UTSW	11	11951533	missense	probably damaging	0.99
R8916:Grb10	UTSW	11	11951599	missense	probably benign	0.28
R9546:Grb10	UTSW	11	11943919	missense	probably benign	0.00
R9547:Grb10	UTSW	11	11943919	missense	probably benign	0.00
R9559:Grb10	UTSW	11	11945535	missense	probably damaging	1.00
Z1176:Grb10	UTSW	11	11944845	missense	possibly damaging	0.59

Predicted Primers

Posted On

2018-03-15