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, Meg1, maternally expressed gene 1

MMRRC Submission

044405-MU

Accession Numbers

Essential gene?

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

Stock #

R6267 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

11880499-11987428 bp(-) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

T to A at 11920639 bp (GRCm39)

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
4933427D14Rik	T	C	11: 72,086,580 (GRCm39)	K277R	probably damaging	Het
Aatf	T	C	11: 84,363,926 (GRCm39)	Y267C	probably benign	Het
Abi3bp	A	G	16: 56,414,860 (GRCm39)	T341A	probably damaging	Het
Acer2	T	C	4: 86,792,823 (GRCm39)	F33S	probably damaging	Het
Actr1b	A	G	1: 36,740,244 (GRCm39)	V299A	possibly damaging	Het
Ampd3	T	A	7: 110,390,387 (GRCm39)		probably null	Het
Atm	A	C	9: 53,355,300 (GRCm39)	I2898R	probably damaging	Het
Bpifb6	G	C	2: 153,748,812 (GRCm39)	K269N	possibly damaging	Het
Cacna1c	T	C	6: 118,575,684 (GRCm39)	E1927G	possibly damaging	Het
Cacna1c	T	A	6: 118,629,675 (GRCm39)	T1249S	probably benign	Het
Cars2	TCCCC	TCCC	8: 11,579,599 (GRCm39)		probably null	Het
Cbll1	A	G	12: 31,537,507 (GRCm39)	V415A	probably benign	Het
Cd300lf	C	T	11: 115,015,195 (GRCm39)	V132I	probably benign	Het
Chd2	T	C	7: 73,113,419 (GRCm39)	E1187G	probably damaging	Het
Cntrl	T	C	2: 35,019,805 (GRCm39)	L544P	probably damaging	Het
Cryga	A	C	1: 65,142,169 (GRCm39)	S75A	probably benign	Het
Dcbld1	T	A	10: 52,195,576 (GRCm39)	Y261*	probably null	Het
Ddx11	G	A	17: 66,457,724 (GRCm39)		probably null	Het
Dgke	C	T	11: 88,931,575 (GRCm39)	V560I	probably benign	Het
Dst	A	C	1: 34,267,753 (GRCm39)	D5065A	probably damaging	Het
Dusp16	C	A	6: 134,697,456 (GRCm39)		probably null	Het
Eif4enif1	T	A	11: 3,177,793 (GRCm39)	V395E	probably damaging	Het
Enox1	A	G	14: 77,815,204 (GRCm39)	T121A	probably damaging	Het
Enpp4	G	T	17: 44,413,371 (GRCm39)	N54K	probably benign	Het
Erc2	A	T	14: 27,802,112 (GRCm39)	K764M	probably damaging	Het
Ercc6	G	T	14: 32,248,360 (GRCm39)	E304*	probably null	Het
Fam117a	T	A	11: 95,254,971 (GRCm39)	C115S	possibly damaging	Het
Fcrl5	G	A	3: 87,355,631 (GRCm39)	G448E	probably damaging	Het
Galntl5	T	C	5: 25,391,163 (GRCm39)	S21P	probably benign	Het
Garnl3	T	C	2: 32,994,892 (GRCm39)	D39G	probably benign	Het
Gm14295	C	T	2: 176,500,782 (GRCm39)	Q91*	probably null	Het
Grip1	C	T	10: 119,911,369 (GRCm39)	Q696*	probably null	Het
Herc2	T	A	7: 55,802,914 (GRCm39)	C2112*	probably null	Het
Herc2	T	G	7: 55,854,466 (GRCm39)	L3797R	possibly damaging	Het
Ighm	T	C	12: 113,385,187 (GRCm39)	I258V	unknown	Het
Jarid2	T	A	13: 45,056,539 (GRCm39)	Y443N	possibly damaging	Het
Kif13b	A	G	14: 64,976,083 (GRCm39)	Y466C	probably damaging	Het
Krtap4-6	T	A	11: 99,556,245 (GRCm39)	R161*	probably null	Het
Lingo4	G	A	3: 94,310,697 (GRCm39)	G545E	probably benign	Het
Lmo2	T	G	2: 103,800,946 (GRCm39)	V39G	possibly damaging	Het
Loricrin	C	A	3: 91,989,119 (GRCm39)	G56*	probably null	Het
Lrfn1	A	G	7: 28,159,169 (GRCm39)	R363G	probably benign	Het
Lrp1b	T	C	2: 40,547,537 (GRCm39)	D446G	probably benign	Het
Ltbp1	G	T	17: 75,312,984 (GRCm39)	G35V	possibly damaging	Het
Magel2	G	A	7: 62,028,427 (GRCm39)	V444M	probably damaging	Het
Mkx	A	T	18: 7,000,591 (GRCm39)		probably null	Het
Ms4a7	A	T	19: 11,310,659 (GRCm39)	I20N	possibly damaging	Het
Myo5b	A	G	18: 74,750,062 (GRCm39)	Y173C	probably damaging	Het
Nek1	C	T	8: 61,525,343 (GRCm39)	Q594*	probably null	Het
Nipbl	T	C	15: 8,330,379 (GRCm39)	M2349V	possibly damaging	Het
Nmnat2	A	T	1: 152,952,717 (GRCm39)	H102L	probably damaging	Het
Nup155	T	A	15: 8,182,639 (GRCm39)	C1201S	probably damaging	Het
Or2y8	C	A	11: 52,035,423 (GRCm39)	R311S	probably benign	Het
Or4a76	G	A	2: 89,460,975 (GRCm39)	T89I	probably damaging	Het
Or52x1	G	A	7: 104,852,599 (GRCm39)	T317I	probably damaging	Het
Osbpl1a	A	G	18: 12,952,560 (GRCm39)		probably null	Het
Pcnt	A	G	10: 76,221,632 (GRCm39)	V1998A	probably benign	Het
Pitpnc1	T	C	11: 107,117,092 (GRCm39)	H193R	probably damaging	Het
Pitpnm1	T	C	19: 4,160,522 (GRCm39)	L781P	probably damaging	Het
Prdm14	A	T	1: 13,189,160 (GRCm39)	C395S	probably damaging	Het
Prmt8	A	G	6: 127,688,767 (GRCm39)	I201T	probably damaging	Het
Pter	T	C	2: 12,983,352 (GRCm39)	V119A	probably damaging	Het
Rab11fip4	T	C	11: 79,581,655 (GRCm39)		probably null	Het
Rgs9	T	C	11: 109,159,813 (GRCm39)	N173S	probably benign	Het
Rorb	C	A	19: 18,955,221 (GRCm39)	V47L	possibly damaging	Het
Rtn4r	A	G	16: 17,969,046 (GRCm39)	Y158C	probably damaging	Het
Sdr16c5	C	T	4: 4,016,162 (GRCm39)	G88E	probably damaging	Het
Sfxn1	C	T	13: 54,247,899 (GRCm39)	T208I	probably benign	Het
Sgo2b	C	T	8: 64,380,827 (GRCm39)	M668I	probably benign	Het
Slc52a3	G	T	2: 151,849,529 (GRCm39)		probably null	Het
Smco1	A	T	16: 32,092,832 (GRCm39)	M168L	probably benign	Het
Spata31d1d	G	A	13: 59,876,278 (GRCm39)	T419I	possibly damaging	Het
Spata31d1e	T	C	13: 59,890,497 (GRCm39)	D441G	probably benign	Het
Spink5	T	C	18: 44,147,824 (GRCm39)	S857P	probably damaging	Het
Stk35	T	A	2: 129,652,808 (GRCm39)	Y436*	probably null	Het
Tmem225	T	A	9: 40,059,731 (GRCm39)	I37N	probably damaging	Het
Unkl	T	C	17: 25,450,839 (GRCm39)	*232R	probably null	Het
Usp16	A	G	16: 87,280,079 (GRCm39)	N813S	probably benign	Het
Vmn1r128	A	T	7: 21,084,221 (GRCm39)	*308C	probably null	Het
Vmn2r45	A	G	7: 8,475,207 (GRCm39)	V607A	probably benign	Het
Vmn2r63	A	T	7: 42,578,059 (GRCm39)		probably null	Het
Wnk4	A	T	11: 101,164,824 (GRCm39)	N718Y	probably damaging	Het
Zfp503	G	C	14: 22,035,868 (GRCm39)	Y349*	probably null	Het
Zfp990	T	A	4: 145,264,673 (GRCm39)	F557Y	possibly damaging	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
IGL02164:Grb10	APN	11	11,893,962 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

Posted On

2018-03-15