Mutagenetix > Incidental Mutation

Incidental Mutation 'R0089:Grb10'

20078

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

038376-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.313) question?

Stock #

R0089 (G1)

Quality Score

165

Status

Validated

Chromosome

Chromosomal Location

11880499-11987428 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 11884192 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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

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

noncoding transcript
Transcript: ENSMUST00000124587

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.6%
20x: 90.5%

Validation Efficiency

98% (82/84)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm2	T	A	4: 144,282,303 (GRCm39)	H163L	probably benign	Het
Abca13	T	A	11: 9,242,886 (GRCm39)	V1583E	possibly damaging	Het
Ablim1	G	T	19: 57,031,463 (GRCm39)	S654Y	probably damaging	Het
Acbd4	T	C	11: 102,994,819 (GRCm39)	F59S	probably damaging	Het
Acot1	T	C	12: 84,063,708 (GRCm39)	I272T	probably damaging	Het
Ankhd1	A	G	18: 36,773,409 (GRCm39)	D1402G	probably damaging	Het
Birc6	T	A	17: 74,945,371 (GRCm39)	F2800I	possibly damaging	Het
Brd1	T	C	15: 88,585,401 (GRCm39)	E811G	probably benign	Het
Catspere2	C	T	1: 177,874,555 (GRCm39)	P141S	unknown	Het
Ccdc106	A	G	7: 5,059,220 (GRCm39)		probably null	Het
Ccdc81	G	T	7: 89,542,324 (GRCm39)	A184E	possibly damaging	Het
Cenpt	T	C	8: 106,573,000 (GRCm39)	T364A	probably benign	Het
Crybg2	T	C	4: 133,808,505 (GRCm39)	S1060P	probably damaging	Het
Dnttip2	A	G	3: 122,069,111 (GRCm39)	T109A	possibly damaging	Het
Dpy19l2	A	G	9: 24,607,089 (GRCm39)	L124P	probably benign	Het
Eif1ad19	A	T	12: 87,740,283 (GRCm39)	I92N	probably damaging	Het
Fat3	T	C	9: 15,849,501 (GRCm39)	D3967G	probably benign	Het
Fbxo21	T	A	5: 118,146,208 (GRCm39)	F610L	probably benign	Het
Fmo9	T	C	1: 166,494,878 (GRCm39)	D341G	probably benign	Het
Frem3	A	T	8: 81,342,507 (GRCm39)	H1600L	possibly damaging	Het
Fry	A	T	5: 150,263,892 (GRCm39)	K133N	possibly damaging	Het
Gm10647	A	G	9: 66,705,612 (GRCm39)		probably benign	Het
Gmps	T	C	3: 63,906,119 (GRCm39)	F472S	probably benign	Het
Grm6	G	A	11: 50,750,792 (GRCm39)	G652S	probably damaging	Het
Heca	G	T	10: 17,783,848 (GRCm39)	D468E	probably damaging	Het
Heg1	C	T	16: 33,583,985 (GRCm39)	S1033L	probably damaging	Het
Hepacam2	A	G	6: 3,487,094 (GRCm39)	S12P	probably damaging	Het
Impdh1	G	T	6: 29,206,325 (GRCm39)	H195N	probably benign	Het
Ipo7	T	C	7: 109,649,972 (GRCm39)		probably benign	Het
Itpr2	C	T	6: 146,251,520 (GRCm39)		probably null	Het
Kcnh6	G	A	11: 105,899,848 (GRCm39)	C39Y	probably benign	Het
Kif26a	T	C	12: 112,143,837 (GRCm39)	S1364P	probably damaging	Het
Lins1	T	A	7: 66,361,796 (GRCm39)		probably benign	Het
Lrpap1	C	T	5: 35,252,232 (GRCm39)	V328M	possibly damaging	Het
Lyn	T	G	4: 3,748,768 (GRCm39)	L249V	probably benign	Het
Mpp7	A	G	18: 7,439,555 (GRCm39)		probably benign	Het
Mtmr9	A	G	14: 63,765,696 (GRCm39)	F400L	possibly damaging	Het
Mto1	G	A	9: 78,381,154 (GRCm39)	S666N	probably benign	Het
Nanos3	C	T	8: 84,902,763 (GRCm39)	R133Q	probably damaging	Het
Nsg1	T	C	5: 38,312,974 (GRCm39)	E75G	probably benign	Het
Nsun4	A	G	4: 115,892,970 (GRCm39)	M283T	probably benign	Het
Obscn	A	G	11: 58,890,888 (GRCm39)	S7215P	unknown	Het
Or11j4	T	C	14: 50,630,321 (GRCm39)	I36T	probably benign	Het
Or13a20	T	C	7: 140,232,224 (GRCm39)	S111P	probably damaging	Het
Or1j12	G	A	2: 36,343,107 (GRCm39)	R170K	probably benign	Het
Or2y13	G	A	11: 49,415,033 (GRCm39)	S161N	possibly damaging	Het
Or52e4	T	A	7: 104,706,297 (GRCm39)	Y281*	probably null	Het
Or5al1	A	C	2: 85,989,918 (GRCm39)	S265R	possibly damaging	Het
Or9m1b	T	C	2: 87,836,331 (GRCm39)	I264V	probably damaging	Het
Per1	T	C	11: 68,994,869 (GRCm39)	F563S	probably benign	Het
Pik3c3	T	A	18: 30,436,131 (GRCm39)		probably benign	Het
Pitrm1	A	T	13: 6,605,675 (GRCm39)	K207N	probably damaging	Het
Prdm10	C	T	9: 31,227,526 (GRCm39)	R44C	probably damaging	Het
Rab40c	A	T	17: 26,104,122 (GRCm39)	I90N	probably damaging	Het
Rbl1	A	G	2: 157,041,334 (GRCm39)		probably null	Het
Rnf17	G	A	14: 56,751,563 (GRCm39)	G1467E	probably damaging	Het
Rpgrip1	A	G	14: 52,386,841 (GRCm39)		probably benign	Het
Sall1	A	T	8: 89,756,896 (GRCm39)	N1069K	probably benign	Het
Scap	T	C	9: 110,201,290 (GRCm39)	I93T	possibly damaging	Het
Sez6	T	C	11: 77,865,170 (GRCm39)		probably benign	Het
Slc22a30	A	T	19: 8,347,561 (GRCm39)	S280T	probably benign	Het
Slc26a5	A	C	5: 22,016,342 (GRCm39)		probably null	Het
St18	T	C	1: 6,919,172 (GRCm39)	V901A	probably benign	Het
Syne2	T	C	12: 76,010,650 (GRCm39)	L2519P	probably damaging	Het
Syne4	G	A	7: 30,018,344 (GRCm39)	G362E	probably damaging	Het
Tmem51	T	C	4: 141,759,236 (GRCm39)	T171A	probably benign	Het
Tns4	A	T	11: 98,966,024 (GRCm39)	I453N	probably damaging	Het
Trank1	A	T	9: 111,221,978 (GRCm39)	H2905L	probably benign	Het
Trim13	C	T	14: 61,842,166 (GRCm39)	T61I	possibly damaging	Het
Trim75	T	C	8: 65,435,580 (GRCm39)	Q290R	possibly damaging	Het
Ttn	C	A	2: 76,559,544 (GRCm39)	R29619L	probably damaging	Het
Ugt2b38	T	A	5: 87,568,417 (GRCm39)	M293L	probably benign	Het
Vmn1r22	T	A	6: 57,877,513 (GRCm39)	N155Y	probably benign	Het
Vmn2r18	T	C	5: 151,508,269 (GRCm39)	Y285C	probably benign	Het
Vmn2r84	C	T	10: 130,222,588 (GRCm39)		probably benign	Het
Vwde	A	C	6: 13,220,004 (GRCm39)	L49R	probably damaging	Het
Yipf2	T	A	9: 21,503,262 (GRCm39)	E68D	possibly damaging	Het
Zfand5	C	A	19: 21,257,122 (GRCm39)		probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- CTCAGCAACATTCCCTCTTGGAGTC -3'
(R):5'- GGTACTAGCACTCATGTGCCAGAAC -3'

Sequencing Primer
(F):5'- AACATTCCCTCTTGGAGTCTCTTG -3'
(R):5'- GTACACATGCATACATGGATGCTC -3'

Posted On

2013-04-11