Mutagenetix > Incidental Mutation

Incidental Mutation 'R0196:Grb10'

60760

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

038455-MU

Accession Numbers

Essential gene?

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

Stock #

R0196 (G1)

Quality Score

126

Status

Not validated

Chromosome

Chromosomal Location

11880499-11987428 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 11895583 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 247 (V247G)

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 damaging
Transcript: ENSMUST00000093321
AA Change: V302G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000091011
Gene: ENSMUSG00000020176
AA Change: V302G

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 damaging
Transcript: ENSMUST00000109654
AA Change: V247G

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

SMART Domains

Protein: ENSMUSP00000105281
Gene: ENSMUSG00000020176
AA Change: V247G

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: ENSMUST00000142877

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148254

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 93.8%
20x: 81.8%

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
4933409G03Rik	A	G	2: 68,446,591 (GRCm39)		probably benign	Het
Aass	G	A	6: 23,109,519 (GRCm39)	P317L	probably damaging	Het
Abca12	T	A	1: 71,298,972 (GRCm39)	N2313I	possibly damaging	Het
Adamts12	T	C	15: 11,071,594 (GRCm39)	I46T	probably benign	Het
Adipoq	T	G	16: 22,965,393 (GRCm39)		probably null	Het
Amy1	A	T	3: 113,363,070 (GRCm39)	D92E	probably benign	Het
Asb15	G	A	6: 24,564,392 (GRCm39)	R282Q	probably damaging	Het
Bag6	G	C	17: 35,363,239 (GRCm39)	G693A	probably damaging	Het
Birc6	T	C	17: 74,887,282 (GRCm39)	I870T	possibly damaging	Het
Cand2	A	G	6: 115,766,463 (GRCm39)	K356R	probably damaging	Het
Cbfa2t3	T	C	8: 123,360,076 (GRCm39)	Q525R	possibly damaging	Het
Cd4	T	C	6: 124,844,769 (GRCm39)	R339G	probably damaging	Het
Cdh8	A	G	8: 99,917,066 (GRCm39)	S350P	probably damaging	Het
Cep295	A	T	9: 15,249,509 (GRCm39)	S469T	probably damaging	Het
Ckap2l	A	T	2: 129,127,342 (GRCm39)	S279T	probably benign	Het
Clnk	T	A	5: 38,927,282 (GRCm39)	N66Y	probably damaging	Het
Col27a1	A	T	4: 63,142,503 (GRCm39)	T64S	probably benign	Het
Crtc1	T	C	8: 70,838,871 (GRCm39)	D599G	probably damaging	Het
Cyp2c23	A	C	19: 44,000,795 (GRCm39)	I363S	probably damaging	Het
Dnah10	A	T	5: 124,911,139 (GRCm39)	I4519F	possibly damaging	Het
Dner	T	A	1: 84,348,553 (GRCm39)	I716F	probably damaging	Het
Dsel	T	G	1: 111,789,333 (GRCm39)	T401P	possibly damaging	Het
Egfr	A	G	11: 16,861,746 (GRCm39)	D1175G	probably benign	Het
Ephb3	A	T	16: 21,036,804 (GRCm39)	N343I	probably damaging	Het
Fbxw10	T	A	11: 62,768,070 (GRCm39)	F974I	probably benign	Het
Gfi1b	T	C	2: 28,503,786 (GRCm39)	Y138C	probably damaging	Het
Gm11168	T	A	9: 3,005,175 (GRCm39)	L6H	probably benign	Het
Gstp2	A	T	19: 4,090,514 (GRCm39)		probably null	Het
Hars2	C	T	18: 36,922,257 (GRCm39)	Q291*	probably null	Het
Hyal4	G	T	6: 24,756,220 (GRCm39)	W146L	probably damaging	Het
Il22ra1	C	T	4: 135,461,556 (GRCm39)	T107I	possibly damaging	Het
Itga8	A	G	2: 12,209,540 (GRCm39)		probably null	Het
Klhl25	T	C	7: 75,515,450 (GRCm39)	S119P	probably damaging	Het
Krt81	C	A	15: 101,361,508 (GRCm39)	R24L	possibly damaging	Het
Lrrc8c	T	C	5: 105,754,636 (GRCm39)	V137A	probably benign	Het
Macrod2	A	T	2: 142,018,545 (GRCm39)	E226V	probably damaging	Het
Mcemp1	A	T	8: 3,718,201 (GRCm39)	Q165L	probably benign	Het
Mcpt9	T	A	14: 56,265,453 (GRCm39)	K82M	probably benign	Het
Mpzl3	A	G	9: 44,973,458 (GRCm39)	T66A	probably damaging	Het
Msh6	G	A	17: 88,287,788 (GRCm39)	V143I	possibly damaging	Het
Mug1	G	A	6: 121,815,684 (GRCm39)		probably null	Het
Ncr1	G	T	7: 4,343,972 (GRCm39)	C153F	probably damaging	Het
Nf1	T	A	11: 79,359,595 (GRCm39)	M1411K	possibly damaging	Het
Nf1	T	A	11: 79,469,098 (GRCm39)	V786D	probably damaging	Het
Nisch	T	C	14: 30,925,351 (GRCm39)		probably benign	Het
Nwd2	T	A	5: 63,963,694 (GRCm39)	Y1093N	probably benign	Het
Oas3	G	A	5: 120,894,210 (GRCm39)	R39C	probably damaging	Het
Or1e32	A	T	11: 73,705,731 (GRCm39)	M59K	probably damaging	Het
Or7a36	C	T	10: 78,820,023 (GRCm39)	T133I	possibly damaging	Het
Oxa1l	T	C	14: 54,600,944 (GRCm39)	I139T	probably damaging	Het
P3h3	T	A	6: 124,822,235 (GRCm39)	N583Y	probably damaging	Het
Pcdh18	A	T	3: 49,711,147 (GRCm39)		probably null	Het
Pcnp	C	T	16: 55,844,896 (GRCm39)		probably benign	Het
Pdzd8	G	T	19: 59,289,563 (GRCm39)	D612E	probably benign	Het
Pi4kb	T	C	3: 94,906,261 (GRCm39)	S8P	probably damaging	Het
Pikfyve	T	G	1: 65,295,231 (GRCm39)	V1454G	possibly damaging	Het
Podn	T	C	4: 107,878,695 (GRCm39)	N246D	probably damaging	Het
Prg4	T	C	1: 150,330,243 (GRCm39)		probably benign	Het
R3hdm2	T	C	10: 127,320,390 (GRCm39)	Y523H	probably damaging	Het
Rpf1	T	A	3: 146,213,904 (GRCm39)	E231V	possibly damaging	Het
Slc16a10	C	T	10: 39,932,611 (GRCm39)	E317K	probably benign	Het
Slc34a1	A	T	13: 55,560,078 (GRCm39)	I435F	probably damaging	Het
Snx19	A	G	9: 30,344,683 (GRCm39)	D629G	probably damaging	Het
Tomm70a	T	C	16: 56,966,463 (GRCm39)	I472T	probably benign	Het
Trp53	A	G	11: 69,479,506 (GRCm39)	Y202C	probably damaging	Het
Ttc14	T	A	3: 33,863,403 (GRCm39)		probably benign	Het
Ugt1a1	C	T	1: 88,140,277 (GRCm39)	A185V	possibly damaging	Het
Usp28	A	G	9: 48,939,578 (GRCm39)	D655G	probably damaging	Het
Vmn1r215	C	T	13: 23,260,254 (GRCm39)	T98I	probably damaging	Het
Vmn2r121	G	T	X: 123,041,879 (GRCm39)	T426N	probably benign	Het
Vmn2r99	A	G	17: 19,614,835 (GRCm39)	N852D	probably benign	Het
Xrn2	T	A	2: 146,889,580 (GRCm39)	D654E	probably damaging	Het
Yju2	C	A	17: 56,271,653 (GRCm39)	D191E	probably damaging	Het
Zfp335	C	G	2: 164,738,065 (GRCm39)	A849P	possibly damaging	Het
Zfp954	C	T	7: 7,118,390 (GRCm39)	V385M	probably damaging	Het
Zmynd15	A	G	11: 70,355,052 (GRCm39)	T350A	probably 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
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'- CTGACCATCCTAGAAGCTGCCTTG -3'
(R):5'- CTACACCGTAGTGGGAGCCATTTG -3'

Sequencing Primer
(F):5'- CAGTACACTGGTCCCTGTG -3'
(R):5'- CACAATACCAGTTCTGTTGGG -3'

Posted On

2013-07-24