Mutagenetix > Incidental Mutation

Incidental Mutation 'R8290:Grb14'

638615

Institutional Source

Beutler Lab

Gene Symbol

Grb14

Ensembl Gene

ENSMUSG00000026888

Gene Name

growth factor receptor bound protein 14

Synonyms

MMRRC Submission

067712-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.152) question?

Stock #

R8290 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

64742820-64853143 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 64805929 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 12 (A12E)

Ref Sequence

ENSEMBL: ENSMUSP00000121001 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028252] [ENSMUST00000156765]

AlphaFold

Q9JLM9

Predicted Effect

probably benign
Transcript: ENSMUST00000028252

SMART Domains

Protein: ENSMUSP00000028252
Gene: ENSMUSG00000026888

Domain	Start	End	E-Value	Type
RA	104	190	2.88e-23	SMART
PH	233	342	1.91e-10	SMART
Pfam:BPS	367	415	1.5e-31	PFAM
SH2	435	524	5.34e-28	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000156765
AA Change: A12E

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000121001
Gene: ENSMUSG00000026888
AA Change: A12E

Domain	Start	End	E-Value	Type
RA	19	105	1.87e-22	SMART
Pfam:PH	148	221	5.3e-8	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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. This protein likely has an inhibitory effect on receptor tyrosine kinase signaling and, in particular, on insulin receptor signaling. This gene may play a role in signaling pathways that regulate growth and metabolism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
PHENOTYPE: Homozygous mutation of this gene results in improved glucose tolerance, lower circulating insulin levels and increased incorporation of glucose into glycogen in the liver and skeletal muscle of males. Both males and females exhibit a decrease in body size. [provided by MGI curators]

Allele List at MGI

All alleles(3) : Targeted(3)

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	A	T	8: 87,238,911 (GRCm39)	Y1100N	probably damaging	Het
Abcf2	CAT	CATAAT	5: 24,781,589 (GRCm39)		probably benign	Het
Adgrv1	T	C	13: 81,630,002 (GRCm39)	T3576A	probably benign	Het
Adnp2	A	T	18: 80,185,948 (GRCm39)	N8K	probably damaging	Het
Aftph	A	T	11: 20,675,712 (GRCm39)	H632Q	probably benign	Het
Arhgef11	A	T	3: 87,633,275 (GRCm39)	I710F	probably damaging	Het
Atp6v1c2	T	C	12: 17,338,153 (GRCm39)	N341S	possibly damaging	Het
Ccsap	T	G	8: 124,585,986 (GRCm39)	D55A	probably benign	Het
Cdh17	A	G	4: 11,817,037 (GRCm39)	N816S	probably benign	Het
Celf3	A	G	3: 94,386,489 (GRCm39)	I26V	probably benign	Het
Celsr1	G	T	15: 85,917,286 (GRCm39)	S229*	probably null	Het
Chek2	A	G	5: 111,008,766 (GRCm39)	E299G	possibly damaging	Het
Clca3a2	A	G	3: 144,793,719 (GRCm39)	V312A	possibly damaging	Het
Cnn1	A	G	9: 22,012,447 (GRCm39)	K25R	probably benign	Het
Cry1	A	T	10: 84,978,977 (GRCm39)	Y516*	probably null	Het
Dcaf4	T	C	12: 83,588,333 (GRCm39)	S498P	probably benign	Het
Dmgdh	T	C	13: 93,843,244 (GRCm39)	V360A	probably benign	Het
Dnajc18	G	A	18: 35,816,324 (GRCm39)	R205*	probably null	Het
Eif4a2	G	T	16: 22,927,372 (GRCm39)	G22C	probably damaging	Het
Elmo2	A	G	2: 165,150,923 (GRCm39)	I196T	probably damaging	Het
Epha3	A	G	16: 63,472,859 (GRCm39)	I342T	possibly damaging	Het
Epha8	G	T	4: 136,665,897 (GRCm39)	L420M	probably damaging	Het
Etf1	G	A	18: 35,064,891 (GRCm39)	P35L	unknown	Het
Etnk2	A	C	1: 133,307,127 (GRCm39)	*386C	probably null	Het
Fgg	A	T	3: 82,920,141 (GRCm39)	I307F	probably benign	Het
Flg2	A	G	3: 93,110,069 (GRCm39)	Q699R	unknown	Het
Foxp4	T	A	17: 48,191,778 (GRCm39)	T120S	unknown	Het
Fzd1	A	G	5: 4,807,060 (GRCm39)	V174A	possibly damaging	Het
Gad1	A	C	2: 70,404,610 (GRCm39)	I167L	probably benign	Het
Gfm2	T	A	13: 97,282,171 (GRCm39)	D55E	probably benign	Het
Hnmt	A	C	2: 23,893,896 (GRCm39)	Y199*	probably null	Het
Kit	A	G	5: 75,801,829 (GRCm39)	I615V	probably benign	Het
Kpna6	A	G	4: 129,555,097 (GRCm39)		probably null	Het
Lpxn	C	T	19: 12,810,052 (GRCm39)	R275C	probably damaging	Het
Magi1	C	T	6: 94,260,066 (GRCm39)	G80S	probably damaging	Het
Men1	A	G	19: 6,388,316 (GRCm39)	I312V	probably benign	Het
Msx2	A	G	13: 53,622,528 (GRCm39)	F161L	probably damaging	Het
Mtr	T	C	13: 12,205,139 (GRCm39)	D1107G	probably damaging	Het
Muc4	A	T	16: 32,575,434 (GRCm39)	M1397L	probably benign	Het
Mybpc3	A	G	2: 90,951,473 (GRCm39)	N259S	probably benign	Het
Myo5c	A	G	9: 75,196,178 (GRCm39)	K1242R	probably benign	Het
Myoc	T	C	1: 162,476,601 (GRCm39)	V435A	possibly damaging	Het
Nbea	G	A	3: 55,966,056 (GRCm39)	Q469*	probably null	Het
Ndufa10	A	C	1: 92,390,869 (GRCm39)	M227R	possibly damaging	Het
Obscn	C	T	11: 58,953,536 (GRCm39)	D3831N	probably damaging	Het
Obscn	T	C	11: 59,015,400 (GRCm39)	E1024G	probably damaging	Het
Oma1	T	C	4: 103,176,671 (GRCm39)	L145P	probably damaging	Het
Phf11	T	C	14: 59,485,418 (GRCm39)	Y114C	probably damaging	Het
Phf12	C	A	11: 77,920,465 (GRCm39)	N1000K	probably benign	Het
Plxnb1	G	T	9: 108,938,687 (GRCm39)	A1350S	probably benign	Het
Prkd1	C	T	12: 50,388,799 (GRCm39)	V915I	probably damaging	Het
Prkra	T	A	2: 76,463,982 (GRCm39)	N227Y	probably damaging	Het
Prtg	A	T	9: 72,798,077 (GRCm39)	H681L	probably damaging	Het
Rtn1	T	C	12: 72,355,193 (GRCm39)	K251R	probably benign	Het
Sema6b	A	T	17: 56,431,803 (GRCm39)	V620E	possibly damaging	Het
Senp7	T	A	16: 55,974,000 (GRCm39)	L407*	probably null	Het
Sh3pxd2a	A	T	19: 47,302,575 (GRCm39)	L168Q	probably damaging	Het
Shtn1	A	G	19: 58,988,326 (GRCm39)	L453P	probably damaging	Het
Slc26a6	G	A	9: 108,733,230 (GRCm39)	R43H	probably benign	Het
Stac3	T	C	10: 127,339,229 (GRCm39)		probably null	Het
Taf2	A	G	15: 54,926,416 (GRCm39)	F178S	probably damaging	Het
Tcp10a	G	A	17: 7,601,716 (GRCm39)	E239K	probably benign	Het
Ubox5	A	G	2: 130,442,333 (GRCm39)	V118A	probably damaging	Het
Unc13d	C	A	11: 115,958,973 (GRCm39)	L729F	probably damaging	Het
Vmn1r228	T	C	17: 20,996,724 (GRCm39)	T265A	probably benign	Het
Vmn2r100	G	A	17: 19,751,612 (GRCm39)	V615I	probably damaging	Het
Vmn2r60	T	G	7: 41,791,690 (GRCm39)	C538G	probably damaging	Het
Vmn2r93	A	T	17: 18,524,291 (GRCm39)	N95I	probably damaging	Het
Vsig2	A	G	9: 37,451,264 (GRCm39)	N55S	probably benign	Het
Zfp472	A	G	17: 33,197,088 (GRCm39)	T388A	probably benign	Het
Zfp853	G	A	5: 143,274,826 (GRCm39)	Q214*	probably null	Het
Zfp949	A	G	9: 88,451,293 (GRCm39)	R288G	probably damaging	Het

Other mutations in Grb14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00780:Grb14	APN	2	64,745,062 (GRCm39)	missense	probably damaging	1.00
IGL02267:Grb14	APN	2	64,783,960 (GRCm39)	missense	probably damaging	1.00
IGL02902:Grb14	APN	2	64,768,762 (GRCm39)	missense	probably damaging	1.00
R0066:Grb14	UTSW	2	64,768,836 (GRCm39)	critical splice acceptor site	probably null
R0066:Grb14	UTSW	2	64,768,836 (GRCm39)	critical splice acceptor site	probably null
R0658:Grb14	UTSW	2	64,745,071 (GRCm39)	nonsense	probably null
R0681:Grb14	UTSW	2	64,747,631 (GRCm39)	missense	probably damaging	1.00
R1215:Grb14	UTSW	2	64,747,608 (GRCm39)	missense	probably benign	0.01
R1781:Grb14	UTSW	2	64,805,899 (GRCm39)	critical splice donor site	probably null
R1932:Grb14	UTSW	2	64,743,146 (GRCm39)	missense	probably damaging	1.00
R2034:Grb14	UTSW	2	64,753,873 (GRCm39)	splice site	probably benign
R4405:Grb14	UTSW	2	64,783,966 (GRCm39)	missense	probably damaging	1.00
R4505:Grb14	UTSW	2	64,852,912 (GRCm39)	missense	probably damaging	0.97
R4580:Grb14	UTSW	2	64,783,947 (GRCm39)	missense	probably benign	0.29
R5216:Grb14	UTSW	2	64,747,653 (GRCm39)	missense	probably benign	0.00
R5367:Grb14	UTSW	2	64,747,653 (GRCm39)	missense	probably benign	0.00
R5369:Grb14	UTSW	2	64,747,653 (GRCm39)	missense	probably benign	0.00
R5382:Grb14	UTSW	2	64,745,078 (GRCm39)	missense	probably damaging	1.00
R5457:Grb14	UTSW	2	64,747,442 (GRCm39)	missense	probably damaging	1.00
R5816:Grb14	UTSW	2	64,747,628 (GRCm39)	missense	probably damaging	1.00
R6062:Grb14	UTSW	2	64,852,964 (GRCm39)	missense	possibly damaging	0.77
R7114:Grb14	UTSW	2	64,747,197 (GRCm39)	missense	probably damaging	1.00
R8540:Grb14	UTSW	2	64,851,478 (GRCm39)	missense	probably benign	0.14
R9318:Grb14	UTSW	2	64,852,985 (GRCm39)	missense	probably damaging	1.00
R9474:Grb14	UTSW	2	64,768,744 (GRCm39)	missense	probably damaging	0.96
R9572:Grb14	UTSW	2	64,763,680 (GRCm39)	missense	probably damaging	0.99
X0021:Grb14	UTSW	2	64,766,769 (GRCm39)	missense	probably null	0.26

Predicted Primers

PCR Primer
(F):5'- GCATTTGCCCTGACTTTGAGTC -3'
(R):5'- CATCCTTAATTGGCTTTGGGTAGC -3'

Sequencing Primer
(F):5'- GCCCTGACTTTGAGTCCAATAATATG -3'
(R):5'- TAGCCTGGGATCACAGAGGC -3'

Posted On

2020-07-28