Mutagenetix > Incidental Mutation

Incidental Mutation 'R4405:Grb14'

327590

Institutional Source

Beutler Lab

Gene Symbol

Grb14

Ensembl Gene

ENSMUSG00000026888

Gene Name

growth factor receptor bound protein 14

Synonyms

MMRRC Submission

041134-MU

Accession Numbers

Essential gene?

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

Stock #

R4405 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

64742820-64853143 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 64783966 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 54 (N54D)

Ref Sequence

ENSEMBL: ENSMUSP00000121001 (fasta)

Gene Model

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

AlphaFold

Q9JLM9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028252
AA Change: N139D

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000028252
Gene: ENSMUSG00000026888
AA Change: N139D

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

noncoding transcript
Transcript: ENSMUST00000145603

Predicted Effect

probably damaging
Transcript: ENSMUST00000156765
AA Change: N54D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000121001
Gene: ENSMUSG00000026888
AA Change: N54D

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: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg3	C	T	8: 95,763,536 (GRCm39)	A279V	probably benign	Het
Aggf1	G	A	13: 95,508,102 (GRCm39)	P88L	probably benign	Het
Asb18	T	C	1: 89,896,411 (GRCm39)	T210A	probably benign	Het
Cd8b1	C	T	6: 71,303,006 (GRCm39)	S27L	possibly damaging	Het
Cfap43	C	T	19: 47,728,236 (GRCm39)	S1507N	possibly damaging	Het
Col12a1	A	T	9: 79,547,247 (GRCm39)		probably null	Het
Col19a1	G	A	1: 24,573,190 (GRCm39)	T194M	unknown	Het
Cpb1	T	A	3: 20,317,733 (GRCm39)	T237S	probably benign	Het
Cubn	G	A	2: 13,470,841 (GRCm39)	T517M	probably damaging	Het
Dnah6	T	C	6: 73,106,274 (GRCm39)	N1769S	probably benign	Het
Dnm1	A	G	2: 32,225,984 (GRCm39)	I365T	probably damaging	Het
E2f5	T	A	3: 14,668,823 (GRCm39)	D238E	probably benign	Het
Etv6	A	G	6: 134,210,497 (GRCm39)	E115G	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Gapvd1	C	T	2: 34,618,747 (GRCm39)	V209I	probably damaging	Het
Gbp8	G	A	5: 105,198,928 (GRCm39)		probably benign	Het
Gprc6a	T	C	10: 51,504,639 (GRCm39)	I68M	probably benign	Het
Gucy2g	A	T	19: 55,226,269 (GRCm39)	F216I	probably benign	Het
Herc2	T	A	7: 55,820,225 (GRCm39)	L2849Q	probably damaging	Het
Hsd17b4	G	T	18: 50,261,381 (GRCm39)		probably benign	Het
Igkv9-129	T	A	6: 67,816,784 (GRCm39)	M3K	probably damaging	Het
Iqcd	A	T	5: 120,740,485 (GRCm39)	E272V	probably damaging	Het
Itih2	A	T	2: 10,111,548 (GRCm39)	Y463*	probably null	Het
Kcna10	G	A	3: 107,102,781 (GRCm39)	E471K	possibly damaging	Het
Klf3	A	T	5: 64,986,347 (GRCm39)	E294V	possibly damaging	Het
Lancl1	A	T	1: 67,060,015 (GRCm39)		probably null	Het
Ldaf1	T	G	7: 119,714,714 (GRCm39)	F68V	probably damaging	Het
Lrig3	T	C	10: 125,846,877 (GRCm39)	F882L	probably benign	Het
Man2c1	A	G	9: 57,046,367 (GRCm39)	N474S	probably damaging	Het
Map4k3	A	G	17: 80,922,444 (GRCm39)		probably null	Het
Mast1	C	A	8: 85,647,520 (GRCm39)	W572C	probably damaging	Het
Mbd4	T	A	6: 115,826,076 (GRCm39)	Q305L	possibly damaging	Het
Mbl2	T	A	19: 30,216,916 (GRCm39)	S243T	probably benign	Het
Mcph1	C	T	8: 18,682,557 (GRCm39)	P565S	probably benign	Het
Mfsd1	G	C	3: 67,507,943 (GRCm39)	V435L	probably benign	Het
Mycbp2	C	T	14: 103,360,881 (GRCm39)	G1183D	probably damaging	Het
Myof	A	G	19: 37,911,426 (GRCm39)	S1502P	probably damaging	Het
Noa1	A	T	5: 77,454,219 (GRCm39)	S474T	probably benign	Het
Nrde2	A	G	12: 100,096,843 (GRCm39)	Y986H	probably benign	Het
Oca2	G	T	7: 56,064,182 (GRCm39)	V726F	possibly damaging	Het
Or2ag13	T	A	7: 106,472,580 (GRCm39)	S291C	probably damaging	Het
Or7a41	A	T	10: 78,871,244 (GRCm39)	M205L	probably benign	Het
Pip5k1a	A	G	3: 94,975,370 (GRCm39)		probably null	Het
Plekhn1	A	T	4: 156,309,730 (GRCm39)		probably null	Het
Sec61a2	T	C	2: 5,887,670 (GRCm39)	D104G	probably benign	Het
Skic3	A	T	13: 76,303,784 (GRCm39)	Y1234F	probably damaging	Het
Slc25a36	T	C	9: 96,967,171 (GRCm39)	T131A	probably benign	Het
Slc5a11	A	T	7: 122,857,700 (GRCm39)	D263V	probably damaging	Het
Sorbs1	T	C	19: 40,384,189 (GRCm39)	I35V	probably benign	Het
Speer3	C	G	5: 13,846,394 (GRCm39)	A238G	possibly damaging	Het
Tbc1d1	T	C	5: 64,331,013 (GRCm39)	V64A	possibly damaging	Het
Ubqlnl	C	T	7: 103,798,925 (GRCm39)	V191M	probably benign	Het
Vmn1r20	A	G	6: 57,409,042 (GRCm39)	M123V	probably benign	Het
Zwint	T	C	10: 72,492,095 (GRCm39)	L59P	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
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
R8290:Grb14	UTSW	2	64,805,929 (GRCm39)	missense	probably benign	0.02
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'- AACTCCTCAGCATAATCTGTCTG -3'
(R):5'- GGCACTATTCTAAAGGCTGTGG -3'

Sequencing Primer
(F):5'- GCTTTTCTGCAGGGGAAGAAAGTC -3'
(R):5'- CACCAGGGTAGTGCAAATCTCTTG -3'

Posted On

2015-07-07