Mutagenetix > Incidental Mutation

Incidental Mutation 'R4580:Grb14'

343559

Institutional Source

Beutler Lab

Gene Symbol

Grb14

Ensembl Gene

ENSMUSG00000026888

Gene Name

growth factor receptor bound protein 14

Synonyms

MMRRC Submission

041599-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.155) question?

Stock #

R4580 (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 64783947 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 60 (N60S)

Ref Sequence

ENSEMBL: ENSMUSP00000121001 (fasta)

Gene Model

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

AlphaFold

Q9JLM9

Predicted Effect

probably benign
Transcript: ENSMUST00000028252
AA Change: N145S

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000028252
Gene: ENSMUSG00000026888
AA Change: N145S

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 benign
Transcript: ENSMUST00000156765
AA Change: N60S

PolyPhen 2 Score 0.290 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000121001
Gene: ENSMUSG00000026888
AA Change: N60S

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: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.9%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810408A11Rik	T	C	11: 69,791,237 (GRCm39)	Y114C	probably damaging	Het
Abcc2	T	C	19: 43,799,558 (GRCm39)	S556P	probably damaging	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 117,721,122 (GRCm39)		probably benign	Het
Atp6v1g1	A	G	4: 63,468,269 (GRCm39)	N91D	probably benign	Het
BC005537	G	T	13: 24,987,394 (GRCm39)	A11S	probably benign	Het
Bltp1	A	T	3: 37,084,174 (GRCm39)	T3864S	probably benign	Het
Bub1	A	C	2: 127,671,596 (GRCm39)		probably null	Het
Ccdc162	T	C	10: 41,437,136 (GRCm39)	T1758A	probably benign	Het
Cdh15	T	C	8: 123,591,897 (GRCm39)	L594P	probably damaging	Het
Cobll1	C	T	2: 64,981,417 (GRCm39)	V90I	probably benign	Het
Cog2	T	C	8: 125,271,875 (GRCm39)	V463A	probably benign	Het
Cpeb4	T	A	11: 31,877,757 (GRCm39)		probably null	Het
Creb5	G	A	6: 53,581,519 (GRCm39)	M172I	possibly damaging	Het
Cyp4a32	T	C	4: 115,460,126 (GRCm39)		silent	Het
Dnah8	T	A	17: 30,881,026 (GRCm39)	S588T	probably benign	Het
Ecpas	T	C	4: 58,840,751 (GRCm39)	Y669C	probably damaging	Het
Esd	T	C	14: 74,979,517 (GRCm39)	V120A	possibly damaging	Het
Fbxo5	T	C	10: 5,755,255 (GRCm39)		probably null	Het
Gm4922	T	C	10: 18,659,432 (GRCm39)	D430G	probably benign	Het
Golga4	C	A	9: 118,386,327 (GRCm39)	Q1150K	probably benign	Het
Grk4	A	G	5: 34,818,325 (GRCm39)	N2S	probably damaging	Het
Henmt1	T	A	3: 108,850,081 (GRCm39)	S21R	probably benign	Het
Ifngr2	A	G	16: 91,354,906 (GRCm39)	K113E	probably benign	Het
Ighv15-2	T	A	12: 114,528,590 (GRCm39)	T15S	probably benign	Het
Kif24	A	G	4: 41,395,287 (GRCm39)	S529P	probably damaging	Het
Large2	T	C	2: 92,200,957 (GRCm39)	N51S	possibly damaging	Het
Lmtk2	A	G	5: 144,111,599 (GRCm39)	E773G	possibly damaging	Het
Lrfn3	A	T	7: 30,059,467 (GRCm39)	C253S	probably damaging	Het
Maea	T	C	5: 33,517,832 (GRCm39)	V130A	possibly damaging	Het
Marchf11	A	T	15: 26,311,189 (GRCm39)	I222F	probably damaging	Het
Mast4	A	T	13: 102,873,766 (GRCm39)	Y1699*	probably null	Het
Mavs	G	T	2: 131,082,370 (GRCm39)	A85S	probably damaging	Het
Mpzl3	T	A	9: 44,979,529 (GRCm39)	V160E	possibly damaging	Het
Myh15	T	C	16: 48,885,388 (GRCm39)	S88P	possibly damaging	Het
Myl2	A	T	5: 122,244,801 (GRCm39)	H157L	probably benign	Het
Myo9b	A	G	8: 71,767,779 (GRCm39)	N284S	probably damaging	Het
Nphp1	A	G	2: 127,610,089 (GRCm39)		probably null	Het
Nrcam	T	C	12: 44,609,323 (GRCm39)		probably null	Het
Nt5c3b	G	T	11: 100,323,885 (GRCm39)	F134L	probably damaging	Het
Or4c120	T	A	2: 89,001,544 (GRCm39)	Q4L	probably benign	Het
Otog	A	G	7: 45,937,225 (GRCm39)	R1645G	possibly damaging	Het
Pask	T	C	1: 93,249,830 (GRCm39)	I523M	probably benign	Het
Pcdhb7	T	A	18: 37,475,188 (GRCm39)	L108Q	probably damaging	Het
Pdp2	C	A	8: 105,321,576 (GRCm39)	T475K	probably damaging	Het
Pgbd1	G	C	13: 21,612,499 (GRCm39)	P113A	probably benign	Het
Plk5	C	T	10: 80,196,301 (GRCm39)	H291Y	possibly damaging	Het
Pmpca	G	T	2: 26,283,347 (GRCm39)	S382I	probably damaging	Het
Prl3b1	A	G	13: 27,433,450 (GRCm39)	T202A	possibly damaging	Het
Ptgs2	A	T	1: 149,979,845 (GRCm39)	T317S	possibly damaging	Het
Ptprc	C	T	1: 137,998,989 (GRCm39)	M1020I	probably benign	Het
Rhbdl3	T	C	11: 80,244,471 (GRCm39)	Y393H	probably damaging	Het
Sema3e	T	C	5: 14,283,717 (GRCm39)	L482P	probably damaging	Het
Setd2	C	T	9: 110,403,311 (GRCm39)	T1984I	probably benign	Het
Slc17a1	T	C	13: 24,071,960 (GRCm39)	Y393H	probably damaging	Het
Slc9a3	C	T	13: 74,307,005 (GRCm39)	R377*	probably null	Het
Slitrk3	A	G	3: 72,958,539 (GRCm39)	S78P	probably damaging	Het
Smim35	G	T	9: 45,155,426 (GRCm39)		probably null	Het
Specc1	T	A	11: 62,110,157 (GRCm39)	V1054E	probably damaging	Het
Tbc1d4	T	C	14: 101,696,219 (GRCm39)	T847A	probably benign	Het
Tcf7l2	G	A	19: 55,907,468 (GRCm39)	G343R	probably damaging	Het
Tex36	A	C	7: 133,189,111 (GRCm39)	Y154D	possibly damaging	Het
Topaz1	T	A	9: 122,576,580 (GRCm39)	M57K	probably null	Het
Trav6-4	T	C	14: 53,692,156 (GRCm39)	Y85H	probably damaging	Het
Trim30d	A	G	7: 104,121,765 (GRCm39)	Y327H	possibly damaging	Het
Ttn	A	G	2: 76,781,740 (GRCm39)	V1056A	probably benign	Het
Usp32	C	A	11: 84,949,953 (GRCm39)		probably null	Het
Vmn1r59	A	T	7: 5,457,136 (GRCm39)	M208K	probably damaging	Het
Vmn2r25	T	C	6: 123,799,982 (GRCm39)	T787A	possibly damaging	Het
Vps39	A	T	2: 120,169,814 (GRCm39)	I246N	probably benign	Het
Xab2	T	C	8: 3,660,162 (GRCm39)	D855G	probably damaging	Het
Xpc	A	G	6: 91,476,993 (GRCm39)	S369P	probably benign	Het
Ythdc2	T	A	18: 44,991,265 (GRCm39)	C758S	possibly damaging	Het
Zfp62	A	G	11: 49,107,099 (GRCm39)	I397V	possibly damaging	Het
Zscan4d	A	G	7: 10,896,435 (GRCm39)	S312P	probably benign	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
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'- TTTGTCCACAAACTAATGGCCC -3'
(R):5'- ACTATTCTAAAGGCTGTGGGAG -3'

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

Posted On

2015-09-24