Mutagenetix > Incidental Mutation

Incidental Mutation 'R2034:Grb14'

224277

Institutional Source

Beutler Lab

Gene Symbol

Grb14

Ensembl Gene

ENSMUSG00000026888

Gene Name

growth factor receptor bound protein 14

Synonyms

MMRRC Submission

040041-MU

Accession Numbers

Essential gene?

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

Stock #

R2034 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

64742820-64853143 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 64753873 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000028252 (fasta)

Gene Model

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

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.2%

Validation Efficiency

100% (71/71)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810408A11Rik	T	C	11: 69,791,385 (GRCm39)	I65V	probably benign	Het
Abca13	A	G	11: 9,242,628 (GRCm39)	N1497S	possibly damaging	Het
Afmid	C	A	11: 117,726,061 (GRCm39)	N184K	probably benign	Het
Ampd2	A	T	3: 107,984,679 (GRCm39)	I459N	possibly damaging	Het
Anapc1	T	C	2: 128,490,378 (GRCm39)	D1018G	possibly damaging	Het
Ano9	T	A	7: 140,688,048 (GRCm39)	I223F	probably damaging	Het
B3gnt6	A	G	7: 97,843,225 (GRCm39)	L245P	possibly damaging	Het
Bag6	G	A	17: 35,363,668 (GRCm39)	R784Q	probably damaging	Het
Brca1	C	G	11: 101,380,675 (GRCm39)	S1786T	probably benign	Het
Btbd3	T	G	2: 138,120,903 (GRCm39)	S26A	probably benign	Het
Cacna1d	C	A	14: 29,811,820 (GRCm39)	V1277L	probably damaging	Het
Casp12	C	T	9: 5,346,491 (GRCm39)	T6I	probably damaging	Het
Col7a1	T	C	9: 108,792,075 (GRCm39)	V1262A	unknown	Het
Crh	C	A	3: 19,748,262 (GRCm39)	G127C	probably damaging	Het
D5Ertd579e	A	T	5: 36,770,882 (GRCm39)	L64*	probably null	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Ddc	T	A	11: 11,830,456 (GRCm39)	I63L	probably benign	Het
Eif3a	C	T	19: 60,750,568 (GRCm39)		probably benign	Het
Fsip2	T	A	2: 82,819,838 (GRCm39)	N5190K	probably benign	Het
Gm5420	A	G	10: 21,567,512 (GRCm39)		noncoding transcript	Het
Gsap	A	T	5: 21,475,593 (GRCm39)	I545F	probably damaging	Het
Hectd1	A	T	12: 51,803,899 (GRCm39)		probably null	Het
Helz2	G	A	2: 180,874,371 (GRCm39)	P2041L	probably damaging	Het
Herc1	G	A	9: 66,349,254 (GRCm39)	A2038T	probably benign	Het
Il10	C	A	1: 130,951,922 (GRCm39)	Q152K	probably benign	Het
Klrg1	A	G	6: 122,256,596 (GRCm39)		probably null	Het
Lrig2	T	C	3: 104,401,408 (GRCm39)	T160A	probably benign	Het
Mmd2	A	T	5: 142,560,939 (GRCm39)		probably null	Het
Mmp2	C	T	8: 93,563,540 (GRCm39)	S338F	probably damaging	Het
Nalcn	T	G	14: 123,521,015 (GRCm39)	D1630A	probably benign	Het
Ncoa2	T	C	1: 13,235,207 (GRCm39)	S909G	probably benign	Het
Neb	A	T	2: 52,170,623 (GRCm39)	M1683K	possibly damaging	Het
Nfe2l3	A	G	6: 51,435,350 (GRCm39)	I637V	possibly damaging	Het
Npw	G	A	17: 24,877,242 (GRCm39)	S53F	probably damaging	Het
Nrbf2	A	T	10: 67,111,343 (GRCm39)		probably benign	Het
Nrros	C	T	16: 31,962,975 (GRCm39)	W311*	probably null	Het
Nup188	T	A	2: 30,200,097 (GRCm39)		probably benign	Het
Or4k15c	T	C	14: 50,321,440 (GRCm39)	M233V	probably benign	Het
Or5b21	T	A	19: 12,839,151 (GRCm39)	M4K	possibly damaging	Het
Parp4	A	T	14: 56,871,720 (GRCm39)	I1133F	probably damaging	Het
Pcdhb11	T	C	18: 37,555,546 (GRCm39)	V292A	probably benign	Het
Pcnx2	A	G	8: 126,545,406 (GRCm39)		probably null	Het
Phf2	A	G	13: 48,971,206 (GRCm39)	S489P	unknown	Het
Pik3r5	T	A	11: 68,384,403 (GRCm39)	N598K	probably damaging	Het
Pikfyve	A	T	1: 65,261,516 (GRCm39)	E432D	probably damaging	Het
Pink1	T	C	4: 138,045,343 (GRCm39)	I274V	possibly damaging	Het
Pkhd1	G	A	1: 20,270,893 (GRCm39)	T3220I	probably damaging	Het
Plxna2	A	G	1: 194,462,902 (GRCm39)	I890V	probably benign	Het
Pomgnt1	T	C	4: 116,015,124 (GRCm39)	V492A	possibly damaging	Het
Prp2	G	T	6: 132,572,947 (GRCm39)		probably null	Het
Rabl6	T	C	2: 25,475,444 (GRCm39)	E543G	possibly damaging	Het
Rgp1	T	A	4: 43,581,605 (GRCm39)		probably null	Het
Rps6kb2	T	C	19: 4,211,106 (GRCm39)	T140A	probably damaging	Het
S100a11	T	C	3: 93,433,429 (GRCm39)	I91T	probably benign	Het
Serpine2	A	G	1: 79,774,569 (GRCm39)	L230P	probably damaging	Het
Sh3tc2	A	G	18: 62,120,737 (GRCm39)	D370G	probably damaging	Het
Sim2	A	C	16: 93,886,801 (GRCm39)	I43L	probably damaging	Het
Skp2	C	A	15: 9,113,786 (GRCm39)	G376C	probably damaging	Het
Slc14a2	A	G	18: 78,226,798 (GRCm39)	L419P	probably damaging	Het
Srgap1	C	T	10: 121,628,651 (GRCm39)	E817K	probably damaging	Het
Stag3	A	G	5: 138,296,263 (GRCm39)	E442G	possibly damaging	Het
Sulf1	A	G	1: 12,890,645 (GRCm39)	N361S	probably damaging	Het
Tmco6	A	G	18: 36,870,909 (GRCm39)		probably null	Het
Tmem104	T	A	11: 115,134,373 (GRCm39)	I303N	probably benign	Het
Ttll6	G	T	11: 96,026,352 (GRCm39)	D86Y	probably damaging	Het
Tut4	C	T	4: 108,369,392 (GRCm39)	R651W	probably damaging	Het
Vmn1r120	T	G	7: 20,786,883 (GRCm39)	E276A	possibly damaging	Het
Vmn1r64	A	G	7: 5,886,988 (GRCm39)	M185T	probably benign	Het
Vmn2r85	A	T	10: 130,262,242 (GRCm39)		probably benign	Het
Vwa3a	A	T	7: 120,381,868 (GRCm39)	K568*	probably null	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
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
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'- CACATGTCATAACGGCACAG -3'
(R):5'- ATTGATAGTATGTGACTGTTGAAGGT -3'

Sequencing Primer
(F):5'- GGCTTACAGAAGTCTTTCAATTCGC -3'
(R):5'- GTGTTGACATTCAGTGAGTTGATAAC -3'

Posted On

2014-08-25