Mutagenetix > Incidental Mutation

Incidental Mutation 'R1932:Grb14'

215431

Institutional Source

Beutler Lab

Gene Symbol

Grb14

Ensembl Gene

ENSMUSG00000026888

Gene Name

growth factor receptor bound protein 14

Synonyms

MMRRC Submission

039950-MU

Accession Numbers

Essential gene?

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

Stock #

R1932 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

64742820-64853143 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 64743146 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 508 (F508L)

Ref Sequence

ENSEMBL: ENSMUSP00000028252 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028252] [ENSMUST00000149193] [ENSMUST00000150643]

AlphaFold

Q9JLM9

Predicted Effect

probably damaging
Transcript: ENSMUST00000028252
AA Change: F508L

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

SMART Domains

Protein: ENSMUSP00000028252
Gene: ENSMUSG00000026888
AA Change: F508L

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: ENSMUST00000134020

Predicted Effect

probably benign
Transcript: ENSMUST00000149193

SMART Domains

Protein: ENSMUSP00000118115
Gene: ENSMUSG00000026888

Domain	Start	End	E-Value	Type
Pfam:BPS	1	24	3e-13	PFAM
SH2	44	108	2.54e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000150643

SMART Domains

Protein: ENSMUSP00000121571
Gene: ENSMUSG00000026888

Domain	Start	End	E-Value	Type
Pfam:BPS	1	49	3.1e-34	PFAM
SCOP:d1a81a2	51	93	3e-8	SMART
Blast:RA	61	93	1e-12	BLAST
PDB:2AUG\|B	65	93	4e-12	PDB

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.3%

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg4	T	A	9: 44,190,691 (GRCm39)	Q278H	probably benign	Het
Ace3	T	C	11: 105,895,436 (GRCm39)		probably null	Het
Aco1	T	C	4: 40,176,499 (GRCm39)	V221A	probably damaging	Het
Adamts20	T	A	15: 94,301,891 (GRCm39)	H27L	probably benign	Het
Adamts8	A	G	9: 30,867,808 (GRCm39)	D544G	probably benign	Het
Angptl4	C	A	17: 34,000,249 (GRCm39)	E40*	probably null	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Atf7ip2	T	A	16: 10,059,567 (GRCm39)	I369N	possibly damaging	Het
Atp6ap1l	T	A	13: 91,031,806 (GRCm39)	Y292F	probably damaging	Het
Atp6v1b2	A	T	8: 69,555,459 (GRCm39)	K217*	probably null	Het
Bid	C	T	6: 120,874,216 (GRCm39)	A110T	possibly damaging	Het
Blvra	T	A	2: 126,937,068 (GRCm39)	W174R	probably damaging	Het
Catsperg1	C	T	7: 28,897,568 (GRCm39)	G239R	probably damaging	Het
Ccdc157	G	T	11: 4,096,549 (GRCm39)	A400D	probably damaging	Het
Chd2	G	T	7: 73,104,193 (GRCm39)	P1298T	probably damaging	Het
CK137956	G	A	4: 127,840,651 (GRCm39)	L352F	possibly damaging	Het
Col22a1	G	A	15: 71,741,989 (GRCm39)	P503S	unknown	Het
Cox15	C	T	19: 43,735,224 (GRCm39)	R181H	probably benign	Het
Crem	C	T	18: 3,299,284 (GRCm39)	G47R	probably benign	Het
Crygs	T	A	16: 22,625,304 (GRCm39)	T46S	probably benign	Het
Cts8	T	A	13: 61,401,429 (GRCm39)	H62L	probably damaging	Het
Cyp4a32	T	A	4: 115,468,474 (GRCm39)	F319I	possibly damaging	Het
Dchs1	T	C	7: 105,415,109 (GRCm39)	S692G	probably damaging	Het
Ddx23	G	A	15: 98,548,599 (GRCm39)	R370W	possibly damaging	Het
Defa29	A	T	8: 21,816,865 (GRCm39)	S43T	probably damaging	Het
Dnajc14	A	G	10: 128,652,661 (GRCm39)	D573G	probably damaging	Het
Drd5	A	G	5: 38,477,319 (GRCm39)	Y104C	probably benign	Het
Efcab7	C	T	4: 99,768,215 (GRCm39)	P102L	probably damaging	Het
Efhc1	A	G	1: 21,037,624 (GRCm39)	Y267C	probably damaging	Het
Eif2ak4	T	C	2: 118,278,967 (GRCm39)	Y243H	probably damaging	Het
Gfm2	T	A	13: 97,278,475 (GRCm39)	I7N	probably damaging	Het
Gmds	A	G	13: 32,311,980 (GRCm39)	F150L	possibly damaging	Het
Gp2	T	C	7: 119,053,455 (GRCm39)	T169A	possibly damaging	Het
Hdac5	T	A	11: 102,086,698 (GRCm39)		probably benign	Het
Heatr1	T	A	13: 12,450,066 (GRCm39)	M620K	probably damaging	Het
Herc3	A	G	6: 58,853,778 (GRCm39)	E608G	probably damaging	Het
Hoxb4	T	C	11: 96,210,867 (GRCm39)	Y156H	probably damaging	Het
Ifi205	T	A	1: 173,855,980 (GRCm39)	I17F	possibly damaging	Het
Il2rb	A	T	15: 78,375,977 (GRCm39)	S25T	possibly damaging	Het
Kansl1	T	C	11: 104,225,923 (GRCm39)	T998A	probably damaging	Het
Kcna6	G	T	6: 126,715,451 (GRCm39)	H479Q	probably benign	Het
Kif2a	T	C	13: 107,114,599 (GRCm39)	K350R	probably benign	Het
Lct	G	T	1: 128,221,898 (GRCm39)	A1547E	probably damaging	Het
Lhx9	T	A	1: 138,769,747 (GRCm39)		probably benign	Het
Lingo1	T	A	9: 56,526,934 (GRCm39)	I552F	possibly damaging	Het
Lrp4	G	A	2: 91,327,700 (GRCm39)	W1516*	probably null	Het
Lrp5	C	T	19: 3,660,131 (GRCm39)	V978I	probably benign	Het
Ltbp1	T	A	17: 75,620,029 (GRCm39)	D719E	probably benign	Het
Ltbp4	A	G	7: 27,007,191 (GRCm39)		probably null	Het
Macf1	A	G	4: 123,345,830 (GRCm39)	I1326T	probably damaging	Het
Manba	T	C	3: 135,250,501 (GRCm39)	F376S	probably benign	Het
Mink1	T	C	11: 70,499,254 (GRCm39)		probably null	Het
Nfatc2ip	C	T	7: 125,984,164 (GRCm39)	V410I	probably damaging	Het
Nlrp1b	A	T	11: 71,072,964 (GRCm39)	I293N	probably damaging	Het
Or10aa3	T	C	1: 173,878,244 (GRCm39)	Y102H	probably damaging	Het
Otol1	A	C	3: 69,935,437 (GRCm39)	E476D	probably benign	Het
Pcdhb4	C	T	18: 37,442,594 (GRCm39)	P635S	probably benign	Het
Pfkfb4	T	A	9: 108,828,237 (GRCm39)	F91I	probably damaging	Het
Polq	G	A	16: 36,882,666 (GRCm39)	R1610Q	possibly damaging	Het
Polr3c	A	T	3: 96,626,614 (GRCm39)	L270H	probably damaging	Het
Ppp1r15b	C	T	1: 133,059,363 (GRCm39)		probably benign	Het
Prkca	T	G	11: 108,082,975 (GRCm39)	D90A	probably benign	Het
Sall3	T	C	18: 81,012,968 (GRCm39)	D1156G	probably benign	Het
Scn7a	A	T	2: 66,506,446 (GRCm39)	L1481H	probably damaging	Het
Selenon	A	T	4: 134,271,929 (GRCm39)	I292N	probably damaging	Het
Sema6d	T	A	2: 124,501,806 (GRCm39)		probably null	Het
Sgpp1	G	T	12: 75,762,953 (GRCm39)	Y409*	probably null	Het
Sh3pxd2a	A	G	19: 47,255,947 (GRCm39)	S924P	probably benign	Het
Slc25a13	A	G	6: 6,042,264 (GRCm39)	V638A	probably benign	Het
Snhg11	T	C	2: 158,218,746 (GRCm39)		probably benign	Het
Sorbs2	A	G	8: 46,249,389 (GRCm39)	Q800R	probably benign	Het
Srf	C	A	17: 46,860,912 (GRCm39)	G401C	probably damaging	Het
Stradb	A	C	1: 59,030,264 (GRCm39)	N173H	probably benign	Het
Swap70	C	T	7: 109,878,470 (GRCm39)	A480V	possibly damaging	Het
Sycp2	A	G	2: 178,023,750 (GRCm39)	V422A	probably damaging	Het
Taf4	G	A	2: 179,573,822 (GRCm39)	T682M	probably damaging	Het
Tet3	T	C	6: 83,381,361 (GRCm39)	N269S	possibly damaging	Het
Thap12	A	T	7: 98,366,045 (GRCm39)	I738F	possibly damaging	Het
Tiam2	C	T	17: 3,565,000 (GRCm39)	R1413C	possibly damaging	Het
Tmem229a	A	T	6: 24,955,010 (GRCm39)	F248Y	probably damaging	Het
Tmprss7	G	A	16: 45,504,956 (GRCm39)	Q145*	probably null	Het
Tnc	A	T	4: 63,911,262 (GRCm39)		probably null	Het
Tonsl	A	T	15: 76,508,797 (GRCm39)	Y21N	probably damaging	Het
Tpr	A	G	1: 150,297,414 (GRCm39)	D1009G	probably benign	Het
Trpm2	G	A	10: 77,776,992 (GRCm39)	A435V	probably damaging	Het
Ubr3	T	A	2: 69,783,820 (GRCm39)		probably null	Het
Vcan	T	C	13: 89,853,653 (GRCm39)	N436D	possibly damaging	Het
Vmn2r104	T	A	17: 20,261,031 (GRCm39)	Y464F	probably damaging	Het
Vmn2r44	T	A	7: 8,370,981 (GRCm39)	R688S	probably benign	Het
Wdr74	G	T	19: 8,715,311 (GRCm39)	V157L	probably benign	Het
Wnt7a	T	A	6: 91,371,530 (GRCm39)	D144V	probably benign	Het
Zfp106	C	T	2: 120,362,162 (GRCm39)	A986T	possibly 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
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
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'- ACCATGATTTGTTTTCAGCCTTGTG -3'
(R):5'- GGCACGATGCTATTCTCATTGTC -3'

Sequencing Primer
(F):5'- GATTTGTTTTCAGCCTTGTGATCTC -3'
(R):5'- GGCTTATGAACACATAGTATGCAG -3'

Posted On

2014-07-14