Mutagenetix > Incidental Mutation

Incidental Mutation 'R6033:Grb7'

506191

Institutional Source

Beutler Lab

Gene Symbol

Grb7

Ensembl Gene

ENSMUSG00000019312

Gene Name

growth factor receptor bound protein 7

Synonyms

MMRRC Submission

044205-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6033 (G1)

Quality Score

91.0077

Status

Validated

Chromosome

Chromosomal Location

98337660-98346199 bp(+) (GRCm39)

Type of Mutation

splice site (3780 bp from exon)

DNA Base Change (assembly)

C to T at 98346023 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000119926 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019456] [ENSMUST00000132771]

AlphaFold

Q03160

Predicted Effect

probably benign
Transcript: ENSMUST00000019456

SMART Domains

Protein: ENSMUSP00000019456
Gene: ENSMUSG00000019312

Domain	Start	End	E-Value	Type
low complexity region	19	36	N/A	INTRINSIC
RA	99	185	1.22e-17	SMART
PH	229	343	1.19e-11	SMART
Pfam:BPS	368	415	3.6e-31	PFAM
SH2	432	521	4.34e-28	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127914

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129034

Predicted Effect

probably null
Transcript: ENSMUST00000132771

SMART Domains

Protein: ENSMUSP00000119926
Gene: ENSMUSG00000019312

Domain	Start	End	E-Value	Type
low complexity region	19	36	N/A	INTRINSIC
Pfam:RA	99	138	6.9e-6	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133419

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156328

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 96.0%

Validation Efficiency

100% (55/55)

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 epidermal growth factor receptor (EGFR) and ephrin receptors. The protein plays a role in the integrin signaling pathway and cell migration by binding with focal adhesion kinase (FAK). Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2011]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl1	T	A	8: 84,645,551 (GRCm39)	V58E	probably damaging	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Alas1	A	G	9: 106,118,403 (GRCm39)	S240P	probably damaging	Het
Alox12e	C	T	11: 70,206,839 (GRCm39)	G616D	probably benign	Het
Ash1l	T	C	3: 88,892,326 (GRCm39)	Y1402H	probably damaging	Het
Ccdc150	G	T	1: 54,324,787 (GRCm39)		probably null	Het
Chct1	A	G	11: 85,069,198 (GRCm39)	E72G	probably damaging	Het
Cmtm8	T	C	9: 114,625,141 (GRCm39)	T97A	probably damaging	Het
Cnmd	T	C	14: 79,898,945 (GRCm39)	S36G	probably benign	Het
Dnah3	A	C	7: 119,670,870 (GRCm39)	N609K	probably benign	Het
Dph1	C	T	11: 75,082,023 (GRCm39)		probably benign	Het
Drosha	G	A	15: 12,926,085 (GRCm39)	A1225T	probably benign	Het
Eid3	T	A	10: 82,703,487 (GRCm39)	I316K	probably damaging	Het
Erich6	A	G	3: 58,530,622 (GRCm39)	L449S	probably benign	Het
Fhod1	T	C	8: 106,063,066 (GRCm39)		probably benign	Het
Glra1	A	G	11: 55,418,245 (GRCm39)	Y250H	probably damaging	Het
Gm21972	T	C	1: 86,064,817 (GRCm39)	Y950H	probably damaging	Het
Gm6712	T	A	17: 17,514,678 (GRCm39)		noncoding transcript	Het
Hivep1	A	G	13: 42,310,583 (GRCm39)	E941G	probably benign	Het
Homer2	A	C	7: 81,268,427 (GRCm39)	S78A	possibly damaging	Het
Ica1	T	A	6: 8,630,799 (GRCm39)		probably null	Het
Ifna12	T	C	4: 88,521,154 (GRCm39)	E131G	possibly damaging	Het
Igbp1b	T	C	6: 138,635,207 (GRCm39)	Y79C	probably damaging	Het
Incenp	C	T	19: 9,850,061 (GRCm39)	V871I	probably damaging	Het
Jaml	G	A	9: 45,000,008 (GRCm39)	G60D	probably damaging	Het
Kcp	C	T	6: 29,493,193 (GRCm39)	C110Y	probably damaging	Het
Manba	T	C	3: 135,255,022 (GRCm39)	V460A	probably benign	Het
Myrfl	A	T	10: 116,685,006 (GRCm39)	C125S	probably benign	Het
Ncan	T	C	8: 70,565,240 (GRCm39)	D229G	probably damaging	Het
Ncoa4-ps	A	G	12: 119,225,475 (GRCm39)		noncoding transcript	Het
Nlrp10	A	T	7: 108,523,784 (GRCm39)	D565E	probably benign	Het
Npas2	T	C	1: 39,377,261 (GRCm39)	V541A	probably damaging	Het
Nsg2	G	A	11: 32,005,058 (GRCm39)	V87M	possibly damaging	Het
Or5al6	A	T	2: 85,976,613 (GRCm39)	V155E	probably damaging	Het
Prkd2	C	T	7: 16,599,639 (GRCm39)	R701C	probably damaging	Het
Prr3	A	T	17: 36,289,516 (GRCm39)		probably null	Het
Prr5	A	G	15: 84,626,126 (GRCm39)	E67G	probably damaging	Het
Prss36	T	C	7: 127,533,739 (GRCm39)	R22G	probably benign	Het
Slc45a4	G	A	15: 73,453,825 (GRCm39)	A716V	probably damaging	Het
Slc46a1	T	C	11: 78,356,833 (GRCm39)		probably null	Het
Slc6a5	T	C	7: 49,609,099 (GRCm39)	I768T	probably benign	Het
Slco6c1	C	T	1: 97,009,041 (GRCm39)		probably null	Het
Taar2	A	T	10: 23,816,874 (GRCm39)	H138L	probably benign	Het
Taf2	A	C	15: 54,922,297 (GRCm39)	L330R	probably damaging	Het
Tgm5	T	C	2: 120,901,210 (GRCm39)		probably null	Het
Tmed4	A	T	11: 6,224,491 (GRCm39)	Y56*	probably null	Het
Tmem156	A	T	5: 65,232,964 (GRCm39)	F135L	probably benign	Het
Ttll6	T	C	11: 96,025,713 (GRCm39)	S65P	probably damaging	Het
Ttn	C	T	2: 76,557,171 (GRCm39)	G28199R	probably damaging	Het
Ubn2	T	A	6: 38,447,159 (GRCm39)		probably null	Het
Unc80	A	T	1: 66,512,419 (GRCm39)	T110S	possibly damaging	Het
Vmn2r72	A	T	7: 85,387,137 (GRCm39)	V809E	probably damaging	Het
Zbtb2	A	G	10: 4,318,599 (GRCm39)	F476L	probably damaging	Het
Zbtb24	T	C	10: 41,340,397 (GRCm39)	F498L	probably damaging	Het
Zfp280d	T	A	9: 72,236,419 (GRCm39)	L494Q	probably damaging	Het
Zfp281	T	C	1: 136,554,464 (GRCm39)	S481P	probably benign	Het

Other mutations in Grb7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01366:Grb7	APN	11	98,343,100 (GRCm39)	unclassified	probably benign
IGL01567:Grb7	APN	11	98,345,776 (GRCm39)	missense	probably damaging	1.00
IGL01958:Grb7	APN	11	98,345,480 (GRCm39)	missense	probably damaging	0.98
IGL03115:Grb7	APN	11	98,341,945 (GRCm39)	missense	probably damaging	1.00
PIT4458001:Grb7	UTSW	11	98,344,655 (GRCm39)	nonsense	probably null
R0455:Grb7	UTSW	11	98,343,014 (GRCm39)	missense	probably benign	0.00
R0586:Grb7	UTSW	11	98,344,046 (GRCm39)	missense	probably damaging	1.00
R0942:Grb7	UTSW	11	98,344,634 (GRCm39)	missense	probably damaging	0.97
R2960:Grb7	UTSW	11	98,343,087 (GRCm39)	missense	probably damaging	1.00
R3981:Grb7	UTSW	11	98,345,391 (GRCm39)	unclassified	probably benign
R4194:Grb7	UTSW	11	98,345,881 (GRCm39)	unclassified	probably benign
R4809:Grb7	UTSW	11	98,342,262 (GRCm39)	missense	possibly damaging	0.86
R7120:Grb7	UTSW	11	98,345,817 (GRCm39)	missense	probably benign
R9280:Grb7	UTSW	11	98,345,248 (GRCm39)	missense	probably damaging	0.99
Z1176:Grb7	UTSW	11	98,345,310 (GRCm39)	missense	probably damaging	1.00
Z1176:Grb7	UTSW	11	98,344,797 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- TACTGCAGCCATGGGTTTG -3'
(R):5'- TCTGCTGGTTCTCTGACATG -3'

Sequencing Primer
(F):5'- AGCCATGGGTTTGCCTAC -3'
(R):5'- ACATGTTCTTGCCAGACAGG -3'

Posted On

2018-03-08