Incidental Mutation 'R0419:Grb10'
| ID |
36938 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Grb10
|
| Ensembl Gene |
ENSMUSG00000020176 |
| Gene Name |
growth factor receptor bound protein 10 |
| Synonyms |
5730571D09Rik, Meg1, maternally expressed gene 1 |
| MMRRC Submission |
038621-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.270)
|
| Stock # |
R0419 (G1)
|
| Quality Score |
161 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
11880499-11987428 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 11884207 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 500
(I500V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105280
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093321]
[ENSMUST00000109653]
[ENSMUST00000109654]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000093321
AA Change: I546V
PolyPhen 2
Score 0.703 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000091011
Gene: ENSMUSG00000020176
AA Change: I546V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
92 |
119 |
N/A |
INTRINSIC |
|
RA
|
169 |
253 |
2.56e-20 |
SMART |
|
PH
|
294 |
404 |
7.13e-10 |
SMART |
|
Pfam:BPS
|
427 |
473 |
6.4e-31 |
PFAM |
|
SH2
|
493 |
582 |
7.78e-30 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109653
AA Change: I500V
PolyPhen 2
Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000105280
Gene: ENSMUSG00000020176
AA Change: I500V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
92 |
119 |
N/A |
INTRINSIC |
|
RA
|
169 |
253 |
2.56e-20 |
SMART |
|
Blast:PH
|
285 |
358 |
1e-44 |
BLAST |
|
Pfam:BPS
|
381 |
428 |
3.5e-33 |
PFAM |
|
SH2
|
447 |
536 |
7.78e-30 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109654
AA Change: I491V
PolyPhen 2
Score 0.832 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000105281
Gene: ENSMUSG00000020176
AA Change: I491V
| Domain | Start | End | E-Value | Type |
|---|
|
RA
|
114 |
198 |
5.45e-24 |
SMART |
|
PH
|
239 |
349 |
7.13e-10 |
SMART |
|
Pfam:BPS
|
372 |
419 |
5.4e-33 |
PFAM |
|
SH2
|
438 |
527 |
7.78e-30 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124587
|
| Meta Mutation Damage Score |
0.3528 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.8%
|
| Validation Efficiency |
98% (54/55) |
| 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 insulin receptors and insulin-like growth-factor receptors. Overexpression of some isoforms of the encoded protein inhibits tyrosine kinase activity and results in growth suppression. This gene is imprinted in a highly isoform- and tissue-specific manner, with expression observed from the paternal allele in the brain, and from the maternal allele in the placental trophoblasts. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2010]
PHENOTYPE: Maternal transmission of a mutant allele results in both fetal and placental overgrowth. Disproportionate overgrowth of the liver is observed. Paternal transmission of an allele lacking the differentially methylated region results in growth retardation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700029H14Rik |
T |
C |
8: 13,601,842 (GRCm39) |
|
probably benign |
Het |
| 5730507C01Rik |
A |
T |
12: 18,583,424 (GRCm39) |
R161S |
possibly damaging |
Het |
| Adamts5 |
T |
C |
16: 85,663,530 (GRCm39) |
I735V |
probably benign |
Het |
| Arid1a |
G |
T |
4: 133,408,435 (GRCm39) |
P2024Q |
unknown |
Het |
| Ascc3 |
G |
T |
10: 50,625,022 (GRCm39) |
V1637L |
probably benign |
Het |
| B3galt4 |
T |
C |
17: 34,169,764 (GRCm39) |
Y158C |
probably damaging |
Het |
| BC049715 |
A |
G |
6: 136,817,143 (GRCm39) |
T128A |
possibly damaging |
Het |
| Btaf1 |
T |
A |
19: 36,922,629 (GRCm39) |
I11N |
probably damaging |
Het |
| Cfb |
T |
C |
17: 35,077,485 (GRCm39) |
I496V |
probably damaging |
Het |
| Chd8 |
A |
T |
14: 52,441,517 (GRCm39) |
H858Q |
probably benign |
Het |
| Chrne |
T |
C |
11: 70,506,549 (GRCm39) |
I324V |
probably benign |
Het |
| Clec14a |
T |
C |
12: 58,314,451 (GRCm39) |
I390M |
probably damaging |
Het |
| Cpsf3 |
A |
G |
12: 21,347,800 (GRCm39) |
Y207C |
probably damaging |
Het |
| Cubn |
A |
C |
2: 13,474,574 (GRCm39) |
I410S |
possibly damaging |
Het |
| Cubn |
T |
A |
2: 13,474,575 (GRCm39) |
I410F |
possibly damaging |
Het |
| Dlc1 |
T |
C |
8: 37,050,740 (GRCm39) |
E997G |
possibly damaging |
Het |
| Emilin1 |
G |
T |
5: 31,072,366 (GRCm39) |
V71F |
probably damaging |
Het |
| Esrp2 |
T |
C |
8: 106,861,307 (GRCm39) |
E164G |
probably damaging |
Het |
| Fars2 |
A |
G |
13: 36,721,285 (GRCm39) |
T410A |
probably benign |
Het |
| Fat3 |
A |
G |
9: 15,903,552 (GRCm39) |
V2981A |
probably damaging |
Het |
| Fkbp15 |
G |
A |
4: 62,244,373 (GRCm39) |
T472I |
probably benign |
Het |
| Gm6871 |
A |
G |
7: 41,222,869 (GRCm39) |
V73A |
probably benign |
Het |
| Gnl2 |
T |
G |
4: 124,947,320 (GRCm39) |
S647R |
probably benign |
Het |
| Herc1 |
T |
C |
9: 66,353,356 (GRCm39) |
|
probably benign |
Het |
| Iqgap2 |
A |
C |
13: 95,826,207 (GRCm39) |
|
probably null |
Het |
| Kcnu1 |
A |
T |
8: 26,427,646 (GRCm39) |
N321I |
probably benign |
Het |
| Kif23 |
G |
A |
9: 61,833,687 (GRCm39) |
R519* |
probably null |
Het |
| Klhl1 |
C |
T |
14: 96,619,225 (GRCm39) |
R224Q |
probably benign |
Het |
| Lama1 |
T |
C |
17: 68,098,605 (GRCm39) |
|
probably null |
Het |
| Lamp3 |
T |
C |
16: 19,492,302 (GRCm39) |
Y314C |
probably damaging |
Het |
| Lamtor5 |
C |
A |
3: 107,189,227 (GRCm39) |
R88S |
probably damaging |
Het |
| Nbea |
G |
T |
3: 55,726,715 (GRCm39) |
A2088E |
probably benign |
Het |
| Neo1 |
A |
G |
9: 58,897,463 (GRCm39) |
|
probably benign |
Het |
| Ntn4 |
A |
T |
10: 93,518,291 (GRCm39) |
R199S |
probably benign |
Het |
| Or5ap2 |
A |
T |
2: 85,680,311 (GRCm39) |
R172* |
probably null |
Het |
| Plekho2 |
A |
G |
9: 65,464,334 (GRCm39) |
S172P |
possibly damaging |
Het |
| Pmp2 |
T |
C |
3: 10,245,823 (GRCm39) |
Y129C |
probably damaging |
Het |
| Prss3b |
T |
C |
6: 41,011,281 (GRCm39) |
N34D |
probably benign |
Het |
| Ralgapa2 |
A |
T |
2: 146,270,592 (GRCm39) |
M578K |
possibly damaging |
Het |
| Ranbp3 |
C |
T |
17: 57,015,219 (GRCm39) |
T307M |
possibly damaging |
Het |
| Serpinb11 |
G |
A |
1: 107,304,590 (GRCm39) |
W185* |
probably null |
Het |
| Setdb2 |
A |
T |
14: 59,644,193 (GRCm39) |
|
probably null |
Het |
| Sirpb1b |
A |
T |
3: 15,613,656 (GRCm39) |
V75E |
probably damaging |
Het |
| Slc13a1 |
A |
T |
6: 24,100,292 (GRCm39) |
L397Q |
probably damaging |
Het |
| Slc19a1 |
T |
A |
10: 76,878,742 (GRCm39) |
I355N |
probably damaging |
Het |
| Slc51a |
T |
A |
16: 32,295,254 (GRCm39) |
I275F |
possibly damaging |
Het |
| Spink14 |
T |
C |
18: 44,164,934 (GRCm39) |
S84P |
probably damaging |
Het |
| Stx2 |
A |
G |
5: 129,070,641 (GRCm39) |
|
probably benign |
Het |
| Tgfbi |
G |
T |
13: 56,780,006 (GRCm39) |
|
probably benign |
Het |
| Tshr |
T |
A |
12: 91,504,643 (GRCm39) |
M527K |
probably damaging |
Het |
| Upb1 |
T |
C |
10: 75,248,717 (GRCm39) |
V79A |
probably damaging |
Het |
| Zdhhc5 |
A |
T |
2: 84,521,587 (GRCm39) |
|
probably null |
Het |
| Zfp11 |
C |
T |
5: 129,735,302 (GRCm39) |
G53E |
possibly damaging |
Het |
| Zfp280d |
T |
C |
9: 72,219,519 (GRCm39) |
V32A |
probably benign |
Het |
|
| Other mutations in Grb10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01367:Grb10
|
APN |
11 |
11,895,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01450:Grb10
|
APN |
11 |
11,920,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01872:Grb10
|
APN |
11 |
11,920,547 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02164:Grb10
|
APN |
11 |
11,893,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02508:Grb10
|
APN |
11 |
11,896,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02626:Grb10
|
APN |
11 |
11,895,503 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03275:Grb10
|
APN |
11 |
11,883,591 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
virginia
|
UTSW |
11 |
11,883,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0042:Grb10
|
UTSW |
11 |
11,886,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0042:Grb10
|
UTSW |
11 |
11,886,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0089:Grb10
|
UTSW |
11 |
11,884,192 (GRCm39) |
splice site |
probably benign |
|
|
R0196:Grb10
|
UTSW |
11 |
11,895,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0645:Grb10
|
UTSW |
11 |
11,886,755 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1473:Grb10
|
UTSW |
11 |
11,884,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1848:Grb10
|
UTSW |
11 |
11,896,029 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R2025:Grb10
|
UTSW |
11 |
11,920,576 (GRCm39) |
nonsense |
probably null |
|
|
R4455:Grb10
|
UTSW |
11 |
11,917,665 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4857:Grb10
|
UTSW |
11 |
11,901,469 (GRCm39) |
unclassified |
probably benign |
|
|
R5289:Grb10
|
UTSW |
11 |
11,894,924 (GRCm39) |
splice site |
silent |
|
|
R5522:Grb10
|
UTSW |
11 |
11,886,746 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5696:Grb10
|
UTSW |
11 |
11,883,566 (GRCm39) |
missense |
probably benign |
0.23 |
|
R6119:Grb10
|
UTSW |
11 |
11,883,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6163:Grb10
|
UTSW |
11 |
11,893,932 (GRCm39) |
nonsense |
probably null |
|
|
R6267:Grb10
|
UTSW |
11 |
11,920,639 (GRCm39) |
start gained |
probably benign |
|
|
R6328:Grb10
|
UTSW |
11 |
11,887,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6741:Grb10
|
UTSW |
11 |
11,886,717 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7610:Grb10
|
UTSW |
11 |
11,893,955 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7641:Grb10
|
UTSW |
11 |
11,883,492 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8209:Grb10
|
UTSW |
11 |
11,901,533 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8226:Grb10
|
UTSW |
11 |
11,901,533 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8916:Grb10
|
UTSW |
11 |
11,901,599 (GRCm39) |
missense |
probably benign |
0.28 |
|
R9546:Grb10
|
UTSW |
11 |
11,893,919 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9547:Grb10
|
UTSW |
11 |
11,893,919 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9559:Grb10
|
UTSW |
11 |
11,895,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Grb10
|
UTSW |
11 |
11,894,845 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCAGCAACATTCCCTCTTGGAGTC -3'
(R):5'- GGTACTAGCACTCATGTGCCAGAAC -3'
Sequencing Primer
(F):5'- AACATTCCCTCTTGGAGTCTCTTG -3'
(R):5'- AGTATCATGGCTGCAAGCCC -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation