Incidental Mutation 'R4881:Erbb3'
| ID |
375289 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Erbb3
|
| Ensembl Gene |
ENSMUSG00000018166 |
| Gene Name |
erb-b2 receptor tyrosine kinase 3 |
| Synonyms |
Erbb3r, Erbb-3, HER3 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4881 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
128403392-128425504 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 128412816 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 591
(H591Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080716
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000082059]
|
| AlphaFold |
Q61526 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000082059
AA Change: H591Q
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000080716
Gene: ENSMUSG00000018166
AA Change: H591Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:Recep_L_domain
|
55 |
167 |
2.4e-31 |
PFAM |
|
FU
|
180 |
220 |
5.83e0 |
SMART |
|
FU
|
223 |
265 |
7.63e-10 |
SMART |
|
Pfam:Recep_L_domain
|
353 |
474 |
7.5e-33 |
PFAM |
|
FU
|
490 |
541 |
7.82e-7 |
SMART |
|
FU
|
546 |
595 |
1.34e-5 |
SMART |
|
FU
|
607 |
643 |
9.24e0 |
SMART |
|
TyrKc
|
707 |
963 |
7.42e-91 |
SMART |
|
low complexity region
|
997 |
1018 |
N/A |
INTRINSIC |
|
low complexity region
|
1113 |
1124 |
N/A |
INTRINSIC |
|
low complexity region
|
1135 |
1148 |
N/A |
INTRINSIC |
|
low complexity region
|
1172 |
1185 |
N/A |
INTRINSIC |
|
low complexity region
|
1186 |
1196 |
N/A |
INTRINSIC |
|
low complexity region
|
1201 |
1213 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1331 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
100% (57/57) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the epidermal growth factor receptor (EGFR) family of receptor tyrosine kinases. This membrane-bound protein has a neuregulin binding domain but not an active kinase domain. It therefore can bind this ligand but not convey the signal into the cell through protein phosphorylation. However, it does form heterodimers with other EGF receptor family members which do have kinase activity. Heterodimerization leads to the activation of pathways which lead to cell proliferation or differentiation. Amplification of this gene and/or overexpression of its protein have been reported in numerous cancers, including prostate, bladder, and breast tumors. Alternate transcriptional splice variants encoding different isoforms have been characterized. One isoform lacks the intermembrane region and is secreted outside the cell. This form acts to modulate the activity of the membrane-bound form. Additional splice variants have also been reported, but they have not been thoroughly characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit a lack of Schwann-cell precursors leading to loss of sensory and motor neurons, hypoplasia of the primary sympathetic ganglion chain, cardiac defects, impaired brain development, and embryonic lethality. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(27) : Targeted(11) Gene trapped(14) Chemically induced(2)
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
T |
C |
7: 119,877,472 (GRCm39) |
L1040P |
possibly damaging |
Het |
| Acot11 |
C |
A |
4: 106,612,502 (GRCm39) |
|
probably null |
Het |
| Aldoart2 |
C |
A |
12: 55,612,899 (GRCm39) |
Q275K |
probably damaging |
Het |
| Auts2 |
T |
C |
5: 131,501,288 (GRCm39) |
T42A |
probably damaging |
Het |
| Bora |
C |
T |
14: 99,299,003 (GRCm39) |
L187F |
probably damaging |
Het |
| Cbln4 |
A |
G |
2: 171,884,059 (GRCm39) |
S54P |
possibly damaging |
Het |
| Celsr3 |
T |
A |
9: 108,721,140 (GRCm39) |
L2661Q |
probably damaging |
Het |
| Cfap65 |
T |
C |
1: 74,946,772 (GRCm39) |
T1313A |
probably damaging |
Het |
| Dbndd2 |
C |
A |
2: 164,332,225 (GRCm39) |
|
probably benign |
Het |
| Dennd4a |
A |
G |
9: 64,746,126 (GRCm39) |
D4G |
possibly damaging |
Het |
| Dmxl1 |
T |
A |
18: 50,090,348 (GRCm39) |
|
probably benign |
Het |
| Dnah7b |
T |
C |
1: 46,240,478 (GRCm39) |
C1532R |
probably damaging |
Het |
| Exosc4 |
T |
C |
15: 76,213,770 (GRCm39) |
L198P |
probably damaging |
Het |
| F2r |
A |
T |
13: 95,754,837 (GRCm39) |
C16S |
possibly damaging |
Het |
| Gtf2h4 |
A |
T |
17: 35,981,125 (GRCm39) |
I234N |
possibly damaging |
Het |
| Ift27 |
A |
T |
15: 78,049,448 (GRCm39) |
V84D |
probably damaging |
Het |
| Ints10 |
C |
T |
8: 69,263,256 (GRCm39) |
A389V |
probably benign |
Het |
| Irs1 |
TGGGGTGGACATCGAACTGAAGGAG |
TG |
1: 82,265,453 (GRCm39) |
913 |
probably null |
Het |
| Klrc2 |
T |
A |
6: 129,637,471 (GRCm39) |
T17S |
possibly damaging |
Het |
| Matr3 |
T |
A |
18: 35,705,428 (GRCm39) |
S118T |
probably damaging |
Het |
| Mfsd6l |
C |
T |
11: 68,448,748 (GRCm39) |
A533V |
probably benign |
Het |
| Msh3 |
A |
G |
13: 92,402,549 (GRCm39) |
|
probably benign |
Het |
| Myo5c |
A |
G |
9: 75,191,434 (GRCm39) |
M1103V |
probably benign |
Het |
| Niban2 |
C |
A |
2: 32,812,590 (GRCm39) |
Y446* |
probably null |
Het |
| Or2y1e |
T |
A |
11: 49,219,124 (GRCm39) |
D295E |
probably benign |
Het |
| Or5e1 |
T |
C |
7: 108,354,612 (GRCm39) |
L183P |
probably damaging |
Het |
| Or6z3 |
A |
T |
7: 6,463,753 (GRCm39) |
M82L |
probably benign |
Het |
| Osbpl3 |
A |
T |
6: 50,329,764 (GRCm39) |
D88E |
possibly damaging |
Het |
| Pou1f1 |
C |
T |
16: 65,328,728 (GRCm39) |
T149I |
probably damaging |
Het |
| Ppp1r12b |
G |
T |
1: 134,883,471 (GRCm39) |
A17E |
probably benign |
Het |
| Pstpip2 |
T |
A |
18: 77,962,032 (GRCm39) |
Y267* |
probably null |
Het |
| Rcor1 |
A |
G |
12: 111,063,986 (GRCm39) |
D95G |
probably damaging |
Het |
| Rttn |
T |
C |
18: 89,119,809 (GRCm39) |
L1748P |
probably damaging |
Het |
| Slco2a1 |
A |
G |
9: 102,963,031 (GRCm39) |
K629E |
possibly damaging |
Het |
| Smarcc1 |
A |
G |
9: 109,964,696 (GRCm39) |
|
probably benign |
Het |
| Son |
A |
G |
16: 91,472,397 (GRCm39) |
K360E |
probably benign |
Het |
| Stab1 |
A |
T |
14: 30,865,629 (GRCm39) |
M1753K |
probably benign |
Het |
| Syne2 |
A |
G |
12: 76,026,593 (GRCm39) |
I3474V |
probably damaging |
Het |
| Tmem63c |
A |
T |
12: 87,133,192 (GRCm39) |
T736S |
possibly damaging |
Het |
| Tmpo |
G |
A |
10: 90,998,503 (GRCm39) |
P428L |
possibly damaging |
Het |
| Tmprss11a |
G |
T |
5: 86,570,432 (GRCm39) |
Q176K |
probably damaging |
Het |
| Trappc4 |
A |
G |
9: 44,315,322 (GRCm39) |
S219P |
probably damaging |
Het |
| Vmn2r117 |
G |
T |
17: 23,696,859 (GRCm39) |
P183T |
probably damaging |
Het |
| Vmn2r54 |
C |
T |
7: 12,363,598 (GRCm39) |
V432I |
probably benign |
Het |
| Vtcn1 |
G |
A |
3: 100,799,909 (GRCm39) |
G257R |
probably benign |
Het |
| Yipf1 |
T |
A |
4: 107,202,288 (GRCm39) |
M217K |
possibly damaging |
Het |
| Zfc3h1 |
T |
C |
10: 115,236,647 (GRCm39) |
S374P |
probably benign |
Het |
| Zfp407 |
T |
C |
18: 84,577,828 (GRCm39) |
H1095R |
probably benign |
Het |
| Zfp661 |
A |
T |
2: 127,420,564 (GRCm39) |
H78Q |
probably benign |
Het |
| Zfp957 |
T |
C |
14: 79,450,849 (GRCm39) |
T317A |
unknown |
Het |
| Zfyve9 |
T |
A |
4: 108,584,688 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Erbb3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00659:Erbb3
|
APN |
10 |
128,406,852 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01482:Erbb3
|
APN |
10 |
128,408,798 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL01866:Erbb3
|
APN |
10 |
128,405,237 (GRCm39) |
makesense |
probably null |
|
|
IGL01981:Erbb3
|
APN |
10 |
128,407,519 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL02190:Erbb3
|
APN |
10 |
128,406,879 (GRCm39) |
splice site |
probably null |
|
|
IGL02329:Erbb3
|
APN |
10 |
128,409,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02400:Erbb3
|
APN |
10 |
128,415,393 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02478:Erbb3
|
APN |
10 |
128,407,227 (GRCm39) |
nonsense |
probably null |
|
|
IGL02502:Erbb3
|
APN |
10 |
128,406,153 (GRCm39) |
missense |
probably benign |
|
|
IGL02539:Erbb3
|
APN |
10 |
128,420,174 (GRCm39) |
splice site |
probably null |
|
|
IGL03187:Erbb3
|
APN |
10 |
128,408,463 (GRCm39) |
splice site |
probably benign |
|
|
I1329:Erbb3
|
UTSW |
10 |
128,419,323 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
PIT4812001:Erbb3
|
UTSW |
10 |
128,410,248 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R0006:Erbb3
|
UTSW |
10 |
128,409,279 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0006:Erbb3
|
UTSW |
10 |
128,409,279 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0078:Erbb3
|
UTSW |
10 |
128,419,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0366:Erbb3
|
UTSW |
10 |
128,408,439 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R0601:Erbb3
|
UTSW |
10 |
128,412,881 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0621:Erbb3
|
UTSW |
10 |
128,422,094 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1222:Erbb3
|
UTSW |
10 |
128,407,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1675:Erbb3
|
UTSW |
10 |
128,407,073 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1676:Erbb3
|
UTSW |
10 |
128,419,117 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1692:Erbb3
|
UTSW |
10 |
128,407,594 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1875:Erbb3
|
UTSW |
10 |
128,410,335 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R2002:Erbb3
|
UTSW |
10 |
128,422,094 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2219:Erbb3
|
UTSW |
10 |
128,405,740 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2328:Erbb3
|
UTSW |
10 |
128,419,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3840:Erbb3
|
UTSW |
10 |
128,406,193 (GRCm39) |
missense |
probably benign |
|
|
R4393:Erbb3
|
UTSW |
10 |
128,408,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4567:Erbb3
|
UTSW |
10 |
128,414,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4616:Erbb3
|
UTSW |
10 |
128,408,639 (GRCm39) |
nonsense |
probably null |
|
|
R4766:Erbb3
|
UTSW |
10 |
128,422,107 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R4974:Erbb3
|
UTSW |
10 |
128,408,317 (GRCm39) |
missense |
probably benign |
|
|
R5266:Erbb3
|
UTSW |
10 |
128,405,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5463:Erbb3
|
UTSW |
10 |
128,405,948 (GRCm39) |
nonsense |
probably null |
|
|
R5481:Erbb3
|
UTSW |
10 |
128,408,349 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5997:Erbb3
|
UTSW |
10 |
128,419,054 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6370:Erbb3
|
UTSW |
10 |
128,405,943 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7639:Erbb3
|
UTSW |
10 |
128,405,716 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7713:Erbb3
|
UTSW |
10 |
128,410,318 (GRCm39) |
missense |
probably benign |
|
|
R7847:Erbb3
|
UTSW |
10 |
128,407,058 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8529:Erbb3
|
UTSW |
10 |
128,419,069 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8843:Erbb3
|
UTSW |
10 |
128,414,325 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8988:Erbb3
|
UTSW |
10 |
128,406,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9336:Erbb3
|
UTSW |
10 |
128,420,929 (GRCm39) |
missense |
probably benign |
0.15 |
|
R9530:Erbb3
|
UTSW |
10 |
128,410,291 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTCCTTTAGAGCTGGACCTG -3'
(R):5'- GCCCAGAGAAGTCAGATAGC -3'
Sequencing Primer
(F):5'- GGACCTGAGTCTTAAGTTGTCAACC -3'
(R):5'- AAGTCAGATAGCCCTGGAGTTTGTAC -3'
|
| Posted On |
2016-03-17 |
Incidental Mutation