Incidental Mutation 'R4238:Erbb2'
| ID |
321225 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Erbb2
|
| Ensembl Gene |
ENSMUSG00000062312 |
| Gene Name |
erb-b2 receptor tyrosine kinase 2 |
| Synonyms |
c-neu, ErbB-2, c-erbB2, HER-2, l11Jus8, Neu, Neu oncogene, HER2 |
| MMRRC Submission |
041055-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4238 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
98303310-98328542 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 98318869 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 549
(K549R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053897
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058295]
|
| AlphaFold |
P70424 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058295
AA Change: K549R
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000053897
Gene: ENSMUSG00000062312
AA Change: K549R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:Recep_L_domain
|
52 |
174 |
2e-32 |
PFAM |
|
FU
|
190 |
231 |
1.88e1 |
SMART |
|
FU
|
233 |
276 |
1.03e-6 |
SMART |
|
Pfam:Recep_L_domain
|
367 |
487 |
2.3e-23 |
PFAM |
|
FU
|
502 |
551 |
3.08e-5 |
SMART |
|
FU
|
558 |
607 |
3.97e-8 |
SMART |
|
transmembrane domain
|
654 |
676 |
N/A |
INTRINSIC |
|
TyrKc
|
721 |
977 |
1.28e-126 |
SMART |
|
low complexity region
|
1040 |
1080 |
N/A |
INTRINSIC |
|
low complexity region
|
1148 |
1163 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136032
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138066
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000158598
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 96.0%
|
| Validation Efficiency |
100% (42/42) |
| 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 (EGF) receptor family of receptor tyrosine kinases. This protein has no ligand binding domain of its own and therefore cannot bind growth factors. However, it does bind tightly to other ligand-bound EGF receptor family members to form a heterodimer, stabilizing ligand binding and enhancing kinase-mediated activation of downstream signalling pathways, such as those involving mitogen-activated protein kinase and phosphatidylinositol-3 kinase. Allelic variations at amino acid positions 654 and 655 of isoform a (positions 624 and 625 of isoform b) have been reported, with the most common allele, Ile654/Ile655, shown here. Amplification and/or overexpression of this gene has been reported in numerous cancers, including breast and ovarian tumors. Alternative splicing results in several additional transcript variants, some encoding different isoforms and others that have not been fully characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit degeneration of motor nerves, an absence of Schwann cells, impairment of junctional folds at the neuromuscular synapse, and cardiac defects that results in lethality by embryonic day 10.5. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833420G17Rik |
C |
T |
13: 119,603,478 (GRCm39) |
P93S |
probably benign |
Het |
| 4930563M21Rik |
T |
C |
9: 55,888,126 (GRCm39) |
D397G |
probably benign |
Het |
| Aar2 |
A |
G |
2: 156,393,064 (GRCm39) |
E151G |
possibly damaging |
Het |
| Cacna2d4 |
A |
G |
6: 119,217,669 (GRCm39) |
D125G |
probably null |
Het |
| Cdc20 |
C |
T |
4: 118,290,257 (GRCm39) |
R468Q |
probably damaging |
Het |
| Cers3 |
T |
C |
7: 66,423,424 (GRCm39) |
F87S |
probably damaging |
Het |
| Cfap74 |
C |
A |
4: 155,547,529 (GRCm39) |
H1238Q |
probably benign |
Het |
| Cndp1 |
G |
T |
18: 84,636,342 (GRCm39) |
H391N |
probably benign |
Het |
| Cpz |
T |
C |
5: 35,659,818 (GRCm39) |
D609G |
probably benign |
Het |
| Dpp8 |
A |
G |
9: 64,962,205 (GRCm39) |
D415G |
probably benign |
Het |
| Fam186a |
T |
C |
15: 99,841,523 (GRCm39) |
I1574V |
probably benign |
Het |
| Gm6871 |
G |
T |
7: 41,195,204 (GRCm39) |
T511K |
probably damaging |
Het |
| Gpr158 |
G |
T |
2: 21,373,362 (GRCm39) |
C99F |
probably damaging |
Het |
| Gtf2h1 |
C |
T |
7: 46,454,489 (GRCm39) |
A157V |
probably benign |
Het |
| Hexb |
T |
C |
13: 97,313,259 (GRCm39) |
|
probably benign |
Het |
| Ighv3-4 |
A |
T |
12: 114,217,533 (GRCm39) |
D19E |
probably benign |
Het |
| Igkv12-44 |
A |
G |
6: 69,791,868 (GRCm39) |
S32P |
probably benign |
Het |
| Klk6 |
A |
G |
7: 43,478,597 (GRCm39) |
H168R |
probably benign |
Het |
| Lin54 |
G |
A |
5: 100,623,603 (GRCm39) |
S78L |
possibly damaging |
Het |
| Lzts1 |
G |
T |
8: 69,588,579 (GRCm39) |
A459E |
possibly damaging |
Het |
| Mlf1 |
G |
A |
3: 67,291,910 (GRCm39) |
S25N |
probably benign |
Het |
| Mrgprx2 |
C |
A |
7: 48,132,738 (GRCm39) |
V27L |
probably benign |
Het |
| Myof |
T |
A |
19: 37,911,456 (GRCm39) |
R1505* |
probably null |
Het |
| Or4k15 |
T |
C |
14: 50,364,889 (GRCm39) |
V285A |
probably benign |
Het |
| Otud7a |
A |
G |
7: 63,300,702 (GRCm39) |
D47G |
probably damaging |
Het |
| Phactr1 |
T |
A |
13: 43,248,363 (GRCm39) |
N437K |
possibly damaging |
Het |
| Polq |
G |
T |
16: 36,833,543 (GRCm39) |
V79F |
probably damaging |
Het |
| Prc1 |
G |
A |
7: 79,960,964 (GRCm39) |
|
probably benign |
Het |
| Psg20 |
A |
T |
7: 18,418,434 (GRCm39) |
V111D |
probably damaging |
Het |
| Scamp3 |
G |
A |
3: 89,089,234 (GRCm39) |
|
probably null |
Het |
| Simc1 |
C |
G |
13: 54,674,073 (GRCm39) |
S807* |
probably null |
Het |
| Slc14a2 |
G |
A |
18: 78,250,283 (GRCm39) |
R62C |
probably damaging |
Het |
| Snrpa |
A |
T |
7: 26,892,293 (GRCm39) |
|
probably null |
Het |
| Sval2 |
T |
A |
6: 41,837,283 (GRCm39) |
L4H |
probably damaging |
Het |
| Tax1bp1 |
C |
T |
6: 52,743,036 (GRCm39) |
Q808* |
probably null |
Het |
| Tnfrsf11a |
T |
C |
1: 105,754,962 (GRCm39) |
Y345H |
probably damaging |
Het |
| Trpa1 |
A |
G |
1: 14,954,340 (GRCm39) |
L853P |
probably damaging |
Het |
| Trpm3 |
A |
G |
19: 22,956,002 (GRCm39) |
R1155G |
probably damaging |
Het |
| Ube4a |
T |
C |
9: 44,851,297 (GRCm39) |
E739G |
probably damaging |
Het |
| Zfp433 |
A |
C |
10: 81,556,046 (GRCm39) |
T182P |
probably damaging |
Het |
|
| Other mutations in Erbb2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00978:Erbb2
|
APN |
11 |
98,326,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01460:Erbb2
|
APN |
11 |
98,325,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01483:Erbb2
|
APN |
11 |
98,325,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01514:Erbb2
|
APN |
11 |
98,323,745 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01520:Erbb2
|
APN |
11 |
98,324,835 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL03007:Erbb2
|
APN |
11 |
98,319,819 (GRCm39) |
splice site |
probably benign |
|
|
IGL03367:Erbb2
|
APN |
11 |
98,313,701 (GRCm39) |
splice site |
probably null |
|
|
Angular
|
UTSW |
11 |
98,313,596 (GRCm39) |
missense |
probably damaging |
0.98 |
|
PIT4544001:Erbb2
|
UTSW |
11 |
98,311,865 (GRCm39) |
missense |
probably benign |
|
|
R0234:Erbb2
|
UTSW |
11 |
98,327,265 (GRCm39) |
missense |
probably benign |
0.33 |
|
R0234:Erbb2
|
UTSW |
11 |
98,327,265 (GRCm39) |
missense |
probably benign |
0.33 |
|
R0388:Erbb2
|
UTSW |
11 |
98,318,177 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0602:Erbb2
|
UTSW |
11 |
98,325,097 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1467:Erbb2
|
UTSW |
11 |
98,327,001 (GRCm39) |
nonsense |
probably null |
|
|
R1467:Erbb2
|
UTSW |
11 |
98,327,001 (GRCm39) |
nonsense |
probably null |
|
|
R1500:Erbb2
|
UTSW |
11 |
98,319,804 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1651:Erbb2
|
UTSW |
11 |
98,324,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1748:Erbb2
|
UTSW |
11 |
98,326,161 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1807:Erbb2
|
UTSW |
11 |
98,319,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1861:Erbb2
|
UTSW |
11 |
98,303,563 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1926:Erbb2
|
UTSW |
11 |
98,315,990 (GRCm39) |
missense |
probably benign |
|
|
R1998:Erbb2
|
UTSW |
11 |
98,319,779 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2051:Erbb2
|
UTSW |
11 |
98,310,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3147:Erbb2
|
UTSW |
11 |
98,324,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4022:Erbb2
|
UTSW |
11 |
98,326,123 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4239:Erbb2
|
UTSW |
11 |
98,318,869 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4240:Erbb2
|
UTSW |
11 |
98,318,869 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4633:Erbb2
|
UTSW |
11 |
98,323,814 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4725:Erbb2
|
UTSW |
11 |
98,315,970 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5093:Erbb2
|
UTSW |
11 |
98,318,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5306:Erbb2
|
UTSW |
11 |
98,319,032 (GRCm39) |
missense |
probably benign |
0.44 |
|
R5375:Erbb2
|
UTSW |
11 |
98,324,238 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5518:Erbb2
|
UTSW |
11 |
98,313,596 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5710:Erbb2
|
UTSW |
11 |
98,317,906 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5938:Erbb2
|
UTSW |
11 |
98,326,397 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6062:Erbb2
|
UTSW |
11 |
98,324,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6116:Erbb2
|
UTSW |
11 |
98,318,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6514:Erbb2
|
UTSW |
11 |
98,310,972 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6556:Erbb2
|
UTSW |
11 |
98,326,908 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6570:Erbb2
|
UTSW |
11 |
98,313,873 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6578:Erbb2
|
UTSW |
11 |
98,319,014 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7141:Erbb2
|
UTSW |
11 |
98,318,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7686:Erbb2
|
UTSW |
11 |
98,326,399 (GRCm39) |
missense |
probably benign |
|
|
R8274:Erbb2
|
UTSW |
11 |
98,324,722 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8439:Erbb2
|
UTSW |
11 |
98,319,798 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9142:Erbb2
|
UTSW |
11 |
98,312,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9287:Erbb2
|
UTSW |
11 |
98,326,107 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9489:Erbb2
|
UTSW |
11 |
98,311,746 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R9599:Erbb2
|
UTSW |
11 |
98,318,216 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9605:Erbb2
|
UTSW |
11 |
98,311,746 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R9652:Erbb2
|
UTSW |
11 |
98,326,812 (GRCm39) |
missense |
probably damaging |
0.96 |
|
X0028:Erbb2
|
UTSW |
11 |
98,325,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0062:Erbb2
|
UTSW |
11 |
98,313,946 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTAACCCTTCAGCCTGGAGC -3'
(R):5'- TCACCGATCCATAGCAGGTCTC -3'
Sequencing Primer
(F):5'- TGGAGCCATGCTTACAGC -3'
(R):5'- ATCCATAGCAGGTCTCCGAGC -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation