Incidental Mutation 'R8281:Ern2'
| ID |
638201 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ern2
|
| Ensembl Gene |
ENSMUSG00000030866 |
| Gene Name |
endoplasmic reticulum to nucleus signalling 2 |
| Synonyms |
Ire1b |
| MMRRC Submission |
067704-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.101)
|
| Stock # |
R8281 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
121769116-121785430 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 121769483 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 848
(R848G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033153
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033153]
[ENSMUST00000033154]
[ENSMUST00000206198]
|
| AlphaFold |
Q9Z2E3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033153
AA Change: R848G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000033153
Gene: ENSMUSG00000030866
AA Change: R848G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
28 |
N/A |
INTRINSIC |
|
PQQ
|
33 |
64 |
5.5e-8 |
SMART |
|
PQQ
|
115 |
147 |
4.7e-4 |
SMART |
|
PQQ
|
148 |
180 |
6.1e-2 |
SMART |
|
PQQ
|
192 |
223 |
6.2e-3 |
SMART |
|
low complexity region
|
449 |
461 |
N/A |
INTRINSIC |
|
S_TKc
|
508 |
768 |
2.5e-11 |
SMART |
|
PUG
|
831 |
888 |
9e-24 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033154
|
| SMART Domains |
Protein: ENSMUSP00000033154
Gene: ENSMUSG00000030867
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
15 |
N/A |
INTRINSIC |
|
low complexity region
|
20 |
35 |
N/A |
INTRINSIC |
|
S_TKc
|
53 |
305 |
7.36e-95 |
SMART |
|
low complexity region
|
354 |
365 |
N/A |
INTRINSIC |
|
Pfam:POLO_box
|
418 |
479 |
4.4e-24 |
PFAM |
|
Pfam:POLO_box
|
516 |
583 |
3.1e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206198
|
| Meta Mutation Damage Score |
0.6110 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
98% (44/45) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for disruption of this gene are generally normal but display an increased susceptibility to intestinal inflammation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam7 |
G |
A |
14: 68,745,334 (GRCm39) |
T630I |
possibly damaging |
Het |
| Adgrf3 |
T |
C |
5: 30,402,301 (GRCm39) |
S576G |
possibly damaging |
Het |
| Asxl1 |
A |
G |
2: 153,241,321 (GRCm39) |
R625G |
probably damaging |
Het |
| Atp1a1 |
A |
G |
3: 101,486,940 (GRCm39) |
F916L |
probably benign |
Het |
| Axl |
C |
T |
7: 25,463,379 (GRCm39) |
D633N |
probably benign |
Het |
| Ccdc168 |
T |
G |
1: 44,095,698 (GRCm39) |
D1800A |
possibly damaging |
Het |
| Chd9 |
A |
G |
8: 91,763,225 (GRCm39) |
D2350G |
probably damaging |
Het |
| Cic |
G |
A |
7: 24,971,249 (GRCm39) |
V327I |
probably benign |
Het |
| Crym |
T |
A |
7: 119,801,250 (GRCm39) |
|
probably benign |
Het |
| Cyp3a13 |
G |
C |
5: 137,892,559 (GRCm39) |
S495C |
probably benign |
Het |
| D5Ertd579e |
A |
T |
5: 36,770,664 (GRCm39) |
F137I |
|
Het |
| Dip2a |
T |
C |
10: 76,112,438 (GRCm39) |
T1087A |
probably damaging |
Het |
| Drc7 |
G |
A |
8: 95,788,805 (GRCm39) |
E288K |
possibly damaging |
Het |
| Epb41l4a |
T |
C |
18: 34,011,998 (GRCm39) |
E174G |
probably damaging |
Het |
| F13b |
G |
T |
1: 139,438,689 (GRCm39) |
R364S |
probably benign |
Het |
| F2rl1 |
A |
G |
13: 95,650,585 (GRCm39) |
L99P |
probably damaging |
Het |
| Fam193a |
C |
A |
5: 34,600,780 (GRCm39) |
N171K |
unknown |
Het |
| Fst |
A |
G |
13: 114,591,777 (GRCm39) |
S201P |
probably benign |
Het |
| Gm10110 |
C |
T |
14: 90,135,677 (GRCm39) |
V76M |
noncoding transcript |
Het |
| Gm8232 |
A |
G |
14: 44,674,548 (GRCm39) |
I182V |
|
Het |
| Iqca1l |
T |
A |
5: 24,754,008 (GRCm39) |
H417L |
probably benign |
Het |
| Kalrn |
C |
T |
16: 33,855,431 (GRCm39) |
W1956* |
probably null |
Het |
| Klk1b16 |
A |
G |
7: 43,790,971 (GRCm39) |
M258V |
probably benign |
Het |
| Lta4h |
G |
T |
10: 93,289,456 (GRCm39) |
D29Y |
probably damaging |
Het |
| Marchf7 |
C |
T |
2: 60,064,873 (GRCm39) |
S383L |
probably benign |
Het |
| Mob3c |
T |
C |
4: 115,688,635 (GRCm39) |
I56T |
probably benign |
Het |
| Msl2 |
T |
C |
9: 100,978,894 (GRCm39) |
S423P |
probably benign |
Het |
| Otop3 |
T |
C |
11: 115,235,901 (GRCm39) |
I511T |
possibly damaging |
Het |
| Pbld2 |
T |
G |
10: 62,883,805 (GRCm39) |
L90R |
probably damaging |
Het |
| Pcdh8 |
A |
G |
14: 80,006,919 (GRCm39) |
V548A |
probably damaging |
Het |
| Peg10 |
CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC |
CATC |
6: 4,756,431 (GRCm39) |
|
probably benign |
Het |
| Plch2 |
T |
A |
4: 155,091,430 (GRCm39) |
M228L |
probably benign |
Het |
| Prkdc |
T |
C |
16: 15,523,117 (GRCm39) |
C1180R |
probably damaging |
Het |
| Rasl2-9 |
A |
T |
7: 5,128,351 (GRCm39) |
L193* |
probably null |
Het |
| Rbp3 |
A |
G |
14: 33,678,320 (GRCm39) |
K756R |
probably benign |
Het |
| Rp1 |
T |
C |
1: 4,418,139 (GRCm39) |
E991G |
probably damaging |
Het |
| Slc12a7 |
G |
A |
13: 73,938,796 (GRCm39) |
R191H |
probably damaging |
Het |
| Spaca6 |
A |
G |
17: 18,052,321 (GRCm39) |
N87S |
possibly damaging |
Het |
| Spata31e5 |
C |
T |
1: 28,817,225 (GRCm39) |
C269Y |
possibly damaging |
Het |
| Speer1h |
T |
A |
5: 11,647,646 (GRCm39) |
M128K |
probably damaging |
Het |
| Stab2 |
A |
T |
10: 86,709,728 (GRCm39) |
V1639E |
probably damaging |
Het |
| Thpo |
T |
C |
16: 20,544,525 (GRCm39) |
N235S |
possibly damaging |
Het |
| Tmem63b |
T |
A |
17: 45,971,722 (GRCm39) |
H831L |
probably benign |
Het |
| Tomm20l |
T |
C |
12: 71,158,241 (GRCm39) |
V8A |
probably benign |
Het |
| Trav13-5 |
A |
G |
14: 54,032,918 (GRCm39) |
R3G |
possibly damaging |
Het |
| Vill |
T |
C |
9: 118,887,547 (GRCm39) |
S104P |
probably damaging |
Het |
|
| Other mutations in Ern2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01060:Ern2
|
APN |
7 |
121,769,315 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01324:Ern2
|
APN |
7 |
121,782,413 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL02185:Ern2
|
APN |
7 |
121,772,598 (GRCm39) |
splice site |
probably benign |
|
|
IGL02738:Ern2
|
APN |
7 |
121,782,122 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02750:Ern2
|
APN |
7 |
121,780,629 (GRCm39) |
splice site |
probably benign |
|
|
IGL03247:Ern2
|
APN |
7 |
121,770,894 (GRCm39) |
missense |
probably benign |
0.02 |
|
ernie
|
UTSW |
7 |
121,770,884 (GRCm39) |
critical splice donor site |
probably null |
|
|
Ernie2
|
UTSW |
7 |
121,780,085 (GRCm39) |
splice site |
probably benign |
|
|
ernie3
|
UTSW |
7 |
121,773,042 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0165:Ern2
|
UTSW |
7 |
121,779,002 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0785:Ern2
|
UTSW |
7 |
121,770,884 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0801:Ern2
|
UTSW |
7 |
121,780,085 (GRCm39) |
splice site |
probably benign |
|
|
R1345:Ern2
|
UTSW |
7 |
121,776,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1649:Ern2
|
UTSW |
7 |
121,776,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1747:Ern2
|
UTSW |
7 |
121,773,043 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1747:Ern2
|
UTSW |
7 |
121,773,042 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1846:Ern2
|
UTSW |
7 |
121,775,759 (GRCm39) |
missense |
probably benign |
0.32 |
|
R1899:Ern2
|
UTSW |
7 |
121,783,065 (GRCm39) |
splice site |
probably benign |
|
|
R1986:Ern2
|
UTSW |
7 |
121,770,752 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2055:Ern2
|
UTSW |
7 |
121,783,168 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R2329:Ern2
|
UTSW |
7 |
121,772,710 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R2351:Ern2
|
UTSW |
7 |
121,770,731 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2894:Ern2
|
UTSW |
7 |
121,780,810 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3176:Ern2
|
UTSW |
7 |
121,780,187 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R3276:Ern2
|
UTSW |
7 |
121,780,187 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R3945:Ern2
|
UTSW |
7 |
121,775,753 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4303:Ern2
|
UTSW |
7 |
121,777,069 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4874:Ern2
|
UTSW |
7 |
121,775,810 (GRCm39) |
missense |
probably benign |
0.28 |
|
R4943:Ern2
|
UTSW |
7 |
121,772,481 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5184:Ern2
|
UTSW |
7 |
121,779,182 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5629:Ern2
|
UTSW |
7 |
121,769,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5770:Ern2
|
UTSW |
7 |
121,779,130 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6255:Ern2
|
UTSW |
7 |
121,772,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6272:Ern2
|
UTSW |
7 |
121,775,869 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6277:Ern2
|
UTSW |
7 |
121,785,330 (GRCm39) |
missense |
probably benign |
|
|
R6624:Ern2
|
UTSW |
7 |
121,777,006 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6940:Ern2
|
UTSW |
7 |
121,785,369 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7491:Ern2
|
UTSW |
7 |
121,769,756 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7544:Ern2
|
UTSW |
7 |
121,772,422 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7555:Ern2
|
UTSW |
7 |
121,769,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7843:Ern2
|
UTSW |
7 |
121,772,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8321:Ern2
|
UTSW |
7 |
121,772,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8377:Ern2
|
UTSW |
7 |
121,780,515 (GRCm39) |
nonsense |
probably null |
|
|
R8548:Ern2
|
UTSW |
7 |
121,777,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8853:Ern2
|
UTSW |
7 |
121,772,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8929:Ern2
|
UTSW |
7 |
121,769,363 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8931:Ern2
|
UTSW |
7 |
121,769,363 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9088:Ern2
|
UTSW |
7 |
121,772,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9511:Ern2
|
UTSW |
7 |
121,776,823 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9789:Ern2
|
UTSW |
7 |
121,769,485 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGGCTCAACTCCTTGGTC -3'
(R):5'- GCCTGCAGATCTGAAAAGGTTCC -3'
Sequencing Primer
(F):5'- TGGACCCTCTGGATGTCTCAG -3'
(R):5'- GATCTGAAAAGGTTCCGCTCATAC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation