Incidental Mutation 'R5184:Ern2'
| ID |
397758 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ern2
|
| Ensembl Gene |
ENSMUSG00000030866 |
| Gene Name |
endoplasmic reticulum to nucleus signalling 2 |
| Synonyms |
Ire1b |
| MMRRC Submission |
042763-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.125)
|
| Stock # |
R5184 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
121769116-121785430 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 121779182 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 221
(T221A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033153
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033153]
[ENSMUST00000206198]
|
| AlphaFold |
Q9Z2E3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033153
AA Change: T221A
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000033153
Gene: ENSMUSG00000030866
AA Change: T221A
| 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: ENSMUST00000206198
AA Change: T221A
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| Meta Mutation Damage Score |
0.2692 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
98% (63/64) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aph1a |
T |
A |
3: 95,803,051 (GRCm39) |
|
probably null |
Het |
| Arid3a |
A |
G |
10: 79,786,603 (GRCm39) |
E452G |
possibly damaging |
Het |
| Barhl2 |
A |
G |
5: 106,605,506 (GRCm39) |
S68P |
unknown |
Het |
| Carf |
T |
C |
1: 60,147,333 (GRCm39) |
S17P |
probably damaging |
Het |
| Ccdc90b |
A |
G |
7: 92,224,019 (GRCm39) |
D145G |
probably damaging |
Het |
| Cyp7a1 |
A |
T |
4: 6,271,207 (GRCm39) |
N316K |
probably benign |
Het |
| Daam2 |
A |
G |
17: 49,801,419 (GRCm39) |
I106T |
possibly damaging |
Het |
| Dmtf1 |
A |
G |
5: 9,176,641 (GRCm39) |
V437A |
probably benign |
Het |
| E2f2 |
A |
T |
4: 135,911,751 (GRCm39) |
Y254F |
possibly damaging |
Het |
| Ehmt1 |
G |
T |
2: 24,767,509 (GRCm39) |
P135T |
probably damaging |
Het |
| Fam227b |
G |
A |
2: 125,958,043 (GRCm39) |
P241S |
probably damaging |
Het |
| Fermt1 |
A |
G |
2: 132,783,883 (GRCm39) |
V42A |
possibly damaging |
Het |
| Fgf3 |
A |
G |
7: 144,396,547 (GRCm39) |
D187G |
probably damaging |
Het |
| Flnb |
T |
A |
14: 7,901,945 (GRCm38) |
V936E |
probably damaging |
Het |
| Herc2 |
T |
C |
7: 55,772,099 (GRCm39) |
Y1093H |
probably damaging |
Het |
| Invs |
A |
G |
4: 48,283,242 (GRCm39) |
|
probably benign |
Het |
| Katnb1 |
T |
A |
8: 95,824,608 (GRCm39) |
I534N |
possibly damaging |
Het |
| Kcnq5 |
A |
T |
1: 21,472,711 (GRCm39) |
D826E |
probably damaging |
Het |
| Klra9 |
A |
T |
6: 130,165,675 (GRCm39) |
N113K |
probably benign |
Het |
| Knl1 |
A |
G |
2: 118,899,657 (GRCm39) |
K453E |
probably damaging |
Het |
| Lgi4 |
C |
T |
7: 30,770,182 (GRCm39) |
|
probably benign |
Het |
| Lpin3 |
A |
G |
2: 160,739,058 (GRCm39) |
S289G |
probably benign |
Het |
| Mapre1 |
T |
A |
2: 153,599,987 (GRCm39) |
V137E |
possibly damaging |
Het |
| Mark4 |
A |
G |
7: 19,181,168 (GRCm39) |
F144L |
possibly damaging |
Het |
| Mogat2 |
G |
T |
7: 98,872,842 (GRCm39) |
A114E |
possibly damaging |
Het |
| Msh2 |
C |
A |
17: 88,030,841 (GRCm39) |
A906E |
probably benign |
Het |
| Nell2 |
A |
G |
15: 95,425,690 (GRCm39) |
L19P |
possibly damaging |
Het |
| Nfia |
A |
T |
4: 97,671,585 (GRCm39) |
K98N |
probably damaging |
Het |
| Nutm1 |
T |
A |
2: 112,079,345 (GRCm39) |
T857S |
possibly damaging |
Het |
| Or14a257 |
TG |
T |
7: 86,138,499 (GRCm39) |
|
probably null |
Het |
| Or52a5 |
T |
C |
7: 103,426,611 (GRCm39) |
K314E |
probably benign |
Het |
| Or8g17 |
T |
A |
9: 38,929,998 (GRCm39) |
I280F |
probably damaging |
Het |
| Pde10a |
T |
C |
17: 9,195,987 (GRCm39) |
L706P |
probably damaging |
Het |
| Penk |
A |
G |
4: 4,134,296 (GRCm39) |
L117P |
probably damaging |
Het |
| Pgap1 |
A |
G |
1: 54,521,015 (GRCm39) |
S876P |
probably damaging |
Het |
| Pmfbp1 |
T |
C |
8: 110,254,399 (GRCm39) |
I478T |
possibly damaging |
Het |
| Pole |
G |
A |
5: 110,442,800 (GRCm39) |
E318K |
possibly damaging |
Het |
| Prr12 |
C |
A |
7: 44,695,801 (GRCm39) |
V1222L |
unknown |
Het |
| Prune2 |
T |
C |
19: 17,193,721 (GRCm39) |
S3070P |
possibly damaging |
Het |
| Rnf19a |
A |
G |
15: 36,244,342 (GRCm39) |
C573R |
probably benign |
Het |
| Rp1l1 |
T |
C |
14: 64,267,629 (GRCm39) |
S1072P |
probably damaging |
Het |
| Rskr |
T |
C |
11: 78,183,573 (GRCm39) |
F194L |
probably benign |
Het |
| Semp2l1 |
A |
T |
1: 32,584,729 (GRCm39) |
C394S |
probably damaging |
Het |
| Sh3pxd2a |
T |
C |
19: 47,261,850 (GRCm39) |
N315S |
possibly damaging |
Het |
| Snph |
T |
C |
2: 151,436,464 (GRCm39) |
I86V |
probably damaging |
Het |
| Sox6 |
A |
G |
7: 115,376,463 (GRCm39) |
Y90H |
probably damaging |
Het |
| Tbc1d13 |
T |
A |
2: 30,032,323 (GRCm39) |
C145S |
probably benign |
Het |
| Tcp11l1 |
T |
C |
2: 104,530,289 (GRCm39) |
E65G |
probably damaging |
Het |
| Thrb |
G |
T |
14: 18,011,181 (GRCm38) |
E186* |
probably null |
Het |
| Tmem101 |
A |
G |
11: 102,047,059 (GRCm39) |
Y38H |
possibly damaging |
Het |
| Trarg1 |
T |
A |
11: 76,571,134 (GRCm39) |
L50Q |
probably damaging |
Het |
| Urb1 |
A |
T |
16: 90,580,162 (GRCm39) |
|
probably null |
Het |
| Usp10 |
G |
A |
8: 120,683,420 (GRCm39) |
V764I |
possibly damaging |
Het |
| Usp25 |
A |
G |
16: 76,906,115 (GRCm39) |
E857G |
probably benign |
Het |
| Vmn1r17 |
A |
G |
6: 57,337,828 (GRCm39) |
V130A |
probably benign |
Het |
| Wdr35 |
T |
C |
12: 9,068,142 (GRCm39) |
L775P |
probably damaging |
Het |
| Xpnpep1 |
T |
C |
19: 53,001,845 (GRCm39) |
T134A |
probably benign |
Het |
| Zbtb10 |
T |
C |
3: 9,329,731 (GRCm39) |
V363A |
probably damaging |
Het |
| Zfp108 |
G |
T |
7: 23,960,163 (GRCm39) |
K251N |
probably benign |
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 |
|
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 |
|
R8281:Ern2
|
UTSW |
7 |
121,769,483 (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'- GACACTTACAAAAGCTGGGTGTC -3'
(R):5'- CAGACTCTGGTTGGTCTTCC -3'
Sequencing Primer
(F):5'- CACTTACAAAAGCTGGGTGTCTAAGG -3'
(R):5'- CAATACCCTCCATGAACTTTGC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation