Incidental Mutation 'R6255:Ern2'
| ID |
506060 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ern2
|
| Ensembl Gene |
ENSMUSG00000030866 |
| Gene Name |
endoplasmic reticulum to nucleus signalling 2 |
| Synonyms |
Ire1b |
| MMRRC Submission |
044372-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.125)
|
| Stock # |
R6255 (G1)
|
| Quality Score |
163.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
121769116-121785430 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 121772495 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 654
(K654N)
|
| 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: K654N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000033153
Gene: ENSMUSG00000030866
AA Change: K654N
| 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 |
possibly damaging
Transcript: ENSMUST00000206198
AA Change: K653N
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
| Meta Mutation Damage Score |
0.5307 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (58/58) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833420G17Rik |
T |
A |
13: 119,602,659 (GRCm39) |
V7E |
possibly damaging |
Het |
| Aars2 |
G |
A |
17: 45,825,535 (GRCm39) |
G333S |
probably damaging |
Het |
| Aen |
T |
A |
7: 78,555,592 (GRCm39) |
I85N |
probably damaging |
Het |
| Ahnak |
C |
A |
19: 8,985,389 (GRCm39) |
H2224Q |
possibly damaging |
Het |
| Aldh18a1 |
C |
T |
19: 40,568,487 (GRCm39) |
R41H |
possibly damaging |
Het |
| Bpifb9b |
T |
A |
2: 154,151,284 (GRCm39) |
W2R |
probably damaging |
Het |
| Caprin2 |
A |
G |
6: 148,779,390 (GRCm39) |
I139T |
probably benign |
Het |
| Cdhr3 |
T |
A |
12: 33,103,474 (GRCm39) |
N381I |
probably damaging |
Het |
| Cecr2 |
A |
G |
6: 120,735,011 (GRCm39) |
Y721C |
probably damaging |
Het |
| Cfhr4 |
A |
T |
1: 139,680,749 (GRCm39) |
C256* |
probably null |
Het |
| Cherp |
G |
T |
8: 73,224,725 (GRCm39) |
A125D |
probably damaging |
Het |
| Cped1 |
G |
A |
6: 22,138,714 (GRCm39) |
|
probably null |
Het |
| Ctdp1 |
T |
A |
18: 80,502,512 (GRCm39) |
|
probably null |
Het |
| Cyp2c55 |
T |
C |
19: 39,007,111 (GRCm39) |
I169T |
probably benign |
Het |
| Cyp4a31 |
T |
C |
4: 115,432,117 (GRCm39) |
L418P |
possibly damaging |
Het |
| Efcab7 |
T |
C |
4: 99,717,627 (GRCm39) |
|
probably benign |
Het |
| Efcab8 |
T |
C |
2: 153,652,188 (GRCm39) |
W466R |
possibly damaging |
Het |
| Ehd3 |
C |
A |
17: 74,112,408 (GRCm39) |
N57K |
probably benign |
Het |
| Fbh1 |
A |
T |
2: 11,753,257 (GRCm39) |
F879L |
probably benign |
Het |
| Gde1 |
T |
C |
7: 118,291,004 (GRCm39) |
D92G |
probably null |
Het |
| Heatr5b |
A |
G |
17: 79,110,863 (GRCm39) |
V995A |
probably damaging |
Het |
| Ifrd2 |
A |
G |
9: 107,469,290 (GRCm39) |
E346G |
probably damaging |
Het |
| Ism1 |
AACGGACCCGTTCTTGTGGCTATGCA |
AA |
2: 139,587,962 (GRCm39) |
|
probably benign |
Het |
| Itgb4 |
T |
C |
11: 115,888,963 (GRCm39) |
V1102A |
possibly damaging |
Het |
| Itgb6 |
A |
T |
2: 60,435,620 (GRCm39) |
I710N |
probably damaging |
Het |
| Kif1a |
T |
C |
1: 92,947,705 (GRCm39) |
K1578E |
probably damaging |
Het |
| Kif9 |
T |
C |
9: 110,346,902 (GRCm39) |
|
probably null |
Het |
| Kitl |
T |
C |
10: 99,925,095 (GRCm39) |
*57Q |
probably null |
Het |
| Lrat |
C |
A |
3: 82,810,812 (GRCm39) |
V70F |
probably damaging |
Het |
| Lrrc9 |
T |
A |
12: 72,533,797 (GRCm39) |
M1022K |
probably benign |
Het |
| Muc16 |
T |
C |
9: 18,566,895 (GRCm39) |
T1875A |
unknown |
Het |
| Mup4 |
T |
A |
4: 59,957,890 (GRCm39) |
N171I |
probably damaging |
Het |
| Npas4 |
G |
A |
19: 5,036,403 (GRCm39) |
T587I |
probably damaging |
Het |
| Oas3 |
A |
G |
5: 120,909,295 (GRCm39) |
V217A |
probably benign |
Het |
| Or6c1b |
A |
G |
10: 129,273,557 (GRCm39) |
N292S |
possibly damaging |
Het |
| Osbp |
C |
A |
19: 11,955,317 (GRCm39) |
A323D |
possibly damaging |
Het |
| Panx2 |
G |
A |
15: 88,951,821 (GRCm39) |
R96H |
probably damaging |
Het |
| Pcdhb18 |
G |
A |
18: 37,623,537 (GRCm39) |
R289Q |
probably benign |
Het |
| Piezo2 |
T |
C |
18: 63,254,341 (GRCm39) |
R385G |
possibly damaging |
Het |
| Pkn2 |
T |
C |
3: 142,517,360 (GRCm39) |
T476A |
probably damaging |
Het |
| Plekha4 |
T |
C |
7: 45,203,226 (GRCm39) |
|
probably benign |
Het |
| Ppfibp2 |
T |
C |
7: 107,280,969 (GRCm39) |
S94P |
probably damaging |
Het |
| Pramel7 |
T |
A |
2: 87,320,007 (GRCm39) |
I429L |
probably benign |
Het |
| Rif1 |
A |
G |
2: 51,975,065 (GRCm39) |
K325E |
probably damaging |
Het |
| Ror2 |
T |
C |
13: 53,264,578 (GRCm39) |
Y826C |
probably damaging |
Het |
| Rsph10b |
G |
A |
5: 143,896,564 (GRCm39) |
G19R |
probably damaging |
Het |
| Slc20a1 |
A |
G |
2: 129,049,924 (GRCm39) |
N361D |
probably damaging |
Het |
| Slc26a9 |
A |
G |
1: 131,691,647 (GRCm39) |
D630G |
probably benign |
Het |
| Smtnl2 |
G |
A |
11: 72,292,225 (GRCm39) |
A274V |
probably damaging |
Het |
| Trank1 |
T |
C |
9: 111,181,314 (GRCm39) |
|
probably null |
Het |
| Tspan10 |
T |
A |
11: 120,335,368 (GRCm39) |
C159* |
probably null |
Het |
| Uba6 |
G |
A |
5: 86,312,624 (GRCm39) |
T23I |
probably benign |
Het |
| Vmn2r74 |
T |
C |
7: 85,601,659 (GRCm39) |
T660A |
possibly damaging |
Het |
| Vwa5b1 |
T |
C |
4: 138,305,983 (GRCm39) |
N905S |
probably benign |
Het |
| Zfp831 |
T |
C |
2: 174,488,214 (GRCm39) |
L963P |
possibly damaging |
Het |
| Zfp990 |
T |
A |
4: 145,264,359 (GRCm39) |
N452K |
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 |
|
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 |
|
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'- GTACTGTCAGGAGCGGATGG -3'
(R):5'- TAGGTACCGTCTTGCTTCCAG -3'
Sequencing Primer
(F):5'- GAGATGCTTTCTTCCCAAGGCAAG -3'
(R):5'- GTACCGTCTTGCTTCCAGTCCTTAG -3'
|
| Posted On |
2018-02-28 |
Incidental Mutation