Incidental Mutation 'R0017:Reg3b'
| ID |
8305 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Reg3b
|
| Ensembl Gene |
ENSMUSG00000071356 |
| Gene Name |
regenerating islet-derived 3 beta |
| Synonyms |
REG-III, PAP1, RegIII (beta), Pap |
| MMRRC Submission |
038312-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R0017 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
78347868-78350449 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 78349844 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 128
(M128K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145528
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089667]
[ENSMUST00000096904]
[ENSMUST00000167492]
[ENSMUST00000203266]
[ENSMUST00000204873]
[ENSMUST00000205240]
|
| AlphaFold |
P35230 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000089667
|
| SMART Domains |
Protein: ENSMUSP00000087096
Gene: ENSMUSG00000068341
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
CLECT
|
40 |
172 |
6.99e-24 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000096904
AA Change: M128K
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000094667
Gene: ENSMUSG00000071356
AA Change: M128K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
CLECT
|
40 |
172 |
1.12e-31 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167492
|
| SMART Domains |
Protein: ENSMUSP00000132220
Gene: ENSMUSG00000068341
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
CLECT
|
40 |
126 |
1.66e-1 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000203266
AA Change: M128K
PolyPhen 2
Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000145528
Gene: ENSMUSG00000071356
AA Change: M128K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
CLECT
|
40 |
143 |
5e-14 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204760
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204873
AA Change: M128K
PolyPhen 2
Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000145280
Gene: ENSMUSG00000071356
AA Change: M128K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
CLECT
|
40 |
140 |
1.6e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205240
|
| SMART Domains |
Protein: ENSMUSP00000144715
Gene: ENSMUSG00000068341
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
CLECT
|
40 |
126 |
1.66e-1 |
SMART |
|
| Meta Mutation Damage Score |
0.4295 |
| Coding Region Coverage |
- 1x: 79.1%
- 3x: 69.1%
- 10x: 41.8%
- 20x: 21.2%
|
| Validation Efficiency |
93% (76/82) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a pancreatic secretory protein that may be involved in cell proliferation or differentiation. It has similarity to the C-type lectin superfamily. The enhanced expression of this gene is observed during pancreatic inflammation and liver carcinogenesis. The mature protein also functions as an antimicrobial protein with antibacterial activity. Alternate splicing results in multiple transcript variants that encode the same protein.[provided by RefSeq, Nov 2014]
PHENOTYPE: Male homozygous mice exhibit impaired glucose tolerance. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010I14Rik |
G |
T |
17: 9,226,938 (GRCm39) |
|
probably benign |
Het |
| Adgrv1 |
T |
C |
13: 81,727,065 (GRCm39) |
N429S |
probably benign |
Het |
| Cdca8 |
T |
C |
4: 124,814,168 (GRCm39) |
T208A |
probably benign |
Het |
| Dcdc5 |
G |
A |
2: 106,187,541 (GRCm39) |
|
noncoding transcript |
Het |
| Fig4 |
A |
G |
10: 41,149,003 (GRCm39) |
Y150H |
possibly damaging |
Het |
| Fsip2 |
G |
A |
2: 82,822,416 (GRCm39) |
V6050M |
probably damaging |
Het |
| Gpld1 |
A |
G |
13: 25,174,101 (GRCm39) |
D842G |
probably damaging |
Het |
| Hmgcr |
A |
G |
13: 96,788,597 (GRCm39) |
|
probably benign |
Het |
| Ifit2 |
A |
T |
19: 34,550,973 (GRCm39) |
N171I |
probably damaging |
Het |
| Ipo11 |
T |
A |
13: 107,023,238 (GRCm39) |
I416L |
probably benign |
Het |
| Kcnab1 |
G |
A |
3: 65,264,527 (GRCm39) |
V259M |
probably damaging |
Het |
| Kif5c |
A |
G |
2: 49,622,725 (GRCm39) |
T526A |
probably benign |
Het |
| Nucb2 |
A |
G |
7: 116,132,386 (GRCm39) |
D331G |
probably benign |
Het |
| Pfdn6 |
T |
C |
17: 34,158,538 (GRCm39) |
R79G |
probably damaging |
Het |
| Pkd1 |
G |
T |
17: 24,797,513 (GRCm39) |
|
probably null |
Het |
| Ptpro |
T |
C |
6: 137,393,825 (GRCm39) |
V831A |
probably benign |
Het |
| Rif1 |
A |
G |
2: 52,006,686 (GRCm39) |
T2207A |
probably benign |
Het |
| Rpa1 |
A |
C |
11: 75,205,687 (GRCm39) |
N223K |
probably null |
Het |
| Rras2 |
T |
C |
7: 113,647,490 (GRCm39) |
|
probably benign |
Het |
| Scyl3 |
T |
A |
1: 163,767,538 (GRCm39) |
I204N |
possibly damaging |
Het |
| Slc45a1 |
C |
A |
4: 150,714,023 (GRCm39) |
D741Y |
possibly damaging |
Het |
| Slco1a5 |
A |
T |
6: 142,182,061 (GRCm39) |
|
probably benign |
Het |
| Smg5 |
G |
T |
3: 88,258,412 (GRCm39) |
R461L |
probably damaging |
Het |
| Sync |
G |
A |
4: 129,187,537 (GRCm39) |
V190M |
probably damaging |
Het |
| Tshr |
A |
T |
12: 91,504,660 (GRCm39) |
I533F |
possibly damaging |
Het |
| Tsn |
T |
C |
1: 118,228,589 (GRCm39) |
D211G |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,621,988 (GRCm39) |
T15518I |
probably benign |
Het |
| Vapb |
A |
G |
2: 173,613,397 (GRCm39) |
T99A |
probably benign |
Het |
| Zfp280d |
A |
T |
9: 72,246,292 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Reg3b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03143:Reg3b
|
APN |
6 |
78,349,183 (GRCm39) |
nonsense |
probably null |
|
|
R0017:Reg3b
|
UTSW |
6 |
78,349,844 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R0413:Reg3b
|
UTSW |
6 |
78,348,824 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1321:Reg3b
|
UTSW |
6 |
78,349,936 (GRCm39) |
splice site |
probably null |
|
|
R1794:Reg3b
|
UTSW |
6 |
78,349,197 (GRCm39) |
splice site |
probably null |
|
|
R1960:Reg3b
|
UTSW |
6 |
78,348,797 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2513:Reg3b
|
UTSW |
6 |
78,348,802 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3877:Reg3b
|
UTSW |
6 |
78,348,216 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R4033:Reg3b
|
UTSW |
6 |
78,350,192 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4874:Reg3b
|
UTSW |
6 |
78,349,809 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R5118:Reg3b
|
UTSW |
6 |
78,349,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5301:Reg3b
|
UTSW |
6 |
78,348,243 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5344:Reg3b
|
UTSW |
6 |
78,349,843 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5408:Reg3b
|
UTSW |
6 |
78,350,215 (GRCm39) |
missense |
probably benign |
|
|
R5824:Reg3b
|
UTSW |
6 |
78,349,104 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6643:Reg3b
|
UTSW |
6 |
78,349,905 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9055:Reg3b
|
UTSW |
6 |
78,349,886 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
Z1176:Reg3b
|
UTSW |
6 |
78,349,811 (GRCm39) |
missense |
probably benign |
0.13 |
|
| Posted On |
2012-11-21 |
Incidental Mutation