Incidental Mutation 'R8166:Pum2'
| ID |
633791 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pum2
|
| Ensembl Gene |
ENSMUSG00000020594 |
| Gene Name |
pumilio RNA-binding family member 2 |
| Synonyms |
Pumm2, 5730503J23Rik |
| MMRRC Submission |
067592-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8166 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
8724134-8802581 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 8771739 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 361
(A361T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131074
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020915]
[ENSMUST00000111122]
[ENSMUST00000111123]
[ENSMUST00000163569]
[ENSMUST00000165293]
[ENSMUST00000168361]
[ENSMUST00000169089]
[ENSMUST00000178015]
|
| AlphaFold |
Q80U58 |
| PDB Structure |
Structure and RNA binding of the mouse Pumilio-2 Puf Domain [X-RAY DIFFRACTION]
Structure and RNA binding of the mouse Pumilio-2 Puf Domain [X-RAY DIFFRACTION]
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020915
AA Change: A356T
PolyPhen 2
Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000020915
Gene: ENSMUSG00000020594
AA Change: A356T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
193 |
206 |
N/A |
INTRINSIC |
|
low complexity region
|
269 |
290 |
N/A |
INTRINSIC |
|
low complexity region
|
319 |
336 |
N/A |
INTRINSIC |
|
low complexity region
|
353 |
378 |
N/A |
INTRINSIC |
|
low complexity region
|
464 |
490 |
N/A |
INTRINSIC |
|
low complexity region
|
498 |
509 |
N/A |
INTRINSIC |
|
low complexity region
|
521 |
535 |
N/A |
INTRINSIC |
|
low complexity region
|
542 |
576 |
N/A |
INTRINSIC |
|
low complexity region
|
591 |
609 |
N/A |
INTRINSIC |
|
Pumilio
|
642 |
677 |
2.35e-7 |
SMART |
|
Pumilio
|
678 |
713 |
6.54e-6 |
SMART |
|
Pumilio
|
714 |
749 |
2.89e-7 |
SMART |
|
Pumilio
|
750 |
785 |
3.37e-8 |
SMART |
|
Pumilio
|
786 |
821 |
4.84e-9 |
SMART |
|
Pumilio
|
822 |
857 |
3.2e-9 |
SMART |
|
Pumilio
|
858 |
893 |
5.78e-7 |
SMART |
|
Pumilio
|
901 |
936 |
3.62e-8 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111122
AA Change: A361T
PolyPhen 2
Score 0.812 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000106751
Gene: ENSMUSG00000020594
AA Change: A361T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
193 |
206 |
N/A |
INTRINSIC |
|
low complexity region
|
269 |
290 |
N/A |
INTRINSIC |
|
low complexity region
|
324 |
341 |
N/A |
INTRINSIC |
|
low complexity region
|
358 |
383 |
N/A |
INTRINSIC |
|
low complexity region
|
469 |
495 |
N/A |
INTRINSIC |
|
low complexity region
|
503 |
514 |
N/A |
INTRINSIC |
|
low complexity region
|
526 |
540 |
N/A |
INTRINSIC |
|
low complexity region
|
547 |
602 |
N/A |
INTRINSIC |
|
low complexity region
|
630 |
660 |
N/A |
INTRINSIC |
|
low complexity region
|
675 |
693 |
N/A |
INTRINSIC |
|
Pumilio
|
726 |
761 |
2.35e-7 |
SMART |
|
Pumilio
|
762 |
797 |
6.54e-6 |
SMART |
|
Pumilio
|
798 |
833 |
2.89e-7 |
SMART |
|
Pumilio
|
834 |
869 |
3.37e-8 |
SMART |
|
Pumilio
|
870 |
905 |
4.84e-9 |
SMART |
|
Pumilio
|
906 |
941 |
3.2e-9 |
SMART |
|
Pumilio
|
942 |
977 |
5.78e-7 |
SMART |
|
Pumilio
|
985 |
1020 |
3.62e-8 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111123
AA Change: A361T
PolyPhen 2
Score 0.812 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000106752
Gene: ENSMUSG00000020594
AA Change: A361T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
193 |
206 |
N/A |
INTRINSIC |
|
low complexity region
|
269 |
290 |
N/A |
INTRINSIC |
|
low complexity region
|
324 |
341 |
N/A |
INTRINSIC |
|
low complexity region
|
358 |
383 |
N/A |
INTRINSIC |
|
low complexity region
|
469 |
495 |
N/A |
INTRINSIC |
|
low complexity region
|
503 |
514 |
N/A |
INTRINSIC |
|
low complexity region
|
526 |
540 |
N/A |
INTRINSIC |
|
low complexity region
|
547 |
602 |
N/A |
INTRINSIC |
|
low complexity region
|
630 |
660 |
N/A |
INTRINSIC |
|
low complexity region
|
675 |
693 |
N/A |
INTRINSIC |
|
Pumilio
|
726 |
761 |
2.35e-7 |
SMART |
|
Pumilio
|
762 |
797 |
6.54e-6 |
SMART |
|
Pumilio
|
798 |
833 |
2.89e-7 |
SMART |
|
Pumilio
|
834 |
869 |
3.37e-8 |
SMART |
|
Pumilio
|
870 |
905 |
4.84e-9 |
SMART |
|
Pumilio
|
906 |
941 |
3.2e-9 |
SMART |
|
Pumilio
|
942 |
977 |
5.78e-7 |
SMART |
|
Pumilio
|
985 |
1020 |
3.62e-8 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000163569
AA Change: A361T
PolyPhen 2
Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000131074
Gene: ENSMUSG00000020594
AA Change: A361T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
193 |
206 |
N/A |
INTRINSIC |
|
low complexity region
|
269 |
290 |
N/A |
INTRINSIC |
|
low complexity region
|
324 |
341 |
N/A |
INTRINSIC |
|
low complexity region
|
358 |
383 |
N/A |
INTRINSIC |
|
low complexity region
|
469 |
495 |
N/A |
INTRINSIC |
|
low complexity region
|
503 |
514 |
N/A |
INTRINSIC |
|
low complexity region
|
526 |
540 |
N/A |
INTRINSIC |
|
low complexity region
|
547 |
602 |
N/A |
INTRINSIC |
|
low complexity region
|
630 |
660 |
N/A |
INTRINSIC |
|
low complexity region
|
675 |
693 |
N/A |
INTRINSIC |
|
Pumilio
|
726 |
761 |
2.35e-7 |
SMART |
|
Pumilio
|
762 |
797 |
6.54e-6 |
SMART |
|
Pumilio
|
798 |
832 |
1.29e-4 |
SMART |
|
Pumilio
|
836 |
871 |
3.37e-8 |
SMART |
|
Pumilio
|
872 |
907 |
4.84e-9 |
SMART |
|
Pumilio
|
908 |
943 |
3.2e-9 |
SMART |
|
Pumilio
|
944 |
979 |
5.78e-7 |
SMART |
|
Pumilio
|
987 |
1022 |
3.62e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165293
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000168361
AA Change: A361T
PolyPhen 2
Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000128292
Gene: ENSMUSG00000020594
AA Change: A361T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
193 |
206 |
N/A |
INTRINSIC |
|
low complexity region
|
269 |
290 |
N/A |
INTRINSIC |
|
low complexity region
|
324 |
341 |
N/A |
INTRINSIC |
|
low complexity region
|
358 |
383 |
N/A |
INTRINSIC |
|
low complexity region
|
469 |
495 |
N/A |
INTRINSIC |
|
low complexity region
|
503 |
514 |
N/A |
INTRINSIC |
|
low complexity region
|
526 |
540 |
N/A |
INTRINSIC |
|
low complexity region
|
547 |
602 |
N/A |
INTRINSIC |
|
low complexity region
|
630 |
660 |
N/A |
INTRINSIC |
|
low complexity region
|
675 |
693 |
N/A |
INTRINSIC |
|
Pumilio
|
726 |
761 |
2.35e-7 |
SMART |
|
Pumilio
|
762 |
797 |
6.54e-6 |
SMART |
|
Pumilio
|
798 |
832 |
1.29e-4 |
SMART |
|
Pumilio
|
836 |
871 |
3.37e-8 |
SMART |
|
Pumilio
|
872 |
907 |
4.84e-9 |
SMART |
|
Pumilio
|
908 |
943 |
3.2e-9 |
SMART |
|
Pumilio
|
944 |
979 |
5.78e-7 |
SMART |
|
Pumilio
|
987 |
1022 |
3.62e-8 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000169089
AA Change: A361T
PolyPhen 2
Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000132122
Gene: ENSMUSG00000020594
AA Change: A361T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
193 |
206 |
N/A |
INTRINSIC |
|
low complexity region
|
269 |
290 |
N/A |
INTRINSIC |
|
low complexity region
|
324 |
341 |
N/A |
INTRINSIC |
|
low complexity region
|
358 |
383 |
N/A |
INTRINSIC |
|
low complexity region
|
469 |
495 |
N/A |
INTRINSIC |
|
low complexity region
|
503 |
514 |
N/A |
INTRINSIC |
|
low complexity region
|
526 |
540 |
N/A |
INTRINSIC |
|
low complexity region
|
547 |
581 |
N/A |
INTRINSIC |
|
low complexity region
|
596 |
614 |
N/A |
INTRINSIC |
|
Pumilio
|
647 |
682 |
2.35e-7 |
SMART |
|
Pumilio
|
683 |
718 |
6.54e-6 |
SMART |
|
Pumilio
|
719 |
754 |
2.89e-7 |
SMART |
|
Pumilio
|
755 |
790 |
3.37e-8 |
SMART |
|
Pumilio
|
791 |
826 |
4.84e-9 |
SMART |
|
Pumilio
|
827 |
862 |
3.2e-9 |
SMART |
|
Pumilio
|
863 |
898 |
5.78e-7 |
SMART |
|
Pumilio
|
906 |
941 |
3.62e-8 |
SMART |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000126616
Gene: ENSMUSG00000020594
AA Change: A216T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
55 |
68 |
N/A |
INTRINSIC |
|
low complexity region
|
131 |
152 |
N/A |
INTRINSIC |
|
low complexity region
|
180 |
197 |
N/A |
INTRINSIC |
|
low complexity region
|
214 |
234 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000178015
AA Change: A361T
PolyPhen 2
Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000137020
Gene: ENSMUSG00000020594
AA Change: A361T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
193 |
206 |
N/A |
INTRINSIC |
|
low complexity region
|
269 |
290 |
N/A |
INTRINSIC |
|
low complexity region
|
324 |
341 |
N/A |
INTRINSIC |
|
low complexity region
|
358 |
383 |
N/A |
INTRINSIC |
|
low complexity region
|
469 |
495 |
N/A |
INTRINSIC |
|
low complexity region
|
503 |
514 |
N/A |
INTRINSIC |
|
low complexity region
|
526 |
540 |
N/A |
INTRINSIC |
|
low complexity region
|
547 |
581 |
N/A |
INTRINSIC |
|
low complexity region
|
596 |
614 |
N/A |
INTRINSIC |
|
Pumilio
|
647 |
682 |
2.35e-7 |
SMART |
|
Pumilio
|
683 |
718 |
6.54e-6 |
SMART |
|
Pumilio
|
719 |
754 |
2.89e-7 |
SMART |
|
Pumilio
|
755 |
790 |
3.37e-8 |
SMART |
|
Pumilio
|
791 |
826 |
4.84e-9 |
SMART |
|
Pumilio
|
827 |
862 |
3.2e-9 |
SMART |
|
Pumilio
|
863 |
898 |
5.78e-7 |
SMART |
|
Pumilio
|
906 |
941 |
3.62e-8 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
100% (59/59) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to a family of RNA-binding proteins. The encoded protein functions as a translational repressor during embryonic development and cell differentiation. This protein is also thought to be a positive regulator of cell proliferation in adipose-derived stem cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit significantly smaller testes and seminiferous tubule degeneration but are otherwise viable and fertile. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad9 |
T |
C |
3: 36,144,232 (GRCm39) |
V569A |
probably benign |
Het |
| Actrt3 |
A |
G |
3: 30,652,674 (GRCm39) |
F140S |
probably damaging |
Het |
| Alx1 |
T |
A |
10: 102,845,224 (GRCm39) |
Q269L |
probably damaging |
Het |
| Amph |
G |
T |
13: 19,132,660 (GRCm39) |
A20S |
possibly damaging |
Het |
| Aqr |
T |
A |
2: 113,943,806 (GRCm39) |
M1111L |
possibly damaging |
Het |
| Atp10a |
A |
T |
7: 58,457,270 (GRCm39) |
H923L |
possibly damaging |
Het |
| Bmpr1a |
A |
C |
14: 34,147,026 (GRCm39) |
W249G |
probably damaging |
Het |
| Bmpr2 |
A |
T |
1: 59,906,740 (GRCm39) |
N611I |
probably damaging |
Het |
| Cadm2 |
A |
G |
16: 66,750,197 (GRCm39) |
L9S |
probably benign |
Het |
| Ccdc102a |
C |
A |
8: 95,639,944 (GRCm39) |
A117S |
possibly damaging |
Het |
| Clec4f |
G |
T |
6: 83,629,624 (GRCm39) |
S311R |
possibly damaging |
Het |
| Dchs2 |
T |
A |
3: 83,261,640 (GRCm39) |
I2636N |
probably benign |
Het |
| Dync2h1 |
T |
A |
9: 7,129,089 (GRCm39) |
K1809* |
probably null |
Het |
| Efs |
C |
T |
14: 55,158,077 (GRCm39) |
R108Q |
probably damaging |
Het |
| Eif5b |
A |
G |
1: 38,087,901 (GRCm39) |
T966A |
probably benign |
Het |
| Entrep2 |
A |
G |
7: 64,409,153 (GRCm39) |
S414P |
probably benign |
Het |
| Flnc |
A |
C |
6: 29,433,731 (GRCm39) |
N92H |
probably damaging |
Het |
| Gm13030 |
A |
T |
4: 138,598,533 (GRCm39) |
L130H |
unknown |
Het |
| Gm17190 |
A |
C |
13: 96,219,142 (GRCm39) |
R159S |
unknown |
Het |
| Hipk1 |
T |
C |
3: 103,685,489 (GRCm39) |
Y42C |
possibly damaging |
Het |
| Ifi207 |
C |
A |
1: 173,557,166 (GRCm39) |
C524F |
possibly damaging |
Het |
| Ifi207 |
A |
C |
1: 173,557,504 (GRCm39) |
S411R |
probably benign |
Het |
| Ighv8-9 |
G |
T |
12: 115,432,212 (GRCm39) |
P33H |
probably damaging |
Het |
| Igkv8-34 |
A |
G |
6: 70,021,619 (GRCm39) |
V15A |
probably benign |
Het |
| Irx5 |
T |
A |
8: 93,086,712 (GRCm39) |
|
probably null |
Het |
| Kcnh4 |
A |
G |
11: 100,632,712 (GRCm39) |
L925P |
probably benign |
Het |
| Kctd9 |
G |
A |
14: 67,967,141 (GRCm39) |
R153H |
possibly damaging |
Het |
| Lats1 |
A |
G |
10: 7,577,880 (GRCm39) |
T335A |
probably benign |
Het |
| Med20 |
A |
G |
17: 47,924,027 (GRCm39) |
T52A |
probably benign |
Het |
| Msantd4 |
A |
T |
9: 4,384,095 (GRCm39) |
T139S |
possibly damaging |
Het |
| Mtif3 |
T |
C |
5: 146,896,052 (GRCm39) |
T12A |
probably benign |
Het |
| N4bp2 |
T |
G |
5: 65,977,655 (GRCm39) |
S1518A |
probably benign |
Het |
| Naip2 |
T |
C |
13: 100,298,515 (GRCm39) |
N507S |
probably benign |
Het |
| Nasp |
A |
T |
4: 116,468,112 (GRCm39) |
V291E |
probably benign |
Het |
| Ncapg2 |
T |
G |
12: 116,376,036 (GRCm39) |
D40E |
probably benign |
Het |
| Nipsnap1 |
A |
G |
11: 4,834,057 (GRCm39) |
D103G |
probably benign |
Het |
| Nsmce1 |
A |
G |
7: 125,070,319 (GRCm39) |
L164P |
probably damaging |
Het |
| Ogdhl |
G |
A |
14: 32,059,763 (GRCm39) |
V426I |
probably damaging |
Het |
| Or5p66 |
A |
G |
7: 107,885,904 (GRCm39) |
V143A |
probably benign |
Het |
| P3h2 |
T |
C |
16: 25,811,572 (GRCm39) |
E217G |
possibly damaging |
Het |
| Pnpt1 |
A |
G |
11: 29,106,875 (GRCm39) |
I649V |
probably benign |
Het |
| Prxl2c |
A |
T |
13: 64,456,921 (GRCm39) |
Y101N |
|
Het |
| Rictor |
G |
A |
15: 6,798,815 (GRCm39) |
|
probably null |
Het |
| Rps6ka4 |
G |
A |
19: 6,814,811 (GRCm39) |
R264W |
possibly damaging |
Het |
| Rsf1 |
G |
GACGGCGGCA |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
| Sall1 |
T |
C |
8: 89,755,146 (GRCm39) |
T1278A |
probably benign |
Het |
| Scg2 |
T |
A |
1: 79,413,300 (GRCm39) |
K434N |
possibly damaging |
Het |
| Suclg1 |
T |
A |
6: 73,237,555 (GRCm39) |
V100D |
probably damaging |
Het |
| Tarbp1 |
T |
G |
8: 127,153,867 (GRCm39) |
E1528D |
possibly damaging |
Het |
| Trgc1 |
A |
G |
13: 19,400,772 (GRCm39) |
N167S |
|
Het |
| Tshz2 |
C |
A |
2: 169,725,575 (GRCm39) |
T57K |
probably benign |
Het |
| Ttc22 |
G |
A |
4: 106,491,673 (GRCm39) |
R229H |
probably damaging |
Het |
| Vcan |
A |
G |
13: 89,840,855 (GRCm39) |
V1563A |
probably benign |
Het |
| Vmn1r68 |
A |
T |
7: 10,261,888 (GRCm39) |
M70K |
probably benign |
Het |
| Vmn2r105 |
A |
T |
17: 20,428,904 (GRCm39) |
I724N |
probably benign |
Het |
| Vmn2r96 |
T |
C |
17: 18,802,744 (GRCm39) |
L26P |
probably damaging |
Het |
| Wdr72 |
G |
A |
9: 74,120,610 (GRCm39) |
S955N |
probably benign |
Het |
| Zfp518b |
C |
A |
5: 38,831,838 (GRCm39) |
A56S |
probably damaging |
Het |
|
| Other mutations in Pum2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00737:Pum2
|
APN |
12 |
8,783,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02118:Pum2
|
APN |
12 |
8,779,117 (GRCm39) |
missense |
probably benign |
0.31 |
|
IGL02185:Pum2
|
APN |
12 |
8,798,955 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02528:Pum2
|
APN |
12 |
8,778,696 (GRCm39) |
nonsense |
probably null |
|
|
IGL02718:Pum2
|
APN |
12 |
8,783,344 (GRCm39) |
missense |
probably benign |
0.02 |
|
Plumbat
|
UTSW |
12 |
8,778,779 (GRCm39) |
critical splice donor site |
probably null |
|
|
Pummie
|
UTSW |
12 |
8,763,906 (GRCm39) |
nonsense |
probably null |
|
|
Yorkshire
|
UTSW |
12 |
8,778,726 (GRCm39) |
nonsense |
probably null |
|
|
PIT4366001:Pum2
|
UTSW |
12 |
8,783,390 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0152:Pum2
|
UTSW |
12 |
8,778,754 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0317:Pum2
|
UTSW |
12 |
8,778,754 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0357:Pum2
|
UTSW |
12 |
8,771,785 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0413:Pum2
|
UTSW |
12 |
8,763,464 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0494:Pum2
|
UTSW |
12 |
8,771,736 (GRCm39) |
nonsense |
probably null |
|
|
R0520:Pum2
|
UTSW |
12 |
8,771,710 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0727:Pum2
|
UTSW |
12 |
8,794,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1576:Pum2
|
UTSW |
12 |
8,763,524 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2035:Pum2
|
UTSW |
12 |
8,778,638 (GRCm39) |
nonsense |
probably null |
|
|
R2060:Pum2
|
UTSW |
12 |
8,778,726 (GRCm39) |
nonsense |
probably null |
|
|
R2422:Pum2
|
UTSW |
12 |
8,798,931 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R2437:Pum2
|
UTSW |
12 |
8,794,654 (GRCm39) |
missense |
probably benign |
0.19 |
|
R3767:Pum2
|
UTSW |
12 |
8,769,076 (GRCm39) |
nonsense |
probably null |
|
|
R4715:Pum2
|
UTSW |
12 |
8,797,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5155:Pum2
|
UTSW |
12 |
8,763,572 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5226:Pum2
|
UTSW |
12 |
8,763,458 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5323:Pum2
|
UTSW |
12 |
8,794,706 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6250:Pum2
|
UTSW |
12 |
8,794,755 (GRCm39) |
splice site |
probably null |
|
|
R6253:Pum2
|
UTSW |
12 |
8,798,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6508:Pum2
|
UTSW |
12 |
8,798,861 (GRCm39) |
missense |
probably benign |
0.17 |
|
R6953:Pum2
|
UTSW |
12 |
8,778,779 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7135:Pum2
|
UTSW |
12 |
8,778,952 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7355:Pum2
|
UTSW |
12 |
8,763,906 (GRCm39) |
nonsense |
probably null |
|
|
R7586:Pum2
|
UTSW |
12 |
8,797,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7683:Pum2
|
UTSW |
12 |
8,778,922 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7869:Pum2
|
UTSW |
12 |
8,763,595 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7873:Pum2
|
UTSW |
12 |
8,798,802 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7980:Pum2
|
UTSW |
12 |
8,763,904 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8316:Pum2
|
UTSW |
12 |
8,763,456 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8345:Pum2
|
UTSW |
12 |
8,759,454 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8418:Pum2
|
UTSW |
12 |
8,760,245 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8802:Pum2
|
UTSW |
12 |
8,778,726 (GRCm39) |
nonsense |
probably null |
|
|
R9039:Pum2
|
UTSW |
12 |
8,794,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9207:Pum2
|
UTSW |
12 |
8,763,904 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9366:Pum2
|
UTSW |
12 |
8,783,344 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9700:Pum2
|
UTSW |
12 |
8,779,044 (GRCm39) |
missense |
probably damaging |
0.97 |
|
X0039:Pum2
|
UTSW |
12 |
8,778,944 (GRCm39) |
small deletion |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTCTAAGCCTTAGATTTGTCTCC -3'
(R):5'- CACCAAACCTTTAAATGCTGATCAG -3'
Sequencing Primer
(F):5'- CATATGGGGTTTAGGTCCA -3'
(R):5'- GTACTGAGGAATGGACTGTA -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation