Incidental Mutation 'R0520:Pum2'
| ID |
48471 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pum2
|
| Ensembl Gene |
ENSMUSG00000020594 |
| Gene Name |
pumilio RNA-binding family member 2 |
| Synonyms |
Pumm2, 5730503J23Rik |
| MMRRC Submission |
038713-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0520 (G1)
|
| Quality Score |
193 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
8724134-8802581 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 8771710 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 351
(V351E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106752
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020915]
[ENSMUST00000111122]
[ENSMUST00000111123]
[ENSMUST00000163569]
[ENSMUST00000165293]
[ENSMUST00000168361]
[ENSMUST00000169089]
[ENSMUST00000178015]
|
| AlphaFold |
Q80U58 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020915
AA Change: V346E
PolyPhen 2
Score 0.413 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000020915
Gene: ENSMUSG00000020594
AA Change: V346E
| 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 |
probably damaging
Transcript: ENSMUST00000111122
AA Change: V351E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000106751
Gene: ENSMUSG00000020594
AA Change: V351E
| 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 |
probably damaging
Transcript: ENSMUST00000111123
AA Change: V351E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000106752
Gene: ENSMUSG00000020594
AA Change: V351E
| 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 |
probably damaging
Transcript: ENSMUST00000163569
AA Change: V351E
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000131074
Gene: ENSMUSG00000020594
AA Change: V351E
| 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 |
probably damaging
Transcript: ENSMUST00000168361
AA Change: V351E
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000128292
Gene: ENSMUSG00000020594
AA Change: V351E
| 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 damaging
Transcript: ENSMUST00000169089
AA Change: V351E
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000132122
Gene: ENSMUSG00000020594
AA Change: V351E
| 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 |
probably damaging
Transcript: ENSMUST00000178015
AA Change: V351E
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000137020
Gene: ENSMUSG00000020594
AA Change: V351E
| 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 |
unknown
Transcript: ENSMUST00000171418
AA Change: V206E
|
| SMART Domains |
Protein: ENSMUSP00000126616
Gene: ENSMUSG00000020594
AA Change: V206E
| 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 |
|
| Meta Mutation Damage Score |
0.3780 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.2%
|
| Validation Efficiency |
100% (72/72) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acod1 |
T |
C |
14: 103,288,952 (GRCm39) |
I154T |
possibly damaging |
Het |
| Acr |
G |
T |
15: 89,457,430 (GRCm39) |
C226F |
probably damaging |
Het |
| Aff1 |
C |
T |
5: 103,995,617 (GRCm39) |
R1070* |
probably null |
Het |
| Aldh9a1 |
C |
T |
1: 167,188,960 (GRCm39) |
|
probably benign |
Het |
| Apaf1 |
A |
T |
10: 90,915,851 (GRCm39) |
H12Q |
probably damaging |
Het |
| Asic1 |
A |
T |
15: 99,593,416 (GRCm39) |
I291F |
probably damaging |
Het |
| Aspm |
T |
A |
1: 139,406,558 (GRCm39) |
M1815K |
possibly damaging |
Het |
| Asxl3 |
A |
T |
18: 22,656,043 (GRCm39) |
D1351V |
probably damaging |
Het |
| Atg9a |
C |
T |
1: 75,163,178 (GRCm39) |
W299* |
probably null |
Het |
| B3gntl1 |
C |
A |
11: 121,514,314 (GRCm39) |
V313F |
possibly damaging |
Het |
| B4galnt4 |
T |
A |
7: 140,647,286 (GRCm39) |
C345* |
probably null |
Het |
| Bicc1 |
A |
T |
10: 70,793,020 (GRCm39) |
F211L |
probably damaging |
Het |
| Cachd1 |
T |
G |
4: 100,754,900 (GRCm39) |
V117G |
probably damaging |
Het |
| Cdc16 |
G |
A |
8: 13,810,569 (GRCm39) |
|
probably null |
Het |
| Cers6 |
C |
T |
2: 68,935,435 (GRCm39) |
Q312* |
probably null |
Het |
| Csta2 |
A |
G |
16: 36,073,461 (GRCm39) |
I16V |
probably benign |
Het |
| Dclre1c |
A |
G |
2: 3,437,512 (GRCm39) |
H115R |
probably damaging |
Het |
| Ddx20 |
T |
C |
3: 105,594,692 (GRCm39) |
T18A |
probably benign |
Het |
| Dhx57 |
A |
G |
17: 80,565,604 (GRCm39) |
V816A |
possibly damaging |
Het |
| Dlgap1 |
C |
T |
17: 70,823,989 (GRCm39) |
Q325* |
probably null |
Het |
| Dnaja1 |
A |
T |
4: 40,728,072 (GRCm39) |
M178L |
probably benign |
Het |
| Ecd |
A |
T |
14: 20,378,732 (GRCm39) |
S454T |
probably benign |
Het |
| Efcab6 |
G |
A |
15: 83,834,247 (GRCm39) |
H454Y |
probably benign |
Het |
| Exo1 |
T |
A |
1: 175,727,031 (GRCm39) |
D447E |
probably benign |
Het |
| F5 |
T |
G |
1: 164,037,156 (GRCm39) |
I1965S |
probably benign |
Het |
| Fbn2 |
A |
G |
18: 58,146,821 (GRCm39) |
C2692R |
probably damaging |
Het |
| Fggy |
T |
A |
4: 95,489,340 (GRCm39) |
L152Q |
probably damaging |
Het |
| Glb1 |
ACCC |
ACC |
9: 114,250,812 (GRCm39) |
|
probably null |
Het |
| Gm9871 |
A |
G |
6: 101,778,540 (GRCm39) |
|
noncoding transcript |
Het |
| Gnai2 |
A |
T |
9: 107,497,372 (GRCm39) |
D7E |
probably benign |
Het |
| Gon7 |
C |
T |
12: 102,724,047 (GRCm39) |
|
probably benign |
Het |
| H2-K2 |
A |
T |
17: 34,216,390 (GRCm39) |
V272E |
probably damaging |
Het |
| Hectd4 |
G |
T |
5: 121,469,770 (GRCm39) |
R2555L |
possibly damaging |
Het |
| Hexb |
T |
C |
13: 97,317,618 (GRCm39) |
R360G |
probably benign |
Het |
| Igsf9b |
C |
A |
9: 27,234,546 (GRCm39) |
S470R |
probably benign |
Het |
| Inpp5d |
T |
C |
1: 87,633,642 (GRCm39) |
|
probably benign |
Het |
| Inpp5k |
C |
A |
11: 75,530,356 (GRCm39) |
Y265* |
probably null |
Het |
| Klhl33 |
T |
G |
14: 51,129,140 (GRCm39) |
E436D |
probably damaging |
Het |
| Krt80 |
A |
G |
15: 101,267,898 (GRCm39) |
L13P |
probably benign |
Het |
| Krtap19-2 |
C |
T |
16: 88,670,749 (GRCm39) |
|
probably benign |
Het |
| Marchf10 |
T |
C |
11: 105,280,708 (GRCm39) |
T526A |
probably benign |
Het |
| Mcrs1 |
A |
G |
15: 99,146,336 (GRCm39) |
|
probably null |
Het |
| Msh2 |
G |
T |
17: 88,024,972 (GRCm39) |
V617F |
possibly damaging |
Het |
| Nckap1 |
A |
C |
2: 80,371,874 (GRCm39) |
|
probably benign |
Het |
| Nek4 |
T |
A |
14: 30,681,263 (GRCm39) |
|
probably benign |
Het |
| Or7h8 |
G |
A |
9: 20,123,791 (GRCm39) |
V49I |
probably benign |
Het |
| Or8b12b |
T |
C |
9: 37,684,849 (GRCm39) |
V298A |
probably benign |
Het |
| Or8k22 |
G |
T |
2: 86,163,475 (GRCm39) |
T75K |
probably damaging |
Het |
| Or9s14 |
T |
A |
1: 92,536,471 (GRCm39) |
V304E |
probably damaging |
Het |
| Osgin1 |
A |
G |
8: 120,169,247 (GRCm39) |
H48R |
probably damaging |
Het |
| Pam |
T |
A |
1: 97,811,920 (GRCm39) |
T369S |
probably benign |
Het |
| Pclo |
C |
T |
5: 14,763,844 (GRCm39) |
Q821* |
probably null |
Het |
| Plekhm1 |
T |
C |
11: 103,285,770 (GRCm39) |
I222V |
probably benign |
Het |
| Ptprg |
T |
G |
14: 12,199,783 (GRCm38) |
N65K |
possibly damaging |
Het |
| Slc25a54 |
T |
A |
3: 109,014,546 (GRCm39) |
|
probably benign |
Het |
| Smchd1 |
A |
T |
17: 71,736,538 (GRCm39) |
D587E |
possibly damaging |
Het |
| Stap1 |
A |
G |
5: 86,238,823 (GRCm39) |
M164V |
probably benign |
Het |
| Stat5a |
T |
C |
11: 100,752,252 (GRCm39) |
V30A |
probably damaging |
Het |
| Stk36 |
T |
G |
1: 74,641,365 (GRCm39) |
|
probably benign |
Het |
| Tiam1 |
G |
T |
16: 89,614,839 (GRCm39) |
|
probably benign |
Het |
| Tmc5 |
T |
C |
7: 118,265,799 (GRCm39) |
M553T |
probably damaging |
Het |
| Tmem14a |
T |
A |
1: 21,299,636 (GRCm39) |
Y89N |
possibly damaging |
Het |
| Tpp2 |
A |
G |
1: 44,029,690 (GRCm39) |
Y991C |
probably damaging |
Het |
| Ttc7 |
A |
G |
17: 87,666,579 (GRCm39) |
K615E |
possibly damaging |
Het |
| Ubac2 |
C |
T |
14: 122,231,754 (GRCm39) |
P227S |
probably damaging |
Het |
| Vit |
A |
C |
17: 78,932,588 (GRCm39) |
K565T |
probably damaging |
Het |
| Vps13c |
T |
C |
9: 67,853,133 (GRCm39) |
F2409L |
possibly damaging |
Het |
| Wdr64 |
A |
G |
1: 175,553,958 (GRCm39) |
T173A |
probably damaging |
Het |
| Zfp759 |
T |
C |
13: 67,285,419 (GRCm39) |
I60T |
probably benign |
Het |
| Zfp81 |
A |
G |
17: 33,553,351 (GRCm39) |
S488P |
probably damaging |
Het |
| Zic2 |
CCCACCACCACCATCACCACCACCACC |
CCCACCATCACCACCACCACC |
14: 122,713,776 (GRCm39) |
|
probably benign |
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 |
|
|
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 |
|
R8166:Pum2
|
UTSW |
12 |
8,771,739 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
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'- GTCTTTGATAGCAGCAGTAAGCTGGG -3'
(R):5'- CAGGACACACCAAAGCATTGTTTTAGG -3'
Sequencing Primer
(F):5'- agttgtttacaaactgagacgatg -3'
(R):5'- tgtgccactattgccagac -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation