Incidental Mutation 'R5155:Pum2'
| ID |
396683 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pum2
|
| Ensembl Gene |
ENSMUSG00000020594 |
| Gene Name |
pumilio RNA-binding family member 2 |
| Synonyms |
Pumm2, 5730503J23Rik |
| MMRRC Submission |
042737-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5155 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
8724134-8802581 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 8763572 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 243
(V243A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126876
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020915]
[ENSMUST00000111122]
[ENSMUST00000111123]
[ENSMUST00000163569]
[ENSMUST00000163730]
[ENSMUST00000165293]
[ENSMUST00000166965]
[ENSMUST00000168361]
[ENSMUST00000169089]
[ENSMUST00000169750]
[ENSMUST00000178015]
[ENSMUST00000170037]
|
| AlphaFold |
Q80U58 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020915
AA Change: V243A
PolyPhen 2
Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000020915
Gene: ENSMUSG00000020594
AA Change: V243A
| 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 benign
Transcript: ENSMUST00000111122
AA Change: V243A
PolyPhen 2
Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000106751
Gene: ENSMUSG00000020594
AA Change: V243A
| 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 benign
Transcript: ENSMUST00000111123
AA Change: V243A
PolyPhen 2
Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000106752
Gene: ENSMUSG00000020594
AA Change: V243A
| 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: V243A
PolyPhen 2
Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000131074
Gene: ENSMUSG00000020594
AA Change: V243A
| 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: ENSMUST00000163730
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165293
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166965
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000171418
AA Change: V104A
|
| SMART Domains |
Protein: ENSMUSP00000126616
Gene: ENSMUSG00000020594
AA Change: V104A
| 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: ENSMUST00000168361
AA Change: V243A
PolyPhen 2
Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000128292
Gene: ENSMUSG00000020594
AA Change: V243A
| 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: V243A
PolyPhen 2
Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000132122
Gene: ENSMUSG00000020594
AA Change: V243A
| 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 |
possibly damaging
Transcript: ENSMUST00000169750
AA Change: V243A
PolyPhen 2
Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000126876
Gene: ENSMUSG00000020594
AA Change: V243A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
193 |
206 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000178015
AA Change: V243A
PolyPhen 2
Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000137020
Gene: ENSMUSG00000020594
AA Change: V243A
| 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 benign
Transcript: ENSMUST00000170037
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.4%
|
| Validation Efficiency |
|
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,482,447 (GRCm39) |
V4326A |
probably damaging |
Het |
| Actn4 |
A |
G |
7: 28,661,442 (GRCm39) |
|
probably null |
Het |
| Adamts8 |
A |
G |
9: 30,865,844 (GRCm39) |
D464G |
probably benign |
Het |
| Adss1 |
T |
C |
12: 112,604,642 (GRCm39) |
I366T |
probably damaging |
Het |
| Alox12e |
T |
C |
11: 70,207,081 (GRCm39) |
D575G |
possibly damaging |
Het |
| Ankrd44 |
A |
T |
1: 54,817,489 (GRCm39) |
M73K |
probably benign |
Het |
| Ap4e1 |
A |
G |
2: 126,905,289 (GRCm39) |
T987A |
probably benign |
Het |
| Banp |
A |
C |
8: 122,727,759 (GRCm39) |
S318R |
probably damaging |
Het |
| Bcas1 |
T |
C |
2: 170,260,538 (GRCm39) |
H47R |
probably damaging |
Het |
| Brwd1 |
G |
T |
16: 95,803,993 (GRCm39) |
S2524* |
probably null |
Het |
| Btbd8 |
T |
C |
5: 107,638,569 (GRCm39) |
I323T |
probably damaging |
Het |
| Cand2 |
T |
A |
6: 115,769,219 (GRCm39) |
D676E |
probably benign |
Het |
| Cc2d1a |
A |
T |
8: 84,867,755 (GRCm39) |
H224Q |
probably benign |
Het |
| Ccdc138 |
A |
T |
10: 58,343,394 (GRCm39) |
Y83F |
probably benign |
Het |
| Ccdc162 |
A |
T |
10: 41,429,576 (GRCm39) |
|
probably null |
Het |
| Ccdc162 |
A |
C |
10: 41,455,147 (GRCm39) |
S396A |
probably damaging |
Het |
| Ces1e |
A |
T |
8: 93,928,034 (GRCm39) |
*562R |
probably null |
Het |
| Clstn2 |
T |
A |
9: 97,338,484 (GRCm39) |
M892L |
probably benign |
Het |
| Crybg3 |
T |
C |
16: 59,345,264 (GRCm39) |
T2673A |
possibly damaging |
Het |
| Cstf3 |
A |
G |
2: 104,482,830 (GRCm39) |
N326S |
probably benign |
Het |
| Cux1 |
G |
A |
5: 136,594,295 (GRCm39) |
|
probably benign |
Het |
| Cyb5r4 |
T |
G |
9: 86,922,456 (GRCm39) |
M155R |
probably benign |
Het |
| D130043K22Rik |
A |
G |
13: 25,056,273 (GRCm39) |
D535G |
probably damaging |
Het |
| Dnah2 |
G |
A |
11: 69,313,362 (GRCm39) |
P4266S |
probably damaging |
Het |
| Dnah7a |
T |
A |
1: 53,682,654 (GRCm39) |
N272I |
probably benign |
Het |
| Dsg2 |
A |
G |
18: 20,731,715 (GRCm39) |
Y779C |
possibly damaging |
Het |
| Eif4g3 |
T |
A |
4: 137,854,054 (GRCm39) |
N507K |
probably benign |
Het |
| Elavl4 |
T |
C |
4: 110,149,833 (GRCm39) |
Q3R |
probably null |
Het |
| Engase |
T |
G |
11: 118,372,107 (GRCm39) |
I133S |
probably benign |
Het |
| Ercc5 |
T |
C |
1: 44,219,782 (GRCm39) |
V1018A |
probably damaging |
Het |
| Ext1 |
C |
A |
15: 52,939,213 (GRCm39) |
W612L |
probably damaging |
Het |
| Faap100 |
T |
A |
11: 120,268,458 (GRCm39) |
E105V |
possibly damaging |
Het |
| Fam8a1 |
G |
A |
13: 46,827,038 (GRCm39) |
A270T |
probably benign |
Het |
| Fhdc1 |
T |
G |
3: 84,353,457 (GRCm39) |
Q589H |
probably benign |
Het |
| Gatm |
G |
A |
2: 122,440,334 (GRCm39) |
T35I |
probably benign |
Het |
| Gcgr |
T |
C |
11: 120,427,872 (GRCm39) |
I271T |
probably benign |
Het |
| Gm527 |
T |
A |
12: 64,970,381 (GRCm39) |
Y239N |
probably damaging |
Het |
| H2-Ab1 |
A |
G |
17: 34,486,358 (GRCm39) |
H139R |
possibly damaging |
Het |
| Herc2 |
G |
A |
7: 55,877,574 (GRCm39) |
R4547Q |
possibly damaging |
Het |
| Itga1 |
A |
T |
13: 115,171,839 (GRCm39) |
S89T |
probably benign |
Het |
| Kash5 |
C |
A |
7: 44,839,078 (GRCm39) |
E53* |
probably null |
Het |
| Katnip |
A |
G |
7: 125,471,356 (GRCm39) |
T1486A |
probably damaging |
Het |
| Lrba |
A |
G |
3: 86,258,607 (GRCm39) |
M1365V |
probably benign |
Het |
| Lrp1b |
A |
C |
2: 41,618,634 (GRCm39) |
|
probably null |
Het |
| Map1a |
G |
A |
2: 121,132,867 (GRCm39) |
A990T |
probably damaging |
Het |
| Micall2 |
C |
A |
5: 139,695,986 (GRCm39) |
L784F |
probably damaging |
Het |
| Mmp9 |
T |
C |
2: 164,790,986 (GRCm39) |
|
probably null |
Het |
| Mrps7 |
T |
A |
11: 115,495,655 (GRCm39) |
Y64* |
probably null |
Het |
| Mslnl |
C |
T |
17: 25,957,942 (GRCm39) |
Q62* |
probably null |
Het |
| Nfil3 |
A |
G |
13: 53,122,616 (GRCm39) |
L96P |
probably damaging |
Het |
| Or2f1 |
A |
G |
6: 42,721,748 (GRCm39) |
Y259C |
probably damaging |
Het |
| Phf3 |
T |
C |
1: 30,863,457 (GRCm39) |
D756G |
possibly damaging |
Het |
| Plxnd1 |
C |
T |
6: 115,935,949 (GRCm39) |
|
probably null |
Het |
| Prickle4 |
C |
T |
17: 48,000,982 (GRCm39) |
|
probably null |
Het |
| Prr9 |
T |
A |
3: 92,030,356 (GRCm39) |
T95S |
possibly damaging |
Het |
| Prrc2a |
A |
G |
17: 35,379,067 (GRCm39) |
|
probably null |
Het |
| Prrt3 |
A |
G |
6: 113,474,520 (GRCm39) |
|
probably null |
Het |
| Psme4 |
A |
T |
11: 30,826,806 (GRCm39) |
Y1775F |
probably damaging |
Het |
| Rnf32 |
T |
C |
5: 29,408,145 (GRCm39) |
S125P |
probably damaging |
Het |
| Rnf8 |
A |
G |
17: 29,845,604 (GRCm39) |
Y65C |
probably damaging |
Het |
| Rph3a |
T |
C |
5: 121,086,833 (GRCm39) |
T456A |
possibly damaging |
Het |
| Scaper |
T |
A |
9: 55,463,370 (GRCm39) |
Q854L |
probably null |
Het |
| Sez6l2 |
T |
C |
7: 126,561,545 (GRCm39) |
S472P |
probably damaging |
Het |
| Spsb3 |
T |
C |
17: 25,105,969 (GRCm39) |
|
probably benign |
Het |
| Srebf2 |
A |
G |
15: 82,080,427 (GRCm39) |
D40G |
probably damaging |
Het |
| Sspo |
A |
G |
6: 48,437,408 (GRCm39) |
N1389D |
probably benign |
Het |
| Taf4b |
G |
T |
18: 14,963,152 (GRCm39) |
A631S |
probably benign |
Het |
| Tcstv1b |
T |
C |
13: 120,635,089 (GRCm39) |
S124P |
probably benign |
Het |
| Tigd4 |
G |
A |
3: 84,501,970 (GRCm39) |
V296M |
possibly damaging |
Het |
| Tsc22d2 |
T |
A |
3: 58,324,737 (GRCm39) |
|
probably benign |
Het |
| Uso1 |
T |
A |
5: 92,315,194 (GRCm39) |
|
probably null |
Het |
| Vmn2r6 |
T |
G |
3: 64,445,935 (GRCm39) |
N597H |
probably benign |
Het |
| Zfc3h1 |
T |
A |
10: 115,248,026 (GRCm39) |
S1076R |
possibly damaging |
Het |
| Zfp64 |
T |
A |
2: 168,748,885 (GRCm39) |
Q44L |
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 |
|
|
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 |
|
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'- GAAGTAGTTGAGCGCCTTGG -3'
(R):5'- GTCCTCTGAAAGAGCTATCCAG -3'
Sequencing Primer
(F):5'- TGGCCCTAGTACTAATCCCCCAG -3'
(R):5'- ACATCGCAATTCTCATTAAAAAGC -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation