Incidental Mutation 'R0357:Pum2'
| ID |
29898 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pum2
|
| Ensembl Gene |
ENSMUSG00000020594 |
| Gene Name |
pumilio RNA-binding family member 2 |
| Synonyms |
Pumm2, 5730503J23Rik |
| MMRRC Submission |
038563-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0357 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
8724134-8802581 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 8771785 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 371
(Q371R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020915
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020915]
[ENSMUST00000111122]
[ENSMUST00000111123]
[ENSMUST00000163569]
[ENSMUST00000165293]
[ENSMUST00000168361]
[ENSMUST00000169089]
[ENSMUST00000178015]
|
| AlphaFold |
Q80U58 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020915
AA Change: Q371R
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000020915
Gene: ENSMUSG00000020594
AA Change: Q371R
| 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: Q376R
PolyPhen 2
Score 0.532 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000106751
Gene: ENSMUSG00000020594
AA Change: Q376R
| 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: Q376R
PolyPhen 2
Score 0.532 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000106752
Gene: ENSMUSG00000020594
AA Change: Q376R
| 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: ENSMUST00000163569
AA Change: Q376R
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000131074
Gene: ENSMUSG00000020594
AA Change: Q376R
| 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 benign
Transcript: ENSMUST00000168361
AA Change: Q376R
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000128292
Gene: ENSMUSG00000020594
AA Change: Q376R
| 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: ENSMUST00000169089
AA Change: Q376R
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000132122
Gene: ENSMUSG00000020594
AA Change: Q376R
| 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: ENSMUST00000178015
AA Change: Q376R
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000137020
Gene: ENSMUSG00000020594
AA Change: Q376R
| 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: Q231R
|
| SMART Domains |
Protein: ENSMUSP00000126616
Gene: ENSMUSG00000020594
AA Change: Q231R
| 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 |
0.0620 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 97.9%
- 10x: 95.3%
- 20x: 89.3%
|
| Validation Efficiency |
99% (74/75) |
| 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 |
|---|
| Abcf2 |
T |
C |
5: 24,778,463 (GRCm39) |
K232E |
probably benign |
Het |
| AI837181 |
C |
T |
19: 5,476,731 (GRCm39) |
T298I |
possibly damaging |
Het |
| Alox12 |
T |
C |
11: 70,133,362 (GRCm39) |
Y614C |
probably damaging |
Het |
| Amn |
A |
T |
12: 111,240,575 (GRCm39) |
|
probably null |
Het |
| Ankrd33b |
A |
G |
15: 31,305,272 (GRCm39) |
S121P |
probably benign |
Het |
| Aox1 |
A |
G |
1: 58,131,675 (GRCm39) |
Y1028C |
probably damaging |
Het |
| Asph |
C |
A |
4: 9,453,314 (GRCm39) |
R736L |
probably benign |
Het |
| Atp2a3 |
G |
A |
11: 72,861,757 (GRCm39) |
|
probably null |
Het |
| Cables2 |
T |
C |
2: 179,904,025 (GRCm39) |
|
probably benign |
Het |
| Catsperg2 |
A |
T |
7: 29,414,326 (GRCm39) |
Y360N |
possibly damaging |
Het |
| Cdh4 |
T |
C |
2: 179,489,133 (GRCm39) |
S282P |
probably damaging |
Het |
| Col5a3 |
C |
T |
9: 20,719,064 (GRCm39) |
|
probably benign |
Het |
| Ctso |
A |
T |
3: 81,858,850 (GRCm39) |
|
probably benign |
Het |
| Cyp4f13 |
A |
T |
17: 33,151,625 (GRCm39) |
Y125* |
probably null |
Het |
| Dapk1 |
T |
A |
13: 60,877,372 (GRCm39) |
L537* |
probably null |
Het |
| Ddit4l |
G |
A |
3: 137,331,946 (GRCm39) |
R104Q |
probably benign |
Het |
| Def6 |
C |
T |
17: 28,442,909 (GRCm39) |
H322Y |
probably damaging |
Het |
| Dnaaf9 |
A |
T |
2: 130,554,866 (GRCm39) |
|
probably benign |
Het |
| Dnah6 |
T |
C |
6: 73,165,342 (GRCm39) |
N588D |
probably benign |
Het |
| Dzip1 |
T |
A |
14: 119,146,950 (GRCm39) |
I320F |
probably damaging |
Het |
| Epb41l5 |
T |
C |
1: 119,536,934 (GRCm39) |
H319R |
probably damaging |
Het |
| Erc2 |
A |
G |
14: 27,498,979 (GRCm39) |
E285G |
probably damaging |
Het |
| Fat4 |
G |
A |
3: 38,945,376 (GRCm39) |
G1423E |
probably damaging |
Het |
| Foxp2 |
C |
T |
6: 15,409,839 (GRCm39) |
P480S |
probably damaging |
Het |
| Gadd45gip1 |
G |
A |
8: 85,560,762 (GRCm39) |
A126T |
probably damaging |
Het |
| Gbp5 |
G |
A |
3: 142,211,172 (GRCm39) |
D301N |
probably benign |
Het |
| Gm10360 |
T |
C |
6: 70,401,297 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6471 |
T |
A |
7: 142,387,604 (GRCm39) |
|
noncoding transcript |
Het |
| Gm8674 |
T |
A |
13: 50,056,149 (GRCm39) |
|
noncoding transcript |
Het |
| H2bc18 |
A |
C |
3: 96,177,104 (GRCm39) |
K13Q |
probably null |
Het |
| Ift172 |
A |
G |
5: 31,415,244 (GRCm39) |
S1322P |
possibly damaging |
Het |
| Ift80 |
A |
T |
3: 68,821,986 (GRCm39) |
Y686* |
probably null |
Het |
| Insrr |
A |
C |
3: 87,715,953 (GRCm39) |
|
probably null |
Het |
| Itprid1 |
T |
A |
6: 55,945,019 (GRCm39) |
M580K |
probably benign |
Het |
| Krt87 |
C |
T |
15: 101,384,900 (GRCm39) |
V399M |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,351,776 (GRCm39) |
N3708S |
probably damaging |
Het |
| Matcap1 |
A |
T |
8: 106,011,699 (GRCm39) |
V222E |
probably damaging |
Het |
| Mogat1 |
T |
C |
1: 78,488,677 (GRCm39) |
S27P |
probably benign |
Het |
| Mrgpra4 |
A |
T |
7: 47,631,574 (GRCm39) |
M9K |
probably benign |
Het |
| Mtus1 |
A |
T |
8: 41,536,563 (GRCm39) |
S384R |
possibly damaging |
Het |
| Myo1a |
T |
A |
10: 127,546,771 (GRCm39) |
M306K |
probably benign |
Het |
| Noxa1 |
G |
T |
2: 24,975,862 (GRCm39) |
D403E |
probably damaging |
Het |
| Ogdhl |
T |
C |
14: 32,068,415 (GRCm39) |
V884A |
possibly damaging |
Het |
| Or10ak12 |
A |
C |
4: 118,666,614 (GRCm39) |
L149R |
probably damaging |
Het |
| Or2y1f |
A |
G |
11: 49,184,613 (GRCm39) |
N155S |
probably damaging |
Het |
| Or6k4 |
T |
A |
1: 173,964,865 (GRCm39) |
L185* |
probably null |
Het |
| Or6n1 |
T |
C |
1: 173,916,675 (GRCm39) |
V23A |
possibly damaging |
Het |
| Paxip1 |
G |
A |
5: 27,963,621 (GRCm39) |
|
probably benign |
Het |
| Paxx |
T |
A |
2: 25,350,079 (GRCm39) |
E145D |
probably damaging |
Het |
| Pde4d |
T |
C |
13: 110,087,802 (GRCm39) |
V560A |
possibly damaging |
Het |
| Pheta2 |
C |
T |
15: 82,227,517 (GRCm39) |
A12V |
probably damaging |
Het |
| Plxnd1 |
C |
T |
6: 115,946,421 (GRCm39) |
V847M |
probably benign |
Het |
| Polk |
T |
A |
13: 96,641,105 (GRCm39) |
M151L |
probably damaging |
Het |
| Ptprq |
C |
T |
10: 107,522,060 (GRCm39) |
|
probably benign |
Het |
| Reln |
G |
A |
5: 22,155,820 (GRCm39) |
A2224V |
probably damaging |
Het |
| Rmc1 |
T |
C |
18: 12,312,266 (GRCm39) |
S169P |
possibly damaging |
Het |
| Scart1 |
T |
G |
7: 139,807,808 (GRCm39) |
C660G |
probably damaging |
Het |
| Shroom1 |
A |
G |
11: 53,356,035 (GRCm39) |
T362A |
probably damaging |
Het |
| Smarcd2 |
A |
G |
11: 106,158,158 (GRCm39) |
|
probably null |
Het |
| Spg11 |
A |
C |
2: 121,896,713 (GRCm39) |
|
probably benign |
Het |
| Tcaf3 |
T |
A |
6: 42,566,761 (GRCm39) |
Y776F |
probably damaging |
Het |
| Thada |
A |
G |
17: 84,538,364 (GRCm39) |
V1548A |
probably damaging |
Het |
| Trpv2 |
C |
T |
11: 62,481,130 (GRCm39) |
P410S |
probably damaging |
Het |
| Ube2u |
G |
T |
4: 100,338,851 (GRCm39) |
E39* |
probably null |
Het |
| Ulbp3 |
A |
T |
10: 3,070,307 (GRCm39) |
|
noncoding transcript |
Het |
| Ulbp3 |
A |
G |
10: 3,075,788 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r2 |
C |
T |
3: 64,041,320 (GRCm39) |
|
probably null |
Het |
| Vmn2r24 |
TCC |
TC |
6: 123,792,369 (GRCm39) |
|
probably null |
Het |
| Wdr87-ps |
A |
T |
7: 29,235,007 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp110 |
A |
G |
7: 12,570,302 (GRCm39) |
Y43C |
probably damaging |
Het |
| Zfp605 |
A |
G |
5: 110,272,245 (GRCm39) |
T55A |
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 |
|
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 |
|
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 |
2013-04-24 |
Incidental Mutation