Incidental Mutation 'R7869:Pum2'
| ID |
607999 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pum2
|
| Ensembl Gene |
ENSMUSG00000020594 |
| Gene Name |
pumilio RNA-binding family member 2 |
| Synonyms |
Pumm2, 5730503J23Rik |
| MMRRC Submission |
045921-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7869 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
8724134-8802581 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 8763595 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 251
(T251A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131074
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020915]
[ENSMUST00000111122]
[ENSMUST00000111123]
[ENSMUST00000163569]
[ENSMUST00000163730]
[ENSMUST00000165293]
[ENSMUST00000166965]
[ENSMUST00000168361]
[ENSMUST00000169089]
[ENSMUST00000169750]
[ENSMUST00000170037]
[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 |
probably benign
Transcript: ENSMUST00000020915
AA Change: T251A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000020915
Gene: ENSMUSG00000020594
AA Change: T251A
| 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: T251A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000106751
Gene: ENSMUSG00000020594
AA Change: T251A
| 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: T251A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000106752
Gene: ENSMUSG00000020594
AA Change: T251A
| 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: T251A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000131074
Gene: ENSMUSG00000020594
AA Change: T251A
| 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 |
probably benign
Transcript: ENSMUST00000168361
AA Change: T251A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000128292
Gene: ENSMUSG00000020594
AA Change: T251A
| 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: T251A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000132122
Gene: ENSMUSG00000020594
AA Change: T251A
| 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: ENSMUST00000169750
AA Change: T251A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000126876
Gene: ENSMUSG00000020594
AA Change: T251A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
193 |
206 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170037
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171418
AA Change: T112A
PolyPhen 2
Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000126616
Gene: ENSMUSG00000020594
AA Change: T112A
| 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 |
probably benign
Transcript: ENSMUST00000178015
AA Change: T251A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000137020
Gene: ENSMUSG00000020594
AA Change: T251A
| 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: 99.7%
- 20x: 99.1%
|
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900026A02Rik |
G |
A |
5: 113,332,001 (GRCm39) |
R738C |
possibly damaging |
Het |
| Acot12 |
G |
A |
13: 91,919,844 (GRCm39) |
V260M |
probably benign |
Het |
| Alkbh8 |
A |
T |
9: 3,359,503 (GRCm39) |
H264L |
probably damaging |
Het |
| Arfgef2 |
C |
T |
2: 166,715,623 (GRCm39) |
T1356I |
probably damaging |
Het |
| Arhgap27 |
A |
T |
11: 103,251,130 (GRCm39) |
N199K |
probably damaging |
Het |
| Asic2 |
T |
C |
11: 81,858,824 (GRCm39) |
R63G |
probably damaging |
Het |
| Aspa |
T |
A |
11: 73,204,378 (GRCm39) |
M197L |
probably benign |
Het |
| BC005537 |
C |
T |
13: 24,987,382 (GRCm39) |
R7W |
possibly damaging |
Het |
| Brdt |
A |
T |
5: 107,518,045 (GRCm39) |
I723L |
probably benign |
Het |
| C2cd3 |
T |
A |
7: 100,118,698 (GRCm39) |
F2312Y |
probably damaging |
Het |
| Cd19 |
T |
C |
7: 126,009,698 (GRCm39) |
N456S |
probably damaging |
Het |
| Ceacam1 |
G |
T |
7: 25,175,954 (GRCm39) |
A80E |
probably damaging |
Het |
| Cep135 |
T |
C |
5: 76,788,803 (GRCm39) |
V1132A |
probably benign |
Het |
| Cep85 |
A |
G |
4: 133,859,609 (GRCm39) |
C687R |
probably damaging |
Het |
| Cln5 |
A |
G |
14: 103,313,501 (GRCm39) |
Y251C |
probably damaging |
Het |
| Crygc |
A |
G |
1: 65,111,014 (GRCm39) |
M91T |
possibly damaging |
Het |
| Ddt |
T |
C |
10: 75,609,060 (GRCm39) |
K33R |
probably damaging |
Het |
| Dhfr |
G |
A |
13: 92,494,471 (GRCm39) |
W58* |
probably null |
Het |
| Dhx40 |
T |
C |
11: 86,688,532 (GRCm39) |
E297G |
probably benign |
Het |
| Dner |
T |
C |
1: 84,361,602 (GRCm39) |
Y669C |
probably benign |
Het |
| Dpys |
G |
T |
15: 39,656,782 (GRCm39) |
F428L |
probably damaging |
Het |
| Dspp |
A |
C |
5: 104,323,531 (GRCm39) |
T225P |
probably damaging |
Het |
| Elac2 |
A |
G |
11: 64,890,213 (GRCm39) |
K656E |
probably damaging |
Het |
| Ern1 |
T |
A |
11: 106,349,845 (GRCm39) |
R24* |
probably null |
Het |
| F2rl2 |
T |
C |
13: 95,837,519 (GRCm39) |
I188T |
probably damaging |
Het |
| Fam83b |
C |
T |
9: 76,399,426 (GRCm39) |
C559Y |
possibly damaging |
Het |
| Fat1 |
T |
G |
8: 45,504,259 (GRCm39) |
F4584C |
probably benign |
Het |
| Gabra6 |
G |
A |
11: 42,207,322 (GRCm39) |
T254I |
possibly damaging |
Het |
| Garem1 |
T |
C |
18: 21,432,757 (GRCm39) |
D24G |
probably damaging |
Het |
| Gas2l2 |
A |
T |
11: 83,312,816 (GRCm39) |
L832* |
probably null |
Het |
| Gpr68 |
C |
T |
12: 100,845,497 (GRCm39) |
D16N |
probably benign |
Het |
| Il17b |
T |
C |
18: 61,825,480 (GRCm39) |
I172T |
probably damaging |
Het |
| Ildr2 |
T |
G |
1: 166,136,861 (GRCm39) |
S567A |
probably benign |
Het |
| Kalrn |
A |
G |
16: 33,809,217 (GRCm39) |
V2557A |
probably damaging |
Het |
| Kif1b |
A |
G |
4: 149,268,833 (GRCm39) |
S1627P |
probably benign |
Het |
| Kif5a |
G |
A |
10: 127,079,343 (GRCm39) |
T285M |
probably damaging |
Het |
| Lrif1 |
G |
A |
3: 106,640,459 (GRCm39) |
|
probably null |
Het |
| Lrrn2 |
C |
T |
1: 132,867,116 (GRCm39) |
T727I |
unknown |
Het |
| Lsg1 |
T |
C |
16: 30,383,540 (GRCm39) |
E560G |
probably benign |
Het |
| Map4k4 |
C |
A |
1: 40,013,204 (GRCm39) |
Q100K |
unknown |
Het |
| Mipep |
A |
T |
14: 61,040,385 (GRCm39) |
R302W |
probably damaging |
Het |
| Morf4l1 |
G |
T |
9: 89,975,844 (GRCm39) |
T316K |
probably damaging |
Het |
| Mov10 |
A |
T |
3: 104,711,994 (GRCm39) |
V126E |
probably damaging |
Het |
| Muc2 |
T |
A |
7: 141,303,471 (GRCm39) |
C559S |
|
Het |
| Myh7 |
A |
G |
14: 55,226,530 (GRCm39) |
Y410H |
probably damaging |
Het |
| Nf1 |
T |
A |
11: 79,309,414 (GRCm39) |
Y433N |
probably damaging |
Het |
| Nmd3 |
T |
C |
3: 69,633,750 (GRCm39) |
L79P |
probably damaging |
Het |
| Nol10 |
G |
T |
12: 17,408,239 (GRCm39) |
S155I |
probably null |
Het |
| Or2n1 |
T |
C |
17: 38,486,830 (GRCm39) |
L285P |
possibly damaging |
Het |
| Or4p8 |
T |
C |
2: 88,727,408 (GRCm39) |
I178V |
probably benign |
Het |
| Or52n2c |
T |
A |
7: 104,574,311 (GRCm39) |
Y220F |
probably damaging |
Het |
| Or5b12 |
A |
G |
19: 12,896,911 (GRCm39) |
I254T |
probably benign |
Het |
| Pde3b |
T |
C |
7: 114,093,922 (GRCm39) |
S389P |
probably benign |
Het |
| Polr1c |
C |
T |
17: 46,555,817 (GRCm39) |
G188D |
probably benign |
Het |
| Prpf31 |
A |
G |
7: 3,633,859 (GRCm39) |
M65V |
probably benign |
Het |
| Rabgap1 |
G |
A |
2: 37,377,142 (GRCm39) |
V325I |
probably benign |
Het |
| Repin1 |
G |
T |
6: 48,574,279 (GRCm39) |
E403* |
probably null |
Het |
| Rpl15 |
G |
T |
14: 18,269,017 (GRCm38) |
Y203* |
probably null |
Het |
| Sac3d1 |
G |
A |
19: 6,168,456 (GRCm39) |
P54L |
possibly damaging |
Het |
| Serpina3g |
A |
G |
12: 104,206,510 (GRCm39) |
I104V |
probably benign |
Het |
| Setd2 |
C |
T |
9: 110,379,082 (GRCm39) |
Q966* |
probably null |
Het |
| Simc1 |
G |
T |
13: 54,651,713 (GRCm39) |
D9Y |
unknown |
Het |
| Slc5a8 |
T |
C |
10: 88,757,567 (GRCm39) |
L519S |
probably benign |
Het |
| Srcap |
C |
A |
7: 127,138,366 (GRCm39) |
Q1179K |
possibly damaging |
Het |
| Srd5a3 |
T |
C |
5: 76,295,583 (GRCm39) |
L91P |
probably damaging |
Het |
| Stab1 |
T |
C |
14: 30,876,429 (GRCm39) |
T887A |
probably benign |
Het |
| Sult2a6 |
A |
G |
7: 13,988,737 (GRCm39) |
F8L |
not run |
Het |
| Thsd7a |
A |
T |
6: 12,471,123 (GRCm39) |
C498* |
probably null |
Het |
| Timp4 |
T |
C |
6: 115,227,355 (GRCm39) |
I75V |
probably benign |
Het |
| Tspyl4 |
T |
A |
10: 34,174,096 (GRCm39) |
M196K |
probably damaging |
Het |
| Ubr2 |
T |
C |
17: 47,301,934 (GRCm39) |
E172G |
probably benign |
Het |
| Ubr5 |
G |
A |
15: 37,980,076 (GRCm39) |
A2434V |
probably null |
Het |
| Unc13c |
T |
G |
9: 73,602,159 (GRCm39) |
L1362F |
probably damaging |
Het |
| Vmn2r11 |
A |
G |
5: 109,199,986 (GRCm39) |
V489A |
probably damaging |
Het |
| Vps39 |
T |
C |
2: 120,169,875 (GRCm39) |
T226A |
possibly damaging |
Het |
| Zan |
C |
T |
5: 137,471,863 (GRCm39) |
E185K |
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 |
|
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'- GCCTTGGCCCTAGTACTAATCC -3'
(R):5'- AGTCCTCTGAAAGAGCTATCCAG -3'
Sequencing Primer
(F):5'- ATCCCCCAGAAGGATTGGG -3'
(R):5'- ACATCGCAATTCTCATTAAAAAGC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation