Incidental Mutation 'R8802:Pum2'
| ID |
671572 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pum2
|
| Ensembl Gene |
ENSMUSG00000020594 |
| Gene Name |
pumilio RNA-binding family member 2 |
| Synonyms |
Pumm2, 5730503J23Rik |
| MMRRC Submission |
068639-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8802 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
8724134-8802581 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 8778726 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 459
(R459*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137020
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020915]
[ENSMUST00000111122]
[ENSMUST00000111123]
[ENSMUST00000163569]
[ENSMUST00000165293]
[ENSMUST00000168361]
[ENSMUST00000169089]
[ENSMUST00000178015]
|
| AlphaFold |
Q80U58 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000020915
AA Change: R454*
|
| SMART Domains |
Protein: ENSMUSP00000020915
Gene: ENSMUSG00000020594
AA Change: R454*
| 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 null
Transcript: ENSMUST00000111122
AA Change: R459*
|
| SMART Domains |
Protein: ENSMUSP00000106751
Gene: ENSMUSG00000020594
AA Change: R459*
| 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 null
Transcript: ENSMUST00000111123
AA Change: R459*
|
| SMART Domains |
Protein: ENSMUSP00000106752
Gene: ENSMUSG00000020594
AA Change: R459*
| 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 null
Transcript: ENSMUST00000163569
AA Change: R459*
|
| SMART Domains |
Protein: ENSMUSP00000131074
Gene: ENSMUSG00000020594
AA Change: R459*
| 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: ENSMUST00000164818
|
| SMART Domains |
Protein: ENSMUSP00000129243
Gene: ENSMUSG00000020594
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
42 |
N/A |
INTRINSIC |
|
Pumilio
|
75 |
110 |
2.35e-7 |
SMART |
|
Pumilio
|
111 |
139 |
1.58e1 |
SMART |
|
Pumilio
|
140 |
175 |
3.37e-8 |
SMART |
|
Pumilio
|
176 |
211 |
4.84e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165293
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000168361
AA Change: R459*
|
| SMART Domains |
Protein: ENSMUSP00000128292
Gene: ENSMUSG00000020594
AA Change: R459*
| 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 null
Transcript: ENSMUST00000169089
AA Change: R459*
|
| SMART Domains |
Protein: ENSMUSP00000132122
Gene: ENSMUSG00000020594
AA Change: R459*
| 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 null
Transcript: ENSMUST00000178015
AA Change: R459*
|
| SMART Domains |
Protein: ENSMUSP00000137020
Gene: ENSMUSG00000020594
AA Change: R459*
| 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 |
|
| Meta Mutation Damage Score |
0.9756 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900092C05Rik |
A |
G |
7: 12,249,415 (GRCm39) |
T83A |
possibly damaging |
Het |
| Abcc6 |
A |
G |
7: 45,658,283 (GRCm39) |
L451P |
probably damaging |
Het |
| Ak5 |
T |
C |
3: 152,321,631 (GRCm39) |
E252G |
probably damaging |
Het |
| Atg4a-ps |
T |
A |
3: 103,552,686 (GRCm39) |
K218N |
probably damaging |
Het |
| Bglap2 |
T |
A |
3: 88,285,568 (GRCm39) |
M35L |
probably benign |
Het |
| Bicral |
A |
G |
17: 47,135,626 (GRCm39) |
M528T |
probably benign |
Het |
| Cdh23 |
A |
G |
10: 60,244,877 (GRCm39) |
V1008A |
probably benign |
Het |
| Chil6 |
A |
T |
3: 106,312,208 (GRCm39) |
L31Q |
probably damaging |
Het |
| Ctnnd2 |
T |
C |
15: 30,967,022 (GRCm39) |
V991A |
probably damaging |
Het |
| Dcc |
T |
C |
18: 71,959,125 (GRCm39) |
N216D |
probably damaging |
Het |
| Dcdc2c |
T |
A |
12: 28,576,720 (GRCm39) |
D106V |
probably benign |
Het |
| Dchs2 |
T |
C |
3: 83,253,544 (GRCm39) |
I2318T |
probably benign |
Het |
| Fat2 |
A |
G |
11: 55,173,750 (GRCm39) |
F2321S |
possibly damaging |
Het |
| Fbxw7 |
T |
C |
3: 84,859,693 (GRCm39) |
V5A |
unknown |
Het |
| Fn3krp |
T |
C |
11: 121,315,813 (GRCm39) |
V68A |
probably damaging |
Het |
| Gcn1 |
T |
C |
5: 115,747,942 (GRCm39) |
L1783P |
probably damaging |
Het |
| Gdf6 |
C |
T |
4: 9,844,769 (GRCm39) |
H98Y |
probably damaging |
Het |
| Gm13271 |
C |
A |
4: 88,673,247 (GRCm39) |
P48Q |
probably damaging |
Het |
| Gm4871 |
A |
T |
5: 144,966,876 (GRCm39) |
N202K |
probably benign |
Het |
| Gucy1a2 |
G |
A |
9: 3,635,050 (GRCm39) |
V365I |
probably benign |
Het |
| Hadhb |
C |
T |
5: 30,378,831 (GRCm39) |
Q157* |
probably null |
Het |
| Hivep2 |
C |
T |
10: 14,015,166 (GRCm39) |
R1778C |
probably damaging |
Het |
| Hmcn2 |
T |
A |
2: 31,301,288 (GRCm39) |
V2845E |
probably damaging |
Het |
| Hps3 |
T |
A |
3: 20,074,070 (GRCm39) |
I431L |
probably damaging |
Het |
| Idh1 |
CA |
CAA |
1: 65,204,347 (GRCm39) |
|
probably null |
Het |
| Igkv12-38 |
A |
T |
6: 69,920,390 (GRCm39) |
C43S |
probably damaging |
Het |
| Jph2 |
T |
A |
2: 163,239,184 (GRCm39) |
H88L |
probably damaging |
Het |
| Kmt2b |
G |
A |
7: 30,283,496 (GRCm39) |
R955W |
probably damaging |
Het |
| Lrrc4c |
A |
G |
2: 97,460,603 (GRCm39) |
T410A |
possibly damaging |
Het |
| Ltf |
C |
T |
9: 110,850,018 (GRCm39) |
P14S |
probably benign |
Het |
| Mapk8ip3 |
G |
A |
17: 25,124,206 (GRCm39) |
R521C |
probably damaging |
Het |
| Nampt |
C |
A |
12: 32,900,435 (GRCm39) |
T460K |
probably benign |
Het |
| Nek9 |
T |
C |
12: 85,374,192 (GRCm39) |
I282V |
probably benign |
Het |
| Ninl |
A |
T |
2: 150,777,172 (GRCm39) |
V1394E |
probably damaging |
Het |
| Obox6 |
G |
A |
7: 15,567,772 (GRCm39) |
S225L |
probably damaging |
Het |
| Or6k4 |
A |
G |
1: 173,964,616 (GRCm39) |
Y102C |
probably damaging |
Het |
| Pcdha4 |
A |
G |
18: 37,087,211 (GRCm39) |
K465E |
possibly damaging |
Het |
| Pex11g |
T |
C |
8: 3,507,308 (GRCm39) |
K151R |
unknown |
Het |
| Pld2 |
T |
C |
11: 70,446,824 (GRCm39) |
L811P |
probably damaging |
Het |
| Ralgapa1 |
T |
C |
12: 55,785,101 (GRCm39) |
S720G |
probably damaging |
Het |
| Rbbp6 |
T |
A |
7: 122,587,680 (GRCm39) |
|
probably benign |
Het |
| Rbl1 |
A |
G |
2: 157,038,073 (GRCm39) |
|
probably null |
Het |
| Reln |
G |
T |
5: 22,130,257 (GRCm39) |
R2685S |
probably damaging |
Het |
| Rnf213 |
T |
C |
11: 119,352,928 (GRCm39) |
F3942L |
|
Het |
| Rpusd2 |
T |
C |
2: 118,865,378 (GRCm39) |
V25A |
probably benign |
Het |
| Rusc1 |
T |
A |
3: 88,999,540 (GRCm39) |
I81L |
probably benign |
Het |
| Serpinb9b |
A |
G |
13: 33,213,587 (GRCm39) |
E48G |
probably benign |
Het |
| Skil |
C |
T |
3: 31,167,592 (GRCm39) |
P408L |
probably damaging |
Het |
| Slc17a4 |
A |
G |
13: 24,089,274 (GRCm39) |
W186R |
probably damaging |
Het |
| Syvn1 |
T |
C |
19: 6,097,968 (GRCm39) |
F2S |
probably benign |
Het |
| Tmc6 |
T |
C |
11: 117,665,901 (GRCm39) |
M338V |
possibly damaging |
Het |
| Tnfrsf17 |
A |
T |
16: 11,137,819 (GRCm39) |
R185S |
possibly damaging |
Het |
| Utp20 |
T |
C |
10: 88,583,157 (GRCm39) |
K2732R |
probably damaging |
Het |
| Vmn1r58 |
A |
T |
7: 5,414,080 (GRCm39) |
V50E |
probably damaging |
Het |
| Vmn2r114 |
T |
A |
17: 23,528,836 (GRCm39) |
D422V |
possibly damaging |
Het |
| Vmn2r83 |
A |
T |
10: 79,314,261 (GRCm39) |
I170F |
probably benign |
Het |
| Xdh |
C |
T |
17: 74,225,405 (GRCm39) |
V466I |
probably benign |
Het |
| Xndc1 |
A |
G |
7: 101,720,539 (GRCm39) |
I6V |
possibly damaging |
Het |
| Zbtb38 |
T |
C |
9: 96,567,623 (GRCm39) |
T1154A |
probably benign |
Het |
| Zfp160 |
T |
A |
17: 21,246,867 (GRCm39) |
H472Q |
probably damaging |
Het |
| Zfp438 |
T |
A |
18: 5,213,417 (GRCm39) |
T514S |
possibly 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 |
|
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 |
|
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'- ACTTAGTTCTTGGAAGCCTATAGC -3'
(R):5'- CCATTTGTGCTGCCTGTAAG -3'
Sequencing Primer
(F):5'- AAATACCTCAGATGTGGTTTTTCC -3'
(R):5'- CTGCCTGTAAGACTATTTGCAG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation