Incidental Mutation 'IGL01966:Paqr3'
| ID |
181548 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Paqr3
|
| Ensembl Gene |
ENSMUSG00000055725 |
| Gene Name |
progestin and adipoQ receptor family member III |
| Synonyms |
6330415A20Rik, RKTG |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.119)
|
| Stock # |
IGL01966
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
97230188-97259455 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 97247502 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 202
(L202P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108593
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069453]
[ENSMUST00000112968]
[ENSMUST00000112969]
[ENSMUST00000196078]
|
| AlphaFold |
Q6TCG8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069453
AA Change: L202P
PolyPhen 2
Score 0.213 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000069324
Gene: ENSMUSG00000055725
AA Change: L202P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HlyIII
|
64 |
289 |
3.4e-47 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112968
|
| SMART Domains |
Protein: ENSMUSP00000108592
Gene: ENSMUSG00000055725
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HlyIII
|
64 |
171 |
1.5e-26 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112969
AA Change: L202P
PolyPhen 2
Score 0.213 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000108593
Gene: ENSMUSG00000055725
AA Change: L202P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HlyIII
|
64 |
289 |
1.4e-51 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126585
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132127
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196078
AA Change: L181P
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000142871
Gene: ENSMUSG00000055725
AA Change: L181P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HlyIII
|
64 |
179 |
7e-24 |
PFAM |
|
transmembrane domain
|
181 |
203 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Targeted deletion of this gene causes faster chemical carcinogen-induced skin cell proliferation, higher epidermal thickness, increased number and size of skin papillomas, shorter tumor latency and delayed tumor regression. Heterozygotes develop tumors earlier and more frequently than control mice. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1500002C15Rik |
A |
G |
4: 155,818,526 (GRCm39) |
|
probably null |
Het |
| Acer2 |
T |
A |
4: 86,835,815 (GRCm39) |
*230R |
probably null |
Het |
| Adamts12 |
A |
G |
15: 11,258,269 (GRCm39) |
K527E |
probably damaging |
Het |
| Anks1b |
C |
A |
10: 90,730,994 (GRCm39) |
R937S |
probably damaging |
Het |
| C2cd5 |
G |
T |
6: 142,957,767 (GRCm39) |
C989* |
probably null |
Het |
| Calhm5 |
T |
C |
10: 33,972,129 (GRCm39) |
H102R |
probably benign |
Het |
| Col14a1 |
A |
G |
15: 55,312,121 (GRCm39) |
|
probably benign |
Het |
| Cramp1 |
T |
A |
17: 25,201,917 (GRCm39) |
T522S |
probably benign |
Het |
| Cyp2c70 |
A |
T |
19: 40,142,016 (GRCm39) |
|
probably benign |
Het |
| Elmod1 |
T |
A |
9: 53,828,611 (GRCm39) |
I224F |
probably benign |
Het |
| Emx2 |
T |
A |
19: 59,448,021 (GRCm39) |
I24N |
possibly damaging |
Het |
| Fga |
A |
T |
3: 82,936,461 (GRCm39) |
I86F |
probably damaging |
Het |
| Fig4 |
C |
A |
10: 41,108,098 (GRCm39) |
|
probably null |
Het |
| Gm10234 |
T |
C |
6: 95,299,118 (GRCm39) |
|
probably null |
Het |
| Gm12588 |
A |
T |
11: 121,797,561 (GRCm39) |
I96N |
probably benign |
Het |
| Grm3 |
A |
G |
5: 9,561,486 (GRCm39) |
I788T |
probably damaging |
Het |
| Homer3 |
A |
G |
8: 70,742,807 (GRCm39) |
K173E |
probably damaging |
Het |
| Kansl1l |
A |
G |
1: 66,777,227 (GRCm39) |
V635A |
probably damaging |
Het |
| Kctd3 |
C |
T |
1: 188,724,859 (GRCm39) |
G241R |
probably damaging |
Het |
| Krt8 |
G |
T |
15: 101,906,105 (GRCm39) |
S423R |
probably benign |
Het |
| Lrrc24 |
C |
A |
15: 76,602,511 (GRCm39) |
A125S |
probably benign |
Het |
| Muc4 |
T |
C |
16: 32,570,244 (GRCm39) |
S435P |
possibly damaging |
Het |
| Nfkb2 |
G |
A |
19: 46,298,129 (GRCm39) |
G502D |
probably benign |
Het |
| Nlrp6 |
G |
A |
7: 140,505,103 (GRCm39) |
C750Y |
probably damaging |
Het |
| Or8b1b |
A |
T |
9: 38,376,225 (GRCm39) |
D296V |
possibly damaging |
Het |
| Oxsm |
T |
C |
14: 16,242,520 (GRCm38) |
N83S |
probably benign |
Het |
| Pcdh10 |
T |
A |
3: 45,334,733 (GRCm39) |
L349Q |
probably benign |
Het |
| Ptdss2 |
A |
G |
7: 140,715,304 (GRCm39) |
T29A |
possibly damaging |
Het |
| Rbbp8nl |
G |
A |
2: 179,922,782 (GRCm39) |
|
probably benign |
Het |
| Rc3h2 |
A |
G |
2: 37,272,789 (GRCm39) |
|
probably benign |
Het |
| Ric1 |
A |
T |
19: 29,572,963 (GRCm39) |
Y801F |
probably benign |
Het |
| Sgcz |
A |
T |
8: 38,107,169 (GRCm39) |
S114R |
probably damaging |
Het |
| Tenm4 |
A |
G |
7: 96,202,757 (GRCm39) |
D124G |
probably damaging |
Het |
| Zscan22 |
T |
G |
7: 12,640,398 (GRCm39) |
M214R |
probably benign |
Het |
|
| Other mutations in Paqr3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01459:Paqr3
|
APN |
5 |
97,243,796 (GRCm39) |
missense |
probably benign |
|
|
IGL02133:Paqr3
|
APN |
5 |
97,243,790 (GRCm39) |
missense |
probably benign |
|
|
PIT4618001:Paqr3
|
UTSW |
5 |
97,251,330 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1601:Paqr3
|
UTSW |
5 |
97,259,248 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2864:Paqr3
|
UTSW |
5 |
97,247,595 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R3419:Paqr3
|
UTSW |
5 |
97,247,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3799:Paqr3
|
UTSW |
5 |
97,259,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4352:Paqr3
|
UTSW |
5 |
97,247,455 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4368:Paqr3
|
UTSW |
5 |
97,256,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4515:Paqr3
|
UTSW |
5 |
97,251,220 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R4583:Paqr3
|
UTSW |
5 |
97,256,069 (GRCm39) |
nonsense |
probably null |
|
|
R4647:Paqr3
|
UTSW |
5 |
97,256,069 (GRCm39) |
nonsense |
probably null |
|
|
R4648:Paqr3
|
UTSW |
5 |
97,256,069 (GRCm39) |
nonsense |
probably null |
|
|
R4811:Paqr3
|
UTSW |
5 |
97,243,842 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4855:Paqr3
|
UTSW |
5 |
97,256,053 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5910:Paqr3
|
UTSW |
5 |
97,243,887 (GRCm39) |
splice site |
probably null |
|
|
R6053:Paqr3
|
UTSW |
5 |
97,259,137 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6156:Paqr3
|
UTSW |
5 |
97,256,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6957:Paqr3
|
UTSW |
5 |
97,256,110 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R6974:Paqr3
|
UTSW |
5 |
97,256,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9201:Paqr3
|
UTSW |
5 |
97,245,365 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
| Posted On |
2014-05-07 |
Incidental Mutation