Incidental Mutation 'PIT4618001:Paqr3'
| ID |
555688 |
| Institutional Source |
Beutler Lab
|
| 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 # |
PIT4618001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
97230188-97259455 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 97251330 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 131
(H131Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000069324
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069453]
[ENSMUST00000112968]
[ENSMUST00000112969]
[ENSMUST00000196078]
|
| AlphaFold |
Q6TCG8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000069453
AA Change: H131Q
PolyPhen 2
Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000069324
Gene: ENSMUSG00000055725
AA Change: H131Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HlyIII
|
64 |
289 |
3.4e-47 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112968
AA Change: H131Q
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000108592
Gene: ENSMUSG00000055725
AA Change: H131Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HlyIII
|
64 |
171 |
1.5e-26 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000112969
AA Change: H131Q
PolyPhen 2
Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000108593
Gene: ENSMUSG00000055725
AA Change: H131Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HlyIII
|
64 |
289 |
1.4e-51 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000196078
AA Change: H131Q
PolyPhen 2
Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000142871
Gene: ENSMUSG00000055725
AA Change: H131Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HlyIII
|
64 |
179 |
7e-24 |
PFAM |
|
transmembrane domain
|
181 |
203 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 93.4%
- 3x: 91.0%
- 10x: 85.9%
- 20x: 75.2%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700028K03Rik |
A |
T |
5: 107,693,575 (GRCm39) |
D64V |
probably damaging |
Het |
| Ankdd1a |
A |
C |
9: 65,414,932 (GRCm39) |
I268S |
possibly damaging |
Het |
| Atad3a |
C |
T |
4: 155,834,595 (GRCm39) |
R402Q |
probably benign |
Het |
| C3ar1 |
A |
G |
6: 122,827,746 (GRCm39) |
V157A |
probably benign |
Het |
| Cd200l1 |
A |
G |
16: 45,264,297 (GRCm39) |
F87S |
probably benign |
Het |
| Cd55 |
C |
T |
1: 130,384,606 (GRCm39) |
V206I |
probably benign |
Het |
| Cd8a |
A |
G |
6: 71,350,661 (GRCm39) |
D42G |
possibly damaging |
Het |
| Cemip |
G |
T |
7: 83,593,147 (GRCm39) |
F1185L |
probably benign |
Het |
| Cfap58 |
A |
G |
19: 47,963,953 (GRCm39) |
D527G |
probably damaging |
Het |
| Cyp2a12 |
C |
A |
7: 26,734,198 (GRCm39) |
S377Y |
probably benign |
Het |
| Dapk2 |
A |
G |
9: 66,175,968 (GRCm39) |
D289G |
probably benign |
Het |
| Efcab6 |
G |
A |
15: 83,867,647 (GRCm39) |
A277V |
probably benign |
Het |
| Ephx2 |
A |
T |
14: 66,339,671 (GRCm39) |
F250L |
probably damaging |
Het |
| Flg2 |
A |
T |
3: 93,111,088 (GRCm39) |
S1039C |
unknown |
Het |
| Gramd1a |
A |
G |
7: 30,832,021 (GRCm39) |
V674A |
probably benign |
Het |
| Gtf2a1 |
A |
C |
12: 91,534,543 (GRCm39) |
V237G |
probably benign |
Het |
| I830077J02Rik |
G |
A |
3: 105,833,886 (GRCm39) |
T90M |
probably damaging |
Het |
| Jagn1 |
T |
A |
6: 113,424,398 (GRCm39) |
L90H |
probably damaging |
Het |
| Mdn1 |
G |
T |
4: 32,746,527 (GRCm39) |
A4158S |
probably benign |
Het |
| Myh11 |
G |
A |
16: 14,018,930 (GRCm39) |
A1839V |
|
Het |
| Olr1 |
G |
A |
6: 129,476,869 (GRCm39) |
A132V |
probably damaging |
Het |
| Pde4b |
A |
T |
4: 102,460,009 (GRCm39) |
T397S |
probably benign |
Het |
| Pon1 |
A |
G |
6: 5,168,349 (GRCm39) |
C353R |
probably damaging |
Het |
| Ppie |
G |
A |
4: 123,032,661 (GRCm39) |
T43I |
probably null |
Het |
| Prr5l |
A |
G |
2: 101,588,875 (GRCm39) |
F92L |
probably damaging |
Het |
| Rai14 |
T |
C |
15: 10,575,242 (GRCm39) |
Y601C |
probably damaging |
Het |
| Rasal1 |
A |
G |
5: 120,808,441 (GRCm39) |
D491G |
probably damaging |
Het |
| Rbm12b1 |
T |
A |
4: 12,145,441 (GRCm39) |
V471E |
probably damaging |
Het |
| Rpusd2 |
T |
C |
2: 118,868,933 (GRCm39) |
L452P |
possibly damaging |
Het |
| Scgb2b24 |
A |
T |
7: 33,438,036 (GRCm39) |
C24S |
probably damaging |
Het |
| Slc17a5 |
C |
T |
9: 78,445,530 (GRCm39) |
V468M |
possibly damaging |
Het |
| Tcp10c |
A |
G |
17: 13,576,772 (GRCm39) |
K117R |
possibly damaging |
Het |
| Ubash3b |
A |
G |
9: 40,927,923 (GRCm39) |
S584P |
probably benign |
Het |
| Vps13b |
C |
T |
15: 35,709,386 (GRCm39) |
R1778C |
probably damaging |
Het |
| Ythdc2 |
A |
G |
18: 44,967,665 (GRCm39) |
I220M |
probably benign |
Het |
| Zfp474 |
C |
A |
18: 52,771,476 (GRCm39) |
T43K |
probably damaging |
Het |
| Zscan4-ps3 |
G |
A |
7: 11,347,261 (GRCm39) |
M432I |
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 |
|
|
IGL01966:Paqr3
|
APN |
5 |
97,247,502 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL02133:Paqr3
|
APN |
5 |
97,243,790 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTAAACCAGTGCAAGAAGCCC -3'
(R):5'- ACTGGTGAACTCGTGAACCTG -3'
Sequencing Primer
(F):5'- GTGCAAGAAGCCCCAAATCCTATC -3'
(R):5'- TCGTGAACCTGACATCAGTG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation