Incidental Mutation 'R0856:Prl7c1'
ID |
82728 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Prl7c1
|
Ensembl Gene |
ENSMUSG00000060738 |
Gene Name |
prolactin family 7, subfamily c, member 1 |
Synonyms |
1600017N11Rik, Prlpo, PLP-O |
MMRRC Submission |
039035-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.056)
|
Stock # |
R0856 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
27957583-27964829 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 27957717 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 241
(I241T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000072712
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072943]
|
AlphaFold |
Q9CRB5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000072943
AA Change: I241T
PolyPhen 2
Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000072712 Gene: ENSMUSG00000060738 AA Change: I241T
Domain | Start | End | E-Value | Type |
Pfam:Hormone_1
|
17 |
242 |
8.1e-60 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 96.9%
- 20x: 93.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 23 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb11 |
A |
T |
2: 69,154,262 (GRCm39) |
S101R |
probably benign |
Het |
Arhgap32 |
C |
A |
9: 32,171,516 (GRCm39) |
P1432Q |
probably damaging |
Het |
Atp7b |
A |
G |
8: 22,487,647 (GRCm39) |
V1134A |
probably damaging |
Het |
Crtc3 |
A |
T |
7: 80,245,372 (GRCm39) |
Y418N |
probably damaging |
Het |
Cts8 |
A |
T |
13: 61,398,730 (GRCm39) |
Y259N |
probably damaging |
Het |
Defb39 |
T |
A |
8: 19,102,982 (GRCm39) |
T38S |
possibly damaging |
Het |
Depdc7 |
A |
G |
2: 104,558,437 (GRCm39) |
S195P |
probably benign |
Het |
Gykl1 |
T |
A |
18: 52,828,441 (GRCm39) |
*550K |
probably null |
Het |
Kcnip4 |
A |
G |
5: 48,576,552 (GRCm39) |
|
probably null |
Het |
Kif20a |
T |
C |
18: 34,764,271 (GRCm39) |
S666P |
probably benign |
Het |
Klhl32 |
T |
C |
4: 24,682,092 (GRCm39) |
D197G |
probably damaging |
Het |
Men1 |
A |
G |
19: 6,385,888 (GRCm39) |
Y133C |
probably damaging |
Het |
Mtnr1a |
A |
G |
8: 45,540,870 (GRCm39) |
E277G |
possibly damaging |
Het |
Numa1 |
C |
A |
7: 101,648,155 (GRCm39) |
Q629K |
probably damaging |
Het |
Or2a52 |
T |
C |
6: 43,144,345 (GRCm39) |
S118P |
probably damaging |
Het |
P3h3 |
G |
T |
6: 124,831,896 (GRCm39) |
D296E |
probably benign |
Het |
Prr35 |
T |
C |
17: 26,167,001 (GRCm39) |
S179G |
probably benign |
Het |
Rp1 |
T |
C |
1: 4,414,878 (GRCm39) |
E2078G |
probably benign |
Het |
Septin8 |
A |
G |
11: 53,428,697 (GRCm39) |
H414R |
probably benign |
Het |
Tbx20 |
A |
G |
9: 24,636,908 (GRCm39) |
M393T |
probably benign |
Het |
Upf2 |
A |
G |
2: 5,962,463 (GRCm39) |
D55G |
unknown |
Het |
Vit |
G |
T |
17: 78,927,086 (GRCm39) |
V344L |
possibly damaging |
Het |
Vps26a |
A |
C |
10: 62,304,189 (GRCm39) |
V176G |
possibly damaging |
Het |
|
Other mutations in Prl7c1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01388:Prl7c1
|
APN |
13 |
27,960,198 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03096:Prl7c1
|
APN |
13 |
27,957,689 (GRCm39) |
missense |
probably damaging |
0.96 |
PIT4458001:Prl7c1
|
UTSW |
13 |
27,957,741 (GRCm39) |
missense |
probably benign |
|
R0566:Prl7c1
|
UTSW |
13 |
27,962,961 (GRCm39) |
missense |
probably damaging |
1.00 |
R0908:Prl7c1
|
UTSW |
13 |
27,957,717 (GRCm39) |
missense |
possibly damaging |
0.84 |
R1585:Prl7c1
|
UTSW |
13 |
27,962,838 (GRCm39) |
missense |
probably damaging |
0.99 |
R4193:Prl7c1
|
UTSW |
13 |
27,960,261 (GRCm39) |
missense |
probably benign |
0.01 |
R4628:Prl7c1
|
UTSW |
13 |
27,962,065 (GRCm39) |
missense |
probably benign |
|
R4728:Prl7c1
|
UTSW |
13 |
27,960,268 (GRCm39) |
missense |
probably benign |
0.00 |
R4873:Prl7c1
|
UTSW |
13 |
27,957,742 (GRCm39) |
missense |
probably benign |
0.01 |
R4875:Prl7c1
|
UTSW |
13 |
27,957,742 (GRCm39) |
missense |
probably benign |
0.01 |
R5714:Prl7c1
|
UTSW |
13 |
27,962,949 (GRCm39) |
nonsense |
probably null |
|
R6353:Prl7c1
|
UTSW |
13 |
27,957,709 (GRCm39) |
missense |
possibly damaging |
0.64 |
R6505:Prl7c1
|
UTSW |
13 |
27,957,776 (GRCm39) |
missense |
probably damaging |
1.00 |
R6878:Prl7c1
|
UTSW |
13 |
27,962,827 (GRCm39) |
missense |
possibly damaging |
0.66 |
R7104:Prl7c1
|
UTSW |
13 |
27,962,952 (GRCm39) |
nonsense |
probably null |
|
R7879:Prl7c1
|
UTSW |
13 |
27,962,817 (GRCm39) |
missense |
probably damaging |
1.00 |
R7896:Prl7c1
|
UTSW |
13 |
27,962,070 (GRCm39) |
missense |
possibly damaging |
0.86 |
R8828:Prl7c1
|
UTSW |
13 |
27,957,854 (GRCm39) |
missense |
probably benign |
0.14 |
R9142:Prl7c1
|
UTSW |
13 |
27,964,751 (GRCm39) |
start gained |
probably benign |
|
R9215:Prl7c1
|
UTSW |
13 |
27,960,204 (GRCm39) |
missense |
probably benign |
0.32 |
R9296:Prl7c1
|
UTSW |
13 |
27,962,812 (GRCm39) |
missense |
probably benign |
0.06 |
R9453:Prl7c1
|
UTSW |
13 |
27,957,870 (GRCm39) |
missense |
probably benign |
0.44 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTCGCAATGAAGAGACTTCCCAC -3'
(R):5'- TGGAATGGAGGAGAATACTGACTACCC -3'
Sequencing Primer
(F):5'- ACAAGTTGGCATCACCTGTG -3'
(R):5'- GGAGAATACTGACTACCCTTTATGG -3'
|
Posted On |
2013-11-08 |