Incidental Mutation 'R0908:Prl7c1'
| ID |
83401 |
| 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 |
039066-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R0908 (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: 99.4%
- 3x: 98.9%
- 10x: 97.4%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
T |
A |
3: 137,775,838 (GRCm39) |
F1676I |
probably damaging |
Het |
| Afg2a |
T |
A |
3: 37,485,772 (GRCm39) |
|
probably null |
Het |
| Atp8a2 |
T |
C |
14: 60,097,719 (GRCm39) |
K770E |
probably benign |
Het |
| Atp8b3 |
T |
C |
10: 80,355,918 (GRCm39) |
T1265A |
probably benign |
Het |
| Cep112 |
T |
C |
11: 108,555,323 (GRCm39) |
V679A |
possibly damaging |
Het |
| Cts8 |
A |
T |
13: 61,398,730 (GRCm39) |
Y259N |
probably damaging |
Het |
| Depdc7 |
A |
G |
2: 104,558,437 (GRCm39) |
S195P |
probably benign |
Het |
| Dio2 |
A |
T |
12: 90,696,422 (GRCm39) |
C189S |
probably damaging |
Het |
| Dmc1 |
A |
G |
15: 79,469,890 (GRCm39) |
L189P |
probably damaging |
Het |
| Ehmt1 |
A |
G |
2: 24,694,900 (GRCm39) |
Y1016H |
probably damaging |
Het |
| Gle1 |
T |
C |
2: 29,826,133 (GRCm39) |
S71P |
probably benign |
Het |
| Gykl1 |
T |
A |
18: 52,828,441 (GRCm39) |
*550K |
probably null |
Het |
| Klhl32 |
T |
C |
4: 24,682,092 (GRCm39) |
D197G |
probably damaging |
Het |
| Krt78 |
G |
A |
15: 101,859,336 (GRCm39) |
T287M |
probably damaging |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Mrpl1 |
A |
T |
5: 96,409,942 (GRCm39) |
I272L |
probably benign |
Het |
| Naip2 |
T |
C |
13: 100,298,362 (GRCm39) |
E558G |
probably benign |
Het |
| Naip2 |
C |
T |
13: 100,298,368 (GRCm39) |
G556D |
probably benign |
Het |
| Or52e19 |
T |
C |
7: 102,959,780 (GRCm39) |
V284A |
possibly damaging |
Het |
| Or8g23 |
T |
C |
9: 38,971,243 (GRCm39) |
T240A |
probably damaging |
Het |
| Pak3 |
TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
X: 142,526,889 (GRCm39) |
|
probably benign |
Het |
| Pde5a |
A |
T |
3: 122,572,650 (GRCm39) |
I344L |
probably benign |
Het |
| Rp1 |
T |
C |
1: 4,414,878 (GRCm39) |
E2078G |
probably benign |
Het |
| Scamp3 |
T |
C |
3: 89,086,746 (GRCm39) |
|
probably null |
Het |
| Septin8 |
A |
G |
11: 53,428,697 (GRCm39) |
H414R |
probably benign |
Het |
| Spef2 |
T |
A |
15: 9,614,281 (GRCm39) |
|
probably null |
Het |
| Txlnb |
A |
G |
10: 17,674,925 (GRCm39) |
N26S |
probably damaging |
Het |
| Vmn1r11 |
G |
T |
6: 57,115,049 (GRCm39) |
V201L |
probably 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 |
|
R0856: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 |
Incidental Mutation