Incidental Mutation 'R9465:Prl2c5'
| ID |
715135 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prl2c5
|
| Ensembl Gene |
ENSMUSG00000055360 |
| Gene Name |
prolactin family 2, subfamily c, member 5 |
| Synonyms |
MRP-4, Mrpplf4, PLF-4 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.086)
|
| Stock # |
R9465 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
13357300-13366508 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 13360531 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 66
(S66L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115024
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021778]
[ENSMUST00000126540]
[ENSMUST00000151144]
|
| AlphaFold |
Q9JLV9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021778
AA Change: S63L
PolyPhen 2
Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000021778
Gene: ENSMUSG00000055360
AA Change: S63L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hormone_1
|
16 |
222 |
2.7e-70 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126540
AA Change: S66L
PolyPhen 2
Score 0.424 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000115024
Gene: ENSMUSG00000055360
AA Change: S66L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hormone_1
|
19 |
225 |
1.5e-73 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151144
AA Change: S63L
PolyPhen 2
Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000117522
Gene: ENSMUSG00000055360
AA Change: S63L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hormone_1
|
16 |
172 |
3.5e-51 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427I04Rik |
A |
C |
4: 123,754,317 (GRCm39) |
H77P |
possibly damaging |
Het |
| Adcy7 |
G |
T |
8: 89,046,778 (GRCm39) |
R587L |
probably benign |
Het |
| Arih2 |
C |
G |
9: 108,488,938 (GRCm39) |
R260P |
probably damaging |
Het |
| Atg4a-ps |
C |
T |
3: 103,553,101 (GRCm39) |
R80H |
probably damaging |
Het |
| Btd |
G |
A |
14: 31,389,643 (GRCm39) |
D455N |
probably benign |
Het |
| Cadps |
A |
G |
14: 12,489,002 (GRCm38) |
S852P |
possibly damaging |
Het |
| Creb3l1 |
C |
T |
2: 91,822,231 (GRCm39) |
|
probably null |
Het |
| Cyp2j5 |
T |
C |
4: 96,522,551 (GRCm39) |
D341G |
probably damaging |
Het |
| Dennd5b |
A |
G |
6: 148,908,260 (GRCm39) |
V1011A |
probably damaging |
Het |
| Dlgap2 |
G |
A |
8: 14,828,226 (GRCm39) |
E545K |
probably damaging |
Het |
| Dnah8 |
CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT |
CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT |
17: 30,979,841 (GRCm39) |
|
probably null |
Het |
| Gigyf2 |
A |
G |
1: 87,334,775 (GRCm39) |
D262G |
unknown |
Het |
| Gstm3 |
T |
C |
3: 107,873,431 (GRCm39) |
N180S |
possibly damaging |
Het |
| Helz2 |
G |
T |
2: 180,874,710 (GRCm39) |
T1928K |
probably benign |
Het |
| Hipk4 |
T |
A |
7: 27,229,160 (GRCm39) |
S537T |
probably benign |
Het |
| Il18rap |
C |
T |
1: 40,582,177 (GRCm39) |
T366M |
probably benign |
Het |
| Il24 |
T |
C |
1: 130,813,462 (GRCm39) |
Q45R |
probably benign |
Het |
| Kcnh1 |
G |
A |
1: 191,924,233 (GRCm39) |
G149E |
probably damaging |
Het |
| Krtap4-2 |
A |
G |
11: 99,525,391 (GRCm39) |
S154P |
unknown |
Het |
| Marveld3 |
T |
A |
8: 110,688,525 (GRCm39) |
H72L |
possibly damaging |
Het |
| Med1 |
T |
C |
11: 98,049,144 (GRCm39) |
T551A |
probably benign |
Het |
| Mtor |
T |
A |
4: 148,624,839 (GRCm39) |
I2150N |
possibly damaging |
Het |
| Ninl |
A |
G |
2: 150,782,726 (GRCm39) |
S170P |
possibly damaging |
Het |
| Or1j14 |
T |
C |
2: 36,417,898 (GRCm39) |
V158A |
probably benign |
Het |
| Or6aa1 |
T |
C |
7: 86,043,864 (GRCm39) |
I281V |
probably benign |
Het |
| Otog |
T |
C |
7: 45,955,299 (GRCm39) |
V563A |
possibly damaging |
Het |
| Perm1 |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
4: 156,302,525 (GRCm39) |
|
probably benign |
Het |
| Phkb |
G |
A |
8: 86,623,059 (GRCm39) |
V128I |
probably damaging |
Het |
| Ppp2r3d |
A |
G |
9: 124,442,222 (GRCm38) |
L50P |
|
Het |
| Ptbp1 |
T |
C |
10: 79,695,615 (GRCm39) |
S239P |
possibly damaging |
Het |
| Repin1 |
A |
G |
6: 48,571,877 (GRCm39) |
K41E |
probably benign |
Het |
| Scrn1 |
A |
T |
6: 54,502,649 (GRCm39) |
I130N |
probably damaging |
Het |
| Spata31 |
T |
A |
13: 65,068,527 (GRCm39) |
L225Q |
probably damaging |
Het |
| Spred1 |
G |
A |
2: 116,983,648 (GRCm39) |
|
probably null |
Het |
| Taar7e |
A |
G |
10: 23,914,310 (GRCm39) |
R267G |
possibly damaging |
Het |
| Tgm5 |
T |
A |
2: 120,905,633 (GRCm39) |
Y174F |
probably damaging |
Het |
| Tmprss11f |
T |
C |
5: 86,685,876 (GRCm39) |
I164V |
probably damaging |
Het |
| Tomm22 |
T |
C |
15: 79,555,468 (GRCm39) |
L71P |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,577,531 (GRCm39) |
G24454V |
probably damaging |
Het |
| Wdr64 |
A |
G |
1: 175,618,823 (GRCm39) |
S739G |
possibly damaging |
Het |
| Zswim2 |
C |
T |
2: 83,746,275 (GRCm39) |
V388I |
probably benign |
Het |
|
| Other mutations in Prl2c5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00910:Prl2c5
|
APN |
13 |
13,364,061 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01874:Prl2c5
|
APN |
13 |
13,365,362 (GRCm39) |
missense |
probably benign |
|
|
IGL01878:Prl2c5
|
APN |
13 |
13,360,402 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0178:Prl2c5
|
UTSW |
13 |
13,366,390 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0276:Prl2c5
|
UTSW |
13 |
13,357,634 (GRCm39) |
intron |
probably benign |
|
|
R0373:Prl2c5
|
UTSW |
13 |
13,357,609 (GRCm39) |
intron |
probably benign |
|
|
R0539:Prl2c5
|
UTSW |
13 |
13,363,906 (GRCm39) |
splice site |
probably null |
|
|
R1037:Prl2c5
|
UTSW |
13 |
13,360,492 (GRCm39) |
nonsense |
probably null |
|
|
R1296:Prl2c5
|
UTSW |
13 |
13,364,009 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1458:Prl2c5
|
UTSW |
13 |
13,365,310 (GRCm39) |
missense |
probably benign |
0.40 |
|
R1557:Prl2c5
|
UTSW |
13 |
13,365,265 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R1850:Prl2c5
|
UTSW |
13 |
13,360,377 (GRCm39) |
missense |
probably benign |
0.40 |
|
R1866:Prl2c5
|
UTSW |
13 |
13,365,358 (GRCm39) |
splice site |
probably null |
|
|
R1894:Prl2c5
|
UTSW |
13 |
13,366,263 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2060:Prl2c5
|
UTSW |
13 |
13,365,238 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2330:Prl2c5
|
UTSW |
13 |
13,366,378 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R4755:Prl2c5
|
UTSW |
13 |
13,363,970 (GRCm39) |
missense |
probably benign |
|
|
R5229:Prl2c5
|
UTSW |
13 |
13,360,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5364:Prl2c5
|
UTSW |
13 |
13,357,627 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6307:Prl2c5
|
UTSW |
13 |
13,365,175 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6350:Prl2c5
|
UTSW |
13 |
13,357,631 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6927:Prl2c5
|
UTSW |
13 |
13,357,503 (GRCm39) |
splice site |
probably null |
|
|
R7397:Prl2c5
|
UTSW |
13 |
13,366,327 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7965:Prl2c5
|
UTSW |
13 |
13,360,469 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8084:Prl2c5
|
UTSW |
13 |
13,360,539 (GRCm39) |
missense |
probably benign |
0.20 |
|
R8959:Prl2c5
|
UTSW |
13 |
13,365,392 (GRCm39) |
intron |
probably benign |
|
|
R8980:Prl2c5
|
UTSW |
13 |
13,360,470 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9258:Prl2c5
|
UTSW |
13 |
13,365,297 (GRCm39) |
missense |
probably damaging |
0.97 |
|
RF020:Prl2c5
|
UTSW |
13 |
13,360,497 (GRCm39) |
missense |
probably benign |
0.28 |
|
X0025:Prl2c5
|
UTSW |
13 |
13,366,339 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAAGGATTCCATTGACAAGATGAC -3'
(R):5'- TGGCCTATAGTTCAGTAGTTGC -3'
Sequencing Primer
(F):5'- CCCTCACAAGAATATATCTGAGAGTG -3'
(R):5'- CAGTAGTTGCTCTGTTCTCCTTGAG -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation