Incidental Mutation 'R5295:Prl7d1'
| ID |
405371 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prl7d1
|
| Ensembl Gene |
ENSMUSG00000021348 |
| Gene Name |
prolactin family 7, subfamily d, member 1 |
| Synonyms |
Plfr, PLF-RP, PRP |
| MMRRC Submission |
042878-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5295 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
27892981-27900720 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 27893230 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 227
(V227D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153033
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021776]
[ENSMUST00000224026]
|
| AlphaFold |
P04769 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021776
AA Change: V226D
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000021776
Gene: ENSMUSG00000021348
AA Change: V226D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hormone_1
|
17 |
240 |
1.1e-78 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224026
AA Change: V227D
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk2 |
C |
T |
18: 65,438,109 (GRCm39) |
E1095K |
probably damaging |
Het |
| Alpl |
T |
C |
4: 137,476,919 (GRCm39) |
T245A |
probably benign |
Het |
| Ank2 |
T |
C |
3: 126,825,832 (GRCm39) |
H378R |
probably damaging |
Het |
| Arhgef1 |
G |
A |
7: 24,618,777 (GRCm39) |
|
probably null |
Het |
| Atp5f1c |
T |
C |
2: 10,073,544 (GRCm39) |
R10G |
possibly damaging |
Het |
| Cbln3 |
T |
C |
14: 56,120,920 (GRCm39) |
|
probably null |
Het |
| Ccr10 |
C |
T |
11: 101,065,111 (GRCm39) |
V140M |
possibly damaging |
Het |
| Cep135 |
T |
A |
5: 76,741,051 (GRCm39) |
H42Q |
possibly damaging |
Het |
| Commd5 |
C |
A |
15: 76,785,152 (GRCm39) |
T183K |
possibly damaging |
Het |
| Dnajc16 |
T |
C |
4: 141,495,239 (GRCm39) |
E493G |
possibly damaging |
Het |
| Ears2 |
T |
C |
7: 121,647,421 (GRCm39) |
R288G |
probably damaging |
Het |
| Elovl4 |
G |
A |
9: 83,662,714 (GRCm39) |
P273L |
possibly damaging |
Het |
| Fam186b |
T |
A |
15: 99,181,755 (GRCm39) |
I148F |
probably damaging |
Het |
| Fryl |
T |
C |
5: 73,270,134 (GRCm39) |
Y79C |
probably damaging |
Het |
| Gad1-ps |
A |
G |
10: 99,280,751 (GRCm39) |
|
noncoding transcript |
Het |
| Gm14325 |
G |
A |
2: 177,474,777 (GRCm39) |
H102Y |
possibly damaging |
Het |
| Ighv1-77 |
T |
A |
12: 115,825,528 (GRCm39) |
S104C |
probably damaging |
Het |
| Kcnv1 |
T |
C |
15: 44,977,987 (GRCm39) |
D17G |
unknown |
Het |
| Lmtk3 |
G |
A |
7: 45,440,722 (GRCm39) |
D243N |
probably damaging |
Het |
| Lrrc7 |
T |
A |
3: 157,876,376 (GRCm39) |
K571N |
probably damaging |
Het |
| Lsm7 |
T |
C |
10: 80,690,454 (GRCm39) |
E32G |
probably damaging |
Het |
| Ly6f |
A |
G |
15: 75,143,488 (GRCm39) |
Q65R |
probably benign |
Het |
| Perm1 |
T |
C |
4: 156,301,975 (GRCm39) |
L173P |
probably benign |
Het |
| Plvap |
T |
C |
8: 71,964,314 (GRCm39) |
Q16R |
probably benign |
Het |
| Prb1c |
T |
G |
6: 132,338,840 (GRCm39) |
Q126P |
unknown |
Het |
| Prss54 |
T |
C |
8: 96,291,106 (GRCm39) |
T165A |
probably damaging |
Het |
| Psrc1 |
A |
G |
3: 108,293,675 (GRCm39) |
I195V |
probably benign |
Het |
| Rnf123 |
AT |
ATT |
9: 107,941,202 (GRCm39) |
|
probably null |
Het |
| Rnf213 |
A |
T |
11: 119,331,642 (GRCm39) |
T2284S |
probably benign |
Het |
| Serpina3c |
T |
C |
12: 104,114,637 (GRCm39) |
E333G |
probably damaging |
Het |
| Serpinb6c |
A |
G |
13: 34,077,800 (GRCm39) |
F190S |
probably damaging |
Het |
| Sfmbt1 |
G |
A |
14: 30,495,986 (GRCm39) |
D90N |
probably damaging |
Het |
| Tdh |
T |
C |
14: 63,733,558 (GRCm39) |
Y110C |
probably damaging |
Het |
| Tdrd9 |
T |
A |
12: 112,018,346 (GRCm39) |
L1255* |
probably null |
Het |
| Trim41 |
TTCCTCCTCCTCCTCCTCCTCCTCCTCC |
TTCCTCCTCCTCCTCCTCCTCCTCC |
11: 48,707,084 (GRCm39) |
|
probably benign |
Het |
| Vps51 |
T |
G |
19: 6,121,063 (GRCm39) |
E283D |
probably benign |
Het |
| Zbtb2 |
T |
C |
10: 4,318,508 (GRCm39) |
K506R |
probably damaging |
Het |
| Zmiz1 |
T |
C |
14: 25,656,771 (GRCm39) |
L800P |
probably damaging |
Het |
| Znhit6 |
A |
G |
3: 145,306,248 (GRCm39) |
D251G |
probably benign |
Het |
|
| Other mutations in Prl7d1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01390:Prl7d1
|
APN |
13 |
27,894,149 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL01735:Prl7d1
|
APN |
13 |
27,898,372 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL02139:Prl7d1
|
APN |
13 |
27,896,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4305001:Prl7d1
|
UTSW |
13 |
27,898,320 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
PIT4531001:Prl7d1
|
UTSW |
13 |
27,894,161 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0555:Prl7d1
|
UTSW |
13 |
27,896,038 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0625:Prl7d1
|
UTSW |
13 |
27,894,123 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0631:Prl7d1
|
UTSW |
13 |
27,894,165 (GRCm39) |
missense |
probably benign |
0.32 |
|
R0837:Prl7d1
|
UTSW |
13 |
27,898,321 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1403:Prl7d1
|
UTSW |
13 |
27,893,180 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1403:Prl7d1
|
UTSW |
13 |
27,893,180 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1459:Prl7d1
|
UTSW |
13 |
27,893,240 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1643:Prl7d1
|
UTSW |
13 |
27,896,114 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1691:Prl7d1
|
UTSW |
13 |
27,893,365 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2016:Prl7d1
|
UTSW |
13 |
27,894,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3873:Prl7d1
|
UTSW |
13 |
27,900,651 (GRCm39) |
start codon destroyed |
probably null |
0.92 |
|
R3874:Prl7d1
|
UTSW |
13 |
27,900,651 (GRCm39) |
start codon destroyed |
probably null |
0.92 |
|
R5251:Prl7d1
|
UTSW |
13 |
27,893,227 (GRCm39) |
missense |
probably benign |
0.33 |
|
R5275:Prl7d1
|
UTSW |
13 |
27,893,230 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5398:Prl7d1
|
UTSW |
13 |
27,894,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6798:Prl7d1
|
UTSW |
13 |
27,893,380 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6818:Prl7d1
|
UTSW |
13 |
27,898,454 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6825:Prl7d1
|
UTSW |
13 |
27,894,125 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7478:Prl7d1
|
UTSW |
13 |
27,894,168 (GRCm39) |
nonsense |
probably null |
|
|
R7795:Prl7d1
|
UTSW |
13 |
27,893,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7995:Prl7d1
|
UTSW |
13 |
27,894,054 (GRCm39) |
missense |
probably benign |
|
|
R8193:Prl7d1
|
UTSW |
13 |
27,893,230 (GRCm39) |
missense |
|
|
|
R9313:Prl7d1
|
UTSW |
13 |
27,893,182 (GRCm39) |
missense |
probably benign |
|
|
R9424:Prl7d1
|
UTSW |
13 |
27,894,185 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9430:Prl7d1
|
UTSW |
13 |
27,898,360 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9733:Prl7d1
|
UTSW |
13 |
27,898,339 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9758:Prl7d1
|
UTSW |
13 |
27,893,260 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGCCTGGAATGTGACTTAAGC -3'
(R):5'- CCTTTAGAAGGCATAGGTCAAAGG -3'
Sequencing Primer
(F):5'- CCTGGAATGTGACTTAAGCCACAG -3'
(R):5'- GCATAGGTCAAAGGAATACAAACAC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation