Incidental Mutation 'R1403:Prl7d1'
ID |
160459 |
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 |
039465-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1403 (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 27893180 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Isoleucine
at position 243
(F243I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021776
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021776]
[ENSMUST00000224026]
|
AlphaFold |
P04769 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021776
AA Change: F243I
PolyPhen 2
Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000021776 Gene: ENSMUSG00000021348 AA Change: F243I
Domain | Start | End | E-Value | Type |
Pfam:Hormone_1
|
17 |
240 |
1.1e-78 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000224026
AA Change: F244I
PolyPhen 2
Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 97.5%
- 10x: 88.5%
- 20x: 65.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsf2 |
G |
T |
11: 94,453,700 (GRCm39) |
N420K |
probably benign |
Het |
Adam26a |
A |
T |
8: 44,022,229 (GRCm39) |
C420* |
probably null |
Het |
Afap1l1 |
T |
C |
18: 61,874,909 (GRCm39) |
Y424C |
probably damaging |
Het |
Agl |
A |
G |
3: 116,576,246 (GRCm39) |
V553A |
probably benign |
Het |
Akr7a5 |
T |
A |
4: 139,045,434 (GRCm39) |
M325K |
probably damaging |
Het |
Aldh7a1 |
C |
A |
18: 56,692,341 (GRCm39) |
E87* |
probably null |
Het |
Arhgap29 |
A |
G |
3: 121,767,578 (GRCm39) |
K7E |
probably damaging |
Het |
Brca2 |
T |
A |
5: 150,466,114 (GRCm39) |
D1959E |
probably benign |
Het |
Cdh20 |
G |
A |
1: 109,988,862 (GRCm39) |
V255I |
probably benign |
Het |
Chil5 |
G |
T |
3: 105,925,409 (GRCm39) |
Q171K |
probably benign |
Het |
Cul9 |
C |
G |
17: 46,833,101 (GRCm39) |
A1326P |
probably damaging |
Het |
Dhrs7c |
A |
T |
11: 67,702,476 (GRCm39) |
I155F |
probably damaging |
Het |
Dip2c |
A |
G |
13: 9,603,300 (GRCm39) |
|
probably null |
Het |
Fam124b |
T |
C |
1: 80,191,056 (GRCm39) |
Y109C |
possibly damaging |
Het |
Gak |
T |
A |
5: 108,739,011 (GRCm39) |
K156M |
probably damaging |
Het |
Gm17535 |
A |
G |
9: 3,035,804 (GRCm39) |
Y224C |
probably null |
Het |
Got1l1 |
C |
G |
8: 27,690,745 (GRCm39) |
|
probably null |
Het |
Grm1 |
T |
C |
10: 10,955,879 (GRCm39) |
D135G |
probably benign |
Het |
Hrh3 |
T |
G |
2: 179,744,547 (GRCm39) |
D131A |
probably damaging |
Het |
Hspg2 |
C |
T |
4: 137,267,411 (GRCm39) |
L2042F |
possibly damaging |
Het |
Itpr1 |
A |
T |
6: 108,366,514 (GRCm39) |
Q979L |
probably null |
Het |
Klb |
G |
C |
5: 65,506,089 (GRCm39) |
R112P |
possibly damaging |
Het |
Lingo2 |
A |
T |
4: 35,709,420 (GRCm39) |
C187S |
possibly damaging |
Het |
Lrp1 |
T |
A |
10: 127,417,760 (GRCm39) |
|
probably null |
Het |
Ltbp4 |
T |
C |
7: 27,028,464 (GRCm39) |
N266S |
unknown |
Het |
Mgam |
G |
A |
6: 40,643,815 (GRCm39) |
S581N |
possibly damaging |
Het |
Mrgpra9 |
T |
A |
7: 46,885,386 (GRCm39) |
I94L |
probably benign |
Het |
Msantd4 |
A |
T |
9: 4,384,023 (GRCm39) |
I115F |
probably benign |
Het |
Nrxn1 |
A |
C |
17: 90,950,481 (GRCm39) |
L566R |
probably benign |
Het |
Or5p59 |
T |
A |
7: 107,702,822 (GRCm39) |
I102N |
probably benign |
Het |
Rbm27 |
T |
C |
18: 42,450,746 (GRCm39) |
S509P |
probably damaging |
Het |
Rnf44 |
C |
T |
13: 54,829,821 (GRCm39) |
E306K |
probably damaging |
Het |
Rp1 |
T |
C |
1: 4,416,520 (GRCm39) |
R1531G |
possibly damaging |
Het |
Sf3b4 |
A |
G |
3: 96,080,953 (GRCm39) |
|
probably null |
Het |
Sfi1 |
TCGC |
TC |
11: 3,096,254 (GRCm39) |
|
probably null |
Het |
Sfi1 |
CCTCTC |
CCTCTCTC |
11: 3,127,419 (GRCm39) |
|
probably benign |
Het |
Sp110 |
T |
G |
1: 85,506,800 (GRCm39) |
E421A |
probably benign |
Het |
Stk4 |
C |
T |
2: 163,942,448 (GRCm39) |
T360M |
probably benign |
Het |
Vcan |
T |
A |
13: 89,836,603 (GRCm39) |
E2980D |
probably benign |
Het |
Vwa2 |
C |
T |
19: 56,869,570 (GRCm39) |
P2S |
unknown |
Het |
Wdr77 |
G |
A |
3: 105,874,573 (GRCm39) |
V322I |
possibly damaging |
Het |
Zfp12 |
C |
A |
5: 143,230,535 (GRCm39) |
Y287* |
probably null |
Het |
Zfp937 |
T |
A |
2: 150,080,868 (GRCm39) |
Y299* |
probably null |
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 |
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 |
R5295: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'- CCTTGCCTGGAATGTGACTTAAGCC -3'
(R):5'- AGAAGCAGAAATCCATGCCTGTGAC -3'
Sequencing Primer
(F):5'- CTTAAGCCACAGAAGAATGCTG -3'
(R):5'- TCAGCCTTTAGAAGGCATAGGTC -3'
|
Posted On |
2014-03-14 |