Incidental Mutation 'R4459:Prl7a2'
| ID |
330070 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prl7a2
|
| Ensembl Gene |
ENSMUSG00000046899 |
| Gene Name |
prolactin family 7, subfamily a, member 2 |
| Synonyms |
Prlpf, PLP-F |
| MMRRC Submission |
041579-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R4459 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
27842567-27852019 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 27849979 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 31
(V31A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006660
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006660]
|
| AlphaFold |
O54831 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006660
AA Change: V31A
PolyPhen 2
Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000006660
Gene: ENSMUSG00000046899
AA Change: V31A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hormone_1
|
17 |
244 |
6.9e-45 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc4 |
C |
T |
14: 118,836,805 (GRCm39) |
R652Q |
probably benign |
Het |
| Anks1b |
G |
A |
10: 90,346,706 (GRCm39) |
V669I |
probably damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Ash1l |
G |
A |
3: 88,873,541 (GRCm39) |
R108Q |
probably damaging |
Het |
| BC049715 |
G |
A |
6: 136,817,050 (GRCm39) |
A97T |
probably damaging |
Het |
| Cyp11b1 |
T |
A |
15: 74,708,208 (GRCm39) |
E422D |
probably damaging |
Het |
| Dmxl1 |
A |
T |
18: 50,094,283 (GRCm39) |
I2920F |
possibly damaging |
Het |
| Dnaaf6rt |
A |
G |
1: 31,262,405 (GRCm39) |
D129G |
probably damaging |
Het |
| Efcab6 |
C |
T |
15: 83,788,490 (GRCm39) |
G935S |
probably damaging |
Het |
| Esp3 |
C |
G |
17: 40,944,478 (GRCm39) |
T40S |
probably null |
Het |
| Gc |
T |
C |
5: 89,589,146 (GRCm39) |
M206V |
probably benign |
Het |
| Gm15446 |
A |
T |
5: 110,091,107 (GRCm39) |
H453L |
probably benign |
Het |
| Hes6 |
A |
G |
1: 91,340,061 (GRCm39) |
S132P |
probably damaging |
Het |
| Ighg2b |
T |
C |
12: 113,270,578 (GRCm39) |
Y184C |
unknown |
Het |
| Itga2 |
C |
G |
13: 114,980,019 (GRCm39) |
D1061H |
probably damaging |
Het |
| Kcnj5 |
A |
G |
9: 32,233,691 (GRCm39) |
I208T |
probably damaging |
Het |
| Klhl26 |
T |
C |
8: 70,904,194 (GRCm39) |
Y538C |
probably damaging |
Het |
| Letm2 |
A |
G |
8: 26,076,715 (GRCm39) |
C296R |
probably damaging |
Het |
| Lrfn4 |
C |
T |
19: 4,662,662 (GRCm39) |
V452I |
probably benign |
Het |
| Mypn |
A |
G |
10: 63,028,211 (GRCm39) |
V284A |
probably damaging |
Het |
| Or14j9 |
G |
A |
17: 37,874,365 (GRCm39) |
T279I |
probably damaging |
Het |
| Or2y1e |
A |
T |
11: 49,218,703 (GRCm39) |
N155I |
probably damaging |
Het |
| Or5aq1 |
T |
C |
2: 86,966,005 (GRCm39) |
H220R |
probably benign |
Het |
| Or8c20 |
T |
A |
9: 38,261,288 (GRCm39) |
V297D |
probably damaging |
Het |
| Pcdhgb6 |
C |
T |
18: 37,875,759 (GRCm39) |
P156S |
probably benign |
Het |
| Pou2f1 |
A |
G |
1: 165,722,575 (GRCm39) |
F337L |
probably damaging |
Het |
| Rasal2 |
A |
G |
1: 157,003,402 (GRCm39) |
F419S |
possibly damaging |
Het |
| Rmnd5a |
C |
T |
6: 71,373,865 (GRCm39) |
G310R |
probably damaging |
Het |
| Rrm2b |
T |
A |
15: 37,945,397 (GRCm39) |
|
probably null |
Het |
| Smg8 |
T |
C |
11: 86,976,396 (GRCm39) |
D395G |
probably benign |
Het |
| Snx30 |
A |
T |
4: 59,885,022 (GRCm39) |
R221* |
probably null |
Het |
| Tyk2 |
T |
C |
9: 21,035,711 (GRCm39) |
E157G |
probably damaging |
Het |
| Wdr90 |
T |
A |
17: 26,079,976 (GRCm39) |
T120S |
possibly damaging |
Het |
| Zfp747l1 |
A |
G |
7: 126,983,917 (GRCm39) |
L395P |
probably damaging |
Het |
| Zfp804b |
A |
T |
5: 6,821,481 (GRCm39) |
D491E |
probably damaging |
Het |
|
| Other mutations in Prl7a2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01484:Prl7a2
|
APN |
13 |
27,843,191 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02424:Prl7a2
|
APN |
13 |
27,851,953 (GRCm39) |
missense |
probably null |
0.08 |
|
IGL02734:Prl7a2
|
APN |
13 |
27,843,190 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL02823:Prl7a2
|
APN |
13 |
27,846,734 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
PIT4260001:Prl7a2
|
UTSW |
13 |
27,843,259 (GRCm39) |
nonsense |
probably null |
|
|
R0733:Prl7a2
|
UTSW |
13 |
27,846,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1371:Prl7a2
|
UTSW |
13 |
27,846,750 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1778:Prl7a2
|
UTSW |
13 |
27,843,254 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1857:Prl7a2
|
UTSW |
13 |
27,843,163 (GRCm39) |
nonsense |
probably null |
|
|
R2063:Prl7a2
|
UTSW |
13 |
27,844,870 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2064:Prl7a2
|
UTSW |
13 |
27,844,870 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2065:Prl7a2
|
UTSW |
13 |
27,844,870 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2067:Prl7a2
|
UTSW |
13 |
27,844,870 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2068:Prl7a2
|
UTSW |
13 |
27,844,870 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2176:Prl7a2
|
UTSW |
13 |
27,843,089 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2213:Prl7a2
|
UTSW |
13 |
27,849,051 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4111:Prl7a2
|
UTSW |
13 |
27,849,050 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R4483:Prl7a2
|
UTSW |
13 |
27,844,930 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4722:Prl7a2
|
UTSW |
13 |
27,844,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5360:Prl7a2
|
UTSW |
13 |
27,843,143 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5778:Prl7a2
|
UTSW |
13 |
27,844,983 (GRCm39) |
nonsense |
probably null |
|
|
R6667:Prl7a2
|
UTSW |
13 |
27,845,024 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7107:Prl7a2
|
UTSW |
13 |
27,843,076 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7600:Prl7a2
|
UTSW |
13 |
27,843,264 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R8298:Prl7a2
|
UTSW |
13 |
27,844,994 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8447:Prl7a2
|
UTSW |
13 |
27,849,941 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R9009:Prl7a2
|
UTSW |
13 |
27,849,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9331:Prl7a2
|
UTSW |
13 |
27,849,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9624:Prl7a2
|
UTSW |
13 |
27,849,869 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGGACAATTTGACTGTGAAGTTC -3'
(R):5'- TGAAAACCCGCACAAATTCTTG -3'
Sequencing Primer
(F):5'- GTTCGTTTATGAAATAGACCAGAGC -3'
(R):5'- TCACAGTGAAAGATTCTTTTTCCC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation