Incidental Mutation 'R1236:Prlr'
| ID |
152444 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prlr
|
| Ensembl Gene |
ENSMUSG00000005268 |
| Gene Name |
prolactin receptor |
| Synonyms |
Prlr-rs1, Pr-1 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.278)
|
| Stock # |
R1236 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
10177238-10349180 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 10325281 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 180
(T180K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118355
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000124470]
[ENSMUST00000127467]
[ENSMUST00000128450]
[ENSMUST00000128921]
[ENSMUST00000134410]
[ENSMUST00000137867]
[ENSMUST00000148257]
|
| AlphaFold |
Q08501 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000005400
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124470
AA Change: T180K
PolyPhen 2
Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000122219
Gene: ENSMUSG00000005268
AA Change: T180K
| Domain | Start | End | E-Value | Type |
|---|
|
FN3
|
23 |
107 |
3.78e0 |
SMART |
|
FN3
|
122 |
210 |
2.5e-2 |
SMART |
|
transmembrane domain
|
231 |
253 |
N/A |
INTRINSIC |
|
low complexity region
|
278 |
291 |
N/A |
INTRINSIC |
|
low complexity region
|
342 |
356 |
N/A |
INTRINSIC |
|
low complexity region
|
384 |
397 |
N/A |
INTRINSIC |
|
low complexity region
|
454 |
467 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127467
|
| SMART Domains |
Protein: ENSMUSP00000116211
Gene: ENSMUSG00000005268
| Domain | Start | End | E-Value | Type |
|---|
|
FN3
|
59 |
143 |
3.78e0 |
SMART |
|
Blast:FN3
|
158 |
185 |
7e-11 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128450
AA Change: T180K
PolyPhen 2
Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000122209
Gene: ENSMUSG00000005268
AA Change: T180K
| Domain | Start | End | E-Value | Type |
|---|
|
FN3
|
23 |
107 |
3.78e0 |
SMART |
|
FN3
|
122 |
210 |
2.5e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128921
AA Change: T180K
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000121280
Gene: ENSMUSG00000005268
AA Change: T180K
| Domain | Start | End | E-Value | Type |
|---|
|
FN3
|
23 |
107 |
3.78e0 |
SMART |
|
FN3
|
122 |
210 |
2.5e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134410
|
| SMART Domains |
Protein: ENSMUSP00000120417
Gene: ENSMUSG00000005268
| Domain | Start | End | E-Value | Type |
|---|
|
FN3
|
23 |
107 |
3.78e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137867
AA Change: T180K
PolyPhen 2
Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000121935
Gene: ENSMUSG00000005268
AA Change: T180K
| Domain | Start | End | E-Value | Type |
|---|
|
FN3
|
23 |
107 |
3.78e0 |
SMART |
|
FN3
|
122 |
210 |
2.5e-2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145428
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148257
AA Change: T180K
PolyPhen 2
Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000118355
Gene: ENSMUSG00000005268
AA Change: T180K
| Domain | Start | End | E-Value | Type |
|---|
|
FN3
|
23 |
107 |
3.78e0 |
SMART |
|
FN3
|
122 |
210 |
2.5e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000157020
|
| SMART Domains |
Protein: ENSMUSP00000120297
Gene: ENSMUSG00000094814
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
41 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a receptor for the anterior pituitary hormone, prolactin, and belongs to the type I cytokine receptor family. Prolactin-dependent signaling occurs as the result of ligand-induced dimerization of the prolactin receptor. Several alternatively spliced transcript variants encoding different membrane-bound and soluble isoforms have been described for this gene, which may function to modulate the endocrine and autocrine effects of prolactin in normal tissue and cancer. [provided by RefSeq, Feb 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal growth, hormone and glucose homeostasis, hair cycling, female reproductive behavior, morphology, and function, and thyroid, prostate, Hardarian, and lacrimal gland morphologies. Heterozygous mice exhibit defective neuron proliferation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001O22Rik |
T |
C |
2: 30,795,744 |
Y360C |
probably damaging |
Het |
| Afap1l2 |
T |
A |
19: 56,916,472 |
H566L |
possibly damaging |
Het |
| Aqr |
G |
T |
2: 114,116,655 |
F1015L |
probably damaging |
Het |
| Atp5s |
T |
C |
12: 69,741,818 |
|
probably null |
Het |
| Cep112 |
T |
A |
11: 108,859,374 |
L901H |
probably damaging |
Het |
| Col26a1 |
A |
G |
5: 136,754,926 |
V229A |
probably benign |
Het |
| Cyp4a14 |
T |
C |
4: 115,492,170 |
N231S |
probably benign |
Het |
| G530012D18Rik |
CAGAGAGA |
CAGAGAGAGA |
1: 85,577,224 |
|
probably null |
Het |
| Gm37240 |
T |
A |
3: 84,527,696 |
N13I |
probably benign |
Het |
| Kbtbd7 |
G |
T |
14: 79,427,832 |
C368F |
probably benign |
Het |
| Kyat3 |
A |
G |
3: 142,738,259 |
D418G |
probably benign |
Het |
| Lpcat2 |
A |
G |
8: 92,886,569 |
M246V |
probably damaging |
Het |
| Nbas |
T |
A |
12: 13,269,241 |
W31R |
probably damaging |
Het |
| Nckap1 |
C |
T |
2: 80,517,942 |
S889N |
probably benign |
Het |
| Npepl1 |
T |
A |
2: 174,114,480 |
|
probably null |
Het |
| Olfr805 |
A |
G |
10: 129,722,806 |
V246A |
probably damaging |
Het |
| Olfr906 |
T |
C |
9: 38,488,229 |
S67P |
probably damaging |
Het |
| P4ha3 |
T |
C |
7: 100,293,849 |
L147P |
probably damaging |
Het |
| Pkp2 |
C |
A |
16: 16,225,902 |
H173Q |
probably benign |
Het |
| Psph |
A |
G |
5: 129,771,476 |
M47T |
probably damaging |
Het |
| Rufy2 |
A |
G |
10: 62,994,770 |
N217S |
probably benign |
Het |
| Sgcg |
T |
C |
14: 61,245,770 |
M61V |
probably damaging |
Het |
| Snrnp40 |
C |
G |
4: 130,378,043 |
|
probably null |
Het |
| Spint1 |
A |
G |
2: 119,245,573 |
T217A |
probably benign |
Het |
| Tert |
T |
C |
13: 73,636,379 |
L648P |
probably damaging |
Het |
| Vwde |
A |
T |
6: 13,187,153 |
Y778* |
probably null |
Het |
| Zeb2 |
T |
A |
2: 44,994,646 |
D967V |
probably damaging |
Het |
| Zfp687 |
T |
C |
3: 95,012,044 |
N139S |
probably benign |
Het |
| Zscan26 |
T |
C |
13: 21,445,770 |
M188V |
probably benign |
Het |
|
| Other mutations in Prlr |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00429:Prlr
|
APN |
15 |
10328324 |
missense |
probably benign |
0.00 |
|
IGL00688:Prlr
|
APN |
15 |
10322381 |
unclassified |
probably benign |
|
|
IGL01527:Prlr
|
APN |
15 |
10329171 |
missense |
probably benign |
0.28 |
|
IGL01626:Prlr
|
APN |
15 |
10328718 |
missense |
probably benign |
0.12 |
|
IGL01660:Prlr
|
APN |
15 |
10317590 |
missense |
probably damaging |
1.00 |
|
IGL01835:Prlr
|
APN |
15 |
10329043 |
missense |
probably damaging |
1.00 |
|
IGL01926:Prlr
|
APN |
15 |
10314220 |
start codon destroyed |
probably null |
0.76 |
|
IGL01952:Prlr
|
APN |
15 |
10328342 |
missense |
possibly damaging |
0.95 |
|
IGL02306:Prlr
|
APN |
15 |
10328674 |
missense |
probably benign |
0.05 |
|
IGL02394:Prlr
|
APN |
15 |
10328578 |
missense |
probably benign |
0.03 |
|
IGL02430:Prlr
|
APN |
15 |
10325391 |
missense |
probably damaging |
1.00 |
|
IGL02695:Prlr
|
APN |
15 |
10328365 |
missense |
probably benign |
0.20 |
|
IGL02745:Prlr
|
APN |
15 |
10328594 |
missense |
possibly damaging |
0.50 |
|
IGL03193:Prlr
|
APN |
15 |
10328290 |
missense |
possibly damaging |
0.57 |
|
IGL03277:Prlr
|
APN |
15 |
10328801 |
missense |
probably benign |
0.01 |
|
IGL03379:Prlr
|
APN |
15 |
10319317 |
missense |
possibly damaging |
0.80 |
|
PIT4434001:Prlr
|
UTSW |
15 |
10328372 |
missense |
probably damaging |
1.00 |
|
R0057:Prlr
|
UTSW |
15 |
10328423 |
missense |
probably damaging |
0.99 |
|
R0057:Prlr
|
UTSW |
15 |
10328423 |
missense |
probably damaging |
0.99 |
|
R0545:Prlr
|
UTSW |
15 |
10317566 |
missense |
probably damaging |
1.00 |
|
R1352:Prlr
|
UTSW |
15 |
10328786 |
missense |
probably benign |
|
|
R1524:Prlr
|
UTSW |
15 |
10319333 |
missense |
probably damaging |
0.97 |
|
R1537:Prlr
|
UTSW |
15 |
10328278 |
splice site |
probably null |
|
|
R1690:Prlr
|
UTSW |
15 |
10317590 |
missense |
probably damaging |
1.00 |
|
R1773:Prlr
|
UTSW |
15 |
10325318 |
nonsense |
probably null |
|
|
R1789:Prlr
|
UTSW |
15 |
10322536 |
missense |
probably benign |
0.32 |
|
R2421:Prlr
|
UTSW |
15 |
10319257 |
missense |
probably damaging |
1.00 |
|
R4518:Prlr
|
UTSW |
15 |
10328999 |
missense |
possibly damaging |
0.53 |
|
R4621:Prlr
|
UTSW |
15 |
10319376 |
intron |
probably benign |
|
|
R4855:Prlr
|
UTSW |
15 |
10328797 |
missense |
probably benign |
0.01 |
|
R4957:Prlr
|
UTSW |
15 |
10319195 |
missense |
probably damaging |
1.00 |
|
R5053:Prlr
|
UTSW |
15 |
10325385 |
missense |
probably benign |
0.00 |
|
R5731:Prlr
|
UTSW |
15 |
10314135 |
missense |
probably benign |
0.00 |
|
R5749:Prlr
|
UTSW |
15 |
10328718 |
missense |
probably benign |
0.12 |
|
R5806:Prlr
|
UTSW |
15 |
10319204 |
missense |
probably damaging |
1.00 |
|
R5927:Prlr
|
UTSW |
15 |
10322446 |
missense |
probably benign |
0.42 |
|
R6170:Prlr
|
UTSW |
15 |
10328849 |
missense |
probably benign |
0.05 |
|
R6911:Prlr
|
UTSW |
15 |
10329184 |
missense |
probably benign |
|
|
R6935:Prlr
|
UTSW |
15 |
10319302 |
missense |
probably damaging |
1.00 |
|
R7327:Prlr
|
UTSW |
15 |
10346438 |
missense |
probably benign |
0.00 |
|
R7539:Prlr
|
UTSW |
15 |
10329023 |
missense |
probably benign |
0.11 |
|
R7579:Prlr
|
UTSW |
15 |
10328935 |
missense |
probably benign |
0.08 |
|
R7615:Prlr
|
UTSW |
15 |
10325924 |
missense |
probably damaging |
1.00 |
|
R7651:Prlr
|
UTSW |
15 |
10328378 |
missense |
probably benign |
0.26 |
|
R8213:Prlr
|
UTSW |
15 |
10329242 |
missense |
possibly damaging |
0.95 |
|
R8537:Prlr
|
UTSW |
15 |
10314180 |
start gained |
probably benign |
|
|
R9015:Prlr
|
UTSW |
15 |
10319266 |
missense |
probably damaging |
1.00 |
|
R9252:Prlr
|
UTSW |
15 |
10326464 |
splice site |
probably benign |
|
|
R9335:Prlr
|
UTSW |
15 |
10325271 |
missense |
probably benign |
0.08 |
|
R9341:Prlr
|
UTSW |
15 |
10328902 |
missense |
probably benign |
|
|
R9343:Prlr
|
UTSW |
15 |
10328902 |
missense |
probably benign |
|
|
Z1176:Prlr
|
UTSW |
15 |
10314255 |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTGTCACCAAGTATCCTGTTGTGGTTT -3'
(R):5'- TGACCAGTGAGTCCTTGGAAGACAT -3'
Sequencing Primer
(F):5'- gtttttctgtgctgccctg -3'
(R):5'- GTTTGCCAACTGTGACTCAAG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation