Mutagenetix > Incidental Mutations

Incidental Mutation 'R6911:Prlr'

539046

Institutional Source

Beutler Lab

Gene Symbol

Prlr

Ensembl Gene

ENSMUSG00000005268

Gene Name

prolactin receptor

Synonyms

Prlr-rs1, Pr-1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.475) question?

Stock #

R6911 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

10177238-10349180 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 10329184 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 582 (T582A)

Ref Sequence

ENSEMBL: ENSMUSP00000122219 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000124470] [ENSMUST00000128450] [ENSMUST00000128921] [ENSMUST00000137867] [ENSMUST00000148257]

Predicted Effect

probably benign
Transcript: ENSMUST00000124470
AA Change: T582A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000122219
Gene: ENSMUSG00000005268
AA Change: T582A

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: ENSMUST00000128450

SMART Domains

Protein: ENSMUSP00000122209
Gene: ENSMUSG00000005268

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

SMART Domains

Protein: ENSMUSP00000121280
Gene: ENSMUSG00000005268

Domain	Start	End	E-Value	Type
FN3	23	107	3.78e0	SMART
FN3	122	210	2.5e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000137867

SMART Domains

Protein: ENSMUSP00000121935
Gene: ENSMUSG00000005268

Domain	Start	End	E-Value	Type
FN3	23	107	3.78e0	SMART
FN3	122	210	2.5e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000148257

SMART Domains

Protein: ENSMUSP00000118355
Gene: ENSMUSG00000005268

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: 100.0%
3x: 99.9%
10x: 99.1%
20x: 97.1%

Validation Efficiency

98% (60/61)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	T	A	11: 78,268,353	I459N	probably damaging	Het
4930407I10Rik	T	A	15: 82,063,867	M655K	probably benign	Het
Amt	G	T	9: 108,301,229		probably null	Het
Anapc7	A	T	5: 122,440,280	K443*	probably null	Het
Apcs	A	G	1: 172,894,185	V198A	probably benign	Het
Atp2a1	A	G	7: 126,456,836	V271A	probably damaging	Het
Cdh20	T	C	1: 104,984,686	I555T	possibly damaging	Het
Cgnl1	T	C	9: 71,656,215	E810G	possibly damaging	Het
Cntnap5c	A	G	17: 57,892,014	D101G	probably damaging	Het
Coq7	T	A	7: 118,510,162	H221L	unknown	Het
Depdc5	A	T	5: 32,924,192	Q566L	probably damaging	Het
Dync1i2	G	A	2: 71,247,102	V233I	probably benign	Het
Erp44	G	T	4: 48,204,268	H298N	probably benign	Het
Fam162a	A	G	16: 36,046,377		probably null	Het
Fancd2	A	G	6: 113,548,385	E274G	probably damaging	Het
Fkbp15	G	T	4: 62,340,290	Q147K	probably damaging	Het
Ganab	T	A	19: 8,907,788		probably null	Het
Gfm1	T	C	3: 67,451,303	V409A	possibly damaging	Het
Gm5346	A	T	8: 43,625,109	F693I	probably benign	Het
Gnptab	G	A	10: 88,431,396	G450S	probably damaging	Het
Gpatch2l	G	A	12: 86,244,184	R47H	probably damaging	Het
Grid1	A	T	14: 34,820,228	M1L	probably benign	Het
Helz	C	T	11: 107,619,225	T558I	probably benign	Het
Htra4	A	G	8: 25,025,705	V439A	probably damaging	Het
Kctd17	A	G	15: 78,434,006	E95G	probably damaging	Het
Kif18b	T	C	11: 102,916,380	D43G	probably damaging	Het
Lrpprc	G	A	17: 84,756,283	S550L	possibly damaging	Het
Lrrfip1	T	A	1: 91,114,807	C311*	probably null	Het
Mcoln2	C	T	3: 146,192,256	T44I	probably damaging	Het
Med13l	A	G	5: 118,755,658	T2010A	possibly damaging	Het
Med23	C	T	10: 24,902,181	T803M	probably damaging	Het
Mfsd13a	T	C	19: 46,369,277	F290S	probably damaging	Het
Myh13	C	T	11: 67,354,927	Q1095*	probably null	Het
Nktr	C	A	9: 121,754,326	Y93*	probably null	Het
Nox3	A	G	17: 3,685,923	S143P	probably damaging	Het
Ntrk2	A	T	13: 58,859,215	E210D	probably damaging	Het
Nup210	G	T	6: 91,030,130	A568E	probably damaging	Het
Olfr1111	T	A	2: 87,149,767	K298I	probably damaging	Het
Olfr1279	A	G	2: 111,306,273	T23A	probably benign	Het
Olfr1331	T	A	4: 118,869,138	M119K	probably damaging	Het
Olfr1393	A	G	11: 49,280,807	I220V	probably benign	Het
Pdlim5	T	C	3: 142,304,315	I289V	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452		probably benign	Het
Per1	C	T	11: 69,103,257	T443M	probably damaging	Het
Plxna1	A	G	6: 89,320,974	V1774A	probably damaging	Het
Poteg	A	G	8: 27,450,298	Y165C	probably damaging	Het
Psma5	A	G	3: 108,265,148	E60G	probably damaging	Het
Rsrc1	C	T	3: 66,994,649	P44L	unknown	Het
Ryr2	T	C	13: 11,827,559	N484S	possibly damaging	Het
Sec31a	A	G	5: 100,393,264	I328T	possibly damaging	Het
Slc12a2	G	T	18: 57,919,469	V787L	probably benign	Het
St14	C	T	9: 31,106,785	R177Q	probably benign	Het
Tcof1	G	C	18: 60,829,051	A702G	possibly damaging	Het
Tom1l1	G	T	11: 90,644,161		probably null	Het
Ttf1	A	G	2: 29,064,851	R76G	probably benign	Het
Ube4a	C	T	9: 44,942,758	E581K	probably damaging	Het
Vmn2r114	A	G	17: 23,291,130	V792A	probably damaging	Het
Wdr11	T	C	7: 129,607,095	I430T	probably benign	Het
Xkr4	T	C	1: 3,671,321	K10E	possibly damaging	Het
Zfp451	T	C	1: 33,803,456		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
R1236:Prlr	UTSW	15	10325281	missense	probably benign	0.13
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
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
Z1176:Prlr	UTSW	15	10314255	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TCATTACTCCCCAAGCAGAGAG -3'
(R):5'- CACATCCTGTAACATCTGTTAGC -3'

Sequencing Primer
(F):5'- CCAGACAGAAAACCCTGGGG -3'
(R):5'- GTTAGCAGACCACATTACTTCATGAC -3'

Posted On

2018-11-06