Mutagenetix > Incidental Mutations

Incidental Mutation 'R7539:Prlr'

583810

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 essential (E-score: 0.535) question?

Stock #

R7539 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

10177238-10349180 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 10329023 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 528 (T528I)

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: T528I

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000122219
Gene: ENSMUSG00000005268
AA Change: T528I

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (63/63)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	A	G	15: 8,201,244	I1002V	probably benign	Het
4930516K23Rik	T	C	7: 104,059,263	E113G	probably damaging	Het
Abcf3	T	C	16: 20,552,632		probably null	Het
Agbl1	T	C	7: 76,425,929		probably null	Het
Ap5m1	C	A	14: 49,073,557	P28Q	probably damaging	Het
Bet1l	T	C	7: 140,854,544	D83G	probably benign	Het
Birc6	T	C	17: 74,649,696	S3571P	probably damaging	Het
Bod1l	A	T	5: 41,817,860	M2037K	possibly damaging	Het
Ccdc80	A	T	16: 45,095,082	E67V	probably benign	Het
Cep112	A	G	11: 108,855,828	M133V	probably benign	Het
Ckmt2	C	A	13: 91,859,944	D224Y	probably damaging	Het
Crb1	T	G	1: 139,248,229	K672T	probably damaging	Het
Dnhd1	T	C	7: 105,720,912	S4515P	probably damaging	Het
Dock9	A	G	14: 121,581,436	S1545P	probably damaging	Het
Dopey1	T	G	9: 86,521,573	S145A	probably benign	Het
Eps8l1	T	C	7: 4,470,037	S92P	probably damaging	Het
Faap100	T	C	11: 120,377,638	D103G	possibly damaging	Het
Fech	T	A	18: 64,483,494		probably null	Het
Folh1	T	A	7: 86,725,909	E623V	probably benign	Het
Galnt5	T	C	2: 58,035,230	L841P	probably damaging	Het
Ggh	C	G	4: 20,049,833	S88C	probably damaging	Het
Gm10577	C	T	4: 101,020,696	V1I	unknown	Het
Grip1	T	A	10: 120,054,871	H938Q	probably benign	Het
Gucy2g	G	A	19: 55,203,154	A955V	probably damaging	Het
Hpd	G	C	5: 123,178,192	Y165*	probably null	Het
Iqsec1	C	A	6: 90,662,891	R955L	probably benign	Het
Masp1	A	T	16: 23,470,378	H557Q	possibly damaging	Het
Muc4	C	T	16: 32,756,396	T20M		Het
Myo16	T	C	8: 10,361,095		probably null	Het
Nfkb2	T	C	19: 46,308,223	F273L	possibly damaging	Het
Olfr1299	T	C	2: 111,664,433	V69A	possibly damaging	Het
Olfr1489	C	T	19: 13,633,569	Q153*	probably null	Het
Olfr323	A	T	11: 58,625,956	I29N	probably damaging	Het
Olfr355	T	C	2: 36,927,209	R302G	probably benign	Het
Olfr444	T	C	6: 42,956,103	C202R	possibly damaging	Het
Olfr594	T	C	7: 103,220,066	V116A	possibly damaging	Het
Olfr598	A	G	7: 103,328,494	S3G	probably benign	Het
Olfr791	A	T	10: 129,527,105	K293*	probably null	Het
Olfr816	T	C	10: 129,912,063	T72A	probably damaging	Het
Olfr868	A	T	9: 20,101,619	M287L	probably benign	Het
Parp4	T	A	14: 56,635,755	I1152N	probably damaging	Het
Peg3	T	C	7: 6,708,168	T1352A	probably benign	Het
Pik3c2a	T	C	7: 116,340,096	N1669S	probably damaging	Het
Pinx1	A	T	14: 63,919,206	Q194L	probably benign	Het
Podxl2	A	C	6: 88,849,329	S268A	probably benign	Het
Polr2c	C	A	8: 94,870,779	H363N	unknown	Het
Rab37	A	C	11: 115,160,661	Q198P	probably benign	Het
Rrm2b	T	A	15: 37,937,351		probably null	Het
Serpina3b	T	C	12: 104,130,711	S84P	possibly damaging	Het
Slc9a3r2	G	T	17: 24,641,899	A223D	probably damaging	Het
Stat4	A	T	1: 52,071,709		probably null	Het
Them6	T	C	15: 74,723,500	I185T	probably damaging	Het
Tmco4	T	A	4: 139,021,699	M316K	probably benign	Het
Tmtc4	G	T	14: 122,978,289		probably null	Het
Tnni3k	A	T	3: 154,962,031	N248K	probably benign	Het
Trim43a	T	A	9: 88,583,043	L141Q	probably benign	Het
Utp20	C	T	10: 88,791,745	V953M	probably damaging	Het
Vmn2r118	T	A	17: 55,592,853	T684S	probably damaging	Het
Wasl	A	T	6: 24,619,198	I441N	unknown	Het
Wfikkn2	T	C	11: 94,242,359	D64G	probably damaging	Het
Zfp128	C	A	7: 12,890,552	Y282*	probably null	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
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
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'- GGCCAAAAGCTTCCCTTCTG -3'
(R):5'- AGGATCCAGGTAATCCAGCCTG -3'

Sequencing Primer
(F):5'- TTCTGACAAACAAAACACATCTTGG -3'
(R):5'- GTAATCCAGCCTGCCCAGTTG -3'

Posted On

2019-10-17