Mutagenetix > Incidental Mutations

Incidental Mutation 'R6170:Prlr'

490407

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: 0.439) question?

Stock #

R6170 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

10177238-10349180 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 10328849 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 470 (F470S)

Ref Sequence

ENSEMBL: ENSMUSP00000122219 (fasta)

Gene Model

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000005400

Predicted Effect

probably benign
Transcript: ENSMUST00000124470
AA Change: F470S

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000122219
Gene: ENSMUSG00000005268
AA Change: F470S

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

noncoding transcript
Transcript: ENSMUST00000145428

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: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

96% (68/71)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610030E20Rik	T	A	6: 72,348,572	S90R	probably benign	Het
4930430A15Rik	A	G	2: 111,227,948	Y167H	probably benign	Het
4930523C07Rik	C	A	1: 160,075,173	N4K	possibly damaging	Het
5430419D17Rik	A	T	7: 131,174,487		probably null	Het
Adgrl2	A	G	3: 148,823,009	S1167P	probably damaging	Het
Akr1e1	T	C	13: 4,602,724	D94G	possibly damaging	Het
Anln	T	C	9: 22,368,497	N466D	probably benign	Het
Atp9b	T	A	18: 80,877,347	I231L	probably benign	Het
Bpifb3	T	A	2: 153,919,637	M2K	unknown	Het
Btbd3	T	C	2: 138,278,942	L12P	probably damaging	Het
Btnl6	T	A	17: 34,515,506	Y94F	probably damaging	Het
Cab39	T	A	1: 85,818,455	L19*	probably null	Het
Cacna2d2	A	G	9: 107,527,334	D1114G	probably damaging	Het
Cdh11	A	G	8: 102,634,810	V632A	probably benign	Het
Cemip	T	G	7: 83,947,230	T1109P	possibly damaging	Het
Col7a1	C	A	9: 108,966,443	P1522Q	unknown	Het
Colgalt1	C	T	8: 71,621,870	L409F	probably damaging	Het
Crtc2	A	G	3: 90,259,600	M125V	probably benign	Het
Cyp2b19	T	G	7: 26,759,094	M78R	possibly damaging	Het
Cyp4a12a	A	C	4: 115,327,446	D308A	possibly damaging	Het
D16Ertd472e	T	C	16: 78,545,267	T242A	probably benign	Het
Ddah1	A	G	3: 145,891,506	D166G	probably benign	Het
Dmtn	T	C	14: 70,617,355	D60G	probably damaging	Het
Dsg1a	A	T	18: 20,335,986	D607V	probably damaging	Het
Ebf1	T	A	11: 44,883,885	N236K	probably damaging	Het
Emc1	A	G	4: 139,366,378	T600A	probably benign	Het
Fam205a1	A	G	4: 42,849,345	V937A	probably benign	Het
Fbxo33	T	C	12: 59,204,649	N360S	probably benign	Het
Fbxw5	A	G	2: 25,503,603	D72G	possibly damaging	Het
Fhad1	T	A	4: 141,890,952	K1388*	probably null	Het
Fzd7	A	G	1: 59,483,845	M296V	probably benign	Het
Gdpd3	T	C	7: 126,771,164	I257T	probably benign	Het
Glt28d2	T	G	3: 85,871,941	D75A	possibly damaging	Het
Gm14295	G	A	2: 176,811,144		probably benign	Het
Gm28729	A	G	9: 96,519,441	I98T	probably damaging	Het
Gm4924	C	T	10: 82,377,231	Q288*	probably null	Het
Gpr150	T	C	13: 76,056,557	M90V	probably damaging	Het
Ireb2	G	A	9: 54,887,372	V331I	probably benign	Het
Kdelc2	T	C	9: 53,399,742	V481A	possibly damaging	Het
Lpcat2b	A	T	5: 107,433,894	Y363F	probably benign	Het
Me2	T	C	18: 73,785,781	I410V	probably benign	Het
Naxe	T	C	3: 88,058,230	E58G	probably damaging	Het
Nlrp10	T	A	7: 108,924,464	D603V	probably benign	Het
Nlrp1b	T	A	11: 71,156,079	Y1149F	probably damaging	Het
Nrg1	A	G	8: 31,818,480	Y503H	probably damaging	Het
Nxpe4	C	T	9: 48,392,804	P64S	probably benign	Het
Pkd1l3	A	T	8: 109,623,179	T219S	unknown	Het
Plagl1	T	C	10: 13,127,231	L81P	probably damaging	Het
Polq	A	G	16: 37,045,812	Q457R	possibly damaging	Het
Ppargc1a	C	A	5: 51,473,911	A459S	probably damaging	Het
Ppp1r13l	A	G	7: 19,370,437	D253G	probably benign	Het
Prl2c2	T	A	13: 13,002,172	N55Y	probably damaging	Het
Serpina12	T	C	12: 104,038,241	D44G	probably benign	Het
Sfxn1	T	G	13: 54,106,507	S291R	probably benign	Het
Sipa1l1	A	G	12: 82,341,672	D224G	probably benign	Het
Slc30a7	A	G	3: 115,990,743	F123S	probably damaging	Het
Stox2	T	A	8: 47,192,020	M802L	probably benign	Het
Tmem150a	G	A	6: 72,356,745	R30H	probably benign	Het
Tmem210	G	A	2: 25,288,764		probably null	Het
Tor3a	T	C	1: 156,656,573	N269S	possibly damaging	Het
Trp63	A	C	16: 25,884,853	N423T	probably benign	Het
Vmn2r60	A	G	7: 42,135,621	I86V	possibly damaging	Het
Vmn2r74	T	C	7: 85,957,140	I333V	probably benign	Het
Vwa7	C	A	17: 35,021,210	H385N	possibly damaging	Het
Wdr1	T	C	5: 38,529,671		probably null	Het
Wdr31	A	G	4: 62,463,424	Y57H	probably damaging	Het
Zbtb44	T	A	9: 31,053,382	H29Q	probably damaging	Het
Zfp532	T	A	18: 65,624,438	S481T	probably damaging	Het
Zfp955b	G	T	17: 33,302,110	R184S	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
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
Z1176:Prlr	UTSW	15	10314255	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AACATGGCCTTTACCACCTG -3'
(R):5'- ATCCGTGACCCCAGATACCTTG -3'

Sequencing Primer
(F):5'- GCCTTTACCACCTGGCCAAC -3'
(R):5'- GCATACTCCTTACTGGTTTCAGGAAC -3'

Posted On

2017-10-10