Mutagenetix > Incidental Mutations

Incidental Mutation 'R5927:Prlr'

459973

Institutional Source

Beutler Lab

Gene Symbol

Prlr

Ensembl Gene

ENSMUSG00000005268

Gene Name

prolactin receptor

Synonyms

Prlr-rs1, Pr-1

MMRRC Submission

044122-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.503) question?

Stock #

R5927 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

10177238-10349180 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 10322446 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 176 (T176I)

Ref Sequence

ENSEMBL: ENSMUSP00000116211 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000124470] [ENSMUST00000127467] [ENSMUST00000128450] [ENSMUST00000128921] [ENSMUST00000130720] [ENSMUST00000134410] [ENSMUST00000137867] [ENSMUST00000148257]

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000005400

Predicted Effect

probably benign
Transcript: ENSMUST00000124470
AA Change: T140I

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

SMART Domains

Protein: ENSMUSP00000122219
Gene: ENSMUSG00000005268
AA Change: T140I

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
AA Change: T176I

PolyPhen 2 Score 0.422 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000116211
Gene: ENSMUSG00000005268
AA Change: T176I

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: T140I

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

SMART Domains

Protein: ENSMUSP00000122209
Gene: ENSMUSG00000005268
AA Change: T140I

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: T140I

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

SMART Domains

Protein: ENSMUSP00000121280
Gene: ENSMUSG00000005268
AA Change: T140I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000130720

SMART Domains

Protein: ENSMUSP00000117084
Gene: ENSMUSG00000005268

Domain	Start	End	E-Value	Type
FN3	23	107	3.78e0	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132361

Predicted Effect

probably benign
Transcript: ENSMUST00000134410
AA Change: T140I

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

SMART Domains

Protein: ENSMUSP00000120417
Gene: ENSMUSG00000005268
AA Change: T140I

Domain	Start	End	E-Value	Type
FN3	23	107	3.78e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000137867
AA Change: T140I

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

SMART Domains

Protein: ENSMUSP00000121935
Gene: ENSMUSG00000005268
AA Change: T140I

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138135

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145428

Predicted Effect

probably benign
Transcript: ENSMUST00000148257
AA Change: T140I

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

SMART Domains

Protein: ENSMUSP00000118355
Gene: ENSMUSG00000005268
AA Change: T140I

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: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.0%

Validation Efficiency

100% (73/73)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadm	T	A	3: 153,939,108	I60F	probably damaging	Het
Ankrd26	A	G	6: 118,507,636		probably null	Het
Arhgdib	A	T	6: 136,924,138	W198R	probably damaging	Het
Atad5	T	A	11: 80,127,285	I1354N	probably damaging	Het
Ccdc146	T	A	5: 21,308,621	K500*	probably null	Het
Cdk11b	G	A	4: 155,648,240		probably benign	Het
Cmip	A	T	8: 117,257,309	T70S	possibly damaging	Het
Col22a1	G	T	15: 72,006,966	A114E	probably damaging	Het
Cpeb1	T	C	7: 81,361,680	D171G	possibly damaging	Het
Crebzf	C	T	7: 90,444,323		probably benign	Het
Cybb	C	G	X: 9,450,750	D246H	probably benign	Het
D630036H23Rik	C	A	12: 36,381,672		probably benign	Het
Dnah5	A	T	15: 28,335,718	T2277S	probably benign	Het
Dysf	T	A	6: 84,207,212	F2083Y	probably damaging	Het
Elavl4	T	A	4: 110,290,243		probably benign	Het
Elp3	A	G	14: 65,582,177	Y111H	probably damaging	Het
Eps8l2	A	T	7: 141,356,346	Q243L	probably benign	Het
Eri2	C	A	7: 119,786,068	L403F	probably damaging	Het
Fgfr4	T	A	13: 55,166,887	N614K	probably damaging	Het
Gm5108	T	G	5: 67,976,871	I74S	unknown	Het
Gpn1	T	C	5: 31,500,891	F130L	probably damaging	Het
Gpr176	T	A	2: 118,373,040	I50F	probably benign	Het
Gramd1a	A	G	7: 31,139,821	S221P	probably benign	Het
Hivep3	A	G	4: 120,097,108	T874A	possibly damaging	Het
Igkv12-40	A	G	6: 69,879,399		noncoding transcript	Het
Itgb2	C	A	10: 77,546,034	P57T	probably damaging	Het
Kcmf1	T	A	6: 72,843,005	D286V	possibly damaging	Het
Kcnt1	T	A	2: 25,909,376		probably benign	Het
Kif15	A	G	9: 123,017,261	S76G	probably benign	Het
Kpna3	C	T	14: 61,384,647	V223I	probably damaging	Het
Krt80	A	G	15: 101,364,208		probably benign	Het
Lama4	A	G	10: 39,072,812	Y857C	probably damaging	Het
Lcorl	G	T	5: 45,725,424		probably benign	Het
Map4k3	A	G	17: 80,613,919	V528A	probably benign	Het
Mmp8	T	A	9: 7,563,202	N255K	possibly damaging	Het
Npat	A	T	9: 53,562,221	K438*	probably null	Het
Olfr1246	T	A	2: 89,591,100	N5I	possibly damaging	Het
P4htm	T	C	9: 108,597,383	Y61C	probably damaging	Het
Polr3h	G	T	15: 81,917,279		probably null	Het
Psme4	T	G	11: 30,804,294	F184V	possibly damaging	Het
Ptgfrn	A	T	3: 101,060,652	F542I	possibly damaging	Het
Rock1	T	C	18: 10,116,792	E448G	probably damaging	Het
Rpf1	A	T	3: 146,519,463		probably null	Het
Sectm1b	T	C	11: 121,055,674	I132V	probably benign	Het
Sestd1	T	A	2: 77,187,159	H688L	probably benign	Het
Sidt2	T	C	9: 45,944,454	Y530C	probably damaging	Het
Sin3a	A	T	9: 57,111,111	K938M	probably damaging	Het
Sin3b	C	A	8: 72,749,878	R647S	probably benign	Het
Slc16a14	T	C	1: 84,912,267	H439R	possibly damaging	Het
Stc1	T	C	14: 69,032,373	V134A	probably benign	Het
Stk11ip	G	A	1: 75,524,691	V24I	possibly damaging	Het
Tbx6	G	A	7: 126,784,853	A359T	possibly damaging	Het
Thra	G	A	11: 98,763,688	V295I	possibly damaging	Het
Tmem8	T	C	17: 26,121,998	Y692H	probably benign	Het
Tnr	T	C	1: 159,912,766	M1170T	probably damaging	Het
Tpcn2	T	A	7: 145,278,784	I112F	probably damaging	Het
Trdv2-2	T	C	14: 53,961,541	L96P	probably damaging	Het
Trim24	T	A	6: 37,958,569	W832R	probably damaging	Het
Usp4	T	G	9: 108,391,760	S891A	probably benign	Het
Vmn1r88	A	T	7: 13,178,513	R265S	probably benign	Het
Vmn2r118	A	G	17: 55,624,494	L60S	probably benign	Het
Wdr74	T	C	19: 8,739,833	C220R	possibly damaging	Het
Xpo1	A	T	11: 23,268,653		probably benign	Het
Xpo1	A	T	11: 23,268,656		probably benign	Het
Zfp850	C	A	7: 27,990,195	G196V	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
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
Z1176:Prlr	UTSW	15	10314255	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGCCCTCTAGGAGCTCATTATACAG -3'
(R):5'- AAGGTGATGCCAACATGGTG -3'

Sequencing Primer
(F):5'- CTCTAGGAGCTCATTATACAGTGGAG -3'
(R):5'- TGCCAACATGGTGGAAACTAATTAG -3'

Posted On

2017-02-28