Mutagenetix > Incidental Mutation

Incidental Mutation 'R8213:Prlr'

636284

Institutional Source

Beutler Lab

Gene Symbol

Prlr

Ensembl Gene

ENSMUSG00000005268

Gene Name

prolactin receptor

Synonyms

Prlr-rs1, Pr-1

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.278) question?

Stock #

R8213 (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 10329242 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 601 (T601M)

Ref Sequence

ENSEMBL: ENSMUSP00000122219 (fasta)

Gene Model

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

AlphaFold

Q08501

Predicted Effect

possibly damaging
Transcript: ENSMUST00000124470
AA Change: T601M

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000122219
Gene: ENSMUSG00000005268
AA Change: T601M

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: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.1%

Validation Efficiency

98% (65/66)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	T	C	15: 60,919,756	Y277C	probably damaging	Het
Acss1	T	A	2: 150,619,710	D651V	possibly damaging	Het
Aktip	G	T	8: 91,124,866	P243H	possibly damaging	Het
Arl11	T	G	14: 61,311,265	S175A	probably benign	Het
Aup1	A	G	6: 83,054,607		probably benign	Het
Avil	A	T	10: 127,008,321	I250F	probably damaging	Het
Btnl6	A	T	17: 34,508,883		probably null	Het
C77080	A	T	4: 129,221,459	V1070D	possibly damaging	Het
Ccdc7b	C	A	8: 129,178,291	Q137K	probably benign	Het
Cdk11b	G	A	4: 155,639,881	E319K	unknown	Het
Chka	A	C	19: 3,885,882	E196A	probably damaging	Het
Depdc5	C	T	5: 32,937,637	R753C	probably damaging	Het
Dhx57	T	A	17: 80,275,156	D340V	possibly damaging	Het
Dicer1	A	T	12: 104,702,693	D1243E	probably benign	Het
Dnajb9	A	T	12: 44,207,133	L164M	probably benign	Het
Dock6	A	G	9: 21,831,444	V785A	possibly damaging	Het
Efcab5	T	C	11: 77,116,071	Y909C	probably damaging	Het
Erp44	A	T	4: 48,208,783	S226T	probably benign	Het
Fgd6	A	T	10: 94,044,052	D256V	probably benign	Het
Fhl5	A	T	4: 25,207,113	Y218*	probably null	Het
Filip1	C	A	9: 79,818,092	A1082S	probably benign	Het
Gm13088	T	A	4: 143,654,185	M423L	probably benign	Het
Gm13128	A	T	4: 144,330,460	D71V	probably benign	Het
Heatr5a	G	A	12: 51,891,443	T1484M	probably damaging	Het
Herc1	G	T	9: 66,450,888	R2417L	probably damaging	Het
Hnrnpr	A	G	4: 136,317,175		probably benign	Het
Igsf5	A	T	16: 96,372,988	I73F	probably damaging	Het
Il17ra	T	C	6: 120,473,034	V91A	probably benign	Het
Inpp5f	A	G	7: 128,679,805	D510G	probably damaging	Het
Kbtbd3	A	G	9: 4,331,269	K548E	probably damaging	Het
Kdm5d	T	A	Y: 941,515	C1239S	probably damaging	Het
Mamdc4	G	A	2: 25,566,356	T709M	probably benign	Het
Mybbp1a	T	A	11: 72,444,721	Y353N	probably damaging	Het
Nepn	A	T	10: 52,391,759	E40D	probably benign	Het
Npat	G	T	9: 53,570,570	E1193*	probably null	Het
Nrde2	G	A	12: 100,131,003	S846L	probably benign	Het
Nup205	T	C	6: 35,225,203	V1290A	probably benign	Het
Olfr1009	T	A	2: 85,721,501	L32Q	probably null	Het
Olfr1424	A	G	19: 12,059,092	V220A	probably benign	Het
Olfr517	C	A	7: 108,868,519	V212L	probably benign	Het
Pde6a	A	T	18: 61,220,696	K31M	possibly damaging	Het
Pms2	C	T	5: 143,914,771	R169C	probably damaging	Het
Polr2g	A	T	19: 8,798,257	L30Q	probably damaging	Het
Prdm15	T	A	16: 97,807,060	H679L	probably damaging	Het
Prl4a1	T	G	13: 28,023,386	Y214*	probably null	Het
Psen2	A	C	1: 180,245,691	S22A	probably benign	Het
Ralgapa1	C	A	12: 55,722,914	R764L	probably damaging	Het
Scgb2b11	T	C	7: 32,209,408	E89G	probably damaging	Het
Serpina10	T	C	12: 103,628,277	I228V	probably benign	Het
Serpinb1a	T	A	13: 32,842,999	H320L	probably damaging	Het
Sesn2	C	A	4: 132,498,053	Q267H	possibly damaging	Het
Sgsm1	A	T	5: 113,251,011	W1019R	probably damaging	Het
Sqle	A	G	15: 59,321,302		probably null	Het
Syt14	T	C	1: 192,986,829	M39V	probably benign	Het
Tgm7	A	G	2: 121,101,064	V206A	probably damaging	Het
Thbs4	T	C	13: 92,760,586		probably null	Het
Trpv1	T	C	11: 73,254,251	F721S	probably damaging	Het
Ttll10	A	T	4: 156,036,234	M433K	probably benign	Het
Vmn1r216	T	C	13: 23,099,525	I126T	probably benign	Het
Vmn2r108	G	A	17: 20,470,088	S494F	probably benign	Het
Vwa3b	C	T	1: 37,128,939	A603V	probably benign	Het
Xirp2	T	A	2: 67,476,866	N19K	probably damaging	Het
Zfp397	T	A	18: 23,960,722	N421K	probably damaging	Het
Zscan5b	C	T	7: 6,233,947	P232S	possibly damaging	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
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
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'- TGGTGTTAGTGCCAGACTCAC -3'
(R):5'- TCAGCTGTTGGAAAGAGGC -3'

Sequencing Primer
(F):5'- TTAGTGCCAGACTCACGAGCC -3'
(R):5'- GCAAATGCTGAACACAAGCGTG -3'

Posted On

2020-07-13