Mutagenetix > Incidental Mutation

Incidental Mutation 'R9015:Prlr'

685948

Institutional Source

Beutler Lab

Gene Symbol

Prlr

Ensembl Gene

ENSMUSG00000005268

Gene Name

prolactin receptor

Synonyms

Prlr-rs1, Pr-1

MMRRC Submission

068845-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.323) question?

Stock #

R9015 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

10177324-10349266 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 10319352 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 94 (Y94N)

Ref Sequence

ENSEMBL: ENSMUSP00000122219 (fasta)

Gene Model

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

AlphaFold

Q08501

Predicted Effect

probably damaging
Transcript: ENSMUST00000124470
AA Change: Y94N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000122219
Gene: ENSMUSG00000005268
AA Change: Y94N

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 damaging
Transcript: ENSMUST00000127467
AA Change: Y130N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000116211
Gene: ENSMUSG00000005268
AA Change: Y130N

Domain	Start	End	E-Value	Type
FN3	59	143	3.78e0	SMART
Blast:FN3	158	185	7e-11	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000128450
AA Change: Y94N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000122209
Gene: ENSMUSG00000005268
AA Change: Y94N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000128921
AA Change: Y94N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000121280
Gene: ENSMUSG00000005268
AA Change: Y94N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000130720
AA Change: Y94N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000117084
Gene: ENSMUSG00000005268
AA Change: Y94N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000134410
AA Change: Y94N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000120417
Gene: ENSMUSG00000005268
AA Change: Y94N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000137867
AA Change: Y94N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000121935
Gene: ENSMUSG00000005268
AA Change: Y94N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000148257
AA Change: Y94N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000118355
Gene: ENSMUSG00000005268
AA Change: Y94N

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

Coding Region Coverage

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

Validation Efficiency

100% (93/93)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam22	T	C	5: 8,136,688 (GRCm39)		probably benign	Het
Adamtsl1	A	G	4: 86,150,847 (GRCm39)	D335G	probably damaging	Het
Adcy8	T	C	15: 64,597,206 (GRCm39)		probably benign	Het
Alas1	A	T	9: 106,113,670 (GRCm39)	I525N	probably benign	Het
Aoah	A	T	13: 21,184,197 (GRCm39)		silent	Het
Aox1	G	A	1: 58,382,851 (GRCm39)	V1044M	probably damaging	Het
Apcdd1	A	T	18: 63,083,157 (GRCm39)	Y329F	possibly damaging	Het
Arhgap10	A	C	8: 77,985,687 (GRCm39)	C727G	probably benign	Het
Arid4a	G	A	12: 71,122,168 (GRCm39)	D528N	possibly damaging	Het
Atp8a1	A	G	5: 67,887,250 (GRCm39)	V611A		Het
BC004004	T	C	17: 29,517,637 (GRCm39)	F284L	probably damaging	Het
Bean1	CT	C	8: 104,908,664 (GRCm39)		probably null	Het
Cep295	T	C	9: 15,244,264 (GRCm39)	I1397M	probably benign	Het
Cep63	A	G	9: 102,496,111 (GRCm39)	S99P	probably damaging	Het
Coq3	T	A	4: 21,899,107 (GRCm39)	S147T	probably benign	Het
Crym	A	T	7: 119,801,090 (GRCm39)	S20T	probably benign	Het
Ctr9	T	A	7: 110,643,108 (GRCm39)	N493K	probably benign	Het
Dchs2	A	G	3: 83,188,751 (GRCm39)	I1372V	possibly damaging	Het
Ddi2	G	A	4: 141,412,747 (GRCm39)	T55M	probably benign	Het
Dnah1	T	C	14: 30,986,316 (GRCm39)	M3724V	probably damaging	Het
Dst	A	G	1: 34,326,337 (GRCm39)	I4690V	probably benign	Het
Ect2l	T	C	10: 18,039,148 (GRCm39)	T429A	probably benign	Het
Eif3c	G	T	7: 126,155,538 (GRCm39)	H577N	probably damaging	Het
Erg	A	G	16: 95,162,126 (GRCm39)	S334P	possibly damaging	Het
Faf2	A	G	13: 54,796,139 (GRCm39)	S127G	probably benign	Het
Fbxl3	T	A	14: 103,329,790 (GRCm39)	T141S	possibly damaging	Het
Fbxw4	T	A	19: 45,624,874 (GRCm39)	M122L	probably benign	Het
Fgd4	T	C	16: 16,271,941 (GRCm39)	M476V	probably damaging	Het
Flvcr2	A	T	12: 85,829,779 (GRCm39)	I263F	probably benign	Het
Gadl1	A	T	9: 115,794,705 (GRCm39)	R293S	probably benign	Het
Gm11983	G	T	11: 6,787,033 (GRCm39)	F31L	unknown	Het
Gmnn	A	T	13: 24,940,638 (GRCm39)	N70K	probably benign	Het
Gpr3	A	G	4: 132,938,390 (GRCm39)	V94A	possibly damaging	Het
Greb1l	A	G	18: 10,541,675 (GRCm39)	S1141G	probably benign	Het
Helz2	A	T	2: 180,870,792 (GRCm39)	V2892E	probably damaging	Het
Hivep1	T	A	13: 42,311,849 (GRCm39)	M1363K	probably benign	Het
Hk1	T	A	10: 62,128,118 (GRCm39)	T336S	possibly damaging	Het
Hpgds	A	T	6: 65,115,229 (GRCm39)	I18N	possibly damaging	Het
Insrr	T	A	3: 87,720,910 (GRCm39)	L1056Q	probably damaging	Het
Ints10	A	G	8: 69,260,139 (GRCm39)	M288V	probably benign	Het
Itgb6	T	C	2: 60,485,032 (GRCm39)	D237G	probably damaging	Het
Kcnf1	A	G	12: 17,225,303 (GRCm39)	I306T	probably damaging	Het
Kdm3b	G	A	18: 34,963,212 (GRCm39)	G1556D	probably damaging	Het
Kif5b	A	G	18: 6,216,892 (GRCm39)	L477P	probably damaging	Het
Klf5	T	G	14: 99,540,919 (GRCm39)	*310G	probably null	Het
Lnx1	A	G	5: 74,780,783 (GRCm39)	V246A	probably benign	Het
Ly75	C	T	2: 60,146,442 (GRCm39)	E1279K	probably benign	Het
Lztr1	T	A	16: 17,337,305 (GRCm39)	C233S	probably benign	Het
Mfsd6l	T	G	11: 68,447,536 (GRCm39)	I129S	probably benign	Het
Mrgprx2	T	A	7: 48,148,938 (GRCm39)		probably benign	Het
Ncapd2	A	T	6: 125,145,285 (GRCm39)		probably benign	Het
Or10ag53	T	A	2: 87,082,546 (GRCm39)	Y88*	probably null	Het
Or12e9	T	A	2: 87,202,485 (GRCm39)	M203K	possibly damaging	Het
Or2a25	G	T	6: 42,888,825 (GRCm39)	V123L	possibly damaging	Het
Or8g30	A	C	9: 39,230,019 (GRCm39)	V297G	probably damaging	Het
Pde6a	A	G	18: 61,397,047 (GRCm39)	H631R	probably damaging	Het
Pfkl	C	T	10: 77,824,794 (GRCm39)	G665D	probably damaging	Het
Pik3ap1	T	A	19: 41,270,430 (GRCm39)	E753V	probably damaging	Het
Pik3cd	G	T	4: 149,740,055 (GRCm39)	R502S	probably benign	Het
Piwil2	T	A	14: 70,627,984 (GRCm39)	I762L	probably benign	Het
Pkd1	T	A	17: 24,784,636 (GRCm39)	L394*	probably null	Het
Plekhb2	A	G	1: 34,916,046 (GRCm39)	D195G	probably benign	Het
Plppr5	T	C	3: 117,456,103 (GRCm39)	M208T	probably damaging	Het
Polr2i	G	A	7: 29,932,513 (GRCm39)	V115I	unknown	Het
Prkacb	T	C	3: 146,456,239 (GRCm39)	S187G	probably null	Het
Prkag3	G	T	1: 74,780,353 (GRCm39)	H437Q	probably benign	Het
Prmt6	T	C	3: 110,157,214 (GRCm39)	I358M	probably benign	Het
Psd4	A	G	2: 24,287,492 (GRCm39)	R475G		Het
Rad51b	G	A	12: 79,347,417 (GRCm39)	C27Y	probably damaging	Het
Scfd2	A	G	5: 74,691,625 (GRCm39)	L219P	probably damaging	Het
Scn5a	G	A	9: 119,381,142 (GRCm39)		probably benign	Het
Sec24d	T	C	3: 123,121,287 (GRCm39)	V391A	probably benign	Het
Selenbp2	T	A	3: 94,607,332 (GRCm39)	L251Q	probably damaging	Het
Sh3rf1	T	C	8: 61,827,202 (GRCm39)	V652A	probably benign	Het
Slc11a2	A	G	15: 100,301,186 (GRCm39)	V289A	probably benign	Het
Smim29	T	C	17: 27,783,223 (GRCm39)	D48G	probably benign	Het
Sox8	T	A	17: 25,789,135 (GRCm39)	Y121F	probably damaging	Het
Taar7a	A	T	10: 23,868,733 (GRCm39)	I216N	probably damaging	Het
Tanc1	T	A	2: 59,622,224 (GRCm39)	S448T	probably benign	Het
Tas2r119	G	A	15: 32,178,226 (GRCm39)	G264D	probably damaging	Het
Trav7-6	A	G	14: 53,954,604 (GRCm39)	K65E	probably benign	Het
Trim17	A	G	11: 58,856,057 (GRCm39)	E38G	probably damaging	Het
Trub2	A	T	2: 29,668,276 (GRCm39)		probably benign	Het
Ttn	T	A	2: 76,571,964 (GRCm39)	M26310L	probably damaging	Het
Unc13c	T	G	9: 73,453,322 (GRCm39)	I1823L	probably benign	Het
Vav2	C	A	2: 27,160,151 (GRCm39)	E728*	probably null	Het
Virma	A	G	4: 11,540,494 (GRCm39)	D1465G	probably benign	Het
Vmn2r72	T	G	7: 85,398,388 (GRCm39)	M531L	probably benign	Het
Vwa3b	G	A	1: 37,203,597 (GRCm39)	V59I	possibly damaging	Het
Xrcc1	G	A	7: 24,271,642 (GRCm39)	E542K	probably benign	Het
Zdhhc6	T	G	19: 55,287,318 (GRCm39)	T381P	probably benign	Het
Zdhhc8	T	C	16: 18,041,141 (GRCm39)	S740G	probably damaging	Het
Zfp106	T	C	2: 120,364,019 (GRCm39)	K819R	probably damaging	Het

Other mutations in Prlr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00429:Prlr	APN	15	10,328,410 (GRCm39)	missense	probably benign	0.00
IGL00688:Prlr	APN	15	10,322,467 (GRCm39)	unclassified	probably benign
IGL01527:Prlr	APN	15	10,329,257 (GRCm39)	missense	probably benign	0.28
IGL01626:Prlr	APN	15	10,328,804 (GRCm39)	missense	probably benign	0.12
IGL01660:Prlr	APN	15	10,317,676 (GRCm39)	missense	probably damaging	1.00
IGL01835:Prlr	APN	15	10,329,129 (GRCm39)	missense	probably damaging	1.00
IGL01926:Prlr	APN	15	10,314,306 (GRCm39)	start codon destroyed	probably null	0.76
IGL01952:Prlr	APN	15	10,328,428 (GRCm39)	missense	possibly damaging	0.95
IGL02306:Prlr	APN	15	10,328,760 (GRCm39)	missense	probably benign	0.05
IGL02394:Prlr	APN	15	10,328,664 (GRCm39)	missense	probably benign	0.03
IGL02430:Prlr	APN	15	10,325,477 (GRCm39)	missense	probably damaging	1.00
IGL02695:Prlr	APN	15	10,328,451 (GRCm39)	missense	probably benign	0.20
IGL02745:Prlr	APN	15	10,328,680 (GRCm39)	missense	possibly damaging	0.50
IGL03193:Prlr	APN	15	10,328,376 (GRCm39)	missense	possibly damaging	0.57
IGL03277:Prlr	APN	15	10,328,887 (GRCm39)	missense	probably benign	0.01
IGL03379:Prlr	APN	15	10,319,403 (GRCm39)	missense	possibly damaging	0.80
PIT4434001:Prlr	UTSW	15	10,328,458 (GRCm39)	missense	probably damaging	1.00
R0057:Prlr	UTSW	15	10,328,509 (GRCm39)	missense	probably damaging	0.99
R0057:Prlr	UTSW	15	10,328,509 (GRCm39)	missense	probably damaging	0.99
R0545:Prlr	UTSW	15	10,317,652 (GRCm39)	missense	probably damaging	1.00
R1236:Prlr	UTSW	15	10,325,367 (GRCm39)	missense	probably benign	0.13
R1352:Prlr	UTSW	15	10,328,872 (GRCm39)	missense	probably benign
R1524:Prlr	UTSW	15	10,319,419 (GRCm39)	missense	probably damaging	0.97
R1537:Prlr	UTSW	15	10,328,364 (GRCm39)	splice site	probably null
R1690:Prlr	UTSW	15	10,317,676 (GRCm39)	missense	probably damaging	1.00
R1773:Prlr	UTSW	15	10,325,404 (GRCm39)	nonsense	probably null
R1789:Prlr	UTSW	15	10,322,622 (GRCm39)	missense	probably benign	0.32
R2421:Prlr	UTSW	15	10,319,343 (GRCm39)	missense	probably damaging	1.00
R4518:Prlr	UTSW	15	10,329,085 (GRCm39)	missense	possibly damaging	0.53
R4621:Prlr	UTSW	15	10,319,462 (GRCm39)	intron	probably benign
R4855:Prlr	UTSW	15	10,328,883 (GRCm39)	missense	probably benign	0.01
R4957:Prlr	UTSW	15	10,319,281 (GRCm39)	missense	probably damaging	1.00
R5053:Prlr	UTSW	15	10,325,471 (GRCm39)	missense	probably benign	0.00
R5731:Prlr	UTSW	15	10,314,221 (GRCm39)	missense	probably benign	0.00
R5749:Prlr	UTSW	15	10,328,804 (GRCm39)	missense	probably benign	0.12
R5806:Prlr	UTSW	15	10,319,290 (GRCm39)	missense	probably damaging	1.00
R5927:Prlr	UTSW	15	10,322,532 (GRCm39)	missense	probably benign	0.42
R6170:Prlr	UTSW	15	10,328,935 (GRCm39)	missense	probably benign	0.05
R6911:Prlr	UTSW	15	10,329,270 (GRCm39)	missense	probably benign
R6935:Prlr	UTSW	15	10,319,388 (GRCm39)	missense	probably damaging	1.00
R7327:Prlr	UTSW	15	10,346,524 (GRCm39)	missense	probably benign	0.00
R7539:Prlr	UTSW	15	10,329,109 (GRCm39)	missense	probably benign	0.11
R7579:Prlr	UTSW	15	10,329,021 (GRCm39)	missense	probably benign	0.08
R7615:Prlr	UTSW	15	10,326,010 (GRCm39)	missense	probably damaging	1.00
R7651:Prlr	UTSW	15	10,328,464 (GRCm39)	missense	probably benign	0.26
R8213:Prlr	UTSW	15	10,329,328 (GRCm39)	missense	possibly damaging	0.95
R8537:Prlr	UTSW	15	10,314,266 (GRCm39)	start gained	probably benign
R9252:Prlr	UTSW	15	10,326,550 (GRCm39)	splice site	probably benign
R9335:Prlr	UTSW	15	10,325,357 (GRCm39)	missense	probably benign	0.08
R9341:Prlr	UTSW	15	10,328,988 (GRCm39)	missense	probably benign
R9343:Prlr	UTSW	15	10,328,988 (GRCm39)	missense	probably benign
Z1176:Prlr	UTSW	15	10,314,341 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CCCGCTGATATGAGTAGAGC -3'
(R):5'- TTCTGGAATCCACCCATAAGCC -3'

Sequencing Primer
(F):5'- GAGCCACAGGAACCCATTTTTCTG -3'
(R):5'- CCAGGAAGACCCAGAGAGAGTTTG -3'

Posted On

2021-10-11