Mutagenetix > Incidental Mutation

Incidental Mutation 'R4752:Prl3c1'

357694

Institutional Source

Beutler Lab

Gene Symbol

Prl3c1

Ensembl Gene

ENSMUSG00000017922

Gene Name

prolactin family 3, subfamily c, member 1

Synonyms

Prlpj, PLP I, PLP-J

MMRRC Submission

042032-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R4752 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

27380643-27387732 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 27387508 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 164 (K164N)

Ref Sequence

ENSEMBL: ENSMUSP00000136890 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018066] [ENSMUST00000110364] [ENSMUST00000178072]

AlphaFold

Q9QUN5

Predicted Effect

probably benign
Transcript: ENSMUST00000018066
AA Change: K184N

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000018066
Gene: ENSMUSG00000017922
AA Change: K184N

Domain	Start	End	E-Value	Type
Pfam:Hormone_1	16	212	1.5e-31	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110364
AA Change: K164N

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

SMART Domains

Protein: ENSMUSP00000105993
Gene: ENSMUSG00000017922
AA Change: K164N

Domain	Start	End	E-Value	Type
Pfam:Hormone_1	2	192	2.9e-31	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000178072
AA Change: K164N

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

SMART Domains

Protein: ENSMUSP00000136890
Gene: ENSMUSG00000017922
AA Change: K164N

Domain	Start	End	E-Value	Type
Pfam:Hormone_1	2	192	2.9e-31	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

99% (68/69)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced female fertility and a male reproductive tract phenotype that includes enlarged testes and seminal vesicles, increased sperm count, increased serum testosterone and luteinizing hormone levels, and abnormal adult Leydig cell differentiation. [provided by MGI curators]

Allele List at MGI

All alleles(1) : Targeted, knock-out(1)

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	C	A	3: 137,775,751 (GRCm39)	Q1647K	possibly damaging	Het
Abcf3	A	G	16: 20,369,326 (GRCm39)	E236G	probably damaging	Het
Adamts17	A	G	7: 66,654,218 (GRCm39)	T483A	probably damaging	Het
Ankrd26	G	T	6: 118,517,426 (GRCm39)	P465Q	probably null	Het
Babam2	C	T	5: 31,859,391 (GRCm39)		probably benign	Het
Bpifb1	T	A	2: 154,058,200 (GRCm39)		probably benign	Het
Ccnb1ip1	T	A	14: 51,031,122 (GRCm39)	T64S	possibly damaging	Het
Cdhr3	A	G	12: 33,136,102 (GRCm39)	V46A	probably damaging	Het
Cep170	A	T	1: 176,584,254 (GRCm39)	D708E	probably benign	Het
Cpsf6	A	T	10: 117,197,273 (GRCm39)		probably benign	Het
Cryzl2	C	T	1: 157,286,219 (GRCm39)		probably null	Het
Dgka	A	T	10: 128,572,528 (GRCm39)	F42I	probably benign	Het
Dip2a	A	T	10: 76,112,491 (GRCm39)	V1059E	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Dock4	T	A	12: 40,496,364 (GRCm39)	I3K	probably benign	Het
Dsc2	A	T	18: 20,171,279 (GRCm39)	N573K	probably damaging	Het
Eif2b4	G	A	5: 31,348,575 (GRCm39)	R213*	probably null	Het
Eif3b	A	G	5: 140,426,856 (GRCm39)	D704G	probably benign	Het
Epn2	T	C	11: 61,437,197 (GRCm39)	E125G	probably damaging	Het
F830016B08Rik	A	G	18: 60,434,153 (GRCm39)	N412S	probably benign	Het
Fbln2	A	G	6: 91,233,225 (GRCm39)	M570V	probably benign	Het
Gm16686	A	T	4: 88,673,725 (GRCm39)		probably benign	Het
Hook2	C	T	8: 85,729,349 (GRCm39)	Q632*	probably null	Het
Ipcef1	A	T	10: 6,929,573 (GRCm39)	W56R	probably damaging	Het
Krt78	T	C	15: 101,856,637 (GRCm39)	I418M	probably benign	Het
Limk1	G	A	5: 134,699,295 (GRCm39)	T154I	probably damaging	Het
Lyl1	A	T	8: 85,430,910 (GRCm39)	T271S	probably benign	Het
Megf6	A	G	4: 154,336,895 (GRCm39)	I333V	probably damaging	Het
Meioc	A	G	11: 102,565,259 (GRCm39)	T236A	probably benign	Het
Nbas	A	G	12: 13,532,538 (GRCm39)	T1749A	possibly damaging	Het
Nfib	T	A	4: 82,215,016 (GRCm39)	Q529L	probably damaging	Het
Nfkb2	G	T	19: 46,296,006 (GRCm39)	E170D	probably benign	Het
Nisch	A	T	14: 30,914,545 (GRCm39)	F42L	probably damaging	Het
Nomo1	T	A	7: 45,706,626 (GRCm39)	Y547N	probably damaging	Het
Or10g3	C	T	14: 52,609,764 (GRCm39)	V249I	probably damaging	Het
Or13a24	T	C	7: 140,154,515 (GRCm39)	S150P	possibly damaging	Het
Or5l14	A	G	2: 87,792,693 (GRCm39)	L181P	probably damaging	Het
Or8g51	T	C	9: 38,609,266 (GRCm39)	Y136C	probably damaging	Het
Pcdh18	T	A	3: 49,709,563 (GRCm39)	N117I	probably damaging	Het
Prkn	T	C	17: 12,223,010 (GRCm39)	S387P	probably benign	Het
Prr23a3	T	A	9: 98,747,700 (GRCm39)	L218Q	probably damaging	Het
Prss43	A	G	9: 110,656,836 (GRCm39)	H114R	possibly damaging	Het
Ptcd3	A	T	6: 71,878,296 (GRCm39)	M142K	probably damaging	Het
Shisa7	G	A	7: 4,837,249 (GRCm39)	T89I	possibly damaging	Het
Slco1a1	C	T	6: 141,892,340 (GRCm39)	A9T	possibly damaging	Het
Srcap	C	T	7: 127,158,172 (GRCm39)		probably benign	Het
Tdg-ps	G	A	15: 82,400,572 (GRCm39)		noncoding transcript	Het
Tgm4	A	G	9: 122,880,451 (GRCm39)	D284G	probably damaging	Het
Tmc1	T	A	19: 20,804,013 (GRCm39)	I355F	probably benign	Het
Tmem121b	A	T	6: 120,469,995 (GRCm39)	F241I	possibly damaging	Het
Tmem200c	T	A	17: 69,149,235 (GRCm39)	V606E	probably benign	Het
Ttc39c	A	G	18: 12,861,782 (GRCm39)	K370R	probably benign	Het
Vmn2r87	G	A	10: 130,314,336 (GRCm39)	Q417*	probably null	Het
Vps45	T	C	3: 95,955,699 (GRCm39)	Y97C	possibly damaging	Het
Zfp407	A	G	18: 84,581,039 (GRCm39)	S25P	probably benign	Het
Zfp566	A	G	7: 29,777,306 (GRCm39)	S292P	probably damaging	Het

Other mutations in Prl3c1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00337:Prl3c1	APN	13	27,384,746 (GRCm39)	missense	probably damaging	0.97
IGL00567:Prl3c1	APN	13	27,384,695 (GRCm39)	missense	possibly damaging	0.82
IGL01105:Prl3c1	APN	13	27,386,408 (GRCm39)	missense	probably benign	0.04
IGL02985:Prl3c1	APN	13	27,383,370 (GRCm39)	missense	probably damaging	0.99
IGL03013:Prl3c1	APN	13	27,383,349 (GRCm39)	missense	probably benign	0.01
G1Funyon:Prl3c1	UTSW	13	27,383,168 (GRCm39)	unclassified	probably benign
H8930:Prl3c1	UTSW	13	27,384,689 (GRCm39)	nonsense	probably null
R0437:Prl3c1	UTSW	13	27,383,447 (GRCm39)	missense	probably benign	0.09
R0630:Prl3c1	UTSW	13	27,384,674 (GRCm39)	splice site	probably benign
R1277:Prl3c1	UTSW	13	27,387,555 (GRCm39)	missense	probably damaging	1.00
R2064:Prl3c1	UTSW	13	27,380,720 (GRCm39)	critical splice donor site	probably null
R2121:Prl3c1	UTSW	13	27,383,325 (GRCm39)	splice site	probably null
R4959:Prl3c1	UTSW	13	27,386,471 (GRCm39)	splice site	probably null
R5863:Prl3c1	UTSW	13	27,387,593 (GRCm39)	makesense	probably null
R7912:Prl3c1	UTSW	13	27,383,367 (GRCm39)	missense	probably benign	0.02
R7913:Prl3c1	UTSW	13	27,383,393 (GRCm39)	missense	probably benign	0.00
R8157:Prl3c1	UTSW	13	27,383,330 (GRCm39)	missense	probably damaging	1.00
R8301:Prl3c1	UTSW	13	27,383,168 (GRCm39)	unclassified	probably benign
R8352:Prl3c1	UTSW	13	27,386,385 (GRCm39)	missense	probably benign	0.01
R8452:Prl3c1	UTSW	13	27,386,385 (GRCm39)	missense	probably benign	0.01
R8898:Prl3c1	UTSW	13	27,387,578 (GRCm39)	missense	possibly damaging	0.93
Z1177:Prl3c1	UTSW	13	27,387,484 (GRCm39)	missense	possibly damaging	0.86

Predicted Primers

PCR Primer
(F):5'- TGCACAATCACATGTATGGAAATCC -3'
(R):5'- TGCTGCAGGAACTCAAGGAATTG -3'

Sequencing Primer
(F):5'- CACATATATGTACACAGAGAGAGAGC -3'
(R):5'- GGAACTCAAGGAATTGACAACTATTC -3'

Posted On

2015-11-11