Mutagenetix > Incidental Mutation

Incidental Mutation 'R8446:Prl3d2'

654509

Institutional Source

Beutler Lab

Gene Symbol

Prl3d2

Ensembl Gene

ENSMUSG00000062737

Gene Name

prolactin family 3, subfamily d, member 1

Synonyms

Plib, PL-Ib

MMRRC Submission

067827-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R8446 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

27305681-27311538 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 27307976 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 86 (I86F)

Ref Sequence

ENSEMBL: ENSMUSP00000130458 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080755] [ENSMUST00000164964]

AlphaFold

F6R3P9

Predicted Effect

probably damaging
Transcript: ENSMUST00000080755
AA Change: I85F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000079579
Gene: ENSMUSG00000062737
AA Change: I85F

Domain	Start	End	E-Value	Type
Pfam:Hormone_1	17	224	4.5e-72	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000164964
AA Change: I86F

PolyPhen 2 Score 0.247 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000130458
Gene: ENSMUSG00000062737
AA Change: I86F

Domain	Start	End	E-Value	Type
Pfam:Hormone_1	16	223	3e-69	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf2	G	A	5: 24,771,641 (GRCm39)	R529*	probably null	Het
Afap1	T	A	5: 36,144,645 (GRCm39)	S122T		Het
Arnt	TG	T	3: 95,382,014 (GRCm39)		probably null	Het
Bbs1	G	A	19: 4,947,633 (GRCm39)	T307I	probably benign	Het
Cacna1c	A	T	6: 118,604,411 (GRCm39)	S1439T		Het
Camk4	T	A	18: 33,289,810 (GRCm39)	H152Q	probably damaging	Het
Capn2	A	T	1: 182,311,796 (GRCm39)	M426K	possibly damaging	Het
Chrm3	C	T	13: 9,928,338 (GRCm39)	G233S	probably damaging	Het
Clca3a1	A	T	3: 144,454,248 (GRCm39)	Y461N	probably damaging	Het
Clip1	G	C	5: 123,794,008 (GRCm39)	P12A	probably damaging	Het
Cmya5	A	G	13: 93,230,336 (GRCm39)	L1584P	possibly damaging	Het
Commd5	T	C	15: 76,785,094 (GRCm39)	S164P	probably damaging	Het
Csgalnact1	A	G	8: 68,913,743 (GRCm39)	V154A	probably damaging	Het
Ddias	C	A	7: 92,515,818 (GRCm39)	C25F	probably damaging	Het
Dnah7b	A	T	1: 46,329,875 (GRCm39)	I3240F	probably damaging	Het
Fam186a	T	G	15: 99,845,335 (GRCm39)	D303A	unknown	Het
Igkv8-27	A	G	6: 70,148,932 (GRCm39)	I74T	probably damaging	Het
Itgb2l	G	T	16: 96,233,857 (GRCm39)	Q278K	probably damaging	Het
Itgb7	T	C	15: 102,127,043 (GRCm39)	E464G	probably damaging	Het
Kdm2a	G	A	19: 4,406,916 (GRCm39)	Q116*	probably null	Het
Krtap5-2	TCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACCACAGCCCCCACAGGAACTACA	TCCACAGGAACTACA	7: 141,728,845 (GRCm39)		probably benign	Het
Larp1	T	C	11: 57,942,035 (GRCm39)		probably null	Het
Lnx2	A	G	5: 146,970,169 (GRCm39)	L191S	probably benign	Het
Mtmr7	G	A	8: 41,059,927 (GRCm39)	A62V	possibly damaging	Het
Myh4	T	A	11: 67,144,347 (GRCm39)	M1239K	probably benign	Het
Nckap5l	C	A	15: 99,323,930 (GRCm39)	G858C	probably benign	Het
Nelfa	A	T	5: 34,058,982 (GRCm39)	L262Q	probably damaging	Het
Or2j3	A	G	17: 38,615,638 (GRCm39)	V238A	probably benign	Het
Or8b46	A	T	9: 38,450,964 (GRCm39)	M258L	probably benign	Het
Pdgfa	T	C	5: 138,964,395 (GRCm39)	T211A	unknown	Het
Rpf2	T	A	10: 40,115,752 (GRCm39)	T76S	probably benign	Het
Setbp1	C	T	18: 78,900,971 (GRCm39)	D899N	probably damaging	Het
Slc35c1	T	A	2: 92,284,707 (GRCm39)	E315D	probably benign	Het
Slc6a3	A	T	13: 73,719,674 (GRCm39)	M568L	possibly damaging	Het
Sorbs1	T	C	19: 40,314,602 (GRCm39)	M737V	probably benign	Het
Sox17	A	G	1: 4,562,316 (GRCm39)	Y295H	possibly damaging	Het
Tex44	A	T	1: 86,354,696 (GRCm39)	I202F	possibly damaging	Het
Tinagl1	C	T	4: 130,060,694 (GRCm39)		probably null	Het
Tlr4	T	A	4: 66,757,673 (GRCm39)	N155K	probably damaging	Het
Tmem245	T	C	4: 56,906,261 (GRCm39)	Q548R	probably benign	Het
Topbp1	T	A	9: 103,186,061 (GRCm39)	F68I	probably damaging	Het
Trim67	G	T	8: 125,520,730 (GRCm39)	A31S	probably damaging	Het
Triobp	C	T	15: 78,878,326 (GRCm39)	H1750Y	possibly damaging	Het
Ttn	A	C	2: 76,778,553 (GRCm39)	M1316R	unknown	Het
Usp40	T	C	1: 87,906,190 (GRCm39)	T682A	probably benign	Het
Wfs1	A	T	5: 37,128,953 (GRCm39)	D272E	probably benign	Het
Zfp763	A	T	17: 33,238,473 (GRCm39)	M224K	probably benign	Het

Other mutations in Prl3d2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00899:Prl3d2	APN	13	27,306,332 (GRCm39)	missense	probably damaging	1.00
IGL01362:Prl3d2	APN	13	27,306,438 (GRCm39)	nonsense	probably null
IGL02647:Prl3d2	APN	13	27,309,999 (GRCm39)	missense	probably benign	0.06
IGL02751:Prl3d2	APN	13	27,310,014 (GRCm39)	critical splice donor site	probably null
IGL02992:Prl3d2	APN	13	27,311,266 (GRCm39)	missense	probably benign	0.00
R1116:Prl3d2	UTSW	13	27,309,985 (GRCm39)	missense	probably damaging	1.00
R1500:Prl3d2	UTSW	13	27,305,689 (GRCm39)	unclassified	probably benign
R4713:Prl3d2	UTSW	13	27,306,379 (GRCm39)	missense	probably benign
R5193:Prl3d2	UTSW	13	27,306,312 (GRCm39)	missense	possibly damaging	0.87
R6386:Prl3d2	UTSW	13	27,311,286 (GRCm39)	missense	probably damaging	0.97
R7830:Prl3d2	UTSW	13	27,310,000 (GRCm39)	missense	probably benign	0.00
R7999:Prl3d2	UTSW	13	27,307,949 (GRCm39)	missense	probably benign	0.00
R8837:Prl3d2	UTSW	13	27,307,926 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GGGGACAATAGAATACTAGTTTGTAC -3'
(R):5'- TCCCAGGTGACAAACAGAAG -3'

Sequencing Primer
(F):5'- ACATGTATGAAATAAAAGGTAGGCTC -3'
(R):5'- CAGAAGGTTATGATGAAACTGGCTTC -3'

Posted On

2020-10-20