Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4305001:Prl7d1'

554575

Institutional Source

Beutler Lab

Gene Symbol

Prl7d1

Ensembl Gene

ENSMUSG00000021348

Gene Name

prolactin family 7, subfamily d, member 1

Synonyms

Plfr, PRP, PLF-RP

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

PIT4305001 (G1)

Quality Score

210.009

Status

Not validated

Chromosome

Chromosomal Location

27706337-27716736 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 27714337 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 63 (M63K)

Ref Sequence

ENSEMBL: ENSMUSP00000021776 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021776] [ENSMUST00000224026]

AlphaFold

P04769

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021776
AA Change: M63K

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000021776
Gene: ENSMUSG00000021348
AA Change: M63K

Domain	Start	End	E-Value	Type
Pfam:Hormone_1	17	240	1.1e-78	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000224026
AA Change: M64K

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

Coding Region Coverage

1x: 93.4%
3x: 91.3%
10x: 86.8%
20x: 76.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts4	A	G	1: 171,259,041	N801D	probably benign	Het
Adcy2	T	C	13: 68,678,602	K661R	probably benign	Het
Akap1	A	T	11: 88,844,378	M486K	probably benign	Het
Arhgap40	T	A	2: 158,531,905	I202N	probably benign	Het
C1qtnf2	T	A	11: 43,491,195	L248Q	probably damaging	Het
Casp1	A	T	9: 5,306,135	H340L	probably benign	Het
Cd5	A	G	19: 10,726,386	V104A	possibly damaging	Het
Celsr1	T	A	15: 85,900,937	E3032V	possibly damaging	Het
Cts7	A	G	13: 61,356,572	I59T	probably damaging	Het
Cutc	G	T	19: 43,768,269	A267S	probably damaging	Het
Dmwd	A	G	7: 19,080,718	Q431R	probably damaging	Het
Dnah6	T	C	6: 73,065,755	N3280S	probably benign	Het
Dnah7b	A	T	1: 46,373,348	N4039I	probably damaging	Het
Dnaja4	T	C	9: 54,710,634	I260T	probably benign	Het
Drd5	T	C	5: 38,320,584	F307L	probably damaging	Het
Dsc2	C	T	18: 20,046,243	S256N	probably damaging	Het
Dstyk	G	T	1: 132,455,896	E617*	probably null	Het
Dusp15	G	A	2: 152,945,476	H72Y	probably benign	Het
Dysf	C	T	6: 84,100,234	R660*	probably null	Het
Fbxl13	T	A	5: 21,522,148	I584L	probably benign	Het
Gm10354	T	C	5: 14,978,790	D29G	probably benign	Het
Gsap	T	C	5: 21,186,409	L16P	probably damaging	Het
Hgsnat	C	T	8: 25,945,199	A636T	possibly damaging	Het
Hivep1	A	G	13: 42,181,671	T161A		Het
Hspg2	T	C	4: 137,550,373	S2928P	possibly damaging	Het
Ifi214	G	A	1: 173,527,919	P108S	probably benign	Het
Il17ra	A	T	6: 120,481,406	Y506F	probably damaging	Het
Il9r	T	A	11: 32,194,734	Q53L	probably benign	Het
Irf2bp2	C	T	8: 126,592,659	G260R	probably damaging	Het
Jdp2	T	A	12: 85,638,852	I129N	probably damaging	Het
Kif1b	T	C	4: 149,220,792		probably null	Het
Klrd1	A	G	6: 129,596,707	T120A	unknown	Het
Lfng	A	G	5: 140,612,528	N202D	probably damaging	Het
Ltbp3	A	G	19: 5,752,067	E757G	probably damaging	Het
Ltn1	G	A	16: 87,420,323	P342L	probably damaging	Het
Lum	A	C	10: 97,568,876	Y211S	probably damaging	Het
Ncapd2	G	A	6: 125,184,027	R292*	probably null	Het
Nlrc4	T	C	17: 74,446,309	T360A	probably damaging	Het
Olfr1231	T	C	2: 89,303,383	I70V	probably benign	Het
Olfr850	T	C	9: 19,478,061	Y63C	probably damaging	Het
Palm2	C	A	4: 57,638,029	T22K	possibly damaging	Het
Pde3a	A	G	6: 141,492,310	D1035G	probably benign	Het
Phf20l1	A	T	15: 66,613,052	K322I	possibly damaging	Het
Pik3r3	A	C	4: 116,292,126	N349T	probably benign	Het
Poc1a	A	G	9: 106,349,829	Q420R		Het
Rap1gds1	C	A	3: 138,956,300	M398I	probably benign	Het
Rapgef6	T	A	11: 54,679,377	V1192D	probably damaging	Het
Rif1	T	C	2: 52,111,958	V166A		Het
Robo4	T	C	9: 37,411,391	Y847H	probably damaging	Het
Sardh	T	C	2: 27,228,314	N468S	probably damaging	Het
Sema5a	A	G	15: 32,628,199	T553A	probably benign	Het
Serpina12	A	G	12: 104,035,717	Y247H	probably damaging	Het
Ston2	G	T	12: 91,648,502	D377E	possibly damaging	Het
Syne1	A	G	10: 5,333,023	S1557P	probably damaging	Het
Syt6	C	T	3: 103,575,453	R26W	possibly damaging	Het
Tep1	C	T	14: 50,829,227	G2305R	possibly damaging	Het
Ticrr	A	G	7: 79,679,023	T637A	possibly damaging	Het
Tnn	A	T	1: 160,086,077	F1546Y	possibly damaging	Het
Tpr	A	G	1: 150,440,137	D2055G	possibly damaging	Het
Trim39	A	G	17: 36,268,970	V31A	possibly damaging	Het
Trpc7	G	T	13: 56,887,508	T204K	probably benign	Het
Urgcp	T	C	11: 5,717,996	Y157C	probably damaging	Het
Vmn1r81	A	T	7: 12,260,663	I6K	probably benign	Het

Other mutations in Prl7d1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01390:Prl7d1	APN	13	27710166	missense	possibly damaging	0.91
IGL01735:Prl7d1	APN	13	27714389	missense	possibly damaging	0.83
IGL02139:Prl7d1	APN	13	27712083	missense	probably damaging	1.00
PIT4531001:Prl7d1	UTSW	13	27710178	missense	probably damaging	1.00
R0555:Prl7d1	UTSW	13	27712055	missense	probably benign	0.13
R0625:Prl7d1	UTSW	13	27710140	missense	probably benign	0.10
R0631:Prl7d1	UTSW	13	27710182	missense	probably benign	0.32
R0837:Prl7d1	UTSW	13	27714338	missense	probably benign	0.06
R1403:Prl7d1	UTSW	13	27709197	missense	possibly damaging	0.89
R1403:Prl7d1	UTSW	13	27709197	missense	possibly damaging	0.89
R1459:Prl7d1	UTSW	13	27709257	missense	possibly damaging	0.81
R1643:Prl7d1	UTSW	13	27712131	missense	possibly damaging	0.53
R1691:Prl7d1	UTSW	13	27709382	missense	probably damaging	0.97
R2016:Prl7d1	UTSW	13	27710173	missense	probably damaging	1.00
R3873:Prl7d1	UTSW	13	27716668	start codon destroyed	probably null	0.92
R3874:Prl7d1	UTSW	13	27716668	start codon destroyed	probably null	0.92
R5251:Prl7d1	UTSW	13	27709244	missense	probably benign	0.33
R5275:Prl7d1	UTSW	13	27709247	missense	probably damaging	0.99
R5295:Prl7d1	UTSW	13	27709247	missense	probably damaging	0.99
R5398:Prl7d1	UTSW	13	27710074	missense	probably damaging	1.00
R6798:Prl7d1	UTSW	13	27709397	critical splice acceptor site	probably null
R6818:Prl7d1	UTSW	13	27714471	missense	probably benign	0.07
R6825:Prl7d1	UTSW	13	27710142	missense	probably benign	0.01
R7478:Prl7d1	UTSW	13	27710185	nonsense	probably null
R7795:Prl7d1	UTSW	13	27709280	missense	probably damaging	1.00
R7995:Prl7d1	UTSW	13	27710071	missense	probably benign
R8193:Prl7d1	UTSW	13	27709247	missense
R9313:Prl7d1	UTSW	13	27709199	missense	probably benign
R9424:Prl7d1	UTSW	13	27710202	missense	probably benign	0.00
R9430:Prl7d1	UTSW	13	27714377	missense	possibly damaging	0.80
R9733:Prl7d1	UTSW	13	27714356	missense	probably benign	0.00
R9758:Prl7d1	UTSW	13	27709277	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- ACCTTCTTTTATGTTTGAAAGAGGTA -3'
(R):5'- GCTCCTGTTTCTATATAGCAGGG -3'

Sequencing Primer
(F):5'- CCTGGTCTACAAAGTGAGTTCCAG -3'
(R):5'- AGGGACTCTCCTGATGCTG -3'

Posted On

2019-06-07