Mutagenetix > Incidental Mutation

Incidental Mutation 'R1643:Prl7d1'

173698

Institutional Source

Beutler Lab

Gene Symbol

Prl7d1

Ensembl Gene

ENSMUSG00000021348

Gene Name

prolactin family 7, subfamily d, member 1

Synonyms

Plfr, PRP, PLF-RP

MMRRC Submission

039679-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1643 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

27706337-27716736 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 27712131 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 88 (S88G)

Ref Sequence

ENSEMBL: ENSMUSP00000153033 (fasta)

Gene Model

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

AlphaFold

P04769

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021776
AA Change: S87G

PolyPhen 2 Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000021776
Gene: ENSMUSG00000021348
AA Change: S87G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145879

Predicted Effect

possibly damaging
Transcript: ENSMUST00000224026
AA Change: S88G

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.5%

Validation Efficiency

99% (74/75)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700037C18Rik	T	A	16: 3,907,078 (GRCm38)	K45*	probably null	Het
Abcc1	T	A	16: 14,413,368 (GRCm38)	Y457N	probably damaging	Het
Actr3b	A	G	5: 25,812,011 (GRCm38)	D19G	probably damaging	Het
Adam39	T	C	8: 40,826,486 (GRCm38)	V638A	possibly damaging	Het
Adamts1	G	T	16: 85,796,817 (GRCm38)		probably benign	Het
AI661453	A	G	17: 47,467,866 (GRCm38)		probably benign	Het
Ank3	G	A	10: 69,884,802 (GRCm38)	S565N	probably benign	Het
Casd1	A	G	6: 4,621,243 (GRCm38)	E267G	probably benign	Het
Casr	T	C	16: 36,500,205 (GRCm38)	K527R	probably damaging	Het
Cep128	A	C	12: 91,325,532 (GRCm38)	S248A	probably damaging	Het
Clic4	A	G	4: 135,238,895 (GRCm38)	V50A	possibly damaging	Het
Cylc2	C	T	4: 51,225,173 (GRCm38)	A36V	probably benign	Het
Derl1	T	A	15: 57,878,559 (GRCm38)	M127L	probably benign	Het
Dnah6	A	G	6: 73,044,752 (GRCm38)	V3529A	possibly damaging	Het
Dock1	G	T	7: 135,098,779 (GRCm38)	L1089F	probably damaging	Het
Edil3	T	A	13: 89,289,576 (GRCm38)		probably null	Het
Ephb1	A	G	9: 101,996,825 (GRCm38)	V550A	probably damaging	Het
Fcho2	G	A	13: 98,784,816 (GRCm38)	T187I	probably benign	Het
Gas6	T	C	8: 13,465,902 (GRCm38)		probably null	Het
Gdf7	T	C	12: 8,297,971 (GRCm38)	Y442C	probably damaging	Het
Gm11567	G	A	11: 99,879,797 (GRCm38)	G187E	unknown	Het
Gm11639	A	T	11: 104,698,978 (GRCm38)	T134S	probably benign	Het
Gm8674	T	C	13: 49,901,358 (GRCm38)		noncoding transcript	Het
Ift80	T	A	3: 68,916,157 (GRCm38)	I591F	probably benign	Het
Kcnn3	C	T	3: 89,520,497 (GRCm38)	S10L	unknown	Het
Keg1	A	G	19: 12,719,042 (GRCm38)	I197V	probably benign	Het
Klhdc9	A	G	1: 171,359,466 (GRCm38)		probably null	Het
Klhl11	A	G	11: 100,463,015 (GRCm38)	V660A	probably benign	Het
Lamc1	T	C	1: 153,258,072 (GRCm38)		probably benign	Het
Lrrc73	G	T	17: 46,255,340 (GRCm38)		probably null	Het
Lrriq1	G	A	10: 103,214,824 (GRCm38)	S689L	probably benign	Het
Magi2	A	G	5: 20,705,506 (GRCm38)		probably benign	Het
Meis1	A	G	11: 19,016,278 (GRCm38)	S32P	probably benign	Het
Mia2	A	G	12: 59,179,845 (GRCm38)		probably null	Het
Mlph	T	C	1: 90,941,734 (GRCm38)	L486P	probably damaging	Het
Myh10	A	G	11: 68,792,010 (GRCm38)	E1090G	probably damaging	Het
Mylk	T	C	16: 34,875,635 (GRCm38)	S247P	probably benign	Het
Naip2	C	T	13: 100,161,981 (GRCm38)	A516T	possibly damaging	Het
Ndufc1	T	C	3: 51,408,243 (GRCm38)	T25A	probably benign	Het
Nedd4l	A	G	18: 65,198,641 (GRCm38)	Y636C	probably damaging	Het
Nfib	A	T	4: 82,498,679 (GRCm38)	Y40N	probably damaging	Het
Niban3	A	G	8: 71,600,164 (GRCm38)	D94G	probably benign	Het
Nisch	T	C	14: 31,173,168 (GRCm38)	D1057G	probably damaging	Het
P3h2	T	C	16: 25,972,291 (GRCm38)	H475R	probably benign	Het
Pde6c	C	A	19: 38,161,958 (GRCm38)	T517K	possibly damaging	Het
Piezo2	T	C	18: 63,082,915 (GRCm38)	I994V	probably benign	Het
Pik3r4	A	G	9: 105,687,152 (GRCm38)	D1315G	possibly damaging	Het
Pip5k1c	T	G	10: 81,314,994 (GRCm38)	V46G	probably damaging	Het
Pole	A	G	5: 110,317,845 (GRCm38)	E1213G	probably damaging	Het
Prodh	T	A	16: 18,081,069 (GRCm38)	N72I	probably benign	Het
Prrc2a	G	A	17: 35,156,954 (GRCm38)	R907C	probably damaging	Het
Ptger2	T	A	14: 44,988,966 (GRCm38)	M1K	probably null	Het
Samd4b	G	C	7: 28,423,616 (GRCm38)	Q6E	probably damaging	Het
Sec24a	C	T	11: 51,704,385 (GRCm38)	R916H	probably benign	Het
Slc12a5	C	A	2: 164,994,027 (GRCm38)	D865E	probably benign	Het
Slc17a3	T	C	13: 23,857,198 (GRCm38)		probably benign	Het
Ssrp1	T	C	2: 85,041,185 (GRCm38)	V317A	possibly damaging	Het
Stim1	A	G	7: 102,386,100 (GRCm38)	D95G	possibly damaging	Het
Taok2	A	T	7: 126,875,938 (GRCm38)		probably benign	Het
Tcof1	T	G	18: 60,816,228 (GRCm38)	K1205T	possibly damaging	Het
Trim43c	C	T	9: 88,847,477 (GRCm38)	R325C	probably damaging	Het
Trub2	T	G	2: 29,777,936 (GRCm38)	T231P	probably damaging	Het
Ttn	A	T	2: 76,811,243 (GRCm38)	L5176Q	possibly damaging	Het
Uty	T	A	Y: 1,152,054 (GRCm38)	D724V	probably damaging	Het
Vmn2r98	A	G	17: 19,080,908 (GRCm38)	D724G	probably damaging	Het
Wdfy3	A	G	5: 101,875,915 (GRCm38)	I2442T	possibly damaging	Het
Wdfy4	T	C	14: 33,073,585 (GRCm38)		probably null	Het
Zfp280b	A	G	10: 76,039,610 (GRCm38)	H441R	probably damaging	Het
Zfp60	A	T	7: 27,736,975 (GRCm38)	Q7L	probably damaging	Het
Zzef1	T	C	11: 72,826,202 (GRCm38)	L406S	probably damaging	Het

Other mutations in Prl7d1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01390:Prl7d1	APN	13	27,710,166 (GRCm38)	missense	possibly damaging	0.91
IGL01735:Prl7d1	APN	13	27,714,389 (GRCm38)	missense	possibly damaging	0.83
IGL02139:Prl7d1	APN	13	27,712,083 (GRCm38)	missense	probably damaging	1.00
PIT4305001:Prl7d1	UTSW	13	27,714,337 (GRCm38)	missense	possibly damaging	0.90
PIT4531001:Prl7d1	UTSW	13	27,710,178 (GRCm38)	missense	probably damaging	1.00
R0555:Prl7d1	UTSW	13	27,712,055 (GRCm38)	missense	probably benign	0.13
R0625:Prl7d1	UTSW	13	27,710,140 (GRCm38)	missense	probably benign	0.10
R0631:Prl7d1	UTSW	13	27,710,182 (GRCm38)	missense	probably benign	0.32
R0837:Prl7d1	UTSW	13	27,714,338 (GRCm38)	missense	probably benign	0.06
R1403:Prl7d1	UTSW	13	27,709,197 (GRCm38)	missense	possibly damaging	0.89
R1403:Prl7d1	UTSW	13	27,709,197 (GRCm38)	missense	possibly damaging	0.89
R1459:Prl7d1	UTSW	13	27,709,257 (GRCm38)	missense	possibly damaging	0.81
R1691:Prl7d1	UTSW	13	27,709,382 (GRCm38)	missense	probably damaging	0.97
R2016:Prl7d1	UTSW	13	27,710,173 (GRCm38)	missense	probably damaging	1.00
R3873:Prl7d1	UTSW	13	27,716,668 (GRCm38)	start codon destroyed	probably null	0.92
R3874:Prl7d1	UTSW	13	27,716,668 (GRCm38)	start codon destroyed	probably null	0.92
R5251:Prl7d1	UTSW	13	27,709,244 (GRCm38)	missense	probably benign	0.33
R5275:Prl7d1	UTSW	13	27,709,247 (GRCm38)	missense	probably damaging	0.99
R5295:Prl7d1	UTSW	13	27,709,247 (GRCm38)	missense	probably damaging	0.99
R5398:Prl7d1	UTSW	13	27,710,074 (GRCm38)	missense	probably damaging	1.00
R6798:Prl7d1	UTSW	13	27,709,397 (GRCm38)	critical splice acceptor site	probably null
R6818:Prl7d1	UTSW	13	27,714,471 (GRCm38)	missense	probably benign	0.07
R6825:Prl7d1	UTSW	13	27,710,142 (GRCm38)	missense	probably benign	0.01
R7478:Prl7d1	UTSW	13	27,710,185 (GRCm38)	nonsense	probably null
R7795:Prl7d1	UTSW	13	27,709,280 (GRCm38)	missense	probably damaging	1.00
R7995:Prl7d1	UTSW	13	27,710,071 (GRCm38)	missense	probably benign
R8193:Prl7d1	UTSW	13	27,709,247 (GRCm38)	missense
R9313:Prl7d1	UTSW	13	27,709,199 (GRCm38)	missense	probably benign
R9424:Prl7d1	UTSW	13	27,710,202 (GRCm38)	missense	probably benign	0.00
R9430:Prl7d1	UTSW	13	27,714,377 (GRCm38)	missense	possibly damaging	0.80
R9733:Prl7d1	UTSW	13	27,714,356 (GRCm38)	missense	probably benign	0.00
R9758:Prl7d1	UTSW	13	27,709,277 (GRCm38)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- GCCAGCTTATCAAAGCCAGGGGAC -3'
(R):5'- GCTTCTGAGAATAGGGTGTGCAAACAAT -3'

Sequencing Primer
(F):5'- AGCCAGGGGACTGCTTTAG -3'
(R):5'- GCCTTAGACTCAAATCACACTG -3'

Posted On

2014-04-24