Mutagenetix > Incidental Mutation

Incidental Mutation 'R7478:Prl7d1'

579627

Institutional Source

Beutler Lab

Gene Symbol

Prl7d1

Ensembl Gene

ENSMUSG00000021348

Gene Name

prolactin family 7, subfamily d, member 1

Synonyms

Plfr, PLF-RP, PRP

MMRRC Submission

045552-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7478 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

27892981-27900720 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 27894168 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 133 (E133*)

Ref Sequence

ENSEMBL: ENSMUSP00000021776 (fasta)

Gene Model

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

AlphaFold

P04769

Predicted Effect

probably null
Transcript: ENSMUST00000021776
AA Change: E133*

SMART Domains

Protein: ENSMUSP00000021776
Gene: ENSMUSG00000021348
AA Change: E133*

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

Predicted Effect

probably null
Transcript: ENSMUST00000224026
AA Change: E134*

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (50/50)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahcyl2	A	G	6: 29,903,266 (GRCm39)	R516G	probably damaging	Het
Ak9	T	C	10: 41,265,087 (GRCm39)	F948S		Het
Aldh3b3	A	G	19: 4,014,549 (GRCm39)	M95V	probably benign	Het
Ankrd34a	T	C	3: 96,505,816 (GRCm39)	L340P	possibly damaging	Het
Arid1a	T	A	4: 133,412,482 (GRCm39)	R1186W	unknown	Het
Arpc4	T	A	6: 113,361,092 (GRCm39)	M95K	possibly damaging	Het
Atrnl1	A	G	19: 57,684,744 (GRCm39)	E790G	possibly damaging	Het
C130074G19Rik	T	C	1: 184,606,624 (GRCm39)	N103D	probably damaging	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
Camsap2	T	C	1: 136,198,678 (GRCm39)	T782A		Het
Catsperd	A	G	17: 56,971,055 (GRCm39)	I706M	probably benign	Het
Cbx2	T	C	11: 118,919,941 (GRCm39)	V502A	probably damaging	Het
Cd72	T	G	4: 43,454,515 (GRCm39)	I5L	possibly damaging	Het
Celsr3	A	G	9: 108,720,777 (GRCm39)	Y2609C	probably benign	Het
Col19a1	C	T	1: 24,356,788 (GRCm39)	G632R	probably damaging	Het
Efcc1	T	C	6: 87,707,972 (GRCm39)	V33A	probably damaging	Het
Eif4enif1	T	A	11: 3,177,709 (GRCm39)	L367*	probably null	Het
Eml2	T	A	7: 18,940,066 (GRCm39)	L627*	probably null	Het
F13b	A	G	1: 139,435,433 (GRCm39)	T193A	probably benign	Het
Hif3a	G	A	7: 16,776,560 (GRCm39)	T462I	possibly damaging	Het
Ifna7	T	A	4: 88,734,913 (GRCm39)	I150N	probably damaging	Het
Man2b2	G	A	5: 36,967,657 (GRCm39)	H904Y	probably damaging	Het
Midn	A	G	10: 79,991,156 (GRCm39)	T389A	possibly damaging	Het
Myo19	A	T	11: 84,776,626 (GRCm39)	H94L	probably benign	Het
Naglu	T	C	11: 100,962,725 (GRCm39)	Y177H	probably damaging	Het
Nek1	T	A	8: 61,583,179 (GRCm39)	D1272E	probably benign	Het
Nxn	A	T	11: 76,152,378 (GRCm39)	V372E	probably damaging	Het
Obscn	G	A	11: 58,984,242 (GRCm39)	R1738C	probably damaging	Het
Pcm1	A	G	8: 41,714,410 (GRCm39)	E266G	probably benign	Het
Pkd1l1	T	C	11: 8,879,441 (GRCm39)	N920S		Het
Pkd1l3	C	A	8: 110,359,947 (GRCm39)	T944K	probably damaging	Het
Qser1	G	A	2: 104,619,859 (GRCm39)	L228F	probably damaging	Het
Rasa3	A	G	8: 13,664,605 (GRCm39)	I69T	possibly damaging	Het
Rb1	A	T	14: 73,506,577 (GRCm39)	S391T	probably damaging	Het
Rnf220	T	C	4: 117,153,333 (GRCm39)	Y301C	possibly damaging	Het
Sertm1	A	G	3: 54,806,749 (GRCm39)	V92A	possibly damaging	Het
Slfn5	A	G	11: 82,851,442 (GRCm39)	K580E	probably damaging	Het
Stard4	T	C	18: 33,338,377 (GRCm39)	Y111C	unknown	Het
Tagap	C	A	17: 8,152,422 (GRCm39)	Q536K	possibly damaging	Het
Tank	T	C	2: 61,480,513 (GRCm39)	C351R	probably damaging	Het
Tarbp2	A	T	15: 102,430,169 (GRCm39)	M144L	probably benign	Het
Tdrd9	T	C	12: 111,951,476 (GRCm39)	Y89H	probably damaging	Het
Tecpr2	C	A	12: 110,934,873 (GRCm39)	T1373K	probably benign	Het
Tle1	G	A	4: 72,055,349 (GRCm39)	P434L	probably damaging	Het
Tmed5	A	G	5: 108,272,495 (GRCm39)	V201A	probably benign	Het
Ust	A	G	10: 8,266,650 (GRCm39)		probably null	Het
Vmn2r94	T	C	17: 18,477,767 (GRCm39)	T215A	probably benign	Het
Zfp273	A	T	13: 67,973,251 (GRCm39)	Q126H	probably benign	Het
Zfp764l1	C	T	7: 126,992,496 (GRCm39)	C38Y	probably null	Het

Other mutations in Prl7d1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01390:Prl7d1	APN	13	27,894,149 (GRCm39)	missense	possibly damaging	0.91
IGL01735:Prl7d1	APN	13	27,898,372 (GRCm39)	missense	possibly damaging	0.83
IGL02139:Prl7d1	APN	13	27,896,066 (GRCm39)	missense	probably damaging	1.00
PIT4305001:Prl7d1	UTSW	13	27,898,320 (GRCm39)	missense	possibly damaging	0.90
PIT4531001:Prl7d1	UTSW	13	27,894,161 (GRCm39)	missense	probably damaging	1.00
R0555:Prl7d1	UTSW	13	27,896,038 (GRCm39)	missense	probably benign	0.13
R0625:Prl7d1	UTSW	13	27,894,123 (GRCm39)	missense	probably benign	0.10
R0631:Prl7d1	UTSW	13	27,894,165 (GRCm39)	missense	probably benign	0.32
R0837:Prl7d1	UTSW	13	27,898,321 (GRCm39)	missense	probably benign	0.06
R1403:Prl7d1	UTSW	13	27,893,180 (GRCm39)	missense	possibly damaging	0.89
R1403:Prl7d1	UTSW	13	27,893,180 (GRCm39)	missense	possibly damaging	0.89
R1459:Prl7d1	UTSW	13	27,893,240 (GRCm39)	missense	possibly damaging	0.81
R1643:Prl7d1	UTSW	13	27,896,114 (GRCm39)	missense	possibly damaging	0.53
R1691:Prl7d1	UTSW	13	27,893,365 (GRCm39)	missense	probably damaging	0.97
R2016:Prl7d1	UTSW	13	27,894,156 (GRCm39)	missense	probably damaging	1.00
R3873:Prl7d1	UTSW	13	27,900,651 (GRCm39)	start codon destroyed	probably null	0.92
R3874:Prl7d1	UTSW	13	27,900,651 (GRCm39)	start codon destroyed	probably null	0.92
R5251:Prl7d1	UTSW	13	27,893,227 (GRCm39)	missense	probably benign	0.33
R5275:Prl7d1	UTSW	13	27,893,230 (GRCm39)	missense	probably damaging	0.99
R5295:Prl7d1	UTSW	13	27,893,230 (GRCm39)	missense	probably damaging	0.99
R5398:Prl7d1	UTSW	13	27,894,057 (GRCm39)	missense	probably damaging	1.00
R6798:Prl7d1	UTSW	13	27,893,380 (GRCm39)	critical splice acceptor site	probably null
R6818:Prl7d1	UTSW	13	27,898,454 (GRCm39)	missense	probably benign	0.07
R6825:Prl7d1	UTSW	13	27,894,125 (GRCm39)	missense	probably benign	0.01
R7795:Prl7d1	UTSW	13	27,893,263 (GRCm39)	missense	probably damaging	1.00
R7995:Prl7d1	UTSW	13	27,894,054 (GRCm39)	missense	probably benign
R8193:Prl7d1	UTSW	13	27,893,230 (GRCm39)	missense
R9313:Prl7d1	UTSW	13	27,893,182 (GRCm39)	missense	probably benign
R9424:Prl7d1	UTSW	13	27,894,185 (GRCm39)	missense	probably benign	0.00
R9430:Prl7d1	UTSW	13	27,898,360 (GRCm39)	missense	possibly damaging	0.80
R9733:Prl7d1	UTSW	13	27,898,339 (GRCm39)	missense	probably benign	0.00
R9758:Prl7d1	UTSW	13	27,893,260 (GRCm39)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- CTGTGCATATCTTGTAATGGAGAG -3'
(R):5'- TGCAAACTACAGGTGACCAGTC -3'

Sequencing Primer
(F):5'- GCCTAACTTTTGATCTTGCAAAGTG -3'
(R):5'- GGTGACCAGTCTAACTTATACACTGC -3'

Posted On

2019-10-07