Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4531001:Prl7d1'

556466

Institutional Source

Beutler Lab

Gene Symbol

Prl7d1

Ensembl Gene

ENSMUSG00000021348

Gene Name

prolactin family 7, subfamily d, member 1

Synonyms

Plfr, PLF-RP, PRP

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

PIT4531001 (G1)

Quality Score

183.009

Status

Not validated

Chromosome

Chromosomal Location

27892981-27900720 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 27894161 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 135 (L135Q)

Ref Sequence

ENSEMBL: ENSMUSP00000021776 (fasta)

Gene Model

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

AlphaFold

P04769

Predicted Effect

probably damaging
Transcript: ENSMUST00000021776
AA Change: L135Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000021776
Gene: ENSMUSG00000021348
AA Change: L135Q

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000224026
AA Change: L136Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 93.0%
3x: 90.6%
10x: 84.3%
20x: 70.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adpgk	T	G	9: 59,217,600 (GRCm39)	D204E	probably damaging	Het
Aqr	C	A	2: 113,961,215 (GRCm39)	V682L	possibly damaging	Het
Bmper	A	T	9: 23,136,113 (GRCm39)	N65Y	possibly damaging	Het
Calb1	T	C	4: 15,900,925 (GRCm39)	L171P	probably damaging	Het
Card11	T	C	5: 140,892,415 (GRCm39)	M217V	probably damaging	Het
Col11a2	A	G	17: 34,265,412 (GRCm39)		probably null	Het
Dpm1	T	C	2: 168,052,472 (GRCm39)	T255A	probably benign	Het
Efhb	A	G	17: 53,752,803 (GRCm39)	Y440H	probably damaging	Het
Elp2	T	C	18: 24,737,170 (GRCm39)	V40A	probably damaging	Het
Far2	A	T	6: 148,076,629 (GRCm39)	N491Y	possibly damaging	Het
Frem1	T	A	4: 82,868,517 (GRCm39)	H1488L	probably benign	Het
Frrs1l	C	A	4: 56,990,144 (GRCm39)	R43L	unknown	Het
Galnt3	G	A	2: 65,937,432 (GRCm39)	R93C	probably benign	Het
Gm8225	A	G	17: 26,762,363 (GRCm39)	T185A	possibly damaging	Het
H2-Q1	T	C	17: 35,539,892 (GRCm39)	F54L	probably benign	Het
H2-Q1	A	T	17: 35,540,055 (GRCm39)	Q108L	probably damaging	Het
Hoxc12	T	G	15: 102,846,855 (GRCm39)	L249W	probably damaging	Het
Lrrc75b	A	T	10: 75,393,099 (GRCm39)	H83Q	probably damaging	Het
Muc4	A	T	16: 32,576,391 (GRCm39)	T1964S	unknown	Het
Nob1	T	C	8: 108,145,049 (GRCm39)	D142G	probably benign	Het
Or2y1d	T	C	11: 49,321,753 (GRCm39)	V150A	probably benign	Het
Or4p19	A	T	2: 88,242,104 (GRCm39)	H299Q	probably benign	Het
Or4p22	A	T	2: 88,317,601 (GRCm39)	Y175F	possibly damaging	Het
Or5b24	G	A	19: 12,912,641 (GRCm39)	D180N	probably damaging	Het
Or5d16	A	G	2: 87,773,571 (GRCm39)	Y134H	probably damaging	Het
Patj	A	T	4: 98,329,327 (GRCm39)	N527I	probably damaging	Het
Pik3c2g	A	G	6: 139,805,096 (GRCm39)	I543V		Het
Ppp1r2	A	T	16: 31,077,279 (GRCm39)	N150K	probably damaging	Het
Ralgds	G	T	2: 28,435,226 (GRCm39)	E461*	probably null	Het
Ramac	C	T	7: 81,417,327 (GRCm39)	P9L	possibly damaging	Het
Rasa3	T	A	8: 13,655,887 (GRCm39)	H116L	probably benign	Het
Sec24d	C	T	3: 123,136,827 (GRCm39)	P520L	probably damaging	Het
Sfmbt1	T	G	14: 30,518,283 (GRCm39)	S376A	probably benign	Het
Sspo	A	G	6: 48,458,173 (GRCm39)	T3290A	probably benign	Het
Stk25	G	A	1: 93,552,346 (GRCm39)	P345S	probably benign	Het
Sycp2l	A	G	13: 41,300,148 (GRCm39)	E454G	probably null	Het
Tecpr1	T	C	5: 144,150,885 (GRCm39)	K308E	probably damaging	Het
Thtpa	C	T	14: 55,332,962 (GRCm39)	P16S	probably damaging	Het
Trim65	T	A	11: 116,018,535 (GRCm39)	I247F	possibly damaging	Het
Trpc6	T	G	9: 8,610,149 (GRCm39)	Y206D	probably benign	Het
Ttn	G	A	2: 76,703,307 (GRCm39)	T9357I	unknown	Het
Ugt2b1	C	A	5: 87,074,342 (GRCm39)	A6S	probably benign	Het
Vmn1r175	A	G	7: 23,508,603 (GRCm39)	V8A	possibly damaging	Het
Vps13b	T	A	15: 35,878,971 (GRCm39)	I2990N	probably damaging	Het
Xirp2	G	A	2: 67,345,826 (GRCm39)	R2689Q	possibly damaging	Het
Zfp831	T	A	2: 174,488,516 (GRCm39)	Y1064N	possibly damaging	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
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
R7478:Prl7d1	UTSW	13	27,894,168 (GRCm39)	nonsense	probably null
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'- GAGGACTTGCTATGCTCTGTGC -3'
(R):5'- TTTCTCCATTAGGATAGCACATAGC -3'

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

Posted On

2019-06-07