Mutagenetix > Incidental Mutation

Incidental Mutation 'R7873:Preb'

608233

Institutional Source

Beutler Lab

Gene Symbol

Preb

Ensembl Gene

ENSMUSG00000045302

Gene Name

prolactin regulatory element binding

Synonyms

MMRRC Submission

045925-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.954) question?

Stock #

R7873 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

31109011-31117700 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 31116109 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 166 (N166I)

Ref Sequence

ENSEMBL: ENSMUSP00000074387 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074840] [ENSMUST00000202567]

AlphaFold

Q9WUQ2

Predicted Effect

probably benign
Transcript: ENSMUST00000074840
AA Change: N166I

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000074387
Gene: ENSMUSG00000045302
AA Change: N166I

Domain	Start	End	E-Value	Type
low complexity region	24	41	N/A	INTRINSIC
low complexity region	99	114	N/A	INTRINSIC
WD40	143	182	4.48e-2	SMART
WD40	185	223	4.88e-3	SMART
WD40	289	328	4.42e1	SMART
Blast:WD40	332	382	5e-26	BLAST
transmembrane domain	391	413	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000201002

Predicted Effect

probably benign
Transcript: ENSMUST00000202567
AA Change: N166I

PolyPhen 2 Score 0.248 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000144263
Gene: ENSMUSG00000045302
AA Change: N166I

Domain	Start	End	E-Value	Type
low complexity region	24	41	N/A	INTRINSIC
low complexity region	99	114	N/A	INTRINSIC
WD40	143	182	4.48e-2	SMART
WD40	185	223	4.88e-3	SMART
WD40	289	328	4.42e1	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that specifically binds to a Pit1-binding element of the prolactin (PRL) promoter. This protein may act as a transcriptional regulator and is thought to be involved in some of the developmental abnormalities observed in patients with partial trisomy 2p. This gene overlaps the abhydrolase domain containing 1 (ABHD1) gene on the opposite strand. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	A	T	16: 4,684,091 (GRCm39)	I229F	probably benign	Het
Abca14	T	C	7: 119,888,792 (GRCm39)	L1246S	probably benign	Het
Abtb3	T	C	10: 85,466,989 (GRCm39)	V685A	possibly damaging	Het
Acacb	A	C	5: 114,361,339 (GRCm39)	S1340R	possibly damaging	Het
Ankrd6	A	T	4: 32,806,499 (GRCm39)	S585T	possibly damaging	Het
Ark2c	T	C	18: 77,554,449 (GRCm39)	D248G	possibly damaging	Het
Ccdc54	A	G	16: 50,410,672 (GRCm39)	V198A	probably benign	Het
Cnga4	A	G	7: 105,056,249 (GRCm39)	I387V	probably damaging	Het
Creg1	G	T	1: 165,597,448 (GRCm39)	D141Y	probably damaging	Het
Cxcr2	T	C	1: 74,198,166 (GRCm39)	L220P	probably benign	Het
Dennd5a	T	A	7: 109,526,141 (GRCm39)	I344F	probably damaging	Het
Dysf	A	G	6: 84,060,747 (GRCm39)	N448S	probably benign	Het
Efcab6	A	G	15: 83,902,826 (GRCm39)		probably null	Het
Elf2	C	A	3: 51,164,099 (GRCm39)	V489F	probably damaging	Het
Elmod2	G	T	8: 84,057,848 (GRCm39)	H12N	probably benign	Het
Eln	C	T	5: 134,740,041 (GRCm39)	G618E	unknown	Het
Fbxo33	G	T	12: 59,265,807 (GRCm39)	S153R	possibly damaging	Het
Fbxw7	A	T	3: 84,833,071 (GRCm39)	I38F	possibly damaging	Het
Flnc	G	A	6: 29,456,990 (GRCm39)	V2329I	possibly damaging	Het
Fsip2	C	T	2: 82,779,856 (GRCm39)	R201C	probably damaging	Het
Gpr155	T	C	2: 73,173,934 (GRCm39)	E825G	possibly damaging	Het
Grk3	A	T	5: 113,077,552 (GRCm39)	M405K	probably benign	Het
H2bc7	A	T	13: 23,758,244 (GRCm39)	Y41N	probably damaging	Het
Hace1	T	C	10: 45,548,883 (GRCm39)	V597A	possibly damaging	Het
Ido1	A	G	8: 25,074,758 (GRCm39)	F295S	probably damaging	Het
Ighe	T	A	12: 113,234,942 (GRCm39)	E406V		Het
Ighv1-31	G	T	12: 114,793,274 (GRCm39)	A15E	probably benign	Het
Ighv1-75	A	T	12: 115,797,988 (GRCm39)	L10H	probably damaging	Het
Inpp5e	T	A	2: 26,297,957 (GRCm39)	K215*	probably null	Het
Iqcn	A	G	8: 71,163,989 (GRCm39)	M1061V	probably benign	Het
Krt18	C	T	15: 101,939,391 (GRCm39)	T288I	probably benign	Het
Lrwd1	A	T	5: 136,152,792 (GRCm39)	I490N	probably benign	Het
Macf1	T	A	4: 123,398,344 (GRCm39)		probably null	Het
Mapk8ip3	A	G	17: 25,125,146 (GRCm39)	V482A	probably benign	Het
Mcidas	G	A	13: 113,135,521 (GRCm39)	G315S	probably damaging	Het
Mdk	A	G	2: 91,761,773 (GRCm39)	F7S	probably benign	Het
Mycbp2	G	A	14: 103,393,582 (GRCm39)	P2993L	probably damaging	Het
Niban3	A	T	8: 72,054,892 (GRCm39)	I193F	probably damaging	Het
Nme4	A	T	17: 26,312,862 (GRCm39)	Y99N	probably damaging	Het
Nr1d2	G	A	14: 18,216,656 (GRCm38)	R171*	probably null	Het
Or10h28	A	G	17: 33,488,348 (GRCm39)	I217V	probably benign	Het
Osgep	G	T	14: 51,153,347 (GRCm39)	T326K	probably damaging	Het
Pdgfd	C	T	9: 6,337,271 (GRCm39)	T201M	probably benign	Het
Pdk4	T	C	6: 5,487,086 (GRCm39)	D320G	probably benign	Het
Pelp1	A	T	11: 70,285,552 (GRCm39)	V772D	probably damaging	Het
Pkdrej	T	A	15: 85,700,724 (GRCm39)	R1737S	probably benign	Het
Ppp1r13b	A	T	12: 111,801,320 (GRCm39)	Y578N	probably damaging	Het
Ppp1r3b	A	C	8: 35,851,329 (GRCm39)	K56T	probably benign	Het
Prdm11	G	T	2: 92,819,628 (GRCm39)	H261N	probably benign	Het
Psd3	T	C	8: 68,335,634 (GRCm39)	K681R	possibly damaging	Het
Ptgs1	G	A	2: 36,141,292 (GRCm39)	V580I	probably damaging	Het
Ptpro	T	A	6: 137,407,737 (GRCm39)	S949T	probably benign	Het
Pum2	A	G	12: 8,798,802 (GRCm39)	E973G	possibly damaging	Het
Rdh1	A	G	10: 127,595,892 (GRCm39)	D29G	probably benign	Het
Rel	A	G	11: 23,692,957 (GRCm39)	S359P	probably benign	Het
Ryr3	T	A	2: 112,560,773 (GRCm39)	H2996L	probably benign	Het
Scarb1	C	T	5: 125,371,103 (GRCm39)	C323Y	probably damaging	Het
Scn5a	C	T	9: 119,327,193 (GRCm39)	R1309H	probably damaging	Het
Serpinb12	T	A	1: 106,881,469 (GRCm39)	V202E	probably damaging	Het
Shh	A	G	5: 28,663,298 (GRCm39)	L290P	possibly damaging	Het
Six4	CT	C	12: 73,151,013 (GRCm39)		probably benign	Het
Slc34a2	G	A	5: 53,215,714 (GRCm39)	G42R	probably benign	Het
Slc41a1	A	G	1: 131,758,561 (GRCm39)	N68D	possibly damaging	Het
Slc7a6os	A	G	8: 106,937,356 (GRCm39)	S64P	probably damaging	Het
Slco1a7	T	A	6: 141,673,448 (GRCm39)	L363F	probably benign	Het
Smc1b	A	G	15: 84,994,851 (GRCm39)		probably null	Het
Snx9	T	C	17: 5,968,751 (GRCm39)	V349A	possibly damaging	Het
Sstr1	G	T	12: 58,260,313 (GRCm39)	G312V	probably damaging	Het
Tnfsf10	A	G	3: 27,389,808 (GRCm39)	I290V	probably benign	Het
Trio	A	G	15: 27,805,770 (GRCm39)	C1717R	possibly damaging	Het
Ttbk1	T	G	17: 46,757,494 (GRCm39)	S1047R	probably damaging	Het
Ttn	T	C	2: 76,746,877 (GRCm39)	D4724G	probably benign	Het
Uba1y	T	A	Y: 825,542 (GRCm39)	N301K	probably benign	Het
Unc5c	A	G	3: 141,533,310 (GRCm39)	T853A	probably benign	Het
Vmn2r45	T	A	7: 8,486,074 (GRCm39)	I405L	probably benign	Het
Wdr37	A	T	13: 8,855,969 (GRCm39)	M458K	probably damaging	Het
Zdhhc14	A	T	17: 5,762,729 (GRCm39)	Y211F	probably benign	Het
Zfp108	G	A	7: 23,960,758 (GRCm39)	V450I	probably benign	Het
Zfp212	A	T	6: 47,907,860 (GRCm39)	R280*	probably null	Het
Zfp940	A	T	7: 29,535,042 (GRCm39)	V108E	unknown	Het

Other mutations in Preb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00157:Preb	APN	5	31,113,308 (GRCm39)	missense	probably damaging	1.00
IGL01344:Preb	APN	5	31,113,388 (GRCm39)	missense	probably damaging	0.99
IGL03383:Preb	APN	5	31,115,665 (GRCm39)	missense	probably damaging	1.00
R1520:Preb	UTSW	5	31,115,868 (GRCm39)	missense	probably benign	0.14
R1987:Preb	UTSW	5	31,116,157 (GRCm39)	missense	probably damaging	1.00
R2327:Preb	UTSW	5	31,115,849 (GRCm39)	missense	probably damaging	0.99
R5607:Preb	UTSW	5	31,117,307 (GRCm39)	splice site	probably benign
R5769:Preb	UTSW	5	31,115,635 (GRCm39)	nonsense	probably null
R5831:Preb	UTSW	5	31,116,208 (GRCm39)	missense	probably benign
R6271:Preb	UTSW	5	31,115,395 (GRCm39)	missense	probably damaging	0.99
R6539:Preb	UTSW	5	31,113,420 (GRCm39)	missense	probably benign	0.03
R7575:Preb	UTSW	5	31,115,839 (GRCm39)	missense	probably damaging	1.00
R8417:Preb	UTSW	5	31,117,461 (GRCm39)	start gained	probably benign
R8515:Preb	UTSW	5	31,116,722 (GRCm39)	missense	probably damaging	1.00
R8948:Preb	UTSW	5	31,115,671 (GRCm39)	missense	probably damaging	0.96
R9037:Preb	UTSW	5	31,116,590 (GRCm39)	missense	probably benign	0.00
R9062:Preb	UTSW	5	31,116,196 (GRCm39)	missense	probably benign	0.00
R9332:Preb	UTSW	5	31,113,673 (GRCm39)	nonsense	probably null
R9348:Preb	UTSW	5	31,112,995 (GRCm39)	missense	probably benign	0.19
R9745:Preb	UTSW	5	31,116,732 (GRCm39)	missense	probably benign
X0065:Preb	UTSW	5	31,116,280 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AGGCTAGGTACCTACAGCCAAG -3'
(R):5'- TTGCAGGTTCCAAGGAGCAG -3'

Sequencing Primer
(F):5'- TAGGTACCTACAGCCAAGACAGTTAC -3'
(R):5'- TTCCAAGGAGCAGGGACCTC -3'

Posted On

2019-12-20