Mutagenetix > Incidental Mutation

Incidental Mutation 'R2216:Pram1'

241185

Institutional Source

Beutler Lab

Gene Symbol

Pram1

Ensembl Gene

ENSMUSG00000032739

Gene Name

PML-RAR alpha-regulated adaptor molecule 1

Synonyms

MMRRC Submission

040218-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2216 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

33857030-33864680 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 33860258 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 275 (A275V)

Ref Sequence

ENSEMBL: ENSMUSP00000057065 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052079] [ENSMUST00000087582] [ENSMUST00000114385] [ENSMUST00000116619] [ENSMUST00000139302] [ENSMUST00000148178]

AlphaFold

Q6BCL1

Predicted Effect

probably benign
Transcript: ENSMUST00000052079
AA Change: A275V

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000057065
Gene: ENSMUSG00000032739
AA Change: A275V

Domain	Start	End	E-Value	Type
internal_repeat_1	15	151	3.3e-6	PROSPERO
internal_repeat_1	237	378	3.3e-6	PROSPERO
low complexity region	393	404	N/A	INTRINSIC
low complexity region	445	453	N/A	INTRINSIC
low complexity region	458	471	N/A	INTRINSIC
low complexity region	480	486	N/A	INTRINSIC
SH3	581	655	1.09e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000087582

SMART Domains

Protein: ENSMUSP00000084864
Gene: ENSMUSG00000059208

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
Pfam:HnRNP_M	40	69	2.7e-20	PFAM
RRM	71	144	2.35e-20	SMART
RRM	165	237	1.66e-20	SMART
low complexity region	257	274	N/A	INTRINSIC
low complexity region	307	321	N/A	INTRINSIC
low complexity region	350	356	N/A	INTRINSIC
Blast:AAA	430	589	2e-50	BLAST
low complexity region	590	603	N/A	INTRINSIC
RRM	614	685	1.51e-23	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000114385

SMART Domains

Protein: ENSMUSP00000110027
Gene: ENSMUSG00000059208

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
Pfam:HnRNP_M	40	69	1.5e-20	PFAM
RRM	71	144	2.35e-20	SMART
low complexity region	164	175	N/A	INTRINSIC
low complexity region	176	193	N/A	INTRINSIC
RRM	204	276	1.66e-20	SMART
low complexity region	296	313	N/A	INTRINSIC
internal_repeat_2	332	432	3.9e-5	PROSPERO
internal_repeat_2	479	581	3.9e-5	PROSPERO
low complexity region	591	602	N/A	INTRINSIC
low complexity region	606	616	N/A	INTRINSIC
low complexity region	629	642	N/A	INTRINSIC
internal_repeat_1	643	676	1.39e-5	PROSPERO

Predicted Effect

probably benign
Transcript: ENSMUST00000116619

Predicted Effect

probably benign
Transcript: ENSMUST00000130946

SMART Domains

Protein: ENSMUSP00000116671
Gene: ENSMUSG00000059208

Domain	Start	End	E-Value	Type
low complexity region	28	42	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000139302

SMART Domains

Protein: ENSMUSP00000115787
Gene: ENSMUSG00000059208

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
Pfam:HnRNP_M	40	69	1.4e-20	PFAM
RRM	71	144	2.35e-20	SMART
RRM	165	237	1.66e-20	SMART
low complexity region	257	274	N/A	INTRINSIC
low complexity region	307	321	N/A	INTRINSIC
low complexity region	350	356	N/A	INTRINSIC
Blast:AAA	430	589	8e-51	BLAST
low complexity region	590	603	N/A	INTRINSIC
internal_repeat_1	611	635	5.49e-5	PROSPERO

Predicted Effect

probably benign
Transcript: ENSMUST00000148178

SMART Domains

Protein: ENSMUSP00000120115
Gene: ENSMUSG00000059208

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
Pfam:HnRNP_M	40	69	2.2e-22	PFAM
RRM	71	144	2.35e-20	SMART
low complexity region	164	175	N/A	INTRINSIC
low complexity region	176	193	N/A	INTRINSIC
RRM	204	276	1.66e-20	SMART
low complexity region	296	313	N/A	INTRINSIC
internal_repeat_2	332	432	6.64e-5	PROSPERO
internal_repeat_2	479	581	6.64e-5	PROSPERO
low complexity region	591	602	N/A	INTRINSIC
low complexity region	606	616	N/A	INTRINSIC
low complexity region	629	642	N/A	INTRINSIC
RRM	653	724	1.51e-23	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166215

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163245

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is similar to FYN binding protein (FYB/SLAP-130), an adaptor protein involved in T cell receptor mediated signaling. This gene is expressed and regulated during normal myelopoiesis. The expression of this gene is induced by retinoic acid and is inhibited by the expression of PML-RARalpha, a fusion protein of promyelocytic leukemia (PML) and the retinoic acid receptor-alpha (RARalpha). [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice have neutrophils that exhibit decreased adhesion-dependent reactive oxygen intermediate production and degranulation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aipl1	G	T	11: 71,922,272 (GRCm39)	P146T	probably damaging	Het
Arnt2	T	A	7: 83,924,559 (GRCm39)	T423S	probably damaging	Het
Bend5	A	G	4: 111,305,787 (GRCm39)	N277S	probably null	Het
Cd22	G	T	7: 30,566,471 (GRCm39)	T816N	probably damaging	Het
Cep126	G	A	9: 8,120,679 (GRCm39)	R115C	probably damaging	Het
Cep85	T	C	4: 133,858,741 (GRCm39)	H710R	possibly damaging	Het
Cmya5	A	T	13: 93,230,003 (GRCm39)	L1695H	probably damaging	Het
Col24a1	T	C	3: 145,020,742 (GRCm39)	V371A	probably benign	Het
Csmd1	T	A	8: 17,077,355 (GRCm39)		probably null	Het
Cyp1a1	T	A	9: 57,609,352 (GRCm39)		probably null	Het
Dennd1c	C	T	17: 57,381,492 (GRCm39)		probably null	Het
Dmxl1	G	A	18: 50,026,990 (GRCm39)	V2033I	probably benign	Het
Dtna	A	G	18: 23,702,622 (GRCm39)	H51R	probably damaging	Het
Dysf	G	A	6: 84,184,227 (GRCm39)		probably null	Het
Gcn1	T	A	5: 115,731,720 (GRCm39)	V945E	probably benign	Het
Gpbar1	C	G	1: 74,318,053 (GRCm39)	L99V	probably damaging	Het
Hdac9	A	T	12: 34,479,516 (GRCm39)	D212E	probably damaging	Het
Itga1	A	T	13: 115,133,565 (GRCm39)	D448E	probably benign	Het
Itga2b	T	A	11: 102,358,692 (GRCm39)	N75I	probably benign	Het
Klra7	T	C	6: 130,205,549 (GRCm39)	E117G	probably benign	Het
Kmt2b	G	A	7: 30,273,490 (GRCm39)	R2349C	probably benign	Het
Masp1	T	C	16: 23,310,805 (GRCm39)	N209S	probably benign	Het
Mybpc2	C	T	7: 44,161,924 (GRCm39)		probably null	Het
Myh15	C	G	16: 48,986,201 (GRCm39)	S1557*	probably null	Het
Myo3a	A	C	2: 22,467,783 (GRCm39)	T346P	probably benign	Het
Nim1k	A	G	13: 120,175,751 (GRCm39)	Y152H	probably damaging	Het
Nrp2	C	T	1: 62,802,077 (GRCm39)	R507*	probably null	Het
Or13n4	T	A	7: 106,423,205 (GRCm39)	H176L	probably damaging	Het
Or5e1	C	T	7: 108,354,819 (GRCm39)	T252M	probably damaging	Het
Parp14	T	C	16: 35,677,575 (GRCm39)	I798V	probably benign	Het
Pcnx2	C	T	8: 126,614,816 (GRCm39)	A212T	probably benign	Het
Pkhd1l1	A	T	15: 44,437,291 (GRCm39)	H3522L	probably damaging	Het
Pramel18	T	A	4: 101,767,257 (GRCm39)	W169R	probably damaging	Het
Prkag1	A	T	15: 98,713,827 (GRCm39)	M1K	probably null	Het
Prss52	T	C	14: 64,351,042 (GRCm39)	S276P	probably damaging	Het
Ranbp17	A	T	11: 33,431,125 (GRCm39)	V284D	probably damaging	Het
Reln	T	C	5: 22,253,003 (GRCm39)	D648G	probably benign	Het
Rnf112	A	G	11: 61,343,105 (GRCm39)	L190P	probably damaging	Het
Scn5a	G	T	9: 119,314,678 (GRCm39)	P2010Q	probably benign	Het
Scn5a	T	C	9: 119,342,151 (GRCm39)	Y1138C	probably benign	Het
Slc4a9	A	G	18: 36,663,798 (GRCm39)	H274R	probably benign	Het
Slc5a6	T	G	5: 31,196,679 (GRCm39)	E391D	possibly damaging	Het
Speer2	T	C	16: 69,655,730 (GRCm39)	Q32R	possibly damaging	Het
Tars1	A	G	15: 11,389,794 (GRCm39)	V372A	probably benign	Het
Thsd7a	A	T	6: 12,337,267 (GRCm39)	L1250Q	possibly damaging	Het
Tnnt3	A	G	7: 142,066,301 (GRCm39)	Y222C	probably benign	Het
Trim40	T	C	17: 37,199,875 (GRCm39)	I68V	probably benign	Het
Trp53tg5	T	C	2: 164,313,226 (GRCm39)	I150V	probably benign	Het
Ube2u	T	C	4: 100,389,365 (GRCm39)	V109A	probably benign	Het
Usp54	A	T	14: 20,611,908 (GRCm39)	D969E	probably benign	Het
Vil1	G	T	1: 74,464,838 (GRCm39)	R495L	probably benign	Het
Wfs1	T	A	5: 37,124,564 (GRCm39)	K700*	probably null	Het
Zcchc8	A	G	5: 123,845,466 (GRCm39)	L298P	probably damaging	Het
Zfp946	A	T	17: 22,673,697 (GRCm39)	Q150H	possibly damaging	Het

Other mutations in Pram1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01633:Pram1	APN	17	33,861,109 (GRCm39)	missense	possibly damaging	0.79
IGL01949:Pram1	APN	17	33,860,309 (GRCm39)	missense	probably damaging	0.99
IGL01983:Pram1	APN	17	33,859,835 (GRCm39)	missense	probably damaging	0.98
IGL03403:Pram1	APN	17	33,861,117 (GRCm39)	missense	probably damaging	0.99
R0100:Pram1	UTSW	17	33,860,373 (GRCm39)	missense	possibly damaging	0.56
R0412:Pram1	UTSW	17	33,860,480 (GRCm39)	missense	probably benign	0.24
R1915:Pram1	UTSW	17	33,860,131 (GRCm39)	missense	probably benign	0.34
R4177:Pram1	UTSW	17	33,860,203 (GRCm39)	missense	probably benign
R5007:Pram1	UTSW	17	33,864,411 (GRCm39)	missense	probably damaging	1.00
R5077:Pram1	UTSW	17	33,863,878 (GRCm39)	nonsense	probably null
R5381:Pram1	UTSW	17	33,860,600 (GRCm39)	missense	probably damaging	1.00
R6063:Pram1	UTSW	17	33,860,386 (GRCm39)	nonsense	probably null
R7815:Pram1	UTSW	17	33,861,106 (GRCm39)	missense	probably benign	0.17
R8239:Pram1	UTSW	17	33,860,241 (GRCm39)	missense	probably damaging	1.00
R8248:Pram1	UTSW	17	33,860,138 (GRCm39)	missense	probably benign	0.00
R9189:Pram1	UTSW	17	33,860,131 (GRCm39)	missense	probably benign	0.34
R9208:Pram1	UTSW	17	33,859,801 (GRCm39)	missense	probably benign	0.02
R9254:Pram1	UTSW	17	33,860,441 (GRCm39)	missense	probably damaging	1.00
R9379:Pram1	UTSW	17	33,860,441 (GRCm39)	missense	probably damaging	1.00
Z1177:Pram1	UTSW	17	33,860,573 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TCCAGTACTTTTCCCAAGAAGC -3'
(R):5'- GAACCTTGCAGACTTCAGGC -3'

Sequencing Primer
(F):5'- GTACTTTTCCCAAGAAGCCACTG -3'
(R):5'- AGACTTCAGGCTCCGAGGATG -3'

Posted On

2014-10-15