Mutagenetix > Incidental Mutation

Incidental Mutation 'R6063:Pram1'

483946

Institutional Source

Beutler Lab

Gene Symbol

Pram1

Ensembl Gene

ENSMUSG00000032739

Gene Name

PML-RAR alpha-regulated adaptor molecule 1

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6063 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

33857030-33864680 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 33860386 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 318 (K318*)

Ref Sequence

ENSEMBL: ENSMUSP00000057065 (fasta)

Gene Model

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

AlphaFold

Q6BCL1

Predicted Effect

probably null
Transcript: ENSMUST00000052079
AA Change: K318*

SMART Domains

Protein: ENSMUSP00000057065
Gene: ENSMUSG00000032739
AA Change: K318*

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: ENSMUST00000163245

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166215

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	G	A	17: 24,483,318 (GRCm39)	R1713C	unknown	Het
Ano6	C	T	15: 95,846,298 (GRCm39)	T512I	probably damaging	Het
Ap3s1	T	C	18: 46,887,505 (GRCm39)	V46A	probably benign	Het
Art2a	C	A	7: 101,204,413 (GRCm39)	V42F	probably damaging	Het
Asph	C	T	4: 9,531,960 (GRCm39)	V386M	probably benign	Het
B4galnt4	T	A	7: 140,644,643 (GRCm39)	D179E	probably benign	Het
Bbx	T	C	16: 50,071,730 (GRCm39)	I232V	probably benign	Het
C1ql2	A	G	1: 120,269,321 (GRCm39)	I159V	probably benign	Het
Ccar1	A	G	10: 62,612,496 (GRCm39)	V223A	possibly damaging	Het
Cd2ap	A	T	17: 43,136,802 (GRCm39)	L277I	probably benign	Het
Cfap44	G	A	16: 44,250,255 (GRCm39)	E778K	probably benign	Het
Chd3	A	T	11: 69,240,063 (GRCm39)	D1626E	probably benign	Het
Crocc	C	T	4: 140,769,032 (GRCm39)	G505S	probably benign	Het
Crocc	T	A	4: 140,773,851 (GRCm39)	Q72L	probably damaging	Het
Drosha	T	C	15: 12,834,156 (GRCm39)		probably benign	Het
Eps8l1	T	A	7: 4,474,296 (GRCm39)	S256T	possibly damaging	Het
F830045P16Rik	A	G	2: 129,316,310 (GRCm39)	V133A	probably damaging	Het
Fermt2	A	T	14: 45,697,338 (GRCm39)	M671K	possibly damaging	Het
Fhdc1	G	A	3: 84,353,336 (GRCm39)	L630F	probably benign	Het
Gon4l	T	C	3: 88,807,306 (GRCm39)	S1667P	probably damaging	Het
Greb1l	A	C	18: 10,557,340 (GRCm39)	K1780T	probably damaging	Het
H2-Q10	C	T	17: 35,781,026 (GRCm39)	T8M	probably benign	Het
Hmcn2	A	T	2: 31,324,725 (GRCm39)	T4215S	probably benign	Het
I0C0044D17Rik	G	A	4: 98,708,576 (GRCm39)		probably benign	Het
Ifi204	A	G	1: 173,579,223 (GRCm39)	F541L	probably benign	Het
Igkv6-17	C	T	6: 70,348,764 (GRCm39)	A45V	probably damaging	Het
Intu	G	A	3: 40,608,524 (GRCm39)	A161T	probably damaging	Het
Kcnmb2	A	G	3: 32,233,141 (GRCm39)	Y73C	probably damaging	Het
Lrit1	T	C	14: 36,776,945 (GRCm39)	F22L	probably benign	Het
Lrp1b	A	T	2: 41,174,156 (GRCm39)	C699*	probably null	Het
Lrrc8d	A	G	5: 105,959,992 (GRCm39)	D134G	probably benign	Het
Map1b	T	C	13: 99,567,645 (GRCm39)	D1692G	unknown	Het
Met	C	T	6: 17,491,967 (GRCm39)	S243F	probably damaging	Het
Mlph	C	A	1: 90,855,882 (GRCm39)	H96Q	probably damaging	Het
Mycbp2	A	T	14: 103,372,582 (GRCm39)	V4088D	probably damaging	Het
Nampt	T	A	12: 32,898,658 (GRCm39)	S425T	probably damaging	Het
Nts	G	A	10: 102,320,856 (GRCm39)	H78Y	probably benign	Het
Nxf1	A	G	19: 8,745,151 (GRCm39)	E467G	possibly damaging	Het
Olfml2a	C	A	2: 38,841,155 (GRCm39)	D230E	probably benign	Het
Or4b13	C	A	2: 90,082,771 (GRCm39)	C187F	probably benign	Het
Or52n2c	C	T	7: 104,574,599 (GRCm39)	R124H	probably benign	Het
Pcsk5	A	G	19: 17,432,045 (GRCm39)		probably null	Het
Pde5a	C	A	3: 122,618,574 (GRCm39)	T629K	probably benign	Het
Plcb3	G	T	19: 6,940,202 (GRCm39)	R462S	possibly damaging	Het
Pnpla6	T	A	8: 3,574,156 (GRCm39)	M469K	probably benign	Het
Prkd1	T	C	12: 50,388,826 (GRCm39)	R906G	probably benign	Het
Ptprh	T	A	7: 4,576,361 (GRCm39)	T300S	possibly damaging	Het
Rdh16f2	A	G	10: 127,712,743 (GRCm39)	Y247C	probably benign	Het
Rimbp3	A	G	16: 17,028,781 (GRCm39)	E735G	probably damaging	Het
Sall3	G	A	18: 81,017,470 (GRCm39)	P153S	possibly damaging	Het
Samd4b	T	A	7: 28,123,056 (GRCm39)	M1L	possibly damaging	Het
Septin12	T	C	16: 4,810,127 (GRCm39)	E136G	probably damaging	Het
Shpk	A	T	11: 73,104,270 (GRCm39)	K140*	probably null	Het
Sidt1	G	T	16: 44,079,829 (GRCm39)	F608L	probably benign	Het
Skint5	A	G	4: 113,347,842 (GRCm39)	Y1300H	probably benign	Het
Slc22a28	G	A	19: 8,094,386 (GRCm39)	P212S	probably benign	Het
Slc22a5	A	T	11: 53,758,359 (GRCm39)	F480L	possibly damaging	Het
Slc35e2	C	T	4: 155,694,483 (GRCm39)	P10L	probably benign	Het
Slc3a1	C	T	17: 85,335,951 (GRCm39)	P31L	probably benign	Het
Slc4a7	T	C	14: 14,793,964 (GRCm38)	V1074A	possibly damaging	Het
Snx2	C	T	18: 53,342,697 (GRCm39)	Q254*	probably null	Het
Sox30	G	A	11: 45,882,769 (GRCm39)	V600I	probably benign	Het
Svil	T	G	18: 5,106,724 (GRCm39)	V1855G	probably damaging	Het
Tdpoz9	A	G	3: 93,957,408 (GRCm39)	F7L	probably benign	Het
Tdrd7	A	G	4: 46,005,486 (GRCm39)	T431A	probably benign	Het
Tenm2	A	T	11: 36,054,544 (GRCm39)		probably null	Het
Tigar	A	G	6: 127,068,164 (GRCm39)	S85P	probably benign	Het
Tnr	A	C	1: 159,740,254 (GRCm39)	M1143L	probably benign	Het
Trio	G	T	15: 27,891,465 (GRCm39)	Q429K	possibly damaging	Het
Urb1	T	C	16: 90,585,985 (GRCm39)	I452M	probably benign	Het
Uroc1	A	T	6: 90,324,910 (GRCm39)	E461V	probably benign	Het
Vax1	C	A	19: 59,157,036 (GRCm39)	R99L	unknown	Het
Xab2	A	T	8: 3,663,051 (GRCm39)	I510N	possibly damaging	Het
Zbtb34	A	T	2: 33,301,842 (GRCm39)	I233K	possibly damaging	Het
Zbtb47	A	G	9: 121,592,598 (GRCm39)	E306G	probably benign	Het
Zfp27	A	G	7: 29,593,727 (GRCm39)	F746S	probably damaging	Het
Zfp719	C	T	7: 43,239,050 (GRCm39)	Q213*	probably null	Het
Zswim6	T	C	13: 107,865,112 (GRCm39)		noncoding transcript	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
R2216:Pram1	UTSW	17	33,860,258 (GRCm39)	missense	probably benign	0.02
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
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'- AGCCTGACATCAGTACCTTTCC -3'
(R):5'- GGAAGAACTTGCCGTGTTGAG -3'

Posted On

2017-07-14