Mutagenetix > Incidental Mutation

Incidental Mutation 'R7815:Pram1'

601491

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 #

R7815 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

33857030-33864680 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 33861106 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 509 (N509S)

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: N509S

PolyPhen 2 Score 0.175 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000057065
Gene: ENSMUSG00000032739
AA Change: N509S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	A	G	19: 43,818,866 (GRCm39)	D1285G	probably benign	Het
Abcc9	A	G	6: 142,598,331 (GRCm39)	V669A	probably damaging	Het
Ajap1	C	A	4: 153,517,288 (GRCm39)	G18C	probably damaging	Het
Alms1	G	T	6: 85,592,340 (GRCm39)	M397I	probably benign	Het
Ampd2	A	T	3: 107,982,247 (GRCm39)	M794K	probably benign	Het
Ankrd35	A	T	3: 96,592,117 (GRCm39)	Q801L	probably damaging	Het
Casz1	A	T	4: 149,013,762 (GRCm39)	I109F	possibly damaging	Het
Ces5a	G	A	8: 94,247,623 (GRCm39)	S297F	possibly damaging	Het
Col7a1	A	G	9: 108,798,633 (GRCm39)	D1762G	probably damaging	Het
Dsp	A	T	13: 38,375,446 (GRCm39)	Y1077F	probably benign	Het
Eef2k	A	G	7: 120,457,793 (GRCm39)	N51D	probably benign	Het
Erbb4	A	G	1: 68,081,885 (GRCm39)	Y1050H	probably damaging	Het
Fpgt	A	T	3: 154,792,289 (GRCm39)	S579R	probably benign	Het
Gabra4	T	A	5: 71,815,152 (GRCm39)	M1L	possibly damaging	Het
Galk2	G	A	2: 125,817,321 (GRCm39)	S370N	probably damaging	Het
Gpr155	T	A	2: 73,192,904 (GRCm39)	T516S	probably benign	Het
Homez	T	C	14: 55,095,675 (GRCm39)	N11S	probably benign	Het
Hspg2	G	A	4: 137,239,775 (GRCm39)	G494D	probably damaging	Het
Htr3b	C	T	9: 48,856,833 (GRCm39)	R215Q	probably benign	Het
Igfbp4	A	G	11: 98,932,654 (GRCm39)	E111G	probably benign	Het
Igkv8-19	T	C	6: 70,318,420 (GRCm39)	T5A	probably benign	Het
Insrr	A	G	3: 87,716,002 (GRCm39)	K566E	probably damaging	Het
Iqsec3	A	G	6: 121,450,317 (GRCm39)	V69A	probably benign	Het
Kdm5d	T	C	Y: 940,702 (GRCm39)	V1071A	probably damaging	Het
Kif28	A	G	1: 179,563,548 (GRCm39)	C143R	probably damaging	Het
Kpna6	T	C	4: 129,551,590 (GRCm39)	M65V	probably benign	Het
L3mbtl3	T	C	10: 26,156,276 (GRCm39)	S669G	unknown	Het
Man1a2	A	T	3: 100,563,495 (GRCm39)	I50N	probably damaging	Het
Map3k11	A	T	19: 5,745,667 (GRCm39)	M356L	possibly damaging	Het
Meioc	A	T	11: 102,566,414 (GRCm39)	N677Y	probably damaging	Het
Myom3	A	T	4: 135,528,674 (GRCm39)	K1108M	possibly damaging	Het
Nav1	C	T	1: 135,512,377 (GRCm39)	E228K	possibly damaging	Het
Ncapd3	G	A	9: 26,974,736 (GRCm39)	W736*	probably null	Het
Nfkb1	T	C	3: 135,309,552 (GRCm39)	D514G	probably damaging	Het
Nnt	T	A	13: 119,494,111 (GRCm39)	T657S	possibly damaging	Het
Or4k5	A	G	14: 50,386,253 (GRCm39)	F26S	probably benign	Het
Or51b4	A	G	7: 103,530,992 (GRCm39)	S153P	probably benign	Het
Oser1	A	T	2: 163,253,336 (GRCm39)	S58T	possibly damaging	Het
Pcdha5	T	A	18: 37,094,556 (GRCm39)	I355N	possibly damaging	Het
Pllp	C	G	8: 95,402,804 (GRCm39)	G99A	probably damaging	Het
Prkd1	A	C	12: 50,472,300 (GRCm39)	N204K	probably damaging	Het
Prss23	G	A	7: 89,159,253 (GRCm39)	P272L	probably damaging	Het
Pxdn	T	C	12: 30,055,824 (GRCm39)	F1057L	probably damaging	Het
Rapgef5	T	A	12: 117,719,702 (GRCm39)	S777R	probably benign	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Rfx3	A	T	19: 27,803,448 (GRCm39)	M265K	probably benign	Het
S100a7a	C	A	3: 90,565,119 (GRCm39)	H105N	probably benign	Het
Serpinb3b	T	C	1: 107,084,625 (GRCm39)	D132G	probably damaging	Het
Sp7	T	A	15: 102,274,822 (GRCm39)		probably benign	Het
Tacstd2	A	G	6: 67,512,140 (GRCm39)	F184S	possibly damaging	Het
Trdc	C	A	14: 54,381,259 (GRCm39)		probably benign	Het
Trpa1	T	A	1: 14,974,486 (GRCm39)	H232L	probably benign	Het
Trpc3	G	T	3: 36,709,294 (GRCm39)	T394K	probably benign	Het
Tuba3b	G	A	6: 145,566,847 (GRCm39)	V363I	possibly damaging	Het
Tubb2a	C	A	13: 34,258,962 (GRCm39)	R276L	probably benign	Het
Ubap2l	A	T	3: 89,951,071 (GRCm39)	L72*	probably null	Het
Vps13a	A	T	19: 16,702,936 (GRCm39)	D672E	probably damaging	Het
Wdr26	A	G	1: 181,036,638 (GRCm39)	V166A	probably benign	Het
Wwox	T	C	8: 115,438,776 (GRCm39)	S281P	probably damaging	Het
Xirp2	G	A	2: 67,339,756 (GRCm39)	G666R	probably damaging	Het
Zfp131	T	C	13: 120,237,516 (GRCm39)	K247E	probably 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
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
R6063:Pram1	UTSW	17	33,860,386 (GRCm39)	nonsense	probably null
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'- GGGTGCTAAATATCTGCGCAG -3'
(R):5'- TAGCAAACCTGGCTGCTTGG -3'

Sequencing Primer
(F):5'- GCGCAGAGCCATTTCCC -3'
(R):5'- ACCATCTGGCCTGTATGGATCAC -3'

Posted On

2019-12-03