Mutagenetix > Incidental Mutation

Incidental Mutation 'R5077:Pram1'

401961

Institutional Source

Beutler Lab

Gene Symbol

Pram1

Ensembl Gene

ENSMUSG00000032739

Gene Name

PML-RAR alpha-regulated adaptor molecule 1

Synonyms

MMRRC Submission

042666-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5077 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

33857030-33864680 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 33863878 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 572 (Q572*)

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: Q572*

SMART Domains

Protein: ENSMUSP00000057065
Gene: ENSMUSG00000032739
AA Change: Q572*

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

Meta Mutation Damage Score

0.9717

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

93% (51/55)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34l	A	G	8: 44,080,200 (GRCm39)	V8A	possibly damaging	Het
Agbl4	A	T	4: 111,423,939 (GRCm39)	M322L	probably benign	Het
Ankrd55	A	G	13: 112,492,522 (GRCm39)	K231R	probably benign	Het
Asap1	A	C	15: 63,999,272 (GRCm39)	M534R	probably damaging	Het
B4galnt2	T	A	11: 95,767,140 (GRCm39)		probably benign	Het
Cacna1e	A	T	1: 154,437,475 (GRCm39)		probably null	Het
Cacna1h	T	C	17: 25,594,224 (GRCm39)	I2311M	probably benign	Het
Capn2	G	T	1: 182,300,138 (GRCm39)	D617E	possibly damaging	Het
Catsper1	A	G	19: 5,385,998 (GRCm39)	D77G	probably damaging	Het
Cdc42bpa	A	T	1: 179,922,098 (GRCm39)		probably benign	Het
Cdca8	T	C	4: 124,820,470 (GRCm39)	K109E	probably damaging	Het
Dbx1	A	G	7: 49,283,242 (GRCm39)	S223P	probably damaging	Het
Dlg4	A	G	11: 69,917,852 (GRCm39)	N45S	possibly damaging	Het
Dlgap2	T	G	8: 14,872,691 (GRCm39)	V723G	probably benign	Het
Efl1	C	A	7: 82,307,295 (GRCm39)	Q64K	probably damaging	Het
Eml1	T	A	12: 108,472,871 (GRCm39)		probably benign	Het
Fbxw16	A	G	9: 109,270,117 (GRCm39)		probably null	Het
Gm10800	A	T	2: 98,497,379 (GRCm39)	L80M	probably benign	Het
H4c16	A	G	6: 136,781,113 (GRCm39)	Y89H	probably benign	Het
Insig2	A	T	1: 121,239,964 (GRCm39)	V112E	probably damaging	Het
Kcnip3	A	G	2: 127,307,797 (GRCm39)	S123P	probably damaging	Het
Map3k9	T	C	12: 81,780,851 (GRCm39)		probably null	Het
Myo16	T	C	8: 10,372,658 (GRCm39)	V119A	probably damaging	Het
Naa25	G	A	5: 121,562,639 (GRCm39)	V474M	probably benign	Het
Nckap1	A	T	2: 80,379,277 (GRCm39)	V219E	probably damaging	Het
Niban1	A	G	1: 151,590,274 (GRCm39)	I523V	probably benign	Het
Nrp1	G	T	8: 129,227,154 (GRCm39)		probably null	Het
Nsun4	A	T	4: 115,905,781 (GRCm39)	D58E	probably benign	Het
Obscn	G	T	11: 58,934,883 (GRCm39)	A5249D	probably damaging	Het
Or8k53	A	T	2: 86,177,683 (GRCm39)	H142Q	probably benign	Het
Osmr	A	T	15: 6,873,874 (GRCm39)	Y174*	probably null	Het
Pi4k2a	T	C	19: 42,108,275 (GRCm39)		probably null	Het
Prdm5	C	A	6: 65,756,158 (GRCm39)	T25K	probably damaging	Het
Psen1	T	C	12: 83,771,439 (GRCm39)	Y240H	probably damaging	Het
Pygl	C	T	12: 70,248,666 (GRCm39)	G318S	probably benign	Het
Rbck1	A	C	2: 152,160,371 (GRCm39)	M436R	probably benign	Het
Resf1	T	G	6: 149,227,528 (GRCm39)	S191R	probably benign	Het
Rmnd1	T	C	10: 4,377,488 (GRCm39)	N64D	possibly damaging	Het
Rsph4a	A	G	10: 33,784,275 (GRCm39)	D299G	probably damaging	Het
Sema4c	T	C	1: 36,590,812 (GRCm39)	S480G	probably benign	Het
Srp68	T	C	11: 116,136,638 (GRCm39)	D552G	probably damaging	Het
Syde2	G	T	3: 145,707,764 (GRCm39)	A568S	probably damaging	Het
Szrd1	G	T	4: 140,867,092 (GRCm39)		probably null	Het
Szt2	A	T	4: 118,226,813 (GRCm39)		probably null	Het
Tbc1d31	A	G	15: 57,818,797 (GRCm39)	E800G	probably benign	Het
Tmprss11d	C	A	5: 86,457,122 (GRCm39)		probably null	Het
Usp37	A	G	1: 74,480,720 (GRCm39)	V895A	probably damaging	Het
Vmn1r19	T	C	6: 57,382,026 (GRCm39)	I193T	probably benign	Het
Vmn2r102	T	C	17: 19,897,834 (GRCm39)	V283A	probably benign	Het
Vps13d	C	T	4: 144,814,811 (GRCm39)	G3180D	probably damaging	Het
Xirp2	A	C	2: 67,344,821 (GRCm39)	D2354A	probably benign	Het
Zc3h14	T	A	12: 98,723,465 (GRCm39)		probably null	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
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'- CAGATGAAATGCTGTCTACCCAG -3'
(R):5'- CGTGTGAATCACAATCTCACC -3'

Sequencing Primer
(F):5'- CCAGATGGCCTCAACAGGAG -3'
(R):5'- CCTTCAAACTTGGAGAACATCATG -3'

Posted On

2016-07-22