Mutagenetix > Incidental Mutation

Incidental Mutation 'R9379:Pram1'

709900

Institutional Source

Beutler Lab

Gene Symbol

Pram1

Ensembl Gene

ENSMUSG00000032739

Gene Name

PML-RAR alpha-regulated adaptor molecule 1

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9379 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

33857030-33864680 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 33860441 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 336 (V336A)

Ref Sequence

ENSEMBL: ENSMUSP00000057065 (fasta)

Gene Model

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

AlphaFold

Q6BCL1

Predicted Effect

probably damaging
Transcript: ENSMUST00000052079
AA Change: V336A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000057065
Gene: ENSMUSG00000032739
AA Change: V336A

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: 100.0%
10x: 99.8%
20x: 99.5%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700009N14Rik	A	T	4: 39,451,201 (GRCm39)	I136F	possibly damaging	Het
1700019D03Rik	T	A	1: 52,964,635 (GRCm39)	D31V	probably benign	Het
Abca14	G	T	7: 119,807,202 (GRCm39)	E83*	probably null	Het
Abcc5	T	C	16: 20,152,437 (GRCm39)	T1370A	probably damaging	Het
Ankhd1	T	C	18: 36,777,680 (GRCm39)	V1621A	probably benign	Het
Ano8	T	A	8: 71,936,178 (GRCm39)	Q206L	probably benign	Het
Aox3	A	T	1: 58,208,959 (GRCm39)	I831F	possibly damaging	Het
Atp2a2	T	C	5: 122,611,315 (GRCm39)	I168V	probably benign	Het
Atxn2	G	A	5: 121,885,509 (GRCm39)	V239I	probably damaging	Het
B230219D22Rik	C	A	13: 55,847,283 (GRCm39)	A132E	probably damaging	Het
Btbd17	C	A	11: 114,682,749 (GRCm39)	W321L	possibly damaging	Het
Cacna1i	T	A	15: 80,259,495 (GRCm39)	V1255E	probably damaging	Het
Camsap1	T	C	2: 25,846,318 (GRCm39)	I132V		Het
Chd7	A	G	4: 8,752,210 (GRCm39)	S236G	unknown	Het
Clasp1	CCTGCTGCTGCTGCTG	CCTGCTGCTGCTGCTGCTG	1: 118,509,157 (GRCm39)		probably benign	Het
Clasp1	TGC	TGCCGC	1: 118,509,168 (GRCm39)		probably benign	Het
Col4a1	T	A	8: 11,249,838 (GRCm39)	H1658L	unknown	Het
D630044L22Rik	A	G	17: 26,180,856 (GRCm39)	H102R	possibly damaging	Het
Dact3	G	A	7: 16,620,013 (GRCm39)	V503I	unknown	Het
Dcn	G	T	10: 97,343,643 (GRCm39)	R201L	probably damaging	Het
Dmxl1	T	C	18: 50,024,567 (GRCm39)	V1747A	possibly damaging	Het
Dnajc14	T	A	10: 128,652,743 (GRCm39)		probably null	Het
Dspp	A	T	5: 104,322,760 (GRCm39)		probably null	Het
Ep300	T	C	15: 81,532,760 (GRCm39)	V1666A	unknown	Het
Flvcr2	A	G	12: 85,850,000 (GRCm39)	I429V	probably benign	Het
Gpr158	A	G	2: 21,373,042 (GRCm39)		probably benign	Het
Grip1	G	T	10: 119,780,961 (GRCm39)	L203F	probably damaging	Het
Hoga1	T	C	19: 42,051,697 (GRCm39)	L250P	probably damaging	Het
Htr2b	A	G	1: 86,027,844 (GRCm39)	S221P	probably damaging	Het
Ighv1-24	T	C	12: 114,736,663 (GRCm39)	Y79C	possibly damaging	Het
Katnip	T	C	7: 125,469,848 (GRCm39)	L1439P	probably damaging	Het
Kcnq1	A	G	7: 142,745,169 (GRCm39)	T311A	probably damaging	Het
Kif21a	C	T	15: 90,854,030 (GRCm39)	R779Q	probably damaging	Het
Lilra6	T	C	7: 3,916,166 (GRCm39)	E231G	probably damaging	Het
Lrrc8c	T	A	5: 105,756,356 (GRCm39)	Y710*	probably null	Het
Mixl1	A	G	1: 180,522,258 (GRCm39)	S208P	probably benign	Het
Muc16	T	A	9: 18,557,467 (GRCm39)	Q2942L	unknown	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nlrp4e	C	G	7: 23,020,755 (GRCm39)	A414G	probably benign	Het
Nos1	G	C	5: 118,017,402 (GRCm39)	R255P	probably benign	Het
Nup85	T	C	11: 115,469,424 (GRCm39)	I322T	probably benign	Het
Odad1	A	G	7: 45,597,116 (GRCm39)	T456A	probably benign	Het
Odad2	T	C	18: 7,265,089 (GRCm39)	D426G	possibly damaging	Het
Or10n7-ps1	A	G	9: 39,598,114 (GRCm39)	L42P	probably damaging	Het
Or7e169	T	A	9: 19,757,212 (GRCm39)	K234N	possibly damaging	Het
Or8b4	C	T	9: 37,830,447 (GRCm39)	L165F	probably damaging	Het
Or9k2b	A	G	10: 130,016,605 (GRCm39)	M48T	possibly damaging	Het
Osbpl9	A	T	4: 108,940,399 (GRCm39)	H178Q	probably damaging	Het
Parp14	A	G	16: 35,680,853 (GRCm39)	V260A	probably benign	Het
Plxna2	C	T	1: 194,492,474 (GRCm39)	T1777I	probably damaging	Het
Ppp3cb	T	C	14: 20,581,874 (GRCm39)	D47G	probably benign	Het
Prl	T	A	13: 27,243,503 (GRCm39)	I58N	probably damaging	Het
Qrich2	T	C	11: 116,348,934 (GRCm39)	D630G	unknown	Het
Ralgapa1	G	C	12: 55,769,583 (GRCm39)	P803A	probably damaging	Het
Rtcb	A	T	10: 85,779,071 (GRCm39)		probably null	Het
Ryr2	C	T	13: 11,898,002 (GRCm39)	C131Y	probably damaging	Het
Spata7	A	G	12: 98,600,548 (GRCm39)	I54V	probably benign	Het
St6galnac3	A	G	3: 153,215,070 (GRCm39)	V28A	probably benign	Het
Stra6l	A	T	4: 45,849,093 (GRCm39)	T6S	probably benign	Het
Taf4b	C	T	18: 14,946,431 (GRCm39)	T418M	probably damaging	Het
Taf6	A	G	5: 138,181,952 (GRCm39)	I92T	possibly damaging	Het
Tcaf2	C	T	6: 42,619,517 (GRCm39)	S170N	probably benign	Het
Tfrc	A	G	16: 32,443,819 (GRCm39)	D541G	probably damaging	Het
Trav13n-3	T	G	14: 53,574,853 (GRCm39)	L32V	probably damaging	Het
Trpa1	T	C	1: 14,966,739 (GRCm39)	T542A	possibly damaging	Het
Ttc39b	A	T	4: 83,189,376 (GRCm39)	S53T	probably benign	Het
Tut7	T	C	13: 59,936,288 (GRCm39)	Y1271C	possibly damaging	Het
Ubap2	A	T	4: 41,216,630 (GRCm39)	S268T	possibly damaging	Het
Usp40	A	G	1: 87,881,889 (GRCm39)	V998A	probably benign	Het
Usp44	T	A	10: 93,688,635 (GRCm39)	I562K	possibly damaging	Het
Vmn2r106	T	C	17: 20,496,066 (GRCm39)	T553A	probably damaging	Het
Vmn2r65	A	G	7: 84,596,650 (GRCm39)	V135A	probably damaging	Het
Wbp2nl	T	A	15: 82,198,311 (GRCm39)	S283T	possibly damaging	Het
Wnk1	G	A	6: 119,928,678 (GRCm39)	T1092I	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
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
Z1177:Pram1	UTSW	17	33,860,573 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ATATCCTCAAGCCACTGGTTGC -3'
(R):5'- CACTGAACCAGGAAGCTTGG -3'

Sequencing Primer
(F):5'- ACTGGTTGCCCCAAGTCC -3'
(R):5'- CTTTCTAGGCAGACCCTTGGG -3'

Posted On

2022-04-18