Mutagenetix > Incidental Mutation

Incidental Mutation 'R1806:Prom2'

203438

Institutional Source

Beutler Lab

Gene Symbol

Prom2

Ensembl Gene

ENSMUSG00000027376

Gene Name

prominin 2

Synonyms

MMRRC Submission

039835-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1806 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

127526473-127541467 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 127532882 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 578 (Y578C)

Ref Sequence

ENSEMBL: ENSMUSP00000099503 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028855] [ENSMUST00000103214]

AlphaFold

Q3UUY6

Predicted Effect

probably damaging
Transcript: ENSMUST00000028855
AA Change: Y578C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000028855
Gene: ENSMUSG00000027376
AA Change: Y578C

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:Prominin	25	808	3.6e-279	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000103214
AA Change: Y578C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099503
Gene: ENSMUSG00000027376
AA Change: Y578C

Domain	Start	End	E-Value	Type
Pfam:Prominin	18	818	3e-288	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140156

Meta Mutation Damage Score

0.7333

Coding Region Coverage

1x: 97.5%
3x: 96.8%
10x: 94.9%
20x: 91.2%

Validation Efficiency

96% (77/80)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the prominin family of pentaspan membrane glycoproteins. The encoded protein localizes to basal epithelial cells and may be involved in the organization of plasma membrane microdomains. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
PHENOTYPE: Homozygous mutant mice exhibited signs of anemia, with decreased mean red blood cell count and decreased mean hemoglobin and hematocrit levels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
8430408G22Rik	G	A	6: 116,651,722	V9M	possibly damaging	Het
Adamts15	C	A	9: 30,904,815	C616F	probably damaging	Het
Adarb1	T	C	10: 77,322,265	N116S	probably damaging	Het
Add2	C	T	6: 86,118,657	S437L	probably damaging	Het
Adra1d	T	A	2: 131,546,149	R495S	probably benign	Het
Agk	C	T	6: 40,387,495	T309I	probably damaging	Het
Aqr	T	C	2: 114,161,652	Y81C	probably damaging	Het
Bak1	G	A	17: 27,021,268	Q142*	probably null	Het
Bckdha	A	G	7: 25,631,420	V307A	probably damaging	Het
Camk2n2	C	A	16: 20,620,198	G72V	probably benign	Het
Cd276	A	T	9: 58,527,562		probably benign	Het
Cd2ap	G	A	17: 42,838,758	Q122*	probably null	Het
Cdan1	T	A	2: 120,731,426		probably benign	Het
Cdh3	T	C	8: 106,536,915	S156P	probably benign	Het
Chil4	T	A	3: 106,210,643		probably benign	Het
Col11a1	C	T	3: 114,158,142	R1074C	probably damaging	Het
Fcrlb	T	C	1: 170,907,527	T344A	probably benign	Het
Fras1	T	A	5: 96,713,970		probably benign	Het
Fras1	G	T	5: 96,764,976	V3380F	possibly damaging	Het
Galnt9	A	G	5: 110,619,253	D530G	possibly damaging	Het
Gja10	A	T	4: 32,601,135	S416R	probably benign	Het
Gm10549	T	A	18: 33,470,788	V108E	unknown	Het
Gm8298	T	C	3: 59,877,150	L348P	probably damaging	Het
Hook3	A	T	8: 26,068,659	L59Q	probably damaging	Het
Hpf1	T	A	8: 60,900,120	D178E	probably benign	Het
Hsd17b7	T	C	1: 169,961,129	N173S	possibly damaging	Het
Hsph1	A	G	5: 149,629,989	F236L	probably damaging	Het
Kcnk12	G	T	17: 87,746,109	T375K	probably benign	Het
Kdelc2	T	C	9: 53,395,850	Y365H	probably damaging	Het
Klra3	A	T	6: 130,327,070	S220T	probably damaging	Het
Lhx1	A	T	11: 84,524,141	L12Q	probably damaging	Het
Lnx1	A	G	5: 74,606,049	L468P	probably damaging	Het
Ltbp3	T	A	19: 5,753,942	C827*	probably null	Het
Mical1	C	T	10: 41,478,214	A53V	probably damaging	Het
Mmp10	A	T	9: 7,506,501	H326L	probably benign	Het
Mpl	A	T	4: 118,443,532	M600K	possibly damaging	Het
Muc5b	T	A	7: 141,865,493	D4004E	possibly damaging	Het
Myo5b	A	T	18: 74,577,609	H98L	possibly damaging	Het
Nbeal1	A	G	1: 60,284,092	T2110A	probably damaging	Het
Nedd4l	C	A	18: 65,212,791	R825S	probably damaging	Het
Ntn4	C	T	10: 93,707,353	R314W	probably damaging	Het
Olfr1277	A	T	2: 111,270,277	I30N	possibly damaging	Het
Olfr228	A	T	2: 86,483,139	I201N	probably damaging	Het
Olfr596	T	A	7: 103,310,225	L168Q	probably damaging	Het
Otog	A	T	7: 46,290,937		probably null	Het
Parp2	T	A	14: 50,819,379	L320H	probably damaging	Het
Pola2	C	T	19: 5,943,222		probably null	Het
Poln	A	T	5: 34,107,150		probably benign	Het
Pomt1	T	A	2: 32,241,668	V123E	probably damaging	Het
Prss23	T	C	7: 89,510,391	T157A	probably damaging	Het
Sdk1	T	A	5: 141,613,195	V205E	probably damaging	Het
Sdk1	A	G	5: 142,161,926	K1771R	probably benign	Het
Sidt1	A	T	16: 44,281,871	S309T	possibly damaging	Het
Sirpa	T	A	2: 129,615,512	F169I	probably damaging	Het
Slc8a1	T	C	17: 81,648,487	N374S	probably damaging	Het
Sp110	C	T	1: 85,596,110		probably null	Het
Stard9	A	G	2: 120,679,453		probably null	Het
Synpr	A	G	14: 13,563,082	N105S	probably damaging	Het
Tbc1d16	T	C	11: 119,156,101	Y440C	probably damaging	Het
Trabd	A	G	15: 89,085,621	I313V	possibly damaging	Het
Trappc10	T	C	10: 78,210,776	R430G	probably damaging	Het
Trim50	A	G	5: 135,358,889	E145G	probably benign	Het
Uba2	A	T	7: 34,163,199	F105I	probably damaging	Het
Uba3	A	G	6: 97,199,269	V92A	possibly damaging	Het
Uhmk1	T	C	1: 170,211,059	K153R	probably damaging	Het
Vmn2r3	T	A	3: 64,275,472	M269L	probably benign	Het
Vmn2r3	T	C	3: 64,287,389	K8R	possibly damaging	Het
Xpot	G	T	10: 121,607,638		probably benign	Het
Zfp128	A	G	7: 12,891,022	Y439C	probably benign	Het
Zfy1	T	A	Y: 725,620	H715L	possibly damaging	Het
Zmym1	A	C	4: 127,048,079	L839V	probably damaging	Het

Other mutations in Prom2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01024:Prom2	APN	2	127541139	missense	probably benign	0.04
IGL01140:Prom2	APN	2	127531205	splice site	probably benign
IGL01300:Prom2	APN	2	127535089	missense	probably benign	0.44
IGL01445:Prom2	APN	2	127539513	splice site	probably benign
IGL01472:Prom2	APN	2	127532882	missense	probably benign	0.39
IGL01541:Prom2	APN	2	127529130	critical splice donor site	probably null
IGL01991:Prom2	APN	2	127529222	missense	probably damaging	1.00
IGL02421:Prom2	APN	2	127531882	critical splice acceptor site	probably null
IGL02557:Prom2	APN	2	127529471	missense	possibly damaging	0.85
IGL02724:Prom2	APN	2	127538657	splice site	probably benign
IGL02826:Prom2	APN	2	127531116	missense	probably benign	0.07
IGL02830:Prom2	APN	2	127535069	missense	possibly damaging	0.88
IGL02990:Prom2	APN	2	127528814	missense	probably benign	0.10
R0110:Prom2	UTSW	2	127531113	missense	possibly damaging	0.53
R0133:Prom2	UTSW	2	127538338	splice site	probably benign
R0165:Prom2	UTSW	2	127539514	splice site	probably benign
R0220:Prom2	UTSW	2	127541107	missense	probably benign	0.03
R0466:Prom2	UTSW	2	127528789	missense	probably damaging	0.99
R0505:Prom2	UTSW	2	127532867	missense	possibly damaging	0.82
R0605:Prom2	UTSW	2	127539995	critical splice donor site	probably null
R0633:Prom2	UTSW	2	127539525	missense	probably benign	0.19
R0947:Prom2	UTSW	2	127538263	missense	possibly damaging	0.69
R1682:Prom2	UTSW	2	127540162	missense	possibly damaging	0.90
R1859:Prom2	UTSW	2	127541097	missense	probably damaging	0.97
R1864:Prom2	UTSW	2	127539787	missense	probably benign	0.00
R1866:Prom2	UTSW	2	127536594	missense	probably damaging	0.99
R3824:Prom2	UTSW	2	127535673	splice site	probably benign
R4472:Prom2	UTSW	2	127540191	missense	probably benign	0.06
R5078:Prom2	UTSW	2	127531837	missense	probably benign	0.00
R5889:Prom2	UTSW	2	127529411	missense	possibly damaging	0.79
R5930:Prom2	UTSW	2	127530133	nonsense	probably null
R6214:Prom2	UTSW	2	127539775	critical splice donor site	probably null
R6215:Prom2	UTSW	2	127539775	critical splice donor site	probably null
R6914:Prom2	UTSW	2	127530375	missense	possibly damaging	0.78
R7099:Prom2	UTSW	2	127539778	missense	probably benign
R7427:Prom2	UTSW	2	127539811	missense	probably damaging	0.99
R7428:Prom2	UTSW	2	127539811	missense	probably damaging	0.99
R7525:Prom2	UTSW	2	127532781	missense	probably benign
R8477:Prom2	UTSW	2	127539204	missense	probably benign	0.01
R9287:Prom2	UTSW	2	127538265	missense	probably damaging	0.98
R9337:Prom2	UTSW	2	127529174	missense	probably damaging	0.99
Z1176:Prom2	UTSW	2	127532775	missense	probably damaging	1.00
Z1177:Prom2	UTSW	2	127538305	missense	probably damaging	1.00
Z1177:Prom2	UTSW	2	127539526	missense	probably benign	0.19

Predicted Primers

PCR Primer
(F):5'- GATGCAGAACACACCCAGGATG -3'
(R):5'- GAGAAAGTCTGTGCCACAGC -3'

Sequencing Primer
(F):5'- ACCCAGGATGGCCCTTTCAC -3'
(R):5'- TGTGCCACAGCCCAGTTAC -3'

Posted On

2014-06-23