Mutagenetix > Incidental Mutation

Incidental Mutation 'R4472:Prom2'

330389

Institutional Source

Beutler Lab

Gene Symbol

Prom2

Ensembl Gene

ENSMUSG00000027376

Gene Name

prominin 2

Synonyms

MMRRC Submission

041729-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4472 (G1)

Quality Score

146

Status

Validated

Chromosome

Chromosomal Location

127526473-127541467 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 127540191 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 101 (R101L)

Ref Sequence

ENSEMBL: ENSMUSP00000099503 (fasta)

Gene Model

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

AlphaFold

Q3UUY6

Predicted Effect

probably benign
Transcript: ENSMUST00000028855
AA Change: R101L

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000028855
Gene: ENSMUSG00000027376
AA Change: R101L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000103214
AA Change: R101L

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000099503
Gene: ENSMUSG00000027376
AA Change: R101L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140156

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155581

Meta Mutation Damage Score

0.0851

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

97% (66/68)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J11Rik	A	T	9: 40,050,698		noncoding transcript	Het
Accsl	T	A	2: 93,863,991		probably null	Het
Accsl	G	T	2: 93,863,992		probably null	Het
Adcy1	G	A	11: 7,130,369	V371M	probably damaging	Het
Adgrb2	C	T	4: 130,008,353	A509V	probably benign	Het
Adgrg6	T	A	10: 14,436,781	Q754L	probably damaging	Het
Agap2	T	C	10: 127,091,213	I1008T	probably damaging	Het
Aph1c	T	G	9: 66,827,769	H150P	probably damaging	Het
Atcay	T	C	10: 81,212,527	R242G	possibly damaging	Het
Atg2a	G	A	19: 6,258,955	V1724M	probably damaging	Het
Bbs12	T	C	3: 37,319,220	V54A	possibly damaging	Het
Card14	A	G	11: 119,333,958	M604V	possibly damaging	Het
Cd28	A	T	1: 60,763,234	H104L	probably benign	Het
Cntn5	A	T	9: 10,048,771	D262E	probably damaging	Het
Col6a3	A	G	1: 90,822,014	V366A	probably benign	Het
Csnk1d	G	A	11: 120,964,974		probably benign	Het
Dcaf11	T	A	14: 55,565,606		probably benign	Het
Dpy19l4	G	A	4: 11,304,053	T119M	possibly damaging	Het
Eif3f	T	C	7: 108,940,946	V316A	possibly damaging	Het
Fbrsl1	G	A	5: 110,379,066		probably benign	Het
Fbxo10	C	T	4: 45,043,693	R710H	probably damaging	Het
Fbxw9	G	A	8: 85,060,200	D25N	probably damaging	Het
Gm14295	C	T	2: 176,809,593	T292I	possibly damaging	Het
Gm4884	C	G	7: 41,043,263	Q219E	probably benign	Het
Gpr150	A	G	13: 76,056,154	V224A	probably benign	Het
Hps1	A	T	19: 42,762,496	I355N	probably damaging	Het
Lmbr1l	A	G	15: 98,906,297	S374P	probably benign	Het
Macf1	A	T	4: 123,395,989	N5458K	probably damaging	Het
Man1b1	C	G	2: 25,332,855		probably benign	Het
Morc3	A	G	16: 93,874,757		probably null	Het
Mrgpra4	T	C	7: 47,981,791	T21A	probably benign	Het
Myo1a	G	T	10: 127,710,458	V277L	probably benign	Het
Nkain4	C	G	2: 180,954,622	M1I	probably null	Het
Nktr	T	C	9: 121,748,896		probably benign	Het
Nrxn3	T	C	12: 90,204,741	S276P	probably damaging	Het
Oas2	A	T	5: 120,741,155	D373E	possibly damaging	Het
Olfr970	T	A	9: 39,820,574	*312R	probably null	Het
Oser1	T	A	2: 163,415,580	E11V	probably null	Het
Oser1	C	T	2: 163,415,581	E11K	probably damaging	Het
Pacsin3	A	G	2: 91,262,943		probably null	Het
Pcdh20	T	C	14: 88,468,998	S289G	probably benign	Het
Phlpp1	A	G	1: 106,386,446	D1183G	probably damaging	Het
Pign	T	C	1: 105,648,220	K232E	probably benign	Het
Polk	A	G	13: 96,493,905	S383P	probably damaging	Het
Rest	T	C	5: 77,281,180	V482A	probably benign	Het
Rexo1	A	T	10: 80,542,658	S476T	probably damaging	Het
Rnf31	T	A	14: 55,603,320	Y1015N	probably damaging	Het
Spata3	T	C	1: 86,026,430	Y305H	probably benign	Het
Sv2a	G	A	3: 96,192,494	V587M	probably benign	Het
Synj1	A	G	16: 90,969,181		probably null	Het
Syt17	A	G	7: 118,436,817		probably null	Het
Taf2	T	C	15: 55,058,880	D337G	possibly damaging	Het
Tcaf1	A	C	6: 42,679,314	S243A	probably benign	Het
Tmem9	A	G	1: 136,027,496	T123A	probably benign	Het
Trav4-4-dv10	T	C	14: 53,683,730		probably benign	Het
Trbv15	G	A	6: 41,141,559	R83Q	probably damaging	Het
Trim27	A	G	13: 21,189,886	I268V	probably benign	Het
Tubgcp6	T	A	15: 89,103,654	S1031C	probably damaging	Het
Vmn1r89	C	A	7: 13,219,872	H110Q	probably benign	Het
Vmn2r30	T	C	7: 7,317,092	N545S	probably damaging	Het
Wls	G	A	3: 159,897,383	M144I	probably benign	Het
Yme1l1	T	C	2: 23,186,332		probably null	Het
Zeb2	A	T	2: 45,023,011	L56Q	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
R1806:Prom2	UTSW	2	127532882	missense	probably damaging	1.00
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
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'- TCAGCAGCAGGAAGATCATG -3'
(R):5'- GGGGTCTTAGGCATCCTTTC -3'

Sequencing Primer
(F):5'- CAGCAGGAAGATCATGAGGGTAC -3'
(R):5'- AGTGATCCCCAGTGTCTTTAGAC -3'

Posted On

2015-07-21